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rs267606987

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606987(A;G)
Make rs267606987(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position27958559
GenePTHLH
is asnp
is mentioned by
dbSNPrs267606987
ebirs267606987
HLIrs267606987
Exacrs267606987
Varsomers267606987
Maprs267606987
PheGenIrs267606987
hapmaprs267606987
1000 genomesrs267606987
hgdprs267606987
ensemblrs267606987
gopubmedrs267606987
geneviewrs267606987
scholarrs267606987
googlers267606987
pharmgkbrs267606987
gwascentralrs267606987
openSNPrs267606987
23andMers267606987
23andMe allrs267606987
SNP Nexus

SNPshotrs267606987
SNPdbers267606987
MSV3drs267606987
GWAS Ctlgrs267606987
Max Magnitude0
ClinVar
Risk rs267606987(G;G)
Alt rs267606987(G;G)
Reference rs267606987(A;A)
Significance Pathogenic
Disease Brachydactyly type E2
Variation info
Gene PTHLH
CLNDBN Brachydactyly type E2
Reversed 1
HGVS NC_000012.11:g.28111492T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014747.25,