rs386833985

Orientation

minus

Stabilized

minus

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

Make rs386833985(A;G)

Make rs386833985(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

91055891

Gene

KERA

is a	snp
is	mentioned by
dbSNP	rs386833985
dbSNP (classic)	rs386833985
ClinGen	rs386833985
ebi	rs386833985
HLI	rs386833985
Exac	rs386833985
Gnomad	rs386833985
Varsome	rs386833985
LitVar	rs386833985
Map	rs386833985
PheGenI	rs386833985
Biobank	rs386833985
1000 genomes	rs386833985
hgdp	rs386833985
ensembl	rs386833985
geneview	rs386833985
scholar	rs386833985
google	rs386833985
pharmgkb	rs386833985
gwascentral	rs386833985
openSNP	rs386833985
23andMe	rs386833985
SNPshot	rs386833985
SNPdbe	rs386833985
MSV3d	rs386833985
GWAS Ctlg	rs386833985

Max Magnitude

0

ClinVar
Risk	rs386833985(G;G)
Alt	rs386833985(G;G)
Reference	Rs386833985(A;A)
Significance	Probable-Pathogenic
Disease	Cornea plana 2
Variation	info
Gene	KERA
CLNDBN	Cornea plana 2
Reversed	1
HGVS	NC_000012.11:g.91449668T>C
CLNSRC	ClinVar
CLNACC	RCV000049962.1,

[PMID 16157807] Clinical and molecular characterization of a family with autosomal recessive cornea plana.