rs28937879

Orientation

minus

Stabilized

minus

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

Make rs28937879(G;G)

Make rs28937879(G;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75479230

Gene

CHST6

is a	snp
is	mentioned by
dbSNP	rs28937879
dbSNP (classic)	rs28937879
ClinGen	rs28937879
ebi	rs28937879
HLI	rs28937879
Exac	rs28937879
Gnomad	rs28937879
Varsome	rs28937879
LitVar	rs28937879
Map	rs28937879
PheGenI	rs28937879
Biobank	rs28937879
1000 genomes	rs28937879
hgdp	rs28937879
ensembl	rs28937879
geneview	rs28937879
scholar	rs28937879
google	rs28937879
pharmgkb	rs28937879
gwascentral	rs28937879
openSNP	rs28937879
23andMe	rs28937879
SNPshot	rs28937879
SNPdbe	rs28937879
MSV3d	rs28937879
GWAS Ctlg	rs28937879

Max Magnitude

0

OMIM	605294
Desc	MACULAR CORNEAL DYSTROPHY, TYPE I
Variant	0005
Related	also

ClinVar
Risk	rs28937879(G;G)
Alt	rs28937879(G;G)
Reference	Rs28937879(T;T)
Significance	Pathogenic
Disease	Macular corneal dystrophy Type I Macular corneal dystrophy
Variation	info
Gene	CHST6
CLNDBN	Macular corneal dystrophy Type I Macular corneal dystrophy, type II
Reversed	1
HGVS	NC_000016.9:g.75513128A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005379.5, RCV000005380.5,