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rs104895373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104895373(-;-)
Make rs104895373(-;C)
Make rs104895373(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position109581440
GeneMVK
is asnp
is mentioned by
dbSNPrs104895373
ebirs104895373
HLIrs104895373
Exacrs104895373
Varsomers104895373
Maprs104895373
PheGenIrs104895373
hapmaprs104895373
1000 genomesrs104895373
hgdprs104895373
ensemblrs104895373
gopubmedrs104895373
geneviewrs104895373
scholarrs104895373
googlers104895373
pharmgkbrs104895373
gwascentralrs104895373
openSNPrs104895373
23andMers104895373
23andMe allrs104895373
SNP Nexus

SNPshotrs104895373
SNPdbers104895373
MSV3drs104895373
GWAS Ctlgrs104895373
Max Magnitude0
ClinVar
Risk rs104895373(C;C)
Alt rs104895373(C;C)
Reference rs104895373(;)
Significance Pathogenic
Disease Mevalonic aciduria Porokeratosis Hyperimmunoglobulin D with periodic fever
Variation info
Gene MVK
CLNDBN Mevalonic aciduria Porokeratosis, disseminated superficial actinic 1 Hyperimmunoglobulin D with periodic fever
Reversed 0
HGVS NC_000012.11:g.110019245dupC
CLNSRC OMIM Allelic Variant
CLNACC RCV000032941.25, RCV000074423.19, RCV000083840.1,