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rs763191789

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5.7 Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset
(A;G) 3 Carrier of a citrullinemia/citrin deficiency allele
(G;G) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position96184990
GeneSLC25A13
is asnp
is mentioned by
dbSNPrs763191789
dbSNP (classic)rs763191789
ClinGenrs763191789
ebirs763191789
HLIrs763191789
Exacrs763191789
Gnomadrs763191789
Varsomers763191789
LitVarrs763191789
Maprs763191789
PheGenIrs763191789
Biobankrs763191789
1000 genomesrs763191789
hgdprs763191789
ensemblrs763191789
geneviewrs763191789
scholarrs763191789
googlers763191789
pharmgkbrs763191789
gwascentralrs763191789
openSNPrs763191789
23andMers763191789
23andMe allrs763191789
SNPshotrs763191789
SNPdbers763191789
MSV3drs763191789
GWAS Ctlgrs763191789
Max Magnitude5.7
ClinVar
Risk Rs763191789(A;A) rs763191789(C;C)
Alt Rs763191789(A;A) rs763191789(C;C)
Reference Rs763191789(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene SLC25A13
CLNDBN not provided
Reversed 0
HGVS NC_000007.13:g.95814302G>A
CLNSRC
CLNACC RCV000412829.1,