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rs988395114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs988395114(A;A)
Make rs988395114(A;G)
Make rs988395114(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position54845787
GeneGCH1
is asnp
is mentioned by
dbSNPrs988395114
dbSNP (classic)rs988395114
ClinGenrs988395114
ebirs988395114
HLIrs988395114
Exacrs988395114
Gnomadrs988395114
Varsomers988395114
LitVarrs988395114
Maprs988395114
PheGenIrs988395114
Biobankrs988395114
1000 genomesrs988395114
hgdprs988395114
ensemblrs988395114
geneviewrs988395114
scholarrs988395114
googlers988395114
pharmgkbrs988395114
gwascentralrs988395114
openSNPrs988395114
23andMers988395114
23andMe allrs988395114
SNPshotrs988395114
SNPdbers988395114
MSV3drs988395114
GWAS Ctlgrs988395114
Max Magnitude0
ClinVar
Risk rs988395114(T;T)
Alt rs988395114(T;T)
Reference Rs988395114(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene GCH1
CLNDBN not provided
Reversed 0
HGVS NC_000014.8:g.55312505C>T
CLNSRC
CLNACC RCV000440945.1,