rs121917790

Orientation

plus

Stabilized

plus

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

Make rs121917790(C;T)

Make rs121917790(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109581517

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs121917790
dbSNP (classic)	rs121917790
ClinGen	rs121917790
ebi	rs121917790
HLI	rs121917790
Exac	rs121917790
Gnomad	rs121917790
Varsome	rs121917790
LitVar	rs121917790
Map	rs121917790
PheGenI	rs121917790
Biobank	rs121917790
1000 genomes	rs121917790
hgdp	rs121917790
ensembl	rs121917790
geneview	rs121917790
scholar	rs121917790
google	rs121917790
pharmgkb	rs121917790
gwascentral	rs121917790
openSNP	rs121917790
23andMe	rs121917790
SNPshot	rs121917790
SNPdbe	rs121917790
MSV3d	rs121917790
GWAS Ctlg	rs121917790

Max Magnitude

0

OMIM	251170
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121917790(T;T)
Alt	rs121917790(T;T)
Reference	Rs121917790(C;C)
Significance	Pathogenic
Disease	Hyperimmunoglobulin D with periodic fever
Variation	info
Gene	MVK
CLNDBN	Hyperimmunoglobulin D with periodic fever
Reversed	0
HGVS	NC_000012.11:g.110019322C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000012711.17,