rs786204648

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CT;CT)	0	common in clinvar
(I;I)	0	common genotype
(TC;TC)	0	common in clinvar

Make rs786204648(-;-)

Make rs786204648(-;CT)

Reference

GRCh38.p2 38.2/146

Chromosome

9

Position

130466754

Gene

ASS1

is a	snp
is	mentioned by
dbSNP	rs786204648
dbSNP (classic)	rs786204648
ClinGen	rs786204648
ebi	rs786204648
HLI	rs786204648
Exac	rs786204648
Gnomad	rs786204648
Varsome	rs786204648
LitVar	rs786204648
Map	rs786204648
PheGenI	rs786204648
Biobank	rs786204648
1000 genomes	rs786204648
hgdp	rs786204648
ensembl	rs786204648
geneview	rs786204648
scholar	rs786204648
google	rs786204648
pharmgkb	rs786204648
gwascentral	rs786204648
openSNP	rs786204648
23andMe	rs786204648
SNPshot	rs786204648
SNPdbe	rs786204648
MSV3d	rs786204648
GWAS Ctlg	rs786204648

Max Magnitude

0

ClinVar
Risk	rs786204648(-;-) Rs786204648(TC;TC)
Alt	rs786204648(-;-) Rs786204648(TC;TC)
Reference	Rs786204648(CT;CT)
Significance	Probable-Pathogenic
Disease	Citrullinemia type I
Variation	info
Gene	ASS1
CLNDBN	Citrullinemia type I
Reversed	0
HGVS	NC_000009.11:g.133342141_133342142delCT
CLNSRC
CLNACC	RCV000169436.1,