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rs28928891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs28928891(A;C)
Make rs28928891(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position176094662
GeneHOXD13
is asnp
is mentioned by
dbSNPrs28928891
ebirs28928891
HLIrs28928891
Exacrs28928891
Varsomers28928891
Maprs28928891
PheGenIrs28928891
hapmaprs28928891
1000 genomesrs28928891
hgdprs28928891
ensemblrs28928891
gopubmedrs28928891
geneviewrs28928891
scholarrs28928891
googlers28928891
pharmgkbrs28928891
gwascentralrs28928891
openSNPrs28928891
23andMers28928891
23andMe allrs28928891
SNP Nexus

SNPshotrs28928891
SNPdbers28928891
MSV3drs28928891
GWAS Ctlgrs28928891
Max Magnitude0
OMIM142989
DescBRACHYDACTYLY, TYPE E
Variant0004
Relatedalso
Neighborrs28928892
Distance17


ClinVar
Risk rs28928891(C,G;C,G)
Alt rs28928891(C,G;C,G)
Reference rs28928891(A;A)
Significance Pathogenic
Disease Brachydactyly type E1 Brachydactyly type D
Variation info
Gene HOXD13
CLNDBN Brachydactyly type E1 Brachydactyly type D
Reversed 0
HGVS NC_000002.11:g.176959390A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015995.26, RCV000015996.27,