rs28934897

Orientation

plus

Stabilized

plus

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

Make rs28934897(A;A)

Make rs28934897(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109596515

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs28934897
dbSNP (classic)	rs28934897
ClinGen	rs28934897
ebi	rs28934897
HLI	rs28934897
Exac	rs28934897
Gnomad	rs28934897
Varsome	rs28934897
LitVar	rs28934897
Map	rs28934897
PheGenI	rs28934897
Biobank	rs28934897
1000 genomes	rs28934897
hgdp	rs28934897
ensembl	rs28934897
geneview	rs28934897
scholar	rs28934897
google	rs28934897
pharmgkb	rs28934897
gwascentral	rs28934897
openSNP	rs28934897
23andMe	rs28934897
SNPshot	rs28934897
SNPdbe	rs28934897
MSV3d	rs28934897
GWAS Ctlg	rs28934897

Max Magnitude

0

OMIM	251170
Desc	HYPER-IgD SYNDROME
Variant	0002
Related	also

ClinVar
Risk	rs28934897(A;A)
Alt	rs28934897(A;A)
Reference	Rs28934897(G;G)
Significance	Pathogenic
Disease	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not provided
Variation	info
Gene	MVK
CLNDBN	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria not provided
Reversed	0
HGVS	NC_000012.11:g.110034320G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012705.19, RCV000191108.1, RCV000221789.1,