rs1800555

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs1800555(A;A)

Make rs1800555(A;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

93998061

Gene

ABCA4

is a	snp
is	mentioned by
dbSNP	rs1800555
dbSNP (classic)	rs1800555
ClinGen	rs1800555
ebi	rs1800555
HLI	rs1800555
Exac	rs1800555
Gnomad	rs1800555
Varsome	rs1800555
LitVar	rs1800555
Map	rs1800555
PheGenI	rs1800555
Biobank	rs1800555
1000 genomes	rs1800555
hgdp	rs1800555
ensembl	rs1800555
geneview	rs1800555
scholar	rs1800555
google	rs1800555
pharmgkb	rs1800555
gwascentral	rs1800555
openSNP	rs1800555
23andMe	rs1800555
SNPshot	rs1800555
SNPdbe	rs1800555
MSV3d	rs1800555
GWAS Ctlg	rs1800555

GMAF

0.006887

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	601691
Desc
Variant	0006
Related	also

ClinVar
Risk	rs1800555(A;A)
Alt	rs1800555(A;A)
Reference	Rs1800555(G;G)
Significance	Other
Disease	MACULAR DEGENERATION not provided not specified Stargardt Disease Cone-Rod Dystrophy Macular degeneration Retinitis Pigmentosa
Variation	info
Gene	ABCA4
CLNDBN	MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO not provided not specified Stargardt Disease, Recessive Cone-Rod Dystrophy, Recessive Macular degeneration Retinitis Pigmentosa, Recessive
Reversed	1
HGVS	NC_000001.10:g.94463617C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008336.4, RCV000085827.1, RCV000243384.2, RCV000268191.1, RCV000323169.1, RCV000359301.1, RCV000362825.1,