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rs762387914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs762387914(C;T)
Make rs762387914(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome9
Position130480425
GeneASS1
is asnp
is mentioned by
dbSNPrs762387914
dbSNP (classic)rs762387914
ClinGenrs762387914
ebirs762387914
HLIrs762387914
Exacrs762387914
Gnomadrs762387914
Varsomers762387914
LitVarrs762387914
Maprs762387914
PheGenIrs762387914
Biobankrs762387914
1000 genomesrs762387914
hgdprs762387914
ensemblrs762387914
geneviewrs762387914
scholarrs762387914
googlers762387914
pharmgkbrs762387914
gwascentralrs762387914
openSNPrs762387914
23andMers762387914
23andMe allrs762387914
SNPshotrs762387914
SNPdbers762387914
MSV3drs762387914
GWAS Ctlgrs762387914
Max Magnitude0
ClinVar
Risk rs762387914(T;T)
Alt rs762387914(T;T)
Reference Rs762387914(C;C)
Significance Probable-Pathogenic
Disease Citrullinemia type I
Variation info
Gene ASS1
CLNDBN Citrullinemia type I
Reversed 0
HGVS NC_000009.11:g.133355812C>T
CLNSRC
CLNACC RCV000409266.1,