COL7A1 (collagen type VII alpha 1 chain)

Gene

• Entrez ID: 1294
• Gene name: Collagen type VII alpha 1 chain
• Gene symbol: COL7A1
• Synonyms (NCBI Gene): EBD1, EBDCT, EBR1, NDNC8
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79378857	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs116005007	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912828	A>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912829	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912830	G>A,T	Pathogenic, likely-benign	Non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs121912831	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs121912832	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912833	C>A,G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912834	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912835	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912836	C>A,T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs121912837	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912838	C>T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, missense variant, coding sequence variant
rs121912839	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121912840	C>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912842	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912843	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912844	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912846	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912847	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912848	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912849	G>A,C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912850	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912851	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, missense variant
rs121912852	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, intron variant
rs121912853	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, missense variant
rs121912854	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs121912855	G>A	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121912856	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs139318843	G>A	Likely-pathogenic	Downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs142566193	G>A	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs144023803	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs147040026	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs149267939	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200972872	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant
rs201728948	C>T	Pathogenic	Missense variant, synonymous variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs368007918	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs368529673	C>T	Pathogenic	Missense variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs387906605	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs573432153	C>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs730880286	G>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs745874032	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained, genic downstream transcript variant
rs746056280	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs747081862	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs747522386	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs747912732	->C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs749256529	G>-,GG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs751535193	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs752558942	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs756217590	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs757406252	->A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs757415879	G>A,T	Pathogenic	Stop gained, non coding transcript variant, synonymous variant, coding sequence variant
rs757688782	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs758886532	G>A	Pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs759990189	C>-	Pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant
rs760891216	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs761234904	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs762162799	C>G,T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs765034336	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs765699235	TCCATGTAGGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs766902987	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs767182886	C>T	Pathogenic	Splice donor variant
rs767539005	C>T	Likely-pathogenic	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs768128088	->G	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs768326843	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs770216458	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs772381373	G>A	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs772756089	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs773263825	A>C,G	Likely-pathogenic	Intron variant
rs774332349	C>T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs775288140	C>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs775496394	G>-,GG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs776841521	C>A,T	Likely-pathogenic	Splice donor variant
rs778165989	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs780261665	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780623622	G>-,GG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs786204774	C>A	Likely-pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs786205561	C>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs866061439	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs886039328	C>T	Pathogenic	3 prime UTR variant, non coding transcript variant, synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs886039329	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs886039330	G>A	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs886039562	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041186	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886041187	C>T	Pathogenic	Splice acceptor variant
rs886041189	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs886041417	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886041885	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886044621	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886058642	C>T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs916512411	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs988031901	C>T	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1013627013	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs1055680335	G>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517720	->TCCA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517721	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517722	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057517724	C>G	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517725	TC>AT	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057517726	T>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1057517969	C>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057518706	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs1057518863	C>A,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1057520530	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520566	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520567	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520599	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057520693	C>A	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793904	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793908	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1064793915	C>G	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064793916	G>A	Pathogenic	Downstream transcript variant, genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1064795917	->TGGT	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797078	T>C	Pathogenic	Initiator codon variant, missense variant, non coding transcript variant
rs1064797079	->TCAG	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, inframe indel
rs1064797080	TTCG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797081	C>T	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1064797082	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1085307849	GG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691385	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1131691559	C>G	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs1203706188	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant, non coding transcript variant
rs1211890738	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1299648939	C>G,T	Pathogenic	Splice acceptor variant
rs1336602322	C>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant
rs1342522878	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant, synonymous variant, downstream transcript variant
rs1342925232	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1349541188	C>A,T	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs1365148358	A>G	Likely-pathogenic	Splice donor variant
rs1368134215	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1553612617	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553612928	T>C	Likely-pathogenic	Splice acceptor variant
rs1553613303	->GTTCCTGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553613528	A>C,G	Pathogenic	Splice donor variant
rs1553614878	C>G	Pathogenic	Splice acceptor variant
rs1553849789	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553851245	G>A	Pathogenic	Downstream transcript variant, non coding transcript variant, genic downstream transcript variant, stop gained, 3 prime UTR variant, coding sequence variant
rs1553853012	TTCTCCTTTAGGTCCGACAGGGCCAGG>-	Likely-pathogenic	Genic downstream transcript variant, non coding transcript variant, inframe deletion, coding sequence variant
rs1553853022	CCAGGTTCTCCTTTAG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553854678	C>T	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs1553855868	C>A	Pathogenic	Splice acceptor variant
rs1553855974	->GGAGGCCC	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553860378	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1553862581	C>T	Pathogenic	Splice donor variant
rs1559423385	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1559435706	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1559444716	T>C	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant
rs1560219171	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1560241522	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575418015	C>A	Likely-pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1575425011	G>-	Likely-pathogenic	Downstream transcript variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575430201	C>T	Pathogenic	Non coding transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1575437481	C>AT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575439903	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442301	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442816	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575442885	C>T	Likely-pathogenic	Splice acceptor variant
rs1575466699	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575467199	C>A	Pathogenic	Splice donor variant
rs1575470363	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575472776	->TGAATATGTC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575494051	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1575495784	C>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT006382	hsa-miR-29c-3p	Luciferase reporter assay	21436257
MIRT053739	hsa-miR-29b-3p	Microarray	22942087
MIRT903179	hsa-miR-1207-5p	CLIP-seq
MIRT903180	hsa-miR-3126-5p	CLIP-seq
MIRT903181	hsa-miR-3170	CLIP-seq
MIRT903182	hsa-miR-4722-5p	CLIP-seq
MIRT903183	hsa-miR-4727-5p	CLIP-seq
MIRT903184	hsa-miR-4728-5p	CLIP-seq
MIRT903185	hsa-miR-4736	CLIP-seq
MIRT903186	hsa-miR-4755-3p	CLIP-seq
MIRT903187	hsa-miR-4763-3p	CLIP-seq
MIRT903188	hsa-miR-4769-3p	CLIP-seq
MIRT1967802	hsa-miR-29a	CLIP-seq
MIRT1967803	hsa-miR-29b	CLIP-seq
MIRT1967804	hsa-miR-29c	CLIP-seq
MIRT2506714	hsa-miR-1251	CLIP-seq
MIRT2506715	hsa-miR-191	CLIP-seq
MIRT1967802	hsa-miR-29a	CLIP-seq
MIRT1967803	hsa-miR-29b	CLIP-seq
MIRT1967804	hsa-miR-29c	CLIP-seq
MIRT903180	hsa-miR-3126-5p	CLIP-seq
MIRT903184	hsa-miR-4728-5p	CLIP-seq
MIRT2506716	hsa-miR-4731-3p	CLIP-seq
MIRT2506717	hsa-miR-4801	CLIP-seq
MIRT2506718	hsa-miR-574-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	10086338
RELA	Unknown	10086338
SMAD3	Unknown	9843964
SMAD4	Unknown	9843964
SP1	Unknown	10980546;9092567

