rs1057517259

Orientation

plus

Stabilized

plus

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

Make rs1057517259(G;T)

Make rs1057517259(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

130471484

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs1057517259
dbSNP (classic)	rs1057517259
ClinGen	rs1057517259
ebi	rs1057517259
HLI	rs1057517259
Exac	rs1057517259
Gnomad	rs1057517259
Varsome	rs1057517259
LitVar	rs1057517259
Map	rs1057517259
PheGenI	rs1057517259
Biobank	rs1057517259
1000 genomes	rs1057517259
hgdp	rs1057517259
ensembl	rs1057517259
geneview	rs1057517259
scholar	rs1057517259
google	rs1057517259
pharmgkb	rs1057517259
gwascentral	rs1057517259
openSNP	rs1057517259
23andMe	rs1057517259
SNPshot	rs1057517259
SNPdbe	rs1057517259
MSV3d	rs1057517259
GWAS Ctlg	rs1057517259

Max Magnitude

0

ClinVar
Risk	rs1057517259(T;T)
Alt	rs1057517259(T;T)
Reference	Rs1057517259(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133346871G>T
CLNSRC
CLNACC	RCV000410192.1,