rs104895301

Orientation

plus

Stabilized

plus

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

Make rs104895301(A;A)

Make rs104895301(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109586098

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs104895301
dbSNP (classic)	rs104895301
ClinGen	rs104895301
ebi	rs104895301
HLI	rs104895301
Exac	rs104895301
Gnomad	rs104895301
Varsome	rs104895301
LitVar	rs104895301
Map	rs104895301
PheGenI	rs104895301
Biobank	rs104895301
1000 genomes	rs104895301
hgdp	rs104895301
ensembl	rs104895301
geneview	rs104895301
scholar	rs104895301
google	rs104895301
pharmgkb	rs104895301
gwascentral	rs104895301
openSNP	rs104895301
23andMe	rs104895301
SNPshot	rs104895301
SNPdbe	rs104895301
MSV3d	rs104895301
GWAS Ctlg	rs104895301

Max Magnitude

0

ClinVar
Risk	rs104895301(A;A)
Alt	rs104895301(A;A)
Reference	Rs104895301(G;G)
Significance	Pathogenic
Disease	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis
Variation	info
Gene	MVK
CLNDBN	Hyperimmunoglobulin D with periodic fever Mevalonic aciduria Porokeratosis, disseminated superficial actinic 1
Reversed	0
HGVS	NC_000012.11:g.110023903G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000032938.26, RCV000032939.25, RCV000032940.18,