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rs397514570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514570(C;C)
Make rs397514570(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109590857
GeneMVK
is asnp
is mentioned by
dbSNPrs397514570
ebirs397514570
HLIrs397514570
Exacrs397514570
Varsomers397514570
Maprs397514570
PheGenIrs397514570
hapmaprs397514570
1000 genomesrs397514570
hgdprs397514570
ensemblrs397514570
gopubmedrs397514570
geneviewrs397514570
scholarrs397514570
googlers397514570
pharmgkbrs397514570
gwascentralrs397514570
openSNPrs397514570
23andMers397514570
23andMe allrs397514570
SNP Nexus

SNPshotrs397514570
SNPdbers397514570
MSV3drs397514570
GWAS Ctlgrs397514570
Max Magnitude0
ClinVar
Risk rs397514570(C;C)
Alt rs397514570(C;C)
Reference rs397514570(T;T)
Significance Pathogenic
Disease Porokeratosis
Variation info
Gene MVK
CLNDBN Porokeratosis, disseminated superficial actinic 1
Reversed 0
HGVS NC_000012.11:g.110028662T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032936.24,