rs1057518767

Orientation

minus

Stabilized

minus

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

Make rs1057518767(A;A)

Make rs1057518767(A;T)

Reference

GRCh38.p7 38.3/150

Chromosome

1

Position

94098874

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1057518767
dbSNP (classic)	rs1057518767
ClinGen	rs1057518767
ebi	rs1057518767
HLI	rs1057518767
Exac	rs1057518767
Gnomad	rs1057518767
Varsome	rs1057518767
LitVar	rs1057518767
Map	rs1057518767
PheGenI	rs1057518767
Biobank	rs1057518767
1000 genomes	rs1057518767
hgdp	rs1057518767
ensembl	rs1057518767
geneview	rs1057518767
scholar	rs1057518767
google	rs1057518767
pharmgkb	rs1057518767
gwascentral	rs1057518767
openSNP	rs1057518767
23andMe	rs1057518767
SNPshot	rs1057518767
SNPdbe	rs1057518767
MSV3d	rs1057518767
GWAS Ctlg	rs1057518767

Max Magnitude

0

ClinVar
Risk	rs1057518767(A;A)
Alt	rs1057518767(A;A)
Reference	Rs1057518767(T;T)
Significance	Probable-Pathogenic
Disease	Central scotoma Macular degeneration Retinal atrophy Visual impairment
Variation	info
Gene	ABCA4
CLNDBN	Central scotoma Macular degeneration Retinal atrophy Visual impairment
Reversed	1
HGVS	NC_000001.10:g.94564430A>T
CLNSRC
CLNACC	RCV000415009.1,