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rs397514571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514571(C;C)
Make rs397514571(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109576041
GeneMVK
is asnp
is mentioned by
dbSNPrs397514571
ebirs397514571
HLIrs397514571
Exacrs397514571
Varsomers397514571
Maprs397514571
PheGenIrs397514571
hapmaprs397514571
1000 genomesrs397514571
hgdprs397514571
ensemblrs397514571
gopubmedrs397514571
geneviewrs397514571
scholarrs397514571
googlers397514571
pharmgkbrs397514571
gwascentralrs397514571
openSNPrs397514571
23andMers397514571
23andMe allrs397514571
SNP Nexus

SNPshotrs397514571
SNPdbers397514571
MSV3drs397514571
GWAS Ctlgrs397514571
Max Magnitude0
ClinVar
Risk rs397514571(C;C)
Alt rs397514571(C;C)
Reference rs397514571(T;T)
Significance Pathogenic
Disease Porokeratosis
Variation info
Gene MVK
CLNDBN Porokeratosis, disseminated superficial actinic 1
Reversed 0
HGVS NC_000012.11:g.110013846T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032943.22,