rs762387914

Orientation

plus

Stabilized

plus

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

Make rs762387914(C;T)

Make rs762387914(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

130480425

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs762387914
dbSNP (classic)	rs762387914
ClinGen	rs762387914
ebi	rs762387914
HLI	rs762387914
Exac	rs762387914
Gnomad	rs762387914
Varsome	rs762387914
LitVar	rs762387914
Map	rs762387914
PheGenI	rs762387914
Biobank	rs762387914
1000 genomes	rs762387914
hgdp	rs762387914
ensembl	rs762387914
geneview	rs762387914
scholar	rs762387914
google	rs762387914
pharmgkb	rs762387914
gwascentral	rs762387914
openSNP	rs762387914
23andMe	rs762387914
SNPshot	rs762387914
SNPdbe	rs762387914
MSV3d	rs762387914
GWAS Ctlg	rs762387914

Max Magnitude

0

ClinVar
Risk	rs762387914(T;T)
Alt	rs762387914(T;T)
Reference	Rs762387914(C;C)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133355812C>T
CLNSRC
CLNACC	RCV000409266.1,