rs1057517402

Orientation

plus

Stabilized

plus

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

Make rs1057517402(A;A)

Make rs1057517402(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

130495024

Gene	ASS1, LOC105376294

is a	snp
is	mentioned by
dbSNP	rs1057517402
dbSNP (classic)	rs1057517402
ClinGen	rs1057517402
ebi	rs1057517402
HLI	rs1057517402
Exac	rs1057517402
Gnomad	rs1057517402
Varsome	rs1057517402
LitVar	rs1057517402
Map	rs1057517402
PheGenI	rs1057517402
Biobank	rs1057517402
1000 genomes	rs1057517402
hgdp	rs1057517402
ensembl	rs1057517402
geneview	rs1057517402
scholar	rs1057517402
google	rs1057517402
pharmgkb	rs1057517402
gwascentral	rs1057517402
openSNP	rs1057517402
23andMe	rs1057517402
SNPshot	rs1057517402
SNPdbe	rs1057517402
MSV3d	rs1057517402
GWAS Ctlg	rs1057517402

Max Magnitude

0

ClinVar
Risk	rs1057517402(A;A)
Alt	rs1057517402(A;A)
Reference	Rs1057517402(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133370411G>A
CLNSRC
CLNACC	RCV000411642.1,