rs104895300

Orientation

plus

Stabilized

plus

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

Make rs104895300(C;T)

Make rs104895300(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109581523

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs104895300
dbSNP (classic)	rs104895300
ClinGen	rs104895300
ebi	rs104895300
HLI	rs104895300
Exac	rs104895300
Gnomad	rs104895300
Varsome	rs104895300
LitVar	rs104895300
Map	rs104895300
PheGenI	rs104895300
Biobank	rs104895300
1000 genomes	rs104895300
hgdp	rs104895300
ensembl	rs104895300
geneview	rs104895300
scholar	rs104895300
google	rs104895300
pharmgkb	rs104895300
gwascentral	rs104895300
openSNP	rs104895300
23andMe	rs104895300
SNPshot	rs104895300
SNPdbe	rs104895300
MSV3d	rs104895300
GWAS Ctlg	rs104895300

Max Magnitude

0

ClinVar
Risk	rs104895300(T;T)
Alt	rs104895300(T;T)
Reference	Rs104895300(C;C)
Significance	Pathogenic
Disease	Hyperimmunoglobulin D with periodic fever not provided
Variation	info
Gene	MVK
CLNDBN	Hyperimmunoglobulin D with periodic fever not provided
Reversed	0
HGVS	NC_000012.11:g.110019328C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032937.25, RCV000445120.1,