rs104895373

Orientation

plus

Stabilized

plus

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

Make rs104895373(-;C)

Make rs104895373(C;C)

Reference

GRCh38 38.1/142

Chromosome

12

Position

109581440

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs104895373
dbSNP (classic)	rs104895373
ClinGen	rs104895373
ebi	rs104895373
HLI	rs104895373
Exac	rs104895373
Gnomad	rs104895373
Varsome	rs104895373
LitVar	rs104895373
Map	rs104895373
PheGenI	rs104895373
Biobank	rs104895373
1000 genomes	rs104895373
hgdp	rs104895373
ensembl	rs104895373
geneview	rs104895373
scholar	rs104895373
google	rs104895373
pharmgkb	rs104895373
gwascentral	rs104895373
openSNP	rs104895373
23andMe	rs104895373
SNPshot	rs104895373
SNPdbe	rs104895373
MSV3d	rs104895373
GWAS Ctlg	rs104895373

Max Magnitude

0

ClinVar
Risk	rs104895373(C;C)
Alt	rs104895373(C;C)
Reference	Rs104895373(-;-)
Significance	Pathogenic
Disease	Mevalonic aciduria Porokeratosis Hyperimmunoglobulin D with periodic fever
Variation	info
Gene	MVK
CLNDBN	Mevalonic aciduria Porokeratosis, disseminated superficial actinic 1 Hyperimmunoglobulin D with periodic fever
Reversed	0
HGVS	NC_000012.11:g.110019245dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032941.26, RCV000074423.20, RCV000083840.1,