BLTP1 (bridge-like lipid transfer protein family member 1)

Gene

• Entrez ID: 84162
• Gene name: Bridge-like lipid transfer protein family member 1
• Gene symbol: BLTP1
• Synonyms: ALKKUCS, FSA, KIAA1109, Tweek
• Chromosome: 4
• Chromosome location: 4q27

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs730882245	T>A	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs770791100	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs775516790	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs777407076	T>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs886041465	->A	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs1051597475	C>T	Pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs1460624416	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1554025656	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1554059454	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1579206545	A>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018363	hsa-miR-335-5p	Microarray	18185580
MIRT041900	hsa-miR-484	CLASH	23622248
MIRT039681	hsa-miR-615-3p	CLASH	23622248
MIRT163985	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT163987	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT163994	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT163995	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT164004	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT163999	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT502162	hsa-miR-944	PAR-CLIP	21572407
MIRT163998	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT164012	hsa-miR-4528	PAR-CLIP	21572407
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT502161	hsa-miR-1286	PAR-CLIP	21572407
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT502159	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163985	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT163987	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT163994	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT163995	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT164004	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT163999	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT502162	hsa-miR-944	PAR-CLIP	24398324
MIRT163998	hsa-miR-410-3p	PAR-CLIP	24398324
MIRT164012	hsa-miR-4528	PAR-CLIP	24398324
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT502161	hsa-miR-1286	PAR-CLIP	24398324
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT502159	hsa-miR-340-5p	PAR-CLIP	24398324
