rs1131695

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	1	Benign

Make rs1131695(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

10652589

Gene

JAG1

is a	snp
is	mentioned by
dbSNP	rs1131695
dbSNP (classic)	rs1131695
ClinGen	rs1131695
ebi	rs1131695
HLI	rs1131695
Exac	rs1131695
Gnomad	rs1131695
Varsome	rs1131695
LitVar	rs1131695
Map	rs1131695
PheGenI	rs1131695
Biobank	rs1131695
1000 genomes	rs1131695
hgdp	rs1131695
ensembl	rs1131695
geneview	rs1131695
scholar	rs1131695
google	rs1131695
pharmgkb	rs1131695
gwascentral	rs1131695
openSNP	rs1131695
23andMe	rs1131695
SNPshot	rs1131695
SNPdbe	rs1131695
MSV3d	rs1131695
GWAS Ctlg	rs1131695

Max Magnitude

1

aka c.765C>G (p.Tyr255Ter or Y255X), note also c.765C>A and c.765C>T; the first is considered pathogenic (for Alagille syndrome), the latter two, benign (in ClinVar)

ClinVar
Risk	rs1131695(A;A) rs1131695(G;G) rs1131695(T;T)
Alt	rs1131695(A;A) rs1131695(G;G) rs1131695(T;T)
Reference	Rs1131695(C;C)
Significance	Pathogenic
Disease	not specified not provided Cardiovascular phenotype Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia
Variation	info
Gene	JAG1
CLNDBN	not specified not provided Cardiovascular phenotype Isolated Nonsyndromic Congenital Heart Disease Arteriohepatic dysplasia
Reversed	1
HGVS	NC_000020.10:g.10633237G\x3d; NC_000020.10:g.10633237G>A; NC_000020.10:g.10633237G>C
CLNSRC
CLNACC	RCV000150845.2, RCV000132569.1, RCV000199026.3, RCV000254531.1, RCV000293317.1, RCV000398702.1, RCV000214085.1,