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rs267606985

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267606985(C;C)
Make rs267606985(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position27963693
GenePTHLH
is asnp
is mentioned by
dbSNPrs267606985
ebirs267606985
HLIrs267606985
Exacrs267606985
Varsomers267606985
Maprs267606985
PheGenIrs267606985
hapmaprs267606985
1000 genomesrs267606985
hgdprs267606985
ensemblrs267606985
gopubmedrs267606985
geneviewrs267606985
scholarrs267606985
googlers267606985
pharmgkbrs267606985
gwascentralrs267606985
openSNPrs267606985
23andMers267606985
23andMe allrs267606985
SNP Nexus

SNPshotrs267606985
SNPdbers267606985
MSV3drs267606985
GWAS Ctlgrs267606985
Max Magnitude0
ClinVar
Risk rs267606985(C;C)
Alt rs267606985(C;C)
Reference rs267606985(T;T)
Significance Pathogenic
Disease Brachydactyly type E2
Variation info
Gene PTHLH
CLNDBN Brachydactyly type E2
Reversed 1
HGVS NC_000012.11:g.28116626A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014745.19,