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	19269366
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005581	Component	Collagen trimer	IEA
GO:0005590	Component	Collagen type VII trimer	TAS	9375848
GO:0005604	Component	Basement membrane	IBA
GO:0005604	Component	Basement membrane	IEA
GO:0005604	Component	Basement membrane	TAS	9375848
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0008544	Process	Epidermis development	TAS	8170945
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	IBA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	25037231, 28675934
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	TAS
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IEA
GO:0031012	Component	Extracellular matrix	ISS	22261194
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389

Other IDs

• MIM: 120120
• HGNC: 2214
• e!Ensembl: ENSG00000114270

Protein

• UniProt ID: Q02388
• Protein name: Collagen alpha-1(VII) chain (Long-chain collagen) (LC collagen)
• Protein function: Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collage
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	38 → 209	von Willebrand factor type A domain	Domain
  PF00041	fn3	233 → 318	Fibronectin type III domain	Domain
  PF00041	fn3	331 → 407	Fibronectin type III domain	Domain
  PF00041	fn3	419 → 492	Fibronectin type III domain	Domain
  PF00041	fn3	509 → 587	Fibronectin type III domain	Domain
  PF00041	fn3	599 → 677	Fibronectin type III domain	Domain
  PF00041	fn3	687 → 765	Fibronectin type III domain	Domain
  PF00041	fn3	777 → 855	Fibronectin type III domain	Domain
  PF00041	fn3	868 → 946	Fibronectin type III domain	Domain
  PF00092	VWA	1054 → 1227	von Willebrand factor type A domain	Domain
  PF01391	Collagen	1251 → 1310	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1296 → 1361	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1449 → 1504	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	1489 → 1548	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2034 → 2099	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2099 → 2158	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2257 → 2321	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2317 → 2374	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2373 → 2430	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2407 → 2465	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2466 → 2524	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2526 → 2584	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2563 → 2639	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2617 → 2694	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	2722 → 2787	Collagen triple helix repeat (20 copies)	Repeat
  PF00014	Kunitz_BPTI	2875 → 2930	Kunitz/Bovine pancreatic trypsin inhibitor domain	Domain

• Sequence:

  MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSF
  LEGLVLPFSGAASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTG
  AAILHVADHVFLPQLARPGVPKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADP
  EELKRVASQPTSDFFFFVNDFSILRTLLPLVSRRVCTTAGGVPVTRPPDDSTSAPRDLVL
  SEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSERQEVNVPAGETSVRLRGLRPL
  TEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSVPGATGYRVTW
  RVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT
  LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEY
  RLTLYTLLEGHEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRII
  VRSTQGVERTLVLPGSQTAFDLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLA
  VPGLRVVVSDATRVRVAWGPVPGASGFRISWSTGSGPESSQTLPPDSTATDITGLQPGTT
  YQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSSSVTITWTRVPGATGYRVSWH
  SAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVRTAPEPVGRVS
  RLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY
  SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHW
  QPEGGQEQSRVLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSI
  ELRVVDTSIDSVTLAWTPVSRASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEP
  GVSYIFSLTPVLDGVRGPEASVTQTPVCPRGLADVVFLPHATQDNAHRAEATRRVLERLV
  LALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQRIRDMPYMDPSGNNLGTAVVT
  AHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVMLGMAGADPEQL
  RRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG
  EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPG
  APGLKGSPGLPGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRG
  PLGDPGPRGPPGLPGTAMKGDKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGP
  PGKKGEKGDSEDGAPGLPGQPGSPGEQGPRGPPGAIGPKGDRGFPGPLGEAGEKGERGPP
  GPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPGDPAVVGPAVAGPKGEKGDVG
  PAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSGPPGEKGDPGR
  PGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE
  DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPG
  APGERGIEGFRGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAG
  KAGDPGRDGLPGLRGEQGLPGPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKG
  DSGASGREGRDGPKGERGAPGILGPQGPPGLPGPVGPPGQGFPGVPGGTGPKGDRGETGS
  KGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIVETWDESSGSFLPVPERRRGP
  KGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPSGLAGEPGKPG
  IPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG
  PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGM
  AGPEGKPGLQGPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLT
  GPTGAVGLPGPPGPSGLVGPQGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSP
  GLPGPVGPKGEPGPTGAPGQAVVGLPGAKGEKGAPGGLAGDLVGEPGAKGDRGLPGPRGE
  KGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPGPPGPPGVKGDLGLPGLPGAP
  GVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGPPGASGLKGDK
  GDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG
  DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLR
  GLLGPQGQPGAAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEK
  GDKGEAGPPGRPGLAGHKGEMGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEK
  GERGTPGIGGFPGPSGNDGSAGPPGPPGSVGPRGPEGLQGQKGERGPPGERVVGAPGVPG
  APGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQHCACQGQFIASGSRPLPSYA
  ADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPWDSDDPCSLPL
  DEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG
  TAQD

