rs386834241

Orientation

plus

Stabilized

plus

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

Make rs386834241(-;A)

Make rs386834241(A;A)

Reference

GRCh38 38.1/141

Chromosome

14

Position

88429395

Gene

SPATA7

is a	snp
is	mentioned by
dbSNP	rs386834241
dbSNP (classic)	rs386834241
ClinGen	rs386834241
ebi	rs386834241
HLI	rs386834241
Exac	rs386834241
Gnomad	rs386834241
Varsome	rs386834241
LitVar	rs386834241
Map	rs386834241
PheGenI	rs386834241
Biobank	rs386834241
1000 genomes	rs386834241
hgdp	rs386834241
ensembl	rs386834241
geneview	rs386834241
scholar	rs386834241
google	rs386834241
pharmgkb	rs386834241
gwascentral	rs386834241
openSNP	rs386834241
23andMe	rs386834241
SNPshot	rs386834241
SNPdbe	rs386834241
MSV3d	rs386834241
GWAS Ctlg	rs386834241

Max Magnitude

0

ClinVar
Risk	rs386834241(A;A)
Alt	rs386834241(A;A)
Reference	Rs386834241(-;-)
Significance	Pathogenic
Disease	Leber congenital amaurosis 3
Variation	info
Gene	SPATA7
CLNDBN	Leber congenital amaurosis 3
Reversed	0
HGVS	NC_000014.8:g.88895739dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001461.5,