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT164002	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT163987	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT163985	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT163987	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT163994	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT163995	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT164004	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT163999	hsa-miR-497-3p	PAR-CLIP	21572407
MIRT502162	hsa-miR-944	PAR-CLIP	21572407
MIRT163998	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT164012	hsa-miR-4528	PAR-CLIP	21572407
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	21572407
MIRT502161	hsa-miR-1286	PAR-CLIP	21572407
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT502159	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT163985	hsa-miR-25-3p	PAR-CLIP	24398324
MIRT163987	hsa-miR-32-5p	PAR-CLIP	24398324
MIRT163994	hsa-miR-363-3p	PAR-CLIP	24398324
MIRT163988	hsa-miR-92a-3p	PAR-CLIP	24398324
MIRT163995	hsa-miR-367-3p	PAR-CLIP	24398324
MIRT164002	hsa-miR-92b-3p	PAR-CLIP	24398324
MIRT164004	hsa-miR-873-5p	PAR-CLIP	24398324
MIRT163999	hsa-miR-497-3p	PAR-CLIP	24398324
MIRT502162	hsa-miR-944	PAR-CLIP	24398324
MIRT163998	hsa-miR-410-3p	PAR-CLIP	24398324
MIRT164012	hsa-miR-4528	PAR-CLIP	24398324
MIRT163993	hsa-miR-219a-2-3p	PAR-CLIP	24398324
MIRT164014	hsa-miR-5589-3p	PAR-CLIP	24398324
MIRT502161	hsa-miR-1286	PAR-CLIP	24398324
MIRT502160	hsa-miR-4722-5p	PAR-CLIP	24398324
MIRT502159	hsa-miR-340-5p	PAR-CLIP	24398324
MIRT502158	hsa-miR-190a-3p	PAR-CLIP	24398324
MIRT1088863	hsa-miR-1184	CLIP-seq
MIRT1088864	hsa-miR-1205	CLIP-seq
MIRT1088865	hsa-miR-128	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088867	hsa-miR-219-2-3p	CLIP-seq
MIRT1088868	hsa-miR-23a	CLIP-seq
MIRT1088869	hsa-miR-23b	CLIP-seq
MIRT1088870	hsa-miR-23c	CLIP-seq
MIRT1088871	hsa-miR-25	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT1088875	hsa-miR-3065-5p	CLIP-seq
MIRT1088876	hsa-miR-3158-5p	CLIP-seq
MIRT1088877	hsa-miR-3166	CLIP-seq
MIRT1088878	hsa-miR-32	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088881	hsa-miR-3591-5p	CLIP-seq
MIRT1088882	hsa-miR-3613-3p	CLIP-seq
MIRT1088883	hsa-miR-363	CLIP-seq
MIRT1088884	hsa-miR-367	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088887	hsa-miR-4263	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088892	hsa-miR-4727-3p	CLIP-seq
MIRT1088893	hsa-miR-4771	CLIP-seq
MIRT1088894	hsa-miR-4778-5p	CLIP-seq
MIRT1088895	hsa-miR-4799-5p	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088898	hsa-miR-544	CLIP-seq
MIRT1088899	hsa-miR-548n	CLIP-seq
MIRT1088900	hsa-miR-548t	CLIP-seq
MIRT1088901	hsa-miR-576-5p	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088903	hsa-miR-92a	CLIP-seq
