rs121908643

Orientation

plus

Stabilized

plus

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

Make rs121908643(C;T)

Make rs121908643(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130452281

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs121908643
dbSNP (classic)	rs121908643
ClinGen	rs121908643
ebi	rs121908643
HLI	rs121908643
Exac	rs121908643
Gnomad	rs121908643
Varsome	rs121908643
LitVar	rs121908643
Map	rs121908643
PheGenI	rs121908643
Biobank	rs121908643
1000 genomes	rs121908643
hgdp	rs121908643
ensembl	rs121908643
geneview	rs121908643
scholar	rs121908643
google	rs121908643
pharmgkb	rs121908643
gwascentral	rs121908643
openSNP	rs121908643
23andMe	rs121908643
SNPshot	rs121908643
SNPdbe	rs121908643
MSV3d	rs121908643
GWAS Ctlg	rs121908643

Max Magnitude

0

OMIM	603470
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908643(T;T)
Alt	rs121908643(T;T)
Reference	Rs121908643(C;C)
Significance	Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133327668C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006703.3,