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rs121912541

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912541(G;T)
Make rs121912541(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position176093573
GeneHOXD13
is asnp
is mentioned by
dbSNPrs121912541
dbSNP (classic)rs121912541
ClinGenrs121912541
ebirs121912541
HLIrs121912541
Exacrs121912541
Gnomadrs121912541
Varsomers121912541
LitVarrs121912541
Maprs121912541
PheGenIrs121912541
Biobankrs121912541
1000 genomesrs121912541
hgdprs121912541
ensemblrs121912541
geneviewrs121912541
scholarrs121912541
googlers121912541
pharmgkbrs121912541
gwascentralrs121912541
openSNPrs121912541
23andMers121912541
SNPshotrs121912541
SNPdbers121912541
MSV3drs121912541
GWAS Ctlgrs121912541
Max Magnitude0
OMIM142989
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121912541(C;C) rs121912541(T;T)
Alt rs121912541(C;C) rs121912541(T;T)
Reference Rs121912541(G;G)
Significance Pathogenic
Disease Synpolydactyly 1
Variation info
Gene HOXD13
CLNDBN Synpolydactyly 1
Reversed 0
HGVS NC_000002.11:g.176958301G>C; NC_000002.11:g.176958301G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210946.2, RCV000016004.26,