rs148918985

Orientation

plus

Stabilized

plus

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

Make rs148918985(C;T)

Make rs148918985(T;T)

Reference

GRCh38 38.1/142

Chromosome

9

Position

130480404

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs148918985
dbSNP (classic)	rs148918985
ClinGen	rs148918985
ebi	rs148918985
HLI	rs148918985
Exac	rs148918985
Gnomad	rs148918985
Varsome	rs148918985
LitVar	rs148918985
Map	rs148918985
PheGenI	rs148918985
Biobank	rs148918985
1000 genomes	rs148918985
hgdp	rs148918985
ensembl	rs148918985
geneview	rs148918985
scholar	rs148918985
google	rs148918985
pharmgkb	rs148918985
gwascentral	rs148918985
openSNP	rs148918985
23andMe	rs148918985
SNPshot	rs148918985
SNPdbe	rs148918985
MSV3d	rs148918985
GWAS Ctlg	rs148918985

Max Magnitude

0

ClinVar
Risk	rs148918985(T;T)
Alt	rs148918985(T;T)
Reference	Rs148918985(C;C)
Significance	Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133355791C>T
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078025.4,