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rs121912991

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912991(C;T)
Make rs121912991(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position7566428
GeneDSP
is asnp
is mentioned by
dbSNPrs121912991
ebirs121912991
HLIrs121912991
Exacrs121912991
Varsomers121912991
Maprs121912991
PheGenIrs121912991
hapmaprs121912991
1000 genomesrs121912991
hgdprs121912991
ensemblrs121912991
gopubmedrs121912991
geneviewrs121912991
scholarrs121912991
googlers121912991
pharmgkbrs121912991
gwascentralrs121912991
openSNPrs121912991
23andMers121912991
23andMe allrs121912991
SNP Nexus

SNPshotrs121912991
SNPdbers121912991
MSV3drs121912991
GWAS Ctlgrs121912991
Max Magnitude0
OMIM125647
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912991(T;T)
Alt rs121912991(T;T)
Reference rs121912991(C;C)
Significance Pathogenic
Disease Keratosis palmoplantaris striata II
Variation info
Gene DSP
CLNDBN Keratosis palmoplantaris striata II
Reversed 0
HGVS NC_000006.11:g.7566661C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018330.28,