rs398122911

Orientation

plus

Stabilized

plus

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

Make rs398122911(C;C)

Make rs398122911(C;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

109596480

Gene

MVK

is a	snp
is	mentioned by
dbSNP	rs398122911
dbSNP (classic)	rs398122911
ClinGen	rs398122911
ebi	rs398122911
HLI	rs398122911
Exac	rs398122911
Gnomad	rs398122911
Varsome	rs398122911
LitVar	rs398122911
Map	rs398122911
PheGenI	rs398122911
Biobank	rs398122911
1000 genomes	rs398122911
hgdp	rs398122911
ensembl	rs398122911
geneview	rs398122911
scholar	rs398122911
google	rs398122911
pharmgkb	rs398122911
gwascentral	rs398122911
openSNP	rs398122911
23andMe	rs398122911
SNPshot	rs398122911
SNPdbe	rs398122911
MSV3d	rs398122911
GWAS Ctlg	rs398122911

Max Magnitude

0

ClinVar
Risk	rs398122911(C;C)
Alt	rs398122911(C;C)
Reference	Rs398122911(T;T)
Significance	Pathogenic
Disease	Porokeratosis
Variation	info
Gene	MVK
CLNDBN	Porokeratosis, disseminated superficial actinic 1
Reversed	0
HGVS	NC_000012.11:g.110034285T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032945.25,