rs397514571

Orientation

plus

Stabilized

plus

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

Make rs397514571(C;C)

Make rs397514571(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109576041

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs397514571
dbSNP (classic)	rs397514571
ClinGen	rs397514571
ebi	rs397514571
HLI	rs397514571
Exac	rs397514571
Gnomad	rs397514571
Varsome	rs397514571
LitVar	rs397514571
Map	rs397514571
PheGenI	rs397514571
Biobank	rs397514571
1000 genomes	rs397514571
hgdp	rs397514571
ensembl	rs397514571
geneview	rs397514571
scholar	rs397514571
google	rs397514571
pharmgkb	rs397514571
gwascentral	rs397514571
openSNP	rs397514571
23andMe	rs397514571
SNPshot	rs397514571
SNPdbe	rs397514571
MSV3d	rs397514571
GWAS Ctlg	rs397514571

Max Magnitude

0

ClinVar
Risk	rs397514571(C;C)
Alt	rs397514571(C;C)
Reference	Rs397514571(T;T)
Significance	Pathogenic
Disease	Porokeratosis
Variation	info
Gene	MVK
CLNDBN	Porokeratosis, disseminated superficial actinic 1
Reversed	0
HGVS	NC_000012.11:g.110013846T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032943.22,