rs397514570

Orientation

plus

Stabilized

plus

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

Make rs397514570(C;C)

Make rs397514570(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109590857

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs397514570
dbSNP (classic)	rs397514570
ClinGen	rs397514570
ebi	rs397514570
HLI	rs397514570
Exac	rs397514570
Gnomad	rs397514570
Varsome	rs397514570
LitVar	rs397514570
Map	rs397514570
PheGenI	rs397514570
Biobank	rs397514570
1000 genomes	rs397514570
hgdp	rs397514570
ensembl	rs397514570
geneview	rs397514570
scholar	rs397514570
google	rs397514570
pharmgkb	rs397514570
gwascentral	rs397514570
openSNP	rs397514570
23andMe	rs397514570
SNPshot	rs397514570
SNPdbe	rs397514570
MSV3d	rs397514570
GWAS Ctlg	rs397514570

Max Magnitude

0

ClinVar
Risk	rs397514570(C;C)
Alt	rs397514570(C;C)
Reference	Rs397514570(T;T)
Significance	Pathogenic
Disease	Porokeratosis
Variation	info
Gene	MVK
CLNDBN	Porokeratosis, disseminated superficial actinic 1
Reversed	0
HGVS	NC_000012.11:g.110028662T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032936.24,