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rs104895334

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTACTGGTGTCTGCTCCGG;CTACTGGTGTCTGCTCCGG) 0 common in clinvar
Make rs104895334(-;-)
Make rs104895334(-;CTACTGGTGTCTGCTCCGG)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position109574838
GeneMMAB, MVK
is asnp
is mentioned by
dbSNPrs104895334
dbSNP (old)rs104895334
ClinGenrs104895334
ebirs104895334
HLIrs104895334
Exacrs104895334
Varsomers104895334
Maprs104895334
PheGenIrs104895334
Biobankrs104895334
1000 genomesrs104895334
hgdprs104895334
ensemblrs104895334
gopubmedrs104895334
geneviewrs104895334
scholarrs104895334
googlers104895334
pharmgkbrs104895334
gwascentralrs104895334
openSNPrs104895334
23andMers104895334
23andMe allrs104895334
SNP Nexus

SNPshotrs104895334
SNPdbers104895334
MSV3drs104895334
GWAS Ctlgrs104895334
Max Magnitude0
ClinVar
Risk rs104895334(-;-)
Alt rs104895334(-;-)
Reference Rs104895334(CTACTGGTGTCTGCTCCGG;CTACTGGTGTCTGCTCCGG)
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.110012643_110012661del19
CLNSRC OMIM Allelic Variant
CLNACC RCV000012713.24, RCV000083827.1,