rs121908640

Orientation

plus

Stabilized

plus

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

Make rs121908640(C;T)

Make rs121908640(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130494983

Gene	ASS1, LOC105376294

is a	snp
is	mentioned by
dbSNP	rs121908640
dbSNP (classic)	rs121908640
ClinGen	rs121908640
ebi	rs121908640
HLI	rs121908640
Exac	rs121908640
Gnomad	rs121908640
Varsome	rs121908640
LitVar	rs121908640
Map	rs121908640
PheGenI	rs121908640
Biobank	rs121908640
1000 genomes	rs121908640
hgdp	rs121908640
ensembl	rs121908640
geneview	rs121908640
scholar	rs121908640
google	rs121908640
pharmgkb	rs121908640
gwascentral	rs121908640
openSNP	rs121908640
23andMe	rs121908640
SNPshot	rs121908640
SNPdbe	rs121908640
MSV3d	rs121908640
GWAS Ctlg	rs121908640

Max Magnitude

0

OMIM	603470
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121908640(T;T)
Alt	rs121908640(T;T)
Reference	Rs121908640(C;C)
Significance	Other
Disease	Citrullinemia type I not provided
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I not provided
Reversed	0
HGVS	NC_000009.11:g.133370370C>T
CLNSRC	HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006700.7, RCV000185787.3,