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rs28937580

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs28937580(C;T)
Make rs28937580(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position56594326
GeneNOG
is asnp
is mentioned by
dbSNPrs28937580
ebirs28937580
HLIrs28937580
Exacrs28937580
Varsomers28937580
Maprs28937580
PheGenIrs28937580
hapmaprs28937580
1000 genomesrs28937580
hgdprs28937580
ensemblrs28937580
gopubmedrs28937580
geneviewrs28937580
scholarrs28937580
googlers28937580
pharmgkbrs28937580
gwascentralrs28937580
openSNPrs28937580
23andMers28937580
23andMe allrs28937580
SNP Nexus

SNPshotrs28937580
SNPdbers28937580
MSV3drs28937580
GWAS Ctlgrs28937580
Max Magnitude0
OMIM602991
DescSYMPHALANGISM, PROXIMAL
Variant0012
Relatedalso
OMIM602991
Desc
Variant0017
Relatedalso


ClinVar
Risk rs28937580(G,T;G,T)
Alt rs28937580(G,T;G,T)
Reference rs28937580(C;C)
Significance Pathogenic
Disease Brachydactyly type B2 Cushing's symphalangism Stapes ankylosis with broad thumb and toes
Variation info
Gene NOG
CLNDBN Brachydactyly type B2 Cushing's symphalangism Stapes ankylosis with broad thumb and toes
Reversed 0
HGVS NC_000017.10:g.54671687C>G; NC_000017.10:g.54671687C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000007100.2, RCV000007093.3, RCV000007094.3, RCV000007095.3,