rs104895322

Orientation

plus

Stabilized

plus

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

Make rs104895322(-;T)

Make rs104895322(T;T)

Reference

GRCh38 38.1/142

Chromosome

12

Position

109574894

Gene

MMAB, MVK

is a	snp
is	mentioned by
dbSNP	rs104895322
dbSNP (classic)	rs104895322
ClinGen	rs104895322
ebi	rs104895322
HLI	rs104895322
Exac	rs104895322
Gnomad	rs104895322
Varsome	rs104895322
LitVar	rs104895322
Map	rs104895322
PheGenI	rs104895322
Biobank	rs104895322
1000 genomes	rs104895322
hgdp	rs104895322
ensembl	rs104895322
geneview	rs104895322
scholar	rs104895322
google	rs104895322
pharmgkb	rs104895322
gwascentral	rs104895322
openSNP	rs104895322
23andMe	rs104895322
SNPshot	rs104895322
SNPdbe	rs104895322
MSV3d	rs104895322
GWAS Ctlg	rs104895322

Max Magnitude

0

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,