rs57218384

Orientation

minus

Stabilized

minus

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

Make rs57218384(C;C)

Make rs57218384(C;G)

Reference

GRCh37 37.1/132

Chromosome

17

Position

40866783

Gene	KRT12, LOC105371777

is a	snp
is	mentioned by
dbSNP	rs57218384
dbSNP (classic)	rs57218384
ClinGen	rs57218384
ebi	rs57218384
HLI	rs57218384
Exac	rs57218384
Gnomad	rs57218384
Varsome	rs57218384
LitVar	rs57218384
Map	rs57218384
PheGenI	rs57218384
Biobank	rs57218384
1000 genomes	rs57218384
hgdp	rs57218384
ensembl	rs57218384
geneview	rs57218384
scholar	rs57218384
google	rs57218384
pharmgkb	rs57218384
gwascentral	rs57218384
openSNP	rs57218384
23andMe	rs57218384
SNPshot	rs57218384
SNPdbe	rs57218384
MSV3d	rs57218384
GWAS Ctlg	rs57218384

Max Magnitude

0

OMIM	601687
Desc
Variant	0001
Related	also

OMIM	601687
Desc
Variant	0004
Related	also

ClinVar
Risk	rs57218384(C;C) rs57218384(T;T)
Alt	rs57218384(C;C) rs57218384(T;T)
Reference	Rs57218384(G;G)
Significance	Pathogenic
Disease	Meesman's corneal dystrophy not provided
Variation	info
Gene	KRT12
CLNDBN	Meesman's corneal dystrophy not provided
Reversed	1
HGVS	NC_000017.10:g.39023035C>A; NC_000017.10:g.39023035C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008386.3, RCV000056422.1, RCV000008383.3, RCV000056421.1,