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rs763389916

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs763389916(C;T)
Make rs763389916(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome9
Position130479849
GeneASS1
is asnp
is mentioned by
dbSNPrs763389916
dbSNP (classic)rs763389916
ClinGenrs763389916
ebirs763389916
HLIrs763389916
Exacrs763389916
Gnomadrs763389916
Varsomers763389916
LitVarrs763389916
Maprs763389916
PheGenIrs763389916
Biobankrs763389916
1000 genomesrs763389916
hgdprs763389916
ensemblrs763389916
geneviewrs763389916
scholarrs763389916
googlers763389916
pharmgkbrs763389916
gwascentralrs763389916
openSNPrs763389916
23andMers763389916
23andMe allrs763389916
SNPshotrs763389916
SNPdbers763389916
MSV3drs763389916
GWAS Ctlgrs763389916
Max Magnitude0
ClinVar
Risk rs763389916(T;T)
Alt rs763389916(T;T)
Reference Rs763389916(C;C)
Significance Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133355236C>T
CLNSRC
CLNACC RCV000256264.1,