ASPM (assembly factor for spindle microtubules)

Gene

• Entrez ID: 259266
• Gene name: Assembly factor for spindle microtubules
• Gene symbol: ASPM
• Synonyms: ASP, Calmbp1, MCPH5
• Chromosome: 1
• Chromosome location: 1q31.3
• Summary: This gene is the human ortholog of the Drosophila melanogaster `abnormal spindle` gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs115594989	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs118010078	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, intron variant, coding sequence variant
rs137852994	G>A	Pathogenic	Stop gained, coding sequence variant
rs137852995	C>T	Pathogenic	Stop gained, coding sequence variant
rs137852996	G>A	Pathogenic	Stop gained, coding sequence variant
rs137852997	A>C,G	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs139317695	T>A,G	Pathogenic, likely-benign, benign	Stop gained, missense variant, coding sequence variant
rs139367209	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, intron variant, coding sequence variant
rs140602858	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs141715950	T>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs142587742	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs142901223	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs143822761	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs143931757	A>C,G	Pathogenic, benign	Coding sequence variant, synonymous variant, stop gained
rs145489194	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant
rs147160053	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs147622433	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs148294838	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs148328539	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, missense variant, coding sequence variant
rs149228705	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, stop gained, coding sequence variant
rs149303254	T>C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs149690383	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150642468	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs151142538	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs183395856	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant
rs188955444	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs189678019	A>C,G	Pathogenic, likely-benign	Stop gained, intron variant, coding sequence variant, synonymous variant
rs190693455	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs199422131	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422133	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422134	G>A,C,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs199422135	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422136	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422137	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422138	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422139	CTTGAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422141	C>A,G	Pathogenic	Stop gained, missense variant, coding sequence variant
rs199422142	TTAGGATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422143	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422144	TAAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422146	CT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs199422147	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422148	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422149	T>C	Pathogenic	Intron variant
rs199422150	C>A,T	Pathogenic, likely-pathogenic	Intron variant
rs199422151	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199422152	C>T	Pathogenic	Stop gained, coding sequence variant
rs199422153	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422154	C>T	Pathogenic	Missense variant, coding sequence variant
rs199422155	A>C	Pathogenic	Stop gained, coding sequence variant
rs199422156	AGCGT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422157	G>C	Pathogenic	Stop gained, coding sequence variant
rs199422158	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422159	G>C	Pathogenic	Stop gained, coding sequence variant
rs199422160	C>T	Pathogenic	Splice donor variant
rs199422161	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs199422162	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422163	->T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422164	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422165	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422166	TA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422167	T>-,TT	Pathogenic	Stop gained, intron variant, frameshift variant, coding sequence variant
rs199422168	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422169	AT>-,ATAT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422170	GTTT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422171	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422172	ATATA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422173	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422174	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422175	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422176	TT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422177	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422178	A>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422179	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422180	CT>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs199422181	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs199422182	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422183	->AATG	Pathogenic	Frameshift variant, coding sequence variant
rs199422184	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422185	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422186	T>A	Pathogenic	Stop gained, coding sequence variant
rs199422187	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422188	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422189	G>C	Pathogenic	Stop gained, coding sequence variant
rs199422190	T>A	Pathogenic	Stop gained, coding sequence variant
rs199422191	->C	Pathogenic	Frameshift variant, coding sequence variant
rs199422192	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422193	AATTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422194	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422195	G>A	Pathogenic	Stop gained, coding sequence variant
rs199422196	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422197	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs199422198	A>G,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199422199	T>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs199422200	C>A	Pathogenic	Splice donor variant
rs199422201	G>T	Pathogenic	Stop gained, coding sequence variant
rs199910503	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs201362977	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs202193200	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs370972881	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs374040448	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, intron variant
rs375911555	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs555866170	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs563858170	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs587783211	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783215	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs587783216	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783220	AA>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783221	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783225	A>G	Pathogenic	Splice donor variant
rs587783227	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783228	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783230	A>C	Pathogenic	Stop gained, coding sequence variant
