rs1057517127

Orientation

plus

Stabilized

plus

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

Make rs1057517127(A;A)

Make rs1057517127(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

130479801

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs1057517127
dbSNP (classic)	rs1057517127
ClinGen	rs1057517127
ebi	rs1057517127
HLI	rs1057517127
Exac	rs1057517127
Gnomad	rs1057517127
Varsome	rs1057517127
LitVar	rs1057517127
Map	rs1057517127
PheGenI	rs1057517127
Biobank	rs1057517127
1000 genomes	rs1057517127
hgdp	rs1057517127
ensembl	rs1057517127
geneview	rs1057517127
scholar	rs1057517127
google	rs1057517127
pharmgkb	rs1057517127
gwascentral	rs1057517127
openSNP	rs1057517127
23andMe	rs1057517127
SNPshot	rs1057517127
SNPdbe	rs1057517127
MSV3d	rs1057517127
GWAS Ctlg	rs1057517127

Max Magnitude

0

ClinVar
Risk	rs1057517127(A;A)
Alt	rs1057517127(A;A)
Reference	Rs1057517127(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133355188G>A
CLNSRC
CLNACC	RCV000410118.1,