• Sequence length: 2944

Pathways

KEGG:

Protein digestion and absorption

Reactome:

Collagen degradation
Extracellular matrix organization
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
COPII-mediated vesicle transport
Integrin cell surface interactions
Anchoring fibril formation
Laminin interactions
Cargo concentration in the ER
Collagen chain trimerization

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal blistering of the skin	Likely pathogenic; Pathogenic	rs121912855, rs780261665	RCV000626608 RCV000626602
Abnormality of the skin	Likely pathogenic; Pathogenic	rs2107667545, rs2044195570, rs2107755031, rs780261665, rs121912856, rs767539005	RCV001814535 RCV001814492 RCV001814565 RCV000626601 RCV000626605 RCV001814231
COL7A1-related disorder	Pathogenic; Likely pathogenic	rs759949767, rs765529435, rs1560232515, rs2107718927, rs759634066, rs748940147, rs2107671960, rs2107660525, rs2107633400, rs2107631988, rs2107641787, rs753368984, rs1261268687, rs757715378, rs2107661505, rs2107697174, rs1233025207, rs2044234082, rs143457874, rs760891216, rs886041186, rs766902987, rs2531047469, rs775288140, rs1575418015, rs121912844, rs745318365, rs2531333188, rs2530843515, rs757415879, rs886058642, rs2530977941, rs2531337541, rs1560204600, rs746056280, rs121912832, rs121912836, rs759990189, rs121912839, rs121912842, rs121912855, rs144023803, rs760063197, rs745874032, rs988031901, rs201728948, rs768128088, rs374718902, rs780261665, rs121912856, rs1064797079, rs757406252, rs200972872, rs139318843, rs1342522878, rs767539005, rs369034739, rs1342925232, rs2043645754	RCV003405591 RCV004528479 RCV004545222 RCV004531193 RCV003898367 RCV004545825 RCV005867173 RCV003900816 RCV003910990 RCV005868372 RCV003892879 RCV003911042 RCV004529068 RCV004752096 RCV003395313 RCV003896072 RCV005869755 RCV004731493 RCV004731298 RCV003920021 RCV004529454 RCV004751409 RCV004751410 RCV004529621 RCV004529632 RCV003408704 RCV003393109 RCV003404684 RCV003402947 RCV004536824 RCV004529559 RCV004751485 RCV004750916 RCV003893727 RCV003904619 RCV003964804 RCV003952360 RCV003924843 RCV003914853 RCV004545732 RCV003894814 RCV003894815 RCV003924844 RCV004751509 RCV003422380 RCV003932531 RCV003922667 RCV004751510 RCV003972555 RCV003409573 RCV004751512 RCV004751221 RCV005869506 RCV004751568 RCV004535558 RCV003925553 RCV003413548 RCV003965570 RCV004751698 RCV004545808 RCV004528411
Dominant dystrophic epidermolysis bullosa with absence of skin	Pathogenic	rs121912841, rs121912832, rs762162799	RCV000144373 RCV000018976 RCV004786689
Epidermolysis bullosa	Pathogenic; Likely pathogenic	rs756173722, rs121912842, rs1057517721, rs1553612617	RCV003401778 RCV005241255 RCV004596175 RCV003403367
Epidermolysis bullosa dystrophica	Pathogenic; Likely pathogenic	rs2046013117, rs759579761, rs2043532784, rs2043545754, rs2043546624, rs2043632416, rs759949767, rs2043642775, rs757816953, rs113597796, rs2043678898, rs2043688497, rs2043716834, rs2043739526, rs762084565, rs2043771421, rs1465411279, rs2043785663, rs765529435, rs1249145909, rs2043856489, rs1247022294, rs1189942401, rs983476178, rs2043898537, rs2043899331, rs1800013, rs2044013947, rs1160109522, rs1397883643, rs373768300, rs200382597, rs2044077001, rs2044079243, rs1575434262, rs2044195570, rs2044208810, rs2044208947, rs2044219708, rs1410793870, rs2044224449, rs2044225406, rs2044233322, rs2044234082, rs2044247868, rs2044251759, rs746824716, rs2044302053, rs2044349915, rs2044350714, rs1186291778, rs767182886, rs2044485662, rs778035441, rs2044522375, rs2044523630, rs2044551330, rs1360704374, rs2044604844, rs2044929403, rs2044949727, rs1202682853, rs1401166141, rs2045046700, rs1156352791, rs2045124635, rs2045219860, rs2045220016, rs1241474192, rs2045289296, rs2045324382, rs1205027821, rs1575476280, rs2045388619, rs765353150, rs2045550860, rs1262422383, rs2045631974, rs2045711151, rs1482450152, rs757715378, rs2045866462, rs1235811820, rs1559441291, rs1012398135, rs2045987838, rs2044357264, rs2044681542, rs756897026, rs2045352552, rs2045393864, rs759455445, rs2045775921, rs2045934591, rs1001774733, rs1299648939, rs1333259313, rs759644973, rs371908708, rs753185460, rs1486141784, rs2045385688, rs2107710536, rs1221546428, rs2044175577, rs776841521, rs786204774, rs1654732346, rs1267995796, rs886039330, rs886041187, rs368007918, rs886041186, rs766902987, rs2531148361, rs2043693244, rs2531351123, rs757415879, rs886058642, rs773146110, rs1284183246, rs746056280, rs121912832, rs121912833, rs121912835, rs121912836, rs759990189, rs121912839, rs121912844, rs121912845, rs121912849, rs121912851, rs121912852, rs121912853, rs121912854, rs121912855, rs758886532, rs144023803, rs1057517723, rs760063197, rs916512411, rs772381373, rs768128088, rs374718902, rs762162799, rs121912856, rs1064793916, rs780623622, rs747522386, rs1131691385, rs200972872, rs1553613528, rs139318843, rs1368134215, rs1203706188, rs1211890738, rs1553612928, rs1055680335, rs1560241522, rs751535193, rs767539005, rs1032335328, rs1575466699, rs769294243, rs761927109, rs1295547257, rs765027608, rs770456964, rs746053763, rs2045798629, rs2045526309	