rs713993047

Orientation

minus

Stabilized

minus

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

Make rs713993047(C;C)

Make rs713993047(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

6

Position

76034628

Gene

IMPG1

is a	snp
is	mentioned by
dbSNP	rs713993047
dbSNP (classic)	rs713993047
ClinGen	rs713993047
ebi	rs713993047
HLI	rs713993047
Exac	rs713993047
Gnomad	rs713993047
Varsome	rs713993047
LitVar	rs713993047
Map	rs713993047
PheGenI	rs713993047
Biobank	rs713993047
1000 genomes	rs713993047
hgdp	rs713993047
ensembl	rs713993047
geneview	rs713993047
scholar	rs713993047
google	rs713993047
pharmgkb	rs713993047
gwascentral	rs713993047
openSNP	rs713993047
23andMe	rs713993047
SNPshot	rs713993047
SNPdbe	rs713993047
MSV3d	rs713993047
GWAS Ctlg	rs713993047

Max Magnitude

0

ClinVar
Risk	rs713993047(C;C)
Alt	rs713993047(C;C)
Reference	Rs713993047(T;T)
Significance	Pathogenic
Disease	Macular dystrophy
Variation	info
Gene	IMPG1
CLNDBN	Macular dystrophy, vitelliform, 4
Reversed	1
HGVS	NC_000006.11:g.76744345A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000149550.5,