rs104895334

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CTACTGGTGTCTGCTCCGG;CTACTGGTGTCTGCTCCGG)	0	common in clinvar

Make rs104895334(-;-)

Make rs104895334(-;CTACTGGTGTCTGCTCCGG)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

109574838

Gene

MMAB, MVK

is a	snp
is	mentioned by
dbSNP	rs104895334
dbSNP (classic)	rs104895334
ClinGen	rs104895334
ebi	rs104895334
HLI	rs104895334
Exac	rs104895334
Gnomad	rs104895334
Varsome	rs104895334
LitVar	rs104895334
Map	rs104895334
PheGenI	rs104895334
Biobank	rs104895334
1000 genomes	rs104895334
hgdp	rs104895334
ensembl	rs104895334
geneview	rs104895334
scholar	rs104895334
google	rs104895334
pharmgkb	rs104895334
gwascentral	rs104895334
openSNP	rs104895334
23andMe	rs104895334
SNPshot	rs104895334
SNPdbe	rs104895334
MSV3d	rs104895334
GWAS Ctlg	rs104895334

Max Magnitude

0

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,