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rs267606988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606988(A;T)
Make rs267606988(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position27963514
GenePTHLH
is asnp
is mentioned by
dbSNPrs267606988
ebirs267606988
HLIrs267606988
Exacrs267606988
Varsomers267606988
Maprs267606988
PheGenIrs267606988
hapmaprs267606988
1000 genomesrs267606988
hgdprs267606988
ensemblrs267606988
gopubmedrs267606988
geneviewrs267606988
scholarrs267606988
googlers267606988
pharmgkbrs267606988
gwascentralrs267606988
openSNPrs267606988
23andMers267606988
23andMe allrs267606988
SNP Nexus

SNPshotrs267606988
SNPdbers267606988
MSV3drs267606988
GWAS Ctlgrs267606988
Max Magnitude0
ClinVar
Risk rs267606988(T;T)
Alt rs267606988(T;T)
Reference rs267606988(A;A)
Significance Pathogenic
Disease Brachydactyly type E2
Variation info
Gene PTHLH
CLNDBN Brachydactyly type E2
Reversed 1
HGVS NC_000012.11:g.28116447T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014748.25,