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rs104895334

From SNPedia

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,