RCV001310293 RCV001352717 RCV001352720 RCV001352719 RCV001352718 RCV001352716 RCV001352715 RCV001352713 RCV001352712 RCV001352873 RCV001352872 RCV001352871 RCV001352869 RCV001352868 RCV001352867 RCV001352866 RCV001352865 RCV001352864 RCV001352863 RCV001352862 RCV001352861 RCV001352860 RCV001352858 RCV001352827 RCV001352826 RCV001352825 RCV001352824 RCV001352823 RCV001352819 RCV001352818 RCV001352817 RCV001352816 RCV001352815 RCV001352814 RCV001352813 RCV001352771 RCV001352768 RCV001352767 RCV001352766 RCV001352764 RCV001352765 RCV001352762 RCV001352711 RCV001352710 RCV001352709 RCV001352707 RCV001352706 RCV001352705 RCV001352704 RCV001352703 RCV001352702 RCV001352701 RCV001352699 RCV001352698 RCV001352857 RCV001352856 RCV001352854 RCV001352853 RCV001352850 RCV001352846 RCV001352845 RCV001352844 RCV001352843 RCV001352842 RCV001352811 RCV001352810 RCV001352808 RCV001352807 RCV001352806 RCV001352805 RCV001352804 RCV001352802 RCV001352801 RCV001352800 RCV001352799 RCV001352757 RCV001352756 RCV001352755 RCV001352753 RCV001352752 RCV001352747 RCV001352746 RCV001352745 RCV001352744 RCV001352743 RCV001352697 RCV001352935 RCV001352934 RCV001352933 RCV001352932 RCV001352931 RCV001352929 RCV001352930 RCV001352928 RCV001831341 RCV001831360 RCV005614533 RCV001826179 RCV001826167 RCV001836392 RCV001826162 RCV005614667 RCV001844440 RCV005614736 RCV002221419 RCV002302616 RCV000169655 RCV005616513 RCV005616552 RCV001833297 RCV001352803 RCV001352754 RCV001352749 RCV001352748 RCV005616676 RCV005616679 RCV005616685 RCV000304634 RCV000271699 RCV005407206 RCV004018359 RCV001835630 RCV001831583 RCV001831584 RCV005614376 RCV001352763 RCV001826478 RCV001352821 RCV001352761 RCV001352849 RCV001352769 RCV001826479 RCV001831586 RCV001826480 RCV001352750 RCV001352770 RCV001352700 RCV000779414 RCV000778704 RCV001352848 RCV001249385 RCV001352820 RCV001352936 RCV001828378 RCV001352760 RCV000779415 RCV001833608 RCV001833603 RCV001833612 RCV001352751 RCV001148931 RCV005614416 RCV001352870 RCV001352708 RCV001829484 RCV005614422 RCV000603511 RCV000625955 RCV000714569 RCV001825505 RCV001352773 RCV000778703 RCV001352812 RCV001825596 RCV001352759 RCV001836091 RCV001833679 RCV001192887 RCV001828739 RCV001352851 RCV001352852 RCV001833792 RCV001352797
Epidermolysis bullosa dystrophica inversa, autosomal recessive	Pathogenic; Likely pathogenic	rs143457874, rs760891216, rs757415879, rs121912847, rs121912854, rs121912855, rs1057517723, rs760063197, rs775288140, rs201728948, rs768128088, rs757688782, rs387906604, rs121912856, rs1131691385, rs200972872, rs767182886, rs773263825, rs761234904, rs772756089, rs377182638	RCV001275761 RCV001275768 RCV001272351 RCV001272359 RCV000019013 RCV000019015 RCV001272356 RCV001272357 RCV001273346 RCV001275769 RCV001272346 RCV001272362 RCV000022477 RCV000022479 RCV001273343 RCV001272350 RCV001272354 RCV001272363 RCV001272361 RCV001272342 RCV001278912
Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant	Pathogenic; Likely pathogenic	rs121912833, rs201728948, rs121912856, rs200972872	RCV000018982 RCV000018980 RCV000018977 RCV000018979
Epidermolysis bullosa pruriginosa	Likely pathogenic; Pathogenic	rs2107682264, rs1276620073, rs121912855, rs144023803, rs1057518863, rs780261665, rs121912856, rs1064793916, rs1575418015, rs377182638, rs761927109, rs1164917118, rs2043645754, rs2045079112, rs765027608, rs2107680342	RCV005252122 RCV003323340 RCV001199071 RCV004816640 RCV001198317 RCV001198316 RCV001197324 RCV002463680 RCV000991328 RCV000993563 RCV005359851 RCV001197904 RCV001199217 RCV001197322 RCV004789480 RCV001594415
Epidermolysis bullosa pruriginosa, autosomal dominant	Pathogenic	rs121912834, rs121912837, rs121912848, rs1553853022	RCV000018986 RCV000018989 RCV000019006 RCV000018992
Epidermolysis bullosa pruriginosa, autosomal recessive	Pathogenic; Likely pathogenic	rs759990189, rs121912847, rs201728948, rs121912856, rs767182886	RCV000018991 RCV000019005 RCV000018981 RCV000018978 RCV000018990
Epidermolysis bullosa simplex 1A, generalized severe	Pathogenic	rs756897026	RCV006258553
Epidermolysis bullosa, pretibial, autosomal recessive	Likely pathogenic; Pathogenic	rs121912845, rs1575495784	RCV000019002 RCV000019003
