rs192838388

Orientation

plus

Stabilized

plus

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

Make rs192838388(A;A)

Make rs192838388(A;G)

Reference

GRCh38 38.1/142

Chromosome

9

Position

130480398

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs192838388
dbSNP (classic)	rs192838388
ClinGen	rs192838388
ebi	rs192838388
HLI	rs192838388
Exac	rs192838388
Gnomad	rs192838388
Varsome	rs192838388
LitVar	rs192838388
Map	rs192838388
PheGenI	rs192838388
Biobank	rs192838388
1000 genomes	rs192838388
hgdp	rs192838388
ensembl	rs192838388
geneview	rs192838388
scholar	rs192838388
google	rs192838388
pharmgkb	rs192838388
gwascentral	rs192838388
openSNP	rs192838388
23andMe	rs192838388
SNPshot	rs192838388
SNPdbe	rs192838388
MSV3d	rs192838388
GWAS Ctlg	rs192838388

Max Magnitude

0

ClinVar
Risk	rs192838388(A;A)
Alt	rs192838388(A;A)
Reference	Rs192838388(G;G)
Significance	Pathogenic
Disease	Citrullinemia type I not provided
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I not provided
Reversed	0
HGVS	NC_000009.11:g.133355785G>A
CLNSRC	HGMD UniProtKB (protein)
CLNACC	RCV000078024.4, RCV000185783.3,