rs1057516062

Orientation

plus

Stabilized

plus

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

Make rs1057516062(C;C)

Make rs1057516062(C;T)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

8418

Gene

ATP8

is a	snp
is	mentioned by
dbSNP	rs1057516062
dbSNP (classic)	rs1057516062
ClinGen	rs1057516062
ebi	rs1057516062
HLI	rs1057516062
Exac	rs1057516062
Gnomad	rs1057516062
Varsome	rs1057516062
LitVar	rs1057516062
Map	rs1057516062
PheGenI	rs1057516062
Biobank	rs1057516062
1000 genomes	rs1057516062
hgdp	rs1057516062
ensembl	rs1057516062
geneview	rs1057516062
scholar	rs1057516062
google	rs1057516062
pharmgkb	rs1057516062
gwascentral	rs1057516062
openSNP	rs1057516062
23andMe	rs1057516062
SNPshot	rs1057516062
SNPdbe	rs1057516062
MSV3d	rs1057516062
GWAS Ctlg	rs1057516062

Max Magnitude

0

ClinVar
Risk	rs1057516062(C;C)
Alt	rs1057516062(C;C)
Reference	Rs1057516062(T;T)
Significance	Probable-Pathogenic
Disease	Optic neuropathy
Variation	info
Gene	ATP8
CLNDBN	Optic neuropathy
Reversed	0
HGVS	NC_012920.1:m.8418T>C
CLNSRC
CLNACC	RCV000408923.1,