Familial cancer of breast	Likely pathogenic; Pathogenic	rs200972872	RCV005899797
Finger syndactyly	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386
Generalized dominant dystrophic epidermolysis bullosa	Pathogenic; Likely pathogenic	rs2044225406, rs2045388619, rs1235811820, rs2045987838, rs2107671960, rs2107660525, rs2107717803, rs2107703081, rs2107697174, rs2107680342, rs2107675162, rs2107675136, rs2107675021, rs2107674937, rs2107674135, rs2107672816, rs2107672732, rs2107671950, rs2107636606, rs2107636603, rs2107680443, rs2107706848, rs765480571, rs2107659888, rs2107674192, rs866061439, rs766902987, rs121912846, rs121912829, rs746056280, rs121912832, rs121912836, rs121912839, rs121912842, rs121912843, rs121912844, rs121912850, rs121912855, rs144023803, rs768128088, rs1057517722, rs757688782, rs1057518706, rs762162799, rs1553854678, rs761234904, rs776841521, rs1342925232, rs749256529, rs770456964	RCV002276702 RCV002245975 RCV002245974 RCV002245973 RCV002276821 RCV001732867 RCV002277076 RCV002277077 RCV002277078 RCV002277079 RCV002277081 RCV002277082 RCV002277083 RCV002277084 RCV002277085 RCV002277086 RCV002277087 RCV002277089 RCV002277090 RCV002277091 RCV002225232 RCV002244182 RCV002244197 RCV002244235 RCV003994420 RCV002278257 RCV003318570 RCV003239282 RCV003985954 RCV000018970 RCV003318544 RCV004786274 RCV000018988 RCV000408804 RCV000018999 RCV000019000 RCV000019001 RCV000019004 RCV000019008 RCV001251179 RCV003318572 RCV002244860 RCV003318574 RCV003318573 RCV000415126 RCV002278660 RCV002279275 RCV002245038 RCV005253137 RCV002290496 RCV000991419 RCV002245880
Lung cancer	Likely pathogenic	rs2530817264	RCV005928576
Lymphoma	Pathogenic	rs767539005	RCV005909230
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs775288140	RCV005900652
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs767539005	RCV005897333
Nail dystrophy	Pathogenic	rs780261665, rs121912856	RCV000626601 RCV000626605
Nonsyndromic congenital nail disorder 4	Pathogenic	rs780261665, rs121912856	RCV000626603 RCV000626606
Nonsyndromic congenital nail disorder 8	Pathogenic; Likely pathogenic	rs121912841, rs121912834, rs121912840, rs121912839, rs780623622, rs761927109	RCV000256181 RCV000018985 RCV000022474 RCV000022473 RCV005359745 RCV005359851
Palmoplantar blistering	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386
Pretibial dystrophic epidermolysis bullosa	Pathogenic; Likely pathogenic	rs2107631937, rs2107671960, rs2107682264, rs2107661505, rs1262051629, rs886041186, rs756217590, rs1276620073, rs121912831, rs121912836, rs1211890738, rs1575418015, rs377182638, rs761927109	RCV005867005 RCV005237928 RCV005252122 RCV003314032 RCV002283913 RCV005252846 RCV005252847 RCV003323340 RCV000018975 RCV001192885 RCV002250661 RCV000991328 RCV000993563 RCV005359851
Recessive dystrophic epidermolysis bullosa	Likely pathogenic; Pathogenic	rs759579761, rs1294265690, rs762084565, rs765529435, rs1249145909, rs1189942401, rs983476178, rs1800013, rs1410793870, rs767182886, rs1156352791, rs2045388619, rs1262422383, rs1235811820, rs2045987838, rs1245411910, rs1333259313, rs370744140, rs1461012195, rs1560232515, rs371908708, rs759634066, rs369591910, rs748940147, rs2044195570, rs2107674323, rs2107731142, rs2107660525, rs1158674229, rs2107702819, rs2107637442, rs34040119, rs2107757949, rs2107706875, rs372166543, rs2045311247, rs2107631988, rs2107641787, rs2107642953, rs2107763474, rs1336686272, rs376588113, rs745691610, rs201597369, rs770304825, rs375539799, rs760460054, rs2107639823, rs753819164, rs146234310, rs2107682264, rs121912841, rs2107670544, rs1480404745, rs2107657132, rs749077987, rs2107631188, rs2107628480, rs2107788093, rs2107760970, rs1256976418, rs2107727475, rs2044824444, rs2107711734, rs2107682223, rs2107674627, rs2107663986, rs781720055, rs2107660536, rs1362309822, rs2107643652, rs2107638590, rs2107632563, rs2107632018, rs2107793500, rs2107661505, rs2107706848, rs765480571, rs2107659888, rs774890570, rs2043644681, rs2530913503, rs2531054735, rs730880285, rs730880286, rs2531155501, rs760891216, rs886039328, rs368007918, rs886041186, rs766902987, rs756217590, rs2530844081, rs1276620073, rs2531202927, rs121912853, rs2531335997, rs886044621, rs2530817264, rs2530879298, rs1002845719, rs2044058094, rs1423231619, rs2531113955, rs2043899331, rs561997536, rs2044200545, rs2531366088, rs2043530046, rs757415879, rs2531347823, rs1560204600, rs2531080753, rs2531148387, rs2531107840, rs1416352336, rs121912828, rs746056280, rs1575470363, rs121912830, rs1575442301, rs1575467199, rs121912836, rs121912840, rs121912839, rs121912843, rs121912844, rs121912845, rs121912847, rs121912849, rs121912851, rs121912852, rs121912