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rs61750645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 3 Carrier of a mutation for Stargardt disease
Make rs61750645(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome1
Position94001911
GeneABCA4
is asnp
is mentioned by
dbSNPrs61750645
dbSNP (classic)rs61750645
ClinGenrs61750645
ebirs61750645
HLIrs61750645
Exacrs61750645
Gnomadrs61750645
Varsomers61750645
LitVarrs61750645
Maprs61750645
PheGenIrs61750645
Biobankrs61750645
1000 genomesrs61750645
hgdprs61750645
ensemblrs61750645
geneviewrs61750645
scholarrs61750645
googlers61750645
pharmgkbrs61750645
gwascentralrs61750645
openSNPrs61750645
23andMers61750645
SNPshotrs61750645
SNPdbers61750645
MSV3drs61750645
GWAS Ctlgrs61750645
Max Magnitude3


ClinVar
Risk rs61750645(G;G) rs61750645(T;T)
Alt rs61750645(G;G) rs61750645(T;T)
Reference Rs61750645(C;C)
Significance Other
Disease not provided Retinitis pigmentosa 19 Stargardt disease 1
Variation info
Gene ABCA4
CLNDBN not provided Retinitis pigmentosa 19 Stargardt disease 1
Reversed 1
HGVS NC_000001.10:g.94467467G>A; NC_000001.10:g.94467467G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000085797.1, RCV000289413.1, RCV000402409.2, RCV000085796.1,