rs28937878

Orientation

minus

Stabilized

minus

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

Make rs28937878(A;A)

Make rs28937878(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75479220

Gene

CHST6

is a	snp
is	mentioned by
dbSNP	rs28937878
dbSNP (classic)	rs28937878
ClinGen	rs28937878
ebi	rs28937878
HLI	rs28937878
Exac	rs28937878
Gnomad	rs28937878
Varsome	rs28937878
LitVar	rs28937878
Map	rs28937878
PheGenI	rs28937878
Biobank	rs28937878
1000 genomes	rs28937878
hgdp	rs28937878
ensembl	rs28937878
geneview	rs28937878
scholar	rs28937878
google	rs28937878
pharmgkb	rs28937878
gwascentral	rs28937878
openSNP	rs28937878
23andMe	rs28937878
SNPshot	rs28937878
SNPdbe	rs28937878
MSV3d	rs28937878
GWAS Ctlg	rs28937878

Max Magnitude

0

OMIM	605294
Desc	MACULAR CORNEAL DYSTROPHY, TYPE I
Variant	0002
Related	also

ClinVar
Risk	rs28937878(A;A)
Alt	rs28937878(A;A)
Reference	Rs28937878(C;C)
Significance	Pathogenic
Disease	Macular corneal dystrophy Type I
Variation	info
Gene	CHST6
CLNDBN	Macular corneal dystrophy Type I
Reversed	1
HGVS	NC_000016.9:g.75513118G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005376.5,