MIRT1088904	hsa-miR-92b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT2023510	hsa-miR-1264	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT2023511	hsa-miR-338-5p	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088881	hsa-miR-3591-5p	CLIP-seq
MIRT2023512	hsa-miR-3618	CLIP-seq
MIRT2023513	hsa-miR-375	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088892	hsa-miR-4727-3p	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088863	hsa-miR-1184	CLIP-seq
MIRT1088864	hsa-miR-1205	CLIP-seq
MIRT2254404	hsa-miR-1208	CLIP-seq
MIRT2023510	hsa-miR-1264	CLIP-seq
MIRT1088865	hsa-miR-128	CLIP-seq
MIRT1088866	hsa-miR-140-5p	CLIP-seq
MIRT1088867	hsa-miR-219-2-3p	CLIP-seq
MIRT1088871	hsa-miR-25	CLIP-seq
MIRT1088872	hsa-miR-27a	CLIP-seq
MIRT1088873	hsa-miR-27b	CLIP-seq
MIRT1088874	hsa-miR-300	CLIP-seq
MIRT2254405	hsa-miR-3134	CLIP-seq
MIRT1088876	hsa-miR-3158-5p	CLIP-seq
MIRT1088877	hsa-miR-3166	CLIP-seq
MIRT1088878	hsa-miR-32	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT2254406	hsa-miR-340	CLIP-seq
MIRT1088880	hsa-miR-3545-5p	CLIP-seq
MIRT1088882	hsa-miR-3613-3p	CLIP-seq
MIRT2023512	hsa-miR-3618	CLIP-seq
MIRT1088883	hsa-miR-363	CLIP-seq
MIRT1088884	hsa-miR-367	CLIP-seq
MIRT2023513	hsa-miR-375	CLIP-seq
MIRT1088885	hsa-miR-381	CLIP-seq
MIRT1088886	hsa-miR-410	CLIP-seq
MIRT1088888	hsa-miR-4275	CLIP-seq
MIRT2254407	hsa-miR-4420	CLIP-seq
MIRT1088889	hsa-miR-4460	CLIP-seq
MIRT2254408	hsa-miR-4534	CLIP-seq
MIRT1088890	hsa-miR-4666-3p	CLIP-seq
MIRT2254409	hsa-miR-4672	CLIP-seq
MIRT1088891	hsa-miR-4678	CLIP-seq
MIRT1088893	hsa-miR-4771	CLIP-seq
MIRT1088894	hsa-miR-4778-5p	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT1088897	hsa-miR-513a-5p	CLIP-seq
MIRT1088898	hsa-miR-544	CLIP-seq
MIRT1088902	hsa-miR-888	CLIP-seq
MIRT1088903	hsa-miR-92a	CLIP-seq
MIRT1088904	hsa-miR-92b	CLIP-seq
MIRT1088879	hsa-miR-323b-3p	CLIP-seq
MIRT2254409	hsa-miR-4672	CLIP-seq
MIRT1088896	hsa-miR-495	CLIP-seq
MIRT2556841	hsa-miR-3651	CLIP-seq
MIRT2556842	hsa-miR-4719	CLIP-seq
MIRT2556843	hsa-miR-520d-5p	CLIP-seq
MIRT2556844	hsa-miR-524-5p	CLIP-seq
MIRT2556845	hsa-miR-561	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001558	Process	Regulation of cell growth	NAS	17190194
GO:0005515	Function	Protein binding	IPI	20195357
GO:0005634	Component	Nucleus	NAS	17190194
GO:0006909	Process	Phagocytosis	IMP	31540829
GO:0016020	Component	Membrane	NAS	16632497
GO:0016021	Component	Integral component of membrane	IEA
GO:0016197	Process	Endosomal transport	IMP	30906834
GO:0030856	Process	Regulation of epithelial cell differentiation	NAS	17190194
GO:0032456	Process	Endocytic recycling	IMP	30906834
GO:0048488	Process	Synaptic vesicle endocytosis	IBA	21873635
