rs121908639

Orientation

plus

Stabilized

plus

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

Make rs121908639(A;A)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130489464

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs121908639
dbSNP (classic)	rs121908639
ClinGen	rs121908639
ebi	rs121908639
HLI	rs121908639
Exac	rs121908639
Gnomad	rs121908639
Varsome	rs121908639
LitVar	rs121908639
Map	rs121908639
PheGenI	rs121908639
Biobank	rs121908639
1000 genomes	rs121908639
hgdp	rs121908639
ensembl	rs121908639
geneview	rs121908639
scholar	rs121908639
google	rs121908639
pharmgkb	rs121908639
gwascentral	rs121908639
openSNP	rs121908639
23andMe	rs121908639
SNPshot	rs121908639
SNPdbe	rs121908639
MSV3d	rs121908639
GWAS Ctlg	rs121908639

Max Magnitude

3

aka c.970G>A (p.Gly324Ser or G324S)

OMIM	603470
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908639(A;A)
Alt	rs121908639(A;A)
Reference	Rs121908639(G;G)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133364851G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000006699.4,