rs121908648

Orientation

plus

Stabilized

plus

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

Make rs121908648(A;C)

Make rs121908648(C;C)

Reference

GRCh38 38.1/141

Chromosome

9

Position

130489422

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs121908648
dbSNP (classic)	rs121908648
ClinGen	rs121908648
ebi	rs121908648
HLI	rs121908648
Exac	rs121908648
Gnomad	rs121908648
Varsome	rs121908648
LitVar	rs121908648
Map	rs121908648
PheGenI	rs121908648
Biobank	rs121908648
1000 genomes	rs121908648
hgdp	rs121908648
ensembl	rs121908648
geneview	rs121908648
scholar	rs121908648
google	rs121908648
pharmgkb	rs121908648
gwascentral	rs121908648
openSNP	rs121908648
23andMe	rs121908648
SNPshot	rs121908648
SNPdbe	rs121908648
MSV3d	rs121908648
GWAS Ctlg	rs121908648

Max Magnitude

0

OMIM	603470
Desc
Variant	0019
Related	also

ClinVar
Risk	rs121908648(C;C)
Alt	rs121908648(C;C)
Reference	Rs121908648(A;A)
Significance	Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133364809A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006711.4,