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 611565
• HGNC: 26953
• e!Ensembl: ENSG00000138688

Protein

• UniProt ID: Q2LD37
• Protein name: Bridge-like lipid transfer protein family member 1 (Fragile site-associated protein)
• Protein function: Tube-forming lipid transport protein which provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (Probable). Plays a role in endosomal trafficking and endosome recycling. Also invo
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10479	FSA_C	4384 → 4902	Fragile site-associated protein C-terminus	Family
  PF10479	FSA_C	4898 → 4989	Fragile site-associated protein C-terminus	Family

• Sequence:

  MDQRKNESIVPSITQLEDFLTEHNSNVVWLLVATILSCGWIIYLTYYNSRNVGLILTLVL
  NRLYKHGYIHIGSFSFSVLSGKVMVREIYYITEDMSIRIQDGFIIFRWWKMYNPKQKQHD
  PKAETRLYITVNDFEFHVYNRSDLYGRLQELFGLEPTIIPPKKDDDKTREIGRTRTQSKI
  ERVKVKTESQDPTSSWRSLIPVIKVNVSTGRLAFGNHYQPQTLCINFDDAFLTYTTKPPS
  SHLDQFMHIVKGKLENVRVMLVPSPRYVGLQNDEPPRLMGEGFVVMQSNDVDIYYYMDEP
  GLVPEETEENIEGEMSSEDCKLQDLPPCWGLDIVCGKGTDFNYGPWADRQRDCLWKFFFP
  PDYQVLKVSEIAQPGRPRQILAFELRMNIIADATIDLLFTKNRETNAVHVNVGAGSYLEI
  NIPMTVEENGYTPAIKGQLLHVDATTSMQYRTLLEAEMLAFHINASYPRIWNMPQTWQCE
  LEVYKATYHFIFAQKNFFTDLIQDWSSDSPPDIFSFVPYTWNFKIMFHQFEMIWAANQHN
  WIDCSTKQQENVYLAACGETLNIDFSLPFTDFVPATCNTKFSLRGEDVDLHLFLPDCHPS
  KYSLFMLVKNCHPNKMIHDTGIPAECQSGQKTVKPKWRNVTQEKSGWVECWTVPSVMLTI
  DYTWHPIYPQKADEQLKQSLSEMEETMLSVLRPSQKTSDRVVSSPSTSSRPPIDPSELPP
  DKLHVEMELSPDSQITLYGPLLNAFLCIKENYFGEDDMYMDFEEVISSPVLSLSTSSSSG
  WTAVGMENDKKENEGSAKSIHPLALRPWDITVLVNLYKVHGRLPVHGTTDGPECPTAFLE
  RLCFEMKKGFRETMLQLILSPLNVFVSDNYQQRPPVDEVLREGHINLSGLQLRAHAMFSA
  EGLPLGSDSLEYAWLIDVQAGSLTAKVTAPQLACLLEWGQTFVFHVVCREYELERPKSVI
  ICQHGIDRRFCESKLSCIPGPCPTSDDLKYTMIRLAVDGADIYIVEHGCATNIKMGAIRV
  ANCNLHNQSVGEGISAAIQDFQVRQYIEQLNNCRIGLQPAVLRRAYWLEAGSANLGLITV
  DIALAADHHSKHEAQRHFLETHDARTKRLWFLWPDDILKNKRCRNKCGCLGGCRFFGGTV
  TGLDFFKLEELTPSSSSAFSSTSAESDMYYGQSLLQPGEWIITKEIPKIIDGNVNGMKRK
  EWENKSVGIEVERKTQHLSLQVPLRSHSSSSSSEENSSSSAAQPLLAGEKESPSSVADDH
  LVQKEFLHGTKRDDGQASIPTEISGNSPVSPNTQDKSVGQSPLRSPLKRQASVCSTRLGS
  TKSLTAAFYGDKQPVTVGVQFSSDVSRSDENVLDSPKQRRSFGSFPYTPSADSNSFHQYR
  SMDSSMSMADSEAYFSAAEEFEPISSDEGPGTYPGRKKKKKQTQQIDYSRGSIYHSVEGP
  LTGHGESIQDSRTLPFKTHPSQASFVSALGGEDDVIEHLYIVEGEKTVESEQITPQQPVM
  NCYQTYLTQFQVINWSVKHPTNKRTSKSSLHRPLDLDTPTSEESSSSFEQLSVPTFKVIK
  QGLTANSLLDRGMQLSGSTSNTPYTPLEKKLADNTDDETLTEEWTLDQPVSQTRTTAIVE
  VKGTVDIVLTPLVAEALDRYIEAMVHCASTRHPAAIVDDLHAKVLREAVQNSKTTFSENL
  SSKQDIRGTKTEQSTIGTTNQGQAQTNLTMKQDNVTIKGLQTNVSIPKVNLCLLQASVEE
  SPTTAPSRSVTHVSLVALCFDRIATQVRMNRGVVEETSNNAEPGRTSNFDRYVHATKMQP
  QSSGSLRSNAGAEKGKEIAAKLNIHRVHGQLRGLDTTDIGTCAITAIPFEKSKVLFTLEE
  LDEFTFVDETDQQAVPDVTRIGPSQEKWGWIMFECGLENLTIKGGRQSGAVLYNSFGIMG
