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rs104895362

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895362(G;T)
Make rs104895362(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position109595182
GeneMVK
is asnp
is mentioned by
dbSNPrs104895362
ebirs104895362
HLIrs104895362
Exacrs104895362
Varsomers104895362
Maprs104895362
PheGenIrs104895362
hapmaprs104895362
1000 genomesrs104895362
hgdprs104895362
ensemblrs104895362
gopubmedrs104895362
geneviewrs104895362
scholarrs104895362
googlers104895362
pharmgkbrs104895362
gwascentralrs104895362
openSNPrs104895362
23andMers104895362
23andMe allrs104895362
SNP Nexus

SNPshotrs104895362
SNPdbers104895362
MSV3drs104895362
GWAS Ctlgrs104895362
Max Magnitude0
ClinVar
Risk rs104895362(T;T)
Alt rs104895362(T;T)
Reference rs104895362(G;G)
Significance Pathogenic
Disease Porokeratosis Hyperimmunoglobulin D with periodic fever
Variation info
Gene MVK
CLNDBN Porokeratosis, disseminated superficial actinic 1 Hyperimmunoglobulin D with periodic fever
Reversed 0
HGVS NC_000012.11:g.110032987G>A; NC_000012.11:g.110032987G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000201792.1, RCV000083814.1,