rs587783238	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783239	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783240	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783245	CT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783247	A>T	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783248	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783258	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783259	AGAG>-,AG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783263	->CAGT	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783265	AG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783268	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783269	T>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783272	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783275	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs587783277	TT>-,T	Pathogenic	Coding sequence variant, frameshift variant
rs587783278	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783280	GT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783282	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant, intron variant
rs587783283	TT>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs587783285	C>T	Pathogenic	Stop gained, coding sequence variant
rs587783287	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783288	A>T	Pathogenic	Stop gained, coding sequence variant
rs587783289	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs587783292	G>A	Pathogenic	Stop gained, coding sequence variant
rs587783295	G>A	Pathogenic	Stop gained, coding sequence variant
rs730882076	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs745997770	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs748529285	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749462358	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs750664956	CT>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs753406334	G>A,C,T	Pathogenic	Coding sequence variant, missense variant, stop gained, synonymous variant, intron variant
rs754909135	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs756879923	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs759632528	->T	Pathogenic	Frameshift variant, coding sequence variant
rs761447719	A>G	Likely-pathogenic	Initiator codon variant, missense variant
rs763800571	TTCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs763909256	G>A,T	Pathogenic	Stop gained, intron variant, coding sequence variant, missense variant
rs765275884	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs765530357	GATAT>-	Pathogenic	Stop gained, inframe indel, intron variant, coding sequence variant
rs769364943	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant, intron variant
rs769818500	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs770540184	TTTC>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs771583813	AACT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs772050241	G>A	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant, intron variant
rs774338373	G>A	Pathogenic	Coding sequence variant, stop gained
rs774814318	AAA>-,AA,AAAA	Pathogenic	Coding sequence variant, frameshift variant, inframe deletion, stop gained
rs776034810	G>A,T	Likely-pathogenic	Intron variant, stop gained, missense variant, coding sequence variant
rs786205609	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045311	->A	Pathogenic	Coding sequence variant, frameshift variant
rs797045313	TTAC>-	Pathogenic	Splice donor variant, intron variant
rs797045314	A>C,G	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, synonymous variant
rs797045315	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs797045316	TTTT>-,TTTTT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876660959	T>-,TT	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876660960	->T	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs876660961	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661036	A>C	Pathogenic	Coding sequence variant, intron variant, stop gained
rs876661154	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041282	AATCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs886041709	C>G	Pathogenic, likely-pathogenic	Splice donor variant
rs886041720	A>T	Pathogenic	Coding sequence variant, stop gained
rs886041721	->A	Pathogenic	Frameshift variant, coding sequence variant
rs886043249	C>T	Pathogenic	Coding sequence variant, stop gained
rs933106143	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1057518268	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518269	C>T	Pathogenic	Stop gained, coding sequence variant
rs1057520873	C>A,G	Pathogenic	Stop gained, missense variant, intron variant, coding sequence variant
rs1060499757	CT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1060499758	C>T	Likely-pathogenic	Intron variant
rs1064793707	->C	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1064795945	AAGT>-	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1163303148	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1170413397	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1189399471	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1226333994	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, intron variant
rs1291666293	TTTAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1321892596	C>A,G	Pathogenic	Splice acceptor variant
rs1334301723	CTTT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1334947797	C>A,G	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs1404276011	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1482100822	G>A	Pathogenic	Coding sequence variant, stop gained
rs1553223323	->T	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553223496	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1553225179	->T	Pathogenic	Coding sequence variant, stop gained
rs1553227015	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553227021	C>T	Pathogenic	Coding sequence variant, stop gained
rs1553227645	TTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553227742	G>C	Pathogenic	Coding sequence variant, stop gained
rs1553228009	->CA	Pathogenic	Frameshift variant, coding sequence variant
rs1553228275	C>G	Pathogenic	Splice donor variant
rs1553325275	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553326645	C>G	Likely-pathogenic	Splice acceptor variant
rs1553326840	C>T	Pathogenic	Splice donor variant
rs1557966012	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1558328287	TT>-,T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1571596976	AA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571599902	AGTA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571600045	->T	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571600860	->G	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571601267	AG>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571602991	AT>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1571616951	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1571630284	TAG>AA	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016478	hsa-miR-193b-3p	Microarray	20304954
MIRT024686	hsa-miR-215-5p	Microarray	19074876
MIRT026460	hsa-miR-192-5p	Microarray	19074876
MIRT029549	hsa-miR-26b-5p	Microarray	19088304
MIRT052495	hsa-let-7a-5p	CLASH	23622248
MIRT441168	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441168	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT803183	hsa-miR-1284	CLIP-seq
MIRT803184	hsa-miR-3119	CLIP-seq
MIRT803185	hsa-miR-34b	CLIP-seq
MIRT803186	hsa-miR-3647-3p	CLIP-seq
MIRT803187	hsa-miR-433	CLIP-seq
MIRT803188	hsa-miR-4704-5p	CLIP-seq
MIRT803189	hsa-miR-4724-5p	CLIP-seq
MIRT803190	hsa-miR-509-3p	CLIP-seq
MIRT803191	hsa-miR-548c-3p	CLIP-seq
MIRT803192	hsa-miR-548p	CLIP-seq
MIRT803193	hsa-miR-889	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Activation	16123590
FOXJ1	Unknown	16809635

