Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434481(C;C)
Make rs121434481(C;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position174493236
GeneHPGD
is asnp
is mentioned by
dbSNPrs121434481
ebirs121434481
HLIrs121434481
Exacrs121434481
Varsomers121434481
Maprs121434481
PheGenIrs121434481
hapmaprs121434481
1000 genomesrs121434481
hgdprs121434481
ensemblrs121434481
gopubmedrs121434481
geneviewrs121434481
scholarrs121434481
googlers121434481
pharmgkbrs121434481
gwascentralrs121434481
openSNPrs121434481
23andMers121434481
23andMe allrs121434481
SNP Nexus

SNPshotrs121434481
SNPdbers121434481
MSV3drs121434481
GWAS Ctlgrs121434481
Max Magnitude0
OMIM601688
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434481(C;C)
Alt rs121434481(C;C)
Reference rs121434481(T;T)
Significance Pathogenic
Disease Digital clubbing
Variation info
Gene HPGD
CLNDBN Digital clubbing, isolated congenital
Reversed 1
HGVS NC_000004.11:g.175414387A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008382.2,