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rs267606986

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606986(C;C)
Make rs267606986(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position27963741
GenePTHLH
is asnp
is mentioned by
dbSNPrs267606986
ebirs267606986
HLIrs267606986
Exacrs267606986
Varsomers267606986
Maprs267606986
PheGenIrs267606986
hapmaprs267606986
1000 genomesrs267606986
hgdprs267606986
ensemblrs267606986
gopubmedrs267606986
geneviewrs267606986
scholarrs267606986
googlers267606986
pharmgkbrs267606986
gwascentralrs267606986
openSNPrs267606986
23andMers267606986
23andMe allrs267606986
SNP Nexus

SNPshotrs267606986
SNPdbers267606986
MSV3drs267606986
GWAS Ctlgrs267606986
Max Magnitude0
ClinVar
Risk rs267606986(C;C)
Alt rs267606986(C;C)
Reference rs267606986(T;T)
Significance Pathogenic
Disease Brachydactyly type E2
Variation info
Gene PTHLH
CLNDBN Brachydactyly type E2
Reversed 1
HGVS NC_000012.11:g.28116674A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014746.24,