rs121908641

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a citrullinemia type I mutation
(G;G)	0	common in clinvar

Make rs121908641(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130499545

Gene	ASS1, LOC105376294

is a	snp
is	mentioned by
dbSNP	rs121908641
dbSNP (classic)	rs121908641
ClinGen	rs121908641
ebi	rs121908641
HLI	rs121908641
Exac	rs121908641
Gnomad	rs121908641
Varsome	rs121908641
LitVar	rs121908641
Map	rs121908641
PheGenI	rs121908641
Biobank	rs121908641
1000 genomes	rs121908641
hgdp	rs121908641
ensembl	rs121908641
geneview	rs121908641
scholar	rs121908641
google	rs121908641
pharmgkb	rs121908641
gwascentral	rs121908641
openSNP	rs121908641
23andMe	rs121908641
SNPshot	rs121908641
SNPdbe	rs121908641
MSV3d	rs121908641
GWAS Ctlg	rs121908641

Max Magnitude

3

aka c.1168G>A (p.Gly390Arg Or G390R)

OMIM	603470
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908641(A;A) rs121908641(T;T)
Alt	rs121908641(A;A) rs121908641(T;T)
Reference	Rs121908641(G;G)
Significance	Pathogenic
Disease	Citrullinemia type I not provided
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I not provided
Reversed	0
HGVS	NC_000009.11:g.133374932G>A
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006701.5, RCV000185789.2,