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005516	Function	Calmodulin binding	IEA
GO:0005634	Component	Nucleus	IDA	21044324
GO:0005737	Component	Cytoplasm	IEA
GO:0007051	Process	Spindle organization	IMP	21044324
GO:0036449	Component	Microtubule minus-end	IDA	21044324
GO:0051301	Process	Cell division	IEA
GO:0051653	Process	Spindle localization	IMP	21044324
GO:0097431	Component	Mitotic spindle pole	IDA	15972725, 21044324

Other IDs

• MIM: 605481
• HGNC: 19048
• e!Ensembl: ENSG00000066279

Protein

• UniProt ID: Q8IZT6
• Protein name: Abnormal spindle-like microcephaly-associated protein (Abnormal spindle protein homolog) (Asp homolog)
• Protein function: Involved in mitotic spindle regulation and coordination of mitotic processes. The function in regulating microtubule dynamics at spindle poles including spindle orientation, astral microtubule density and poleward microtubule flux seems to depen
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15780	ASH	37 → 134		Domain
  PF00307	CH	1110 → 1261	Calponin homology (CH) domain	Domain
  PF00612	IQ	1316 → 1336	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1348 → 1368	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1394 → 1414	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1465 → 1485	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1488 → 1508	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1560 → 1580	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1583 → 1603	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1633 → 1652	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1656 → 1676	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1729 → 1749	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1752 → 1772	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1802 → 1822	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1826 → 1845	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1848 → 1865	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1875 → 1895	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1898 → 1918	IQ calmodulin-binding motif	Motif
  PF00612	IQ	1971 → 1991	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2021 → 2041	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2044 → 2064	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2094 → 2114	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2190 → 2210	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2240 → 2260	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2312 → 2332	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2335 → 2355	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2385 → 2405	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2408 → 2428	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2458 → 2478	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2481 → 2500	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2532 → 2551	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2625 → 2645	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2666 → 2686	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2689 → 2709	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2739 → 2759	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2860 → 2880	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2933 → 2953	IQ calmodulin-binding motif	Motif
  PF00612	IQ	2955 → 2975	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3030 → 3050	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3080 → 3100	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3182 → 3202	IQ calmodulin-binding motif	Motif
  PF00612	IQ	3205 → 3223	IQ calmodulin-binding motif	Motif

• Sequence:

