rs1057516960

Orientation

plus

Stabilized

plus

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

Make rs1057516960(A;A)

Make rs1057516960(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

130452231

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs1057516960
dbSNP (classic)	rs1057516960
ClinGen	rs1057516960
ebi	rs1057516960
HLI	rs1057516960
Exac	rs1057516960
Gnomad	rs1057516960
Varsome	rs1057516960
LitVar	rs1057516960
Map	rs1057516960
PheGenI	rs1057516960
Biobank	rs1057516960
1000 genomes	rs1057516960
hgdp	rs1057516960
ensembl	rs1057516960
geneview	rs1057516960
scholar	rs1057516960
google	rs1057516960
pharmgkb	rs1057516960
gwascentral	rs1057516960
openSNP	rs1057516960
23andMe	rs1057516960
SNPshot	rs1057516960
SNPdbe	rs1057516960
MSV3d	rs1057516960
GWAS Ctlg	rs1057516960

Max Magnitude

0

ClinVar
Risk	rs1057516960(A;A)
Alt	rs1057516960(A;A)
Reference	Rs1057516960(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133327618G>A
CLNSRC
CLNACC	RCV000411464.1,