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rs28936681

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28936681(C;C)
Make rs28936681(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154584993
GeneADAR
is asnp
is mentioned by
dbSNPrs28936681
ebirs28936681
HLIrs28936681
Exacrs28936681
Varsomers28936681
Maprs28936681
PheGenIrs28936681
hapmaprs28936681
1000 genomesrs28936681
hgdprs28936681
ensemblrs28936681
gopubmedrs28936681
geneviewrs28936681
scholarrs28936681
googlers28936681
pharmgkbrs28936681
gwascentralrs28936681
openSNPrs28936681
23andMers28936681
23andMe allrs28936681
SNP Nexus

SNPshotrs28936681
SNPdbers28936681
MSV3drs28936681
GWAS Ctlgrs28936681
Max Magnitude0
OMIM601059
DescDYSCHROMATOSIS SYMMETRICA HEREDITARIA
Variant0004
Relatedalso
OMIM146920
Desc
Variant0004
Relatedalso


ClinVar
Risk rs28936681(C;C)
Alt rs28936681(C;C)
Reference rs28936681(T;T)
Significance Pathogenic
Disease Symmetrical dyschromatosis of extremities
Variation info
Gene ADAR
CLNDBN Symmetrical dyschromatosis of extremities
Reversed 1
HGVS NC_000001.10:g.154557469A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015943.25,