rs121908647

Orientation

plus

Stabilized

plus

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

Make rs121908647(G;T)

Make rs121908647(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130494981

Gene	ASS1, LOC105376294

is a	snp
is	mentioned by
dbSNP	rs121908647
dbSNP (classic)	rs121908647
ClinGen	rs121908647
ebi	rs121908647
HLI	rs121908647
Exac	rs121908647
Gnomad	rs121908647
Varsome	rs121908647
LitVar	rs121908647
Map	rs121908647
PheGenI	rs121908647
Biobank	rs121908647
1000 genomes	rs121908647
hgdp	rs121908647
ensembl	rs121908647
geneview	rs121908647
scholar	rs121908647
google	rs121908647
pharmgkb	rs121908647
gwascentral	rs121908647
openSNP	rs121908647
23andMe	rs121908647
SNPshot	rs121908647
SNPdbe	rs121908647
MSV3d	rs121908647
GWAS Ctlg	rs121908647

Max Magnitude

0

OMIM	603470
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121908647(T;T)
Alt	rs121908647(T;T)
Reference	Rs121908647(G;G)
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.133370368G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006708.3, RCV000256322.1, RCV000418697.1,