rs121908646

Orientation

plus

Stabilized

plus

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

Make rs121908646(C;C)

Make rs121908646(C;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130470873

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs121908646
dbSNP (classic)	rs121908646
ClinGen	rs121908646
ebi	rs121908646
HLI	rs121908646
Exac	rs121908646
Gnomad	rs121908646
Varsome	rs121908646
LitVar	rs121908646
Map	rs121908646
PheGenI	rs121908646
Biobank	rs121908646
1000 genomes	rs121908646
hgdp	rs121908646
ensembl	rs121908646
geneview	rs121908646
scholar	rs121908646
google	rs121908646
pharmgkb	rs121908646
gwascentral	rs121908646
openSNP	rs121908646
23andMe	rs121908646
SNPshot	rs121908646
SNPdbe	rs121908646
MSV3d	rs121908646
GWAS Ctlg	rs121908646

GMAF

0.0004591

Max Magnitude

0

OMIM	603470
Desc
Variant	0015
Related	also

ClinVar
Risk	rs121908646(C;C)
Alt	rs121908646(C;C)
Reference	Rs121908646(T;T)
Significance	Pathogenic
Disease	Citrullinemia Citrullinemia type I not provided
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia, mild Citrullinemia type I not provided
Reversed	0
HGVS	NC_000009.11:g.133346260T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006707.4, RCV000256312.1, RCV000291508.1,