  MANRRVGRGCWEVSPTERRPPAGLRGPAAEEEASSPPVLSLSHFCRSPFLCFGDVLLGAS
  RTLSLALDNPNEEVAEVKISHFPAADLGFSVSQRCFVLQPKEKIVISVNWTPLKEGRVRE
  IMTFLVNDVLKHQAILLGNAEEQKKKKRSLWDTIKKKKISASTSHNRRVSNIQNVNKTFS
  VSQKVDRVRSPLQACENLAMNEGGPPTENNSLILEENKIPISPISPAFNECHGATCLPLS
  VRRSTTYSSLHASENRELLNVHSANVSKVSFNEKAVTETSFNSVNVNGQRGENSKLSLTP
  NCSSTLNITQSQIHFLSPDSFVNNSHGANNELELVTCLSSDMFMKDNSQPVHLESTIAHE
  IYQKILSPDSFIKDNYGLNQDLESESVNPILSPNQFLKDNMAYMCTSQQTCKVPLSNENS
  QVPQSPEDWRKSEVSPRIPECQGSKSPKAIFEELVEMKSNYYSFIKQNNPKFSAVQDISS
  HSHNKQPKRRPILSATVTKRKATCTRENQTEINKPKAKRCLNSAVGEHEKVINNQKEKED
  FHSYLPIIDPILSKSKSYKNEVTPSSTTASVARKRKSDGSMEDANVRVAITEHTEVREIK
  RIHFSPSEPKTSAVKKTKNVTTPISKRISNREKLNLKKKTDLSIFRTPISKTNKRTKPII
  AVAQSSLTFIKPLKTDIPRHPMPFAAKNMFYDERWKEKQEQGFTWWLNFILTPDDFTVKT
  NISEVNAATLLLGIENQHKISVPRAPTKEEMSLRAYTARCRLNRLRRAACRLFTSEKMVK
  AIKKLEIEIEARRLIVRKDRHLWKDVGERQKVLNWLLSYNPLWLRIGLETTYGELISLED
  NSDVTGLAMFILNRLLWNPDIAAEYRHPTVPHLYRDGHEEALSKFTLKKLLLLVCFLDYA
  KISRLIDHDPCLFCKDAEFKASKEILLAFSRDFLSGEGDLSRHLGLLGLPVNHVQTPFDE
  FDFAVTNLAVDLQCGVRLVRTMELLTQNWDLSKKLRIPAISRLQKMHNVDIVLQVLKSRG
  IELSDEHGNTILSKDIVDRHREKTLRLLWKIAFAFQVDISLNLDQLKEEIAFLKHTKSIK
  KTISLLSCHSDDLINKKKGKRDSGSFEQYSENIKLLMDWVNAVCAFYNKKVENFTVSFSD
  GRVLCYLIHHYHPCYVPFDAICQRTTQTVECTQTGSVVLNSSSESDDSSLDMSLKAFDHE
  NTSELYKELLENEKKNFHLVRSAVRDLGGIPAMINHSDMSNTIPDEKVVITYLSFLCARL
  LDLRKEIRAARLIQTTWRKYKLKTDLKRHQEREKAARIIQLAVINFLAKQRLRKRVNAAL
  VIQKYWRRVLAQRKLLMLKKEKLEKVQNKAASLIQGYWRRYSTRQRFLKLKYYSIILQSR
  IRMIIAVTSYKRYLWATVTIQRHWRAYLRRKQDQQRYEMLKSSTLIIQSMFRKWKQRKMQ
  SQVKATVILQRAFREWHLRKQAKEENSAIIIQSWYRMHKELRKYIYIRSCVVIIQKRFRC
  FQAQKLYKRRKESILTIQKYYKAYLKGKIERTNYLQKRAAAIQLQAAFRRLKAHNLCRQI
  RAACVIQSYWRMRQDRVRFLNLKKTIIKFQAHVRKHQQRQKYKKMKKAAVIIQTHFRAYI
  FAMKVLASYQKTRSAVIVLQSAYRGMQARKMYIHILTSVIKIQSYYRAYVSKKEFLSLKN
  ATIKLQSTVKMKQTRKQYLHLRAAALFIQQCYRSKKIAAQKREEYMQMRESCIKLQAFVR
  GYLVRKQMRLQRKAVISLQSYFRMRKARQYYLKMYKAIIVIQNYYHAYKAQVNQRKNFLQ
  VKKAATCLQAAYRGYKVRQLIKQQSIAALKIQSAFRGYNKRVKYQSVLQSIIKIQRWYRA
  YKTLHDTRTHFLKTKAAVISLQSAYRGWKVRKQIRREHQAALKIQSAFRMAKAQKQFRLF
  KTAALVIQQNFRAWTAGRKQCMEYIELRHAVLVLQSMWKGKTLRRQLQRQHKCAIIIQSY
  YRMHVQQKKWKIMKKAALLIQKYYRAYSIGREQNHLYLKTKAAVVTLQSAYRGMKVRKRI
  KDCNKAAVTIQSKYRAYKTKKKYATYRASAIIIQRWYRGIKITNHQHKEYLNLKKTAIKI
  QSVYRGIRVRRHIQHMHRAATFIKAMFKMHQSRISYHTMRKAAIVIQVRCRAYYQGKMQR
  EKYLTILKAVKVLQASFRGVRVRRTLRKMQTAATLIQSNYRRYRQQTYFNKLKKITKTVQ
  QRYWAMKERNIQFQRYNKLRHSVIYIQAIFRGKKARRHLKMMHIAATLIQRRFRTLMMRR
  RFLSLKKTAILIQRKYRAHLCTKHHLQFLQVQNAVIKIQSSYRRWMIRKRMREMHRAATF
  IQSTFRMHRLHMRYQALKQASVVIQQQYQANRAAKLQRQHYLRQRHSAVILQAAFRGMKT
  RRHLKSMHSSATLIQSRFRSLLVRRRFISLKKATIFVQRKYRATICAKHKLYQFLHLRKA
  AITIQSSYRRLMVKKKLQEMQRAAVLIQATFRMYRTYITFQTWKHASILIQQHYRTYRAA
  KLQRENYIRQWHSAVVIQAAYKGMKARQLLREKHKASIVIQSTYRMYRQYCFYQKLQWAT
  KIIQEKYRANKKKQKVFQHNELKKETCVQAGFQDMNIKKQIQEQHQAAIIIQKHCKAFKI
  RKHYLHLRATVVSIQRRYRKLTAVRTQAVICIQSYYRGFKVRKDIQNMHRAATLIQSFYR
  MHRAKVDYETKKTAIVVIQNYYRLYVRVKTERKNFLAVQKSVRTIQAAFRGMKVRQKLKN
  VSEEKMAAIVNQSALCCYRSKTQYEAVQSEGVMIQEWYKASGLACSQEAEYHSQSRAAVT
  IQKAFCRMVTRKLETQKCAALRIQFFLQMAVYRRRFVQQKRAAITLQHYFRTWQTRKQFL
  LYRKAAVVLQNHYRAFLSAKHQRQVYLQIRSSVIIIQARSKGFIQKRKFQEIKNSTIKIQ
  AMWRRYRAKKYLCKVKAACKIQAWYRCWRAHKEYLAILKAVKIIQGCFYTKLERTRFLNV
  RASAIIIQRKWRAILPAKIAHEHFLMIKRHRAACLIQAHYRGYKGRQVFLRQKSAALIIQ
  KYIRAREAGKHERIKYIEFKKSTVILQALVRGWLVRKRFLEQRAKIRLLHFTAAAYYHLN
  AVRIQRAYKLYLAVKNANKQVNSVICIQRWFRARLQEKRFIQKYHSIKKIEHEGQECLSQ
  RNRAASVIQKAVRHFLLRKKQEKFTSGIIKIQALWRGYSWRKKNDCTKIKAIRLSLQVVN
  REIREENKLYKRTALALHYLLTYKHLSAILEALKHLEVVTRLSPLCCENMAQSGAISKIF
  VLIRSCNRSIPCMEVIRYAVQVLLNVSKYEKTTSAVYDVENCIDILLELLQIYREKPGNK
  VADKGGSIFTKTCCLLAILLKTTNRASDVRSRSKVVDRIYSLYKLTAHKHKMNTERILYK
  QKKNSSISIPFIPETPVRTRIVSRLKPDWVLRRDNMEEITNPLQAIQMVMDTLGIPY