  KASDTERGGVLTSNNSSDSPTGSGYNTDVSDDNLPCDRTSPSSDLNGNSVSDEQDEGVES
  DDLKKDLPLMPPPPDSCSMKLTIKEIWFSFAAPTNVRSHTHAFSRQLNLLSTATPAVGAW
  LVPIDQLKSSLNKLETEGTLRICAVMGCIMTEALENKSVHFPLRSKYNRLTKVARFLQEN
  PSCLLCNILHHYLHQANYSIIDDATMSDGLPALVTLKKGLVALARQWMKFIVVTPAFKGV
  SLHRPAQPLKPQIAMDHEHEDGLGLDNGGGLQSDTSADGAEFEFDAATVSEHTMLLEGTA
  NRPPPGSSGPVTGAEIMRKLSKTHTHSDSALKIKGIHPYHSLSYTSGDTATDSPVHVGRA
  GMPVKDSPRKESLLSYLTGSFPSLHNLLEGTPQRSSAAVKSSSLTRTGNTVATDMLSEHP
  LLSEPSSVSFYNWMSNAVGNRGSVLQESPVTKSGHNSLPTGVAPNLPTIPSASDFNTVLS
  SDQNTLDGTHSQHSTSQDDVAGVEEANQGFPAVQLADAQVVFKPLLSHTGIQSQDTMPFC
  YRMYFGEHLSFSGTLDCLRADIVDSDTAKERKGKRARRQGHVNLPPLEFKPALMLGTFSI
  SAVVMEKSVCTPQNSTSALSFHDLSKRYYNTFHCNFTISCQSISQHVDMALVRLIHQFST
  MIDDIKATQTDIKLSRYTAGSASPTPTFKTRKHRDFRSSDFSRSSRGSLNGGNRVNNAKN
  KRTNNENNKKESRNKNSLGRSERRTSKVSRKGSKDVVDHMTIHMDDSDSITVSEQSEPSA
  ECWQNMYKLLNFYSLISDPTGILEKSSETFGPAGVRSPTEPTCKVVFENEQDNSSLTKTQ
  RKRSLVTSEPQHVTLIVFGIGMVNRTHLEADIGGLTMESELKRIHGSFTLKEKMKDVLHQ
  KMTETCATAHIGGVNIVLLEGITPNIQLEDFPTSPTSTAKQEFLTVVKCSIAKSQALYSA
  QRGLKTNNAAVFKVGAISINIPQHPATLHSMMVRSSHQLSKQISDLIRQPSTAPQPVKED
  IATPLPSEKTPTSVNQTPVETNEFPQLPEGLEKKPIVLKFSAMLDGIAIGAALLPSLKAE
  YKMGRMRSHGMTGAQTRFTFELPNHRLRFTSKVSATDMSTIPPSASLNLPPVTMSGKYIM
  EEHDSYSDQVWSIDELPSKQGYYLQGNYLRCVAEVGSFEHNLTTDLLNHLVFVQKVFMKE
  VNEVIQKVSGGEQPIPLWNEHDGTADGDKPKILLYSLNLQFKGIQVTATTPSMRAVRFET
  GLIELELSNRLQTKASPGSSSYLKLFGKCQVDLNLALGQIVKHQVYEEAGSDFHQVAYFK
  TRIGLRNALREEISGSSDREAVLITLNRPIVYAQPVAFDRAVLFWLNYKAAYDNWNEQRM
  ALHKDIHMATKEVVDMLPGIQQTSAQAFGTLFLQLTVNDLGICLPITNTAQSNHTGDLDT
  GSALVLTIESTLITACSSESLVSKGHFKNFCIRFADGFETSWDDWKPEIHGDLVMNACVV
  PDGTYEVCSRTTGQAAAESSSAGTWTLNVLWKMCGIDVHMDPNIGKRLNALGNTLTTLTG
  EEDIDDIADLNSVNIADLSDEDEVDTMSPTIHTEATDYRRQAASASQPGELRGRKIMKRI
  VDIRELNEQAKVIDDLKKLGASEGTINQEIQRYQQLESVAVNDIRRDVRKKLRRSSMRAA
  SLKDKWGLSYKPSYSRSKSISASGRPPLKRMERASSRVGETEELPEIRVDAASPGPRVTF
  NIQDTFPEETELDLLSVTIEGPSHYSSNSEGSCSVFSSPKTPGGFSPGIPFQTEEGRRDD
  SLSSTSEDSEKDEKDEDHERERFYIYRKPSHTSRKKATGFAAVHQLFTERWPTTPVNRSL
  SGTATERNIDFELDIRVEIDSGKCVLHPTTLLQEHDDISLRRSYDRSSRSLDQDSPSKKK
  KFQTNYASTTHLMTGKKVPSSLQTKPSDLETTVFYIPGVDVKLHYNSKTLKTESPNASRG
  SSLPRTLSKESKLYGMKDSATSPPSPPLPSTVQSKTNTLLPPQPPPIPAAKGKGSGGVKT
  AKLYAWVALQSLPEEMVISPCLLDFLEKALETIPITPVERNYTAVSSQDEDMGHFEIPDP
  MEESTTSLVSSSTSAYSSFPVDVVVYVRVQPSQIKFSCLPVSRVECMLKLPSLDLVFSSN
  RGELETLGTTYPAETLSPGGNATQSGTKTSASKTGIPGSSGLGSPLGRSRHSSSQSDLTS
  SSSSSSGLSFTACMSDFSLYVFHPYGAGKQKTAVSGLTPGSGGLGNVDEEPTSVTGRKDS
  LSINLEFVKVSLSRIRRSGGASFFESQSVSKSASKMDTTLINISAVCDIGSASFKYDMRR
  LSEILAFPRAWYRRSIARRLFLGDQTINLPTSGPGTPDSIEGVSQHLSPESSRKAYCKTW
  EQPSQSASFTHMPQSPNVFNEHMTNSTMSPGTVGQSLKSPASIRSRSVSDSSVPRRDSLS
  KTSTPFNKSNKAASQQGTPWETLVVFAINLKQLNVQMNMSNVMGNTTWTTSGLKSQGRLS
  VGSNRDREISMSVGLGRSQLDSKGGVVGGTIDVNALEMVAHISEHPNQQPSHKIQITMGS
