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rs398122910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398122910(C;C)
Make rs398122910(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position109595183
GeneMVK
is asnp
is mentioned by
dbSNPrs398122910
dbSNP (classic)rs398122910
ClinGenrs398122910
ebirs398122910
HLIrs398122910
Exacrs398122910
Gnomadrs398122910
Varsomers398122910
LitVarrs398122910
Maprs398122910
PheGenIrs398122910
Biobankrs398122910
1000 genomesrs398122910
hgdprs398122910
ensemblrs398122910
geneviewrs398122910
scholarrs398122910
googlers398122910
pharmgkbrs398122910
gwascentralrs398122910
openSNPrs398122910
23andMers398122910
SNPshotrs398122910
SNPdbers398122910
MSV3drs398122910
GWAS Ctlgrs398122910
Max Magnitude0
ClinVar
Risk rs398122910(C;C)
Alt rs398122910(C;C)
Reference Rs398122910(T;T)
Significance Pathogenic
Disease Porokeratosis
Variation info
Gene MVK
CLNDBN Porokeratosis, disseminated superficial actinic 1
Reversed 0
HGVS NC_000012.11:g.110032988T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000032944.18,