854, rs121912855, rs2530892715, rs2530838087, rs1560231816, rs2530978135, rs2531234929, rs758886532, rs144023803, rs760063197, rs775288140, rs772381373, rs201728948, rs768128088, rs757688782, rs780261665, rs121912856, rs1064793916, rs1064797081, rs1064797082, rs1064797079, rs1064797078, rs200972872, rs1368134215, rs747081862, rs1553862581, rs770216458, rs1203706188, rs1553612617, rs1553851245, rs761234904, rs1055680335, rs1342522878, rs751535193, rs767539005, rs1560219171, rs1559423385, rs181430415, rs1032335328, rs1559435706, rs776841521, rs765699235, rs1336602322, rs1575494051, rs1575418015, rs749256529, rs377182638, rs780623622, rs752558942, rs761927109, rs770456964, rs746053763, rs121912833, rs2045526309, rs2044955528, rs2045013494, rs2043547588, rs2043715843, rs2107698884, rs2107717630, rs2107648492, rs1050797523	RCV003135992 RCV005634071 RCV002276707 RCV002276706 RCV002276705 RCV004579573 RCV002276704 RCV002276703 RCV003339611 RCV002276700 RCV001823199 RCV002245975 RCV005634101 RCV002245974 RCV002245973 RCV001823202 RCV002276720 RCV002051943 RCV003328102 RCV005635143 RCV002276722 RCV002276723 RCV005208166 RCV005635173 RCV003328126 RCV001714246 RCV001730025 RCV004798918 RCV002466270 RCV002466271 RCV001806296 RCV001807942 RCV001807956 RCV001808928 RCV001823507 RCV001823535 RCV001823611 RCV001823653 RCV003985860 RCV002276953 RCV002276954 RCV006262339 RCV002276924 RCV002276967 RCV004587247 RCV004699546 RCV004801111 RCV002276956 RCV002276957 RCV002052063 RCV005252122 RCV000225690 RCV002277044 RCV002277045 RCV002277046 RCV002277047 RCV002277049 RCV002277050 RCV002277051 RCV002277052 RCV002277053 RCV002277055 RCV002277057 RCV002277058 RCV002277061 RCV002277062 RCV002277063 RCV002277064 RCV002277065 RCV002277067 RCV002277068 RCV002277069 RCV002277072 RCV002277073 RCV002277075 RCV002277088 RCV002244182 RCV002244197 RCV002244235 RCV004785543 RCV002283712 RCV002283839 RCV002283981 RCV000157650 RCV000157651 RCV002468887 RCV001823128 RCV003989510 RCV001273339 RCV001267646 RCV002278256 RCV001261557 RCV003320014 RCV003323340 RCV003328116 RCV003328130 RCV003334418 RCV005632354 RCV003337846 RCV003338089 RCV003388736 RCV003388751 RCV003388810 RCV003985901 RCV004701730 RCV005407072 RCV005636993 RCV006269863 RCV006269864 RCV002278551 RCV004579622 RCV004011709 RCV006269934 RCV003985986 RCV003985988 RCV003985994 RCV003990517 RCV000018969 RCV000018971 RCV000018972 RCV000018973 RCV000018974 RCV000018983 RCV006261940 RCV000018993 RCV000018998 RCV000760150 RCV002243653 RCV005859470 RCV002276565 RCV000019007 RCV000019009 RCV000019010 RCV000019011 RCV000019014 RCV002276566 RCV004566635 RCV004577304 RCV004577413 RCV004578010 RCV004579644 RCV002278637 RCV000578166 RCV002278636 RCV000503323 RCV002278638 RCV005355702 RCV000454227 RCV002278635 RCV001273337 RCV000760149 RCV002250637 RCV000487447 RCV000487428 RCV000487456 RCV000487444 RCV002279273 RCV005252941 RCV002279308 RCV002279312 RCV002279310 RCV002279311 RCV000578178 RCV005632505 RCV000626021 RCV002245038 RCV000789046 RCV005860140 RCV001253741 RCV000761228 RCV000761301 RCV000761529 RCV005633676 RCV002051892 RCV000785757 RCV006257322 RCV000850363 RCV000987265 RCV000987266 RCV000991328 RCV000991419 RCV000993563 RCV003338900 RCV004789314 RCV005359851 RCV002245880 RCV003148946 RCV002225127 RCV004768965 RCV005633977 RCV001786459 RCV001261560 RCV001261559 RCV001261558 RCV001579314 RCV001580581 RCV001594414 RCV001580585
See cases	Pathogenic; Likely pathogenic	rs144023803, rs768128088, rs767539005	RCV004584380 RCV003156091 RCV003156133
Short stature	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386
Skin erosion	Pathogenic	rs780261665, rs121912856	RCV000626601 RCV000626605
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2107799999	RCV005925521
Toe syndactyly	Likely pathogenic; Pathogenic	rs1057518863, rs780261665	RCV000415010 RCV000415386
Transient bullous dermolysis of the newborn	Pathogenic; Likely pathogenic	rs2045631974, rs1235811820, rs2107672698, rs1560232515, rs2045393987, rs759634066, rs1002845719, rs760460054, rs1362309822, rs1050797523, rs2107662258, rs2107665131, rs121912849, rs2107674937, rs112850769, rs2107771861, rs774890570, rs2107741719, rs886039330, rs1276620073, rs121912834, rs121912835, rs1299648939, rs757688782, rs387906605, rs139318843, rs761927109	RCV002246333 RCV002246332 RCV006449390 RCV002246370 RCV002246371 RCV005232307 RCV002246499 RCV002246626 RCV002246697 RCV002249006 RCV002249007 RCV002249008 RCV002249009 RCV002249010 RCV002249012 RCV002249013 RCV002249828 RCV002249830 RCV004816465 RCV003323340 RCV000018984 RCV000018987 RCV000019012 RCV000477818 RCV000022478 RCV002248751 RCV002249671

