rs397514725

Orientation

minus

Stabilized

minus

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

Make rs397514725(C;C)

Make rs397514725(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

96160524

Gene

GDF6

is a	snp
is	mentioned by
dbSNP	rs397514725
dbSNP (classic)	rs397514725
ClinGen	rs397514725
ebi	rs397514725
HLI	rs397514725
Exac	rs397514725
Gnomad	rs397514725
Varsome	rs397514725
LitVar	rs397514725
Map	rs397514725
PheGenI	rs397514725
Biobank	rs397514725
1000 genomes	rs397514725
hgdp	rs397514725
ensembl	rs397514725
geneview	rs397514725
scholar	rs397514725
google	rs397514725
pharmgkb	rs397514725
gwascentral	rs397514725
openSNP	rs397514725
23andMe	rs397514725
SNPshot	rs397514725
SNPdbe	rs397514725
MSV3d	rs397514725
GWAS Ctlg	rs397514725

Max Magnitude

0

ClinVar
Risk	rs397514725(A;A) rs397514725(C;C)
Alt	rs397514725(A;A) rs397514725(C;C)
Reference	Rs397514725(G;G)
Significance	Pathogenic
Disease	Leber congenital amaurosis 17
Variation	info
Gene	GDF6
CLNDBN	Leber congenital amaurosis 17
Reversed	1
HGVS	NC_000008.10:g.97172752C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000054426.3,