rs104895362

Orientation

plus

Stabilized

plus

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

Make rs104895362(G;T)

Make rs104895362(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

109595182

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs104895362
dbSNP (classic)	rs104895362
ClinGen	rs104895362
ebi	rs104895362
HLI	rs104895362
Exac	rs104895362
Gnomad	rs104895362
Varsome	rs104895362
LitVar	rs104895362
Map	rs104895362
PheGenI	rs104895362
Biobank	rs104895362
1000 genomes	rs104895362
hgdp	rs104895362
ensembl	rs104895362
geneview	rs104895362
scholar	rs104895362
google	rs104895362
pharmgkb	rs104895362
gwascentral	rs104895362
openSNP	rs104895362
23andMe	rs104895362
SNPshot	rs104895362
SNPdbe	rs104895362
MSV3d	rs104895362
GWAS Ctlg	rs104895362

Max Magnitude

0

ClinVar
Risk	rs104895362(A;A) rs104895362(T;T)
Alt	rs104895362(A;A) rs104895362(T;T)
Reference	Rs104895362(G;G)
Significance	Pathogenic
Disease	Porokeratosis Hyperimmunoglobulin D with periodic fever
Variation	info
Gene	MVK
CLNDBN	Porokeratosis, disseminated superficial actinic 1 Hyperimmunoglobulin D with periodic fever
Reversed	0
HGVS	NC_000012.11:g.110032987G>A; NC_000012.11:g.110032987G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000201792.1, RCV000083814.1,