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2107760981	-
Abnormality of the thyroid gland	Uncertain significance	rs147040026	RCV000415424
Amelogenesis imperfecta type 1	Conflicting classifications of pathogenicity; Uncertain significance	rs141787797, rs2045486359, rs149011081	RCV003154269 RCV003154569 RCV003153879
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs763339609, rs74390291, rs116005007, rs1012398135	RCV005930509 RCV005891150 RCV005898730 RCV005903181
COL7A1-related epidermolysis bullosa	Uncertain significance	rs773815805, rs2044774392	RCV001293854 RCV001293855
Colon adenocarcinoma	Benign; Likely benign	rs66737445	RCV005869336
Colorectal cancer	Benign; Likely benign	rs66737445, rs566181351	RCV005869342 RCV005870973
Duane retraction syndrome	Conflicting classifications of pathogenicity	rs121912838	RCV003883119
Epidermal nevus	Uncertain significance	rs147040026	RCV000415424
Epidermolytic ichthyosis	Uncertain significance	rs147040026	RCV000415424
Familial pancreatic carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs66737445, rs116005007	RCV005869340 RCV005898732
Gastric cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs66737445, rs116005007	RCV005869343 RCV005898734
Hepatoblastoma	Likely benign; Conflicting classifications of pathogenicity	rs147470888, rs200396882	RCV001843895 RCV001843513
Hepatocellular carcinoma	Benign; Likely benign	rs66737445	RCV005869337
Ichthyosis	Uncertain significance	rs147040026	RCV000415424
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs66737445	RCV005869341
Melanoma	Benign; Likely benign	rs34360255	RCV005913139
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs66737445, rs116005007	RCV005869339 RCV005898731
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign; Benign	rs747790197, rs780377676, rs34360255, rs144756110	RCV005912762 RCV005934706 RCV005913137 RCV005913906
Sarcoma	Conflicting classifications of pathogenicity	rs116005007	RCV005898733
Skin fragility with non-scarring blistering	Conflicting classifications of pathogenicity	rs772900092	RCV000626604
Uterine carcinosarcoma	Benign; Likely benign	rs34360255	RCV005913138
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign; Likely benign	rs116005007, rs34360255	RCV005898735 RCV005913140

