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rs28936680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28936680(C;C)
Make rs28936680(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154588668
GeneADAR
is asnp
is mentioned by
dbSNPrs28936680
ebirs28936680
HLIrs28936680
Exacrs28936680
Varsomers28936680
Maprs28936680
PheGenIrs28936680
hapmaprs28936680
1000 genomesrs28936680
hgdprs28936680
ensemblrs28936680
gopubmedrs28936680
geneviewrs28936680
scholarrs28936680
googlers28936680
pharmgkbrs28936680
gwascentralrs28936680
openSNPrs28936680
23andMers28936680
23andMe allrs28936680
SNP Nexus

SNPshotrs28936680
SNPdbers28936680
MSV3drs28936680
GWAS Ctlgrs28936680
Max Magnitude0
OMIM601059
DescDYSCHROMATOSIS SYMMETRICA HEREDITARIA
Variant0002
Relatedalso
OMIM146920
Desc
Variant0002
Relatedalso


ClinVar
Risk rs28936680(C;C)
Alt rs28936680(C;C)
Reference rs28936680(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.154561144A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015941.25,