  TEARVDYMGSSILMGIFSNADLKLQDEWKVNLYNTLDSSITDKSEIFVHGDLKWDIFQVM
  ISRSTTPDLIKIGMKLQEFFTQQFDTSKRALSTWGPVPYLPPKTMTSNLEKSSQEQLLDA
  AHHRHWPGVLKVVSGCHISLFQIPLPEDGMQFGGSMSLHGNHMTLACFHGPNFRSKSWAL
  FHLEEPNIAFWTEAQKIWEDGSSDHSTYIVQTLDFHLGHNTMVTKPCGALESPMATITKI
  TRRRHENPPHGVASVKEWFNYVTATRNEELNLLRNVDANNTENSTTVKNSSLLSGFRGGS
  SYNHETETIFALPRMQLDFKSIHVQEPQEPSLQDASLKPKVECSVVTEFTDHICVTMDAE
  LIMFLHDLVSAYLKEKEKAIFPPRILSTRPGQKSPIIIHDDNSSDKDREDSITYTTVDWR
  DFMCNTWHLEPTLRLISWTGRKIDPVGVDYILQKLGFHHARTTIPKWLQRGVMDPLDKVL
  SVLIKKLGTALQDEKEKKGKDKEEH

• Sequence length: 5005

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Alkuraya-kucinskas syndrome	ALKURAYA-KUCINSKAS SYNDROME	rs730882245, rs1554025656, rs775516790, rs1051597475, rs1554059454, rs1579206545	29290337, 30906834, 25558065, 28749478
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	31619474, 29785011, 21150878, 30929738, 21907864
Autoimmune diseases	Autoimmune Diseases	rs41285370, rs869025224	21383967
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Dermatitis	Dermatitis, Atopic	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25574825
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	19430480, 25751624
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919, 23128233
Lissencephaly	Lissencephaly	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	22190364
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	25574825
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	20453842

Unknown
Disease name	Disease term	dbSNP ID	References
Celiac disease	Celiac Disease	rs2305764, rs35218876	17558408, 24999842, 25920553, 20190752
Cerebellar hypoplasia	Cerebellar Hypoplasia
Clinodactyly	Clinodactyly of fingers, Clinodactyly
Congenital camptodactyly	Congenital Camptodactyly
Congenital clubfoot	Congenital clubfoot
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	26192919
Dandy-walker syndrome	Dandy-Walker Syndrome
Eczema	Eczema		30595370
High palate	Byzanthine arch palate
Hyperopia	Hyperopia
Immune system diseases	Immune System Diseases		21383967
Cystic hygroma	Lymphangioma, Cystic
Mental depression	Major Depressive Disorder	rs587778876, rs587778877	30718901, 29942085
Micrognathism	Micrognathism
Mood disorder	Mood Disorders		29942085
Neck webbing	Neck webbing
Neuronal heterotopia	Neuronal heterotopia
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Penis agenesis	Penis agenesis
Plagiocephaly	Plagiocephaly
Pleural effusion	Pleural effusion disorder
Posteriorly rotated ear	Posteriorly rotated ear
Sclerosing cholangitis	Primary sclerosing cholangitis		22521342
Strabismus	Strabismus
Ulcerative colitis	Ulcerative Colitis		26192919