rs72547544

Orientation

minus

Stabilized

minus

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

Make rs72547544(A;G)

Make rs72547544(G;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

75479500

Gene

CHST6

is a	snp
is	mentioned by
dbSNP	rs72547544
dbSNP (classic)	rs72547544
ClinGen	rs72547544
ebi	rs72547544
HLI	rs72547544
Exac	rs72547544
Gnomad	rs72547544
Varsome	rs72547544
LitVar	rs72547544
Map	rs72547544
PheGenI	rs72547544
Biobank	rs72547544
1000 genomes	rs72547544
hgdp	rs72547544
ensembl	rs72547544
geneview	rs72547544
scholar	rs72547544
google	rs72547544
pharmgkb	rs72547544
gwascentral	rs72547544
openSNP	rs72547544
23andMe	rs72547544
SNPshot	rs72547544
SNPdbe	rs72547544
MSV3d	rs72547544
GWAS Ctlg	rs72547544

Max Magnitude

0

OMIM	605294
Desc
Variant	0007
Related	also

ClinVar
Risk	rs72547544(G;G)
Alt	rs72547544(G;G)
Reference	Rs72547544(A;A)
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.75513398T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000005382.5,