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rs121908949

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908949(C;G)
Make rs121908949(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594722
GeneNOG
is asnp
is mentioned by
dbSNPrs121908949
dbSNP (classic)rs121908949
ClinGenrs121908949
ebirs121908949
HLIrs121908949
Exacrs121908949
Gnomadrs121908949
Varsomers121908949
LitVarrs121908949
Maprs121908949
PheGenIrs121908949
Biobankrs121908949
1000 genomesrs121908949
hgdprs121908949
ensemblrs121908949
geneviewrs121908949
scholarrs121908949
googlers121908949
pharmgkbrs121908949
gwascentralrs121908949
openSNPrs121908949
23andMers121908949
SNPshotrs121908949
SNPdbers121908949
MSV3drs121908949
GWAS Ctlgrs121908949
Max Magnitude0
OMIM602991
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121908949(G;G)
Alt rs121908949(G;G)
Reference Rs121908949(C;C)
Significance Pathogenic
Disease Brachydactyly type B2
Variation info
Gene NOG
CLNDBN Brachydactyly type B2
Reversed 0
HGVS NC_000017.10:g.54672083C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007092.2,