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rs62642574

From SNPedia

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


Make rs62642574(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position94024994
GeneABCA4
is asnp
is mentioned by
dbSNPrs62642574
dbSNP (classic)rs62642574
ClinGenrs62642574
ebirs62642574
HLIrs62642574
Exacrs62642574
Gnomadrs62642574
Varsomers62642574
LitVarrs62642574
Maprs62642574
PheGenIrs62642574
Biobankrs62642574
1000 genomesrs62642574
hgdprs62642574
ensemblrs62642574
geneviewrs62642574
scholarrs62642574
googlers62642574
pharmgkbrs62642574
gwascentralrs62642574
openSNPrs62642574
23andMers62642574
SNPshotrs62642574
SNPdbers62642574
MSV3drs62642574
GWAS Ctlgrs62642574
Max Magnitude3
ClinVar
Risk rs62642574(A;A)
Alt rs62642574(A;A)
Reference Rs62642574(G;G)
Significance Other
Disease not provided Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94490550C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085657.1, RCV000177510.2,