rs28936695

Orientation

minus

Stabilized

minus

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

Make rs28936695(C;C)

Make rs28936695(C;T)

Reference

GRCh37 37.1/131

Chromosome

17

Position

40866801

Gene	KRT12, LOC105371777

is a	snp
is	mentioned by
dbSNP	rs28936695
dbSNP (classic)	rs28936695
ClinGen	rs28936695
ebi	rs28936695
HLI	rs28936695
Exac	rs28936695
Gnomad	rs28936695
Varsome	rs28936695
LitVar	rs28936695
Map	rs28936695
PheGenI	rs28936695
Biobank	rs28936695
1000 genomes	rs28936695
hgdp	rs28936695
ensembl	rs28936695
geneview	rs28936695
scholar	rs28936695
google	rs28936695
pharmgkb	rs28936695
gwascentral	rs28936695
openSNP	rs28936695
23andMe	rs28936695
SNPshot	rs28936695
SNPdbe	rs28936695
MSV3d	rs28936695
GWAS Ctlg	rs28936695

Max Magnitude

0

OMIM	601687
Desc	MEESMANN CORNEAL DYSTROPHY
Variant	0007
Related	also

ClinVar
Risk	rs28936695(C;C)
Alt	rs28936695(C;C)
Reference	Rs28936695(T;T)
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.39023053A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008389.3, RCV000056417.1,