rs121908642

Orientation

plus

Stabilized

plus

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

Make rs121908642(C;T)

Make rs121908642(T;T)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130489404

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs121908642
dbSNP (classic)	rs121908642
ClinGen	rs121908642
ebi	rs121908642
HLI	rs121908642
Exac	rs121908642
Gnomad	rs121908642
Varsome	rs121908642
LitVar	rs121908642
Map	rs121908642
PheGenI	rs121908642
Biobank	rs121908642
1000 genomes	rs121908642
hgdp	rs121908642
ensembl	rs121908642
geneview	rs121908642
scholar	rs121908642
google	rs121908642
pharmgkb	rs121908642
gwascentral	rs121908642
openSNP	rs121908642
23andMe	rs121908642
SNPshot	rs121908642
SNPdbe	rs121908642
MSV3d	rs121908642
GWAS Ctlg	rs121908642

Max Magnitude

0

OMIM	603470
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121908642(T;T)
Alt	rs121908642(T;T)
Reference	Rs121908642(C;C)
Significance	Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133364791C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006702.3,