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	32031203
Amyloidosis	Associate	25566895
amyloidosis IX	Associate	25566895
Anemia Aplastic	Associate	9284109
Aortic Valve Insufficiency	Associate	12558638
Arnold Chiari Malformation	Associate	33974636
Blister	Associate	19726672, 20720561, 25569093, 27434145, 31578311, 35121199, 35163654, 36901775, 8288900, 8592061, 9242516, 9668111
Carcinoma Adenoid Cystic	Associate	1850773
Carcinoma Renal Cell	Associate	32789468
Carcinoma Squamous Cell	Associate	17853916, 35993054, 36901775, 37077084
Chromosome Disorders	Associate	38459694
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	19450397
Disease	Associate	33081018
Ectodermal Dysplasia Skin Fragility Syndrome	Associate	1281864, 23591773, 29326176, 31578311
Epidermolysis Bullosa	Associate	1347297, 20574443, 25569093, 27434145, 29182795, 30280950, 32142798, 33921969, 35163654, 35446444, 36430820, 36578049, 36901775, 38368142, 7706758, 7837248, 7883979, 8051117, 8088783, 8170945
Epidermolysis Bullosa Acquisita	Associate	29182795, 35464429, 36901775, 9740253, 9856843
Epidermolysis Bullosa Dystrophica	Associate	10233777, 10383749, 10469327, 10504458, 11274208, 12485454, 12558638, 1281864, 12880418, 1358979, 16185268, 16189623, 16484981, 16557343, 16710310, 17282977, 17495952, 17853916, 18385758, 18450758, 19399267, 19435799, 19450397, 20169300, 20190017, 20574443, 20720561, 20818854, 20920254, 21124339, 21448560, 21753764, 21879237, 22002724, 22515571, 22564523, 23226319, 23546300, 24007552, 24147053, 24317394, 24577406, 25222259, 25308504, 26143532, 26380979, 27012560, 27434145, 27899325, 29182795, 29267469, 29326176, 29441510, 29963685, 30684555, 31065125, 31167965, 31578311, 32142798, 32537942, 32926178, 32947957, 33081018, 33333127, 33491668, 33609734, 33670258, 34046686, 34286919, 34435747, 34749770, 34884578, 34948168, 35077577, 35121199, 35163654, 35213017, 35225434, 35243691, 35304249, 35446444, 35464429, 35967298, 36253825, 36385635, 36901775, 37077084, 37148821, 37556444, 38255836, 38272206, 38366625, 38368142, 39628969, 39837388, 7593178, 7706758, 7738360, 7837248, 7861014, 7883979, 8037207, 8088783, 8106757, 8170945, 8288900, 8544200, 8592061, 8618004, 8618018, 8644730, 8755915, 8757758, 8900535, 9008239, 9083095, 9182828, 9215684, 9242516, 9284109, 9284110, 9326325, 9347800, 9562977, 9668111, 9740253, 9804332, 9856843, 9856844
Epidermolysis Bullosa Dystrophica	Inhibit	33509245
Epidermolysis Bullosa Dystrophica Inversa Autosomal Recessive	Associate	1431215
Epidermolysis bullosa dystrophica Pasini type	Associate	10233777, 1347297, 1358979, 1377750, 15115517, 16189623, 16557343, 1680286, 19726672, 22515571, 7861014, 8170945, 8288900, 8644730, 9347800, 9406826, 9718359
Epidermolysis bullosa inversa dystrophica	Associate	1431215
Epidermolysis Bullosa Junctional	Associate	10469327
Epidermolysis bullosa pretibial	Associate	16557343, 16971478, 36901775, 7738360, 8644729, 8900535, 9856843
Epidermolysis Bullosa Pruriginosa	Associate	10383749, 12353709, 15115517, 19197535, 21879237, 22515571, 25222259, 25566895, 36578049, 37676173, 9182828
Epidermolysis Bullosa Simplex	Associate	33921969
Epidermolysis bullosa with pyloric atresia	Associate	34286919
Factor VII Deficiency	Associate	29326176
Fibrosis	Associate	29326176
Fragile X Syndrome	Associate	26380979
Gallbladder Neoplasms	Associate	40527859
Genetic Diseases Inborn	Associate	35446444
Genetic Predisposition to Disease	Associate	8618004, 8618018
Hand Deformities	Associate	20574443
Hypoxia	Associate	32031203
Idiopathic Interstitial Pneumonias	Associate	28821283
Idiopathic Pulmonary Fibrosis	Stimulate	38203769
Inflammation	Associate	29326176, 33670258
Knuckle pads leuconychia and sensorineural deafness	Associate	8618021, 8752681, 9347800
Larsen Syndrome	Associate	7485161
Laryngeal Neoplasms	Inhibit	29499655
Melanosis	Associate	35840442
Metrorrhagia	Associate	35077577
Muscular Dystrophy Duchenne	Associate	7883979, 8051117
Nail Diseases	Associate	9856844
Neoplasm Metastasis	Associate	34512204, 7512792
Neoplasms	Associate	1850773, 22564523, 29499655, 35361846, 35993054
Neoplasms Glandular and Epithelial	Associate	35304249
Osteogenesis Imperfecta Type VII	Associate	16557343, 20720561, 24317394, 27434145, 27669223, 35121199, 36901775
Pathological Conditions Signs and Symptoms	Associate	21448560
Sarcoglycanopathies	Associate	8088783
Skin Diseases	Associate	29130490, 29326176
Skin Diseases Vesiculobullous	Associate	18450758
Skin Neoplasms	Associate	19435799, 29326176
Spherocytosis Type 1	Associate	7706758
Squamous Cell Carcinoma of Head and Neck	Associate	34999279
Stomach Neoplasms	Stimulate	34512204
Stomach Neoplasms	Associate	35120467, 35774273
Toenail Dystrophy Isolated	Associate	25566895
Transient bullous dermolysis of the newborn	Associate	9406826, 9856844
Urinary Bladder Neoplasms	Associate	7512792
Ventricular Fibrillation	Associate	7837248