• Sequence length: 3477

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenoid Cystic Carcinoma	rs121913530, rs886039394, rs121913474	16762588
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
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	31680123
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
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
Mental retardation	Severe intellectual disability, 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
Microcephaly	Microcephaly, Microcephaly, Primary Autosomal Recessive, 5, MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1, Autosomal Recessive Primary Microcephaly, Primary microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357	12355089, 29706646, 19770472
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	15806441, 19770472, 18452193, 19028728, 22775483, 27250695, 19332161, 12355089, 20978018, 16141009
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital microcephaly	Congenital microcephaly
Dwarfism	Dwarfism
Dysmorphic features	Dysmorphic features		12355089, 19770472, 19332161, 20978018, 15806441, 16141009, 22775483, 27250695, 19028728, 18452193
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Liver carcinoma	Liver carcinoma		28284560
Malformation of cortical development	Malformations of Cortical Development, Group II		29706646
Motor delay	Clumsiness - motor delay
Neuronal heterotopia	Neuronal heterotopia
Sclerocystic ovaries	Sclerocystic Ovaries		21411543
Pachygyria	Pachygyria
Polycystic ovary syndrome	Polycystic Ovary Syndrome		21411543
Proptosis	Exophthalmos
Renal aplasia	Unilateral agenesis of kidney
Salivary gland neoplasm	Salivary Gland Neoplasms		16762588
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland		16762588