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rs118203930

From SNPedia

Merged intors72555393
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203930(C;T)
Make rs118203930(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position33072544
GeneGLB1
is asnp
is mentioned by
dbSNPrs118203930
ebirs118203930
HLIrs118203930
Exacrs118203930
Varsomers118203930
Maprs118203930
PheGenIrs118203930
hapmaprs118203930
1000 genomesrs118203930
hgdprs118203930
ensemblrs118203930
gopubmedrs118203930
geneviewrs118203930
scholarrs118203930
googlers118203930
pharmgkbrs118203930
gwascentralrs118203930
openSNPrs118203930
23andMers118203930
23andMe allrs118203930
SNP Nexus

SNPshotrs118203930
SNPdbers118203930
MSV3drs118203930
GWAS Ctlgrs118203930
StatusMerged into rs72555393
Max Magnitude0
OMIM611458
Desc
Variant0013
Relatedalso
ClinVar
Risk rs118203930(T;T)
Alt rs118203930(T;T)
Reference rs118203930(C;C)
Significance Pathogenic
Disease Gangliosidosis GM1 type 3
Variation info
Gene GLB1
CLNDBN Gangliosidosis GM1 type 3
Reversed 1
HGVS NC_000003.11:g.33114036G>A
CLNSRC OMIM Allelic Variant
CLNACC SCV000021134.1, SCV000021134.1,