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rs104895322

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs104895322(-;-)
Make rs104895322(-;T)
Make rs104895322(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position109574894
GeneMMAB, MVK
is asnp
is mentioned by
dbSNPrs104895322
ebirs104895322
HLIrs104895322
Exacrs104895322
Varsomers104895322
Maprs104895322
PheGenIrs104895322
hapmaprs104895322
1000 genomesrs104895322
hgdprs104895322
ensemblrs104895322
gopubmedrs104895322
geneviewrs104895322
scholarrs104895322
googlers104895322
pharmgkbrs104895322
gwascentralrs104895322
openSNPrs104895322
23andMers104895322
23andMe allrs104895322
SNP Nexus

SNPshotrs104895322
SNPdbers104895322
MSV3drs104895322
GWAS Ctlgrs104895322
Max Magnitude0
ClinVar
Risk rs104895322(T;T)
Alt rs104895322(T;T)
Reference rs104895322(;)
Significance Pathogenic
Disease Mevalonic aciduria Hyperimmunoglobulin D with periodic fever
Variation info
Gene MVK MMAB
CLNDBN Mevalonic aciduria Hyperimmunoglobulin D with periodic fever
Reversed 0
HGVS NC_000012.11:g.110012699dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000074424.18, RCV000083866.1,