rs1060501349

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs1060501349(-;-)

Make rs1060501349(-;A)

Reference

GRCh38.p7 38.3/150

Chromosome

20

Position

10641536

Gene

JAG1

is a	snp
is	mentioned by
dbSNP	rs1060501349
dbSNP (classic)	rs1060501349
ClinGen	rs1060501349
ebi	rs1060501349
HLI	rs1060501349
Exac	rs1060501349
Gnomad	rs1060501349
Varsome	rs1060501349
LitVar	rs1060501349
Map	rs1060501349
PheGenI	rs1060501349
Biobank	rs1060501349
1000 genomes	rs1060501349
hgdp	rs1060501349
ensembl	rs1060501349
geneview	rs1060501349
scholar	rs1060501349
google	rs1060501349
pharmgkb	rs1060501349
gwascentral	rs1060501349
openSNP	rs1060501349
23andMe	rs1060501349
SNPshot	rs1060501349
SNPdbe	rs1060501349
MSV3d	rs1060501349
GWAS Ctlg	rs1060501349

Max Magnitude

0

ClinVar
Risk	rs1060501349(-;-)
Alt	rs1060501349(-;-)
Reference	Rs1060501349(A;A)
Significance	Pathogenic
Disease	Alagille syndrome 1
Variation	info
Gene	JAG1
CLNDBN	Alagille syndrome 1
Reversed	1
HGVS	NC_000020.10:g.10622184delT
CLNSRC
CLNACC	RCV000461222.1,