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rs62642573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3 Carrier of a mutation for Stargardt disease
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a mutation for Stargardt disease


Make rs62642573(A;A)
ReferenceGRCh38 38.1/142
Chromosome1
Position94031054
GeneABCA4
is asnp
is mentioned by
dbSNPrs62642573
dbSNP (classic)rs62642573
ClinGenrs62642573
ebirs62642573
HLIrs62642573
Exacrs62642573
Gnomadrs62642573
Varsomers62642573
LitVarrs62642573
Maprs62642573
PheGenIrs62642573
Biobankrs62642573
1000 genomesrs62642573
hgdprs62642573
ensemblrs62642573
geneviewrs62642573
scholarrs62642573
googlers62642573
pharmgkbrs62642573
gwascentralrs62642573
openSNPrs62642573
23andMers62642573
SNPshotrs62642573
SNPdbers62642573
MSV3drs62642573
GWAS Ctlgrs62642573
Max Magnitude3


ClinVar
Risk rs62642573(A;A) rs62642573(T;T)
Alt rs62642573(A;A) rs62642573(T;T)
Reference Rs62642573(G;G)
Significance Other
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 1
HGVS NC_000001.10:g.94496610C>A; NC_000001.10:g.94496610C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000408552.1, RCV000085609.1, RCV000132591.2,