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rs104895301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104895301(A;A)
Make rs104895301(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position109586098
GeneMVK
is asnp
is mentioned by
dbSNPrs104895301
ebirs104895301
HLIrs104895301
Exacrs104895301
Varsomers104895301
Maprs104895301
PheGenIrs104895301
hapmaprs104895301
1000 genomesrs104895301
hgdprs104895301
ensemblrs104895301
gopubmedrs104895301
geneviewrs104895301
scholarrs104895301
googlers104895301
pharmgkbrs104895301
gwascentralrs104895301
openSNPrs104895301
23andMers104895301
23andMe allrs104895301
SNP Nexus

SNPshotrs104895301
SNPdbers104895301
MSV3drs104895301
GWAS Ctlgrs104895301
Max Magnitude0
ClinVar
Risk rs104895301(A;A)
Alt rs104895301(A;A)
Reference rs104895301(G;G)
Significance Pathogenic
Disease Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis
Variation info
Gene MVK
CLNDBN Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis, disseminated superficial actinic 1
Reversed 0
HGVS NC_000012.11:g.110023903G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032938.25, RCV000032939.24, RCV000032940.17,