rs1057516544

Orientation

plus

Stabilized

plus

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

Make rs1057516544(-;-)

Make rs1057516544(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

9

Position

130464113

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs1057516544
dbSNP (classic)	rs1057516544
ClinGen	rs1057516544
ebi	rs1057516544
HLI	rs1057516544
Exac	rs1057516544
Gnomad	rs1057516544
Varsome	rs1057516544
LitVar	rs1057516544
Map	rs1057516544
PheGenI	rs1057516544
Biobank	rs1057516544
1000 genomes	rs1057516544
hgdp	rs1057516544
ensembl	rs1057516544
geneview	rs1057516544
scholar	rs1057516544
google	rs1057516544
pharmgkb	rs1057516544
gwascentral	rs1057516544
openSNP	rs1057516544
23andMe	rs1057516544
SNPshot	rs1057516544
SNPdbe	rs1057516544
MSV3d	rs1057516544
GWAS Ctlg	rs1057516544

Max Magnitude

0

ClinVar
Risk	rs1057516544(-;-)
Alt	rs1057516544(-;-)
Reference	Rs1057516544(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133339500delG
CLNSRC
CLNACC	RCV000411991.1,