Have questions? Visit https://www.reddit.com/r/SNPedia

rs28928892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28928892(C;G)
Make rs28928892(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position176094645
GeneHOXD13
is asnp
is mentioned by
dbSNPrs28928892
ebirs28928892
HLIrs28928892
Exacrs28928892
Varsomers28928892
Maprs28928892
PheGenIrs28928892
hapmaprs28928892
1000 genomesrs28928892
hgdprs28928892
ensemblrs28928892
gopubmedrs28928892
geneviewrs28928892
scholarrs28928892
googlers28928892
pharmgkbrs28928892
gwascentralrs28928892
openSNPrs28928892
23andMers28928892
23andMe allrs28928892
SNP Nexus

SNPshotrs28928892
SNPdbers28928892
MSV3drs28928892
GWAS Ctlgrs28928892
Max Magnitude0
OMIM142989
DescBRACHYDACTYLY, TYPE E
Variant0005
Relatedalso
Neighborrs28933082
Distance31
Neighborrs28928891
Distance17


ClinVar
Risk rs28928892(A,G;A,G)
Alt rs28928892(A,G;A,G)
Reference rs28928892(C;C)
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.176959373C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015997.25, RCV000015998.26,