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rs41292677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
(G;G) 0 common in clinvar
Make rs41292677(C;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position94001992
GeneABCA4
is asnp
is mentioned by
dbSNPrs41292677
ebirs41292677
HLIrs41292677
Exacrs41292677
Varsomers41292677
Maprs41292677
PheGenIrs41292677
hapmaprs41292677
1000 genomesrs41292677
hgdprs41292677
ensemblrs41292677
gopubmedrs41292677
geneviewrs41292677
scholarrs41292677
googlers41292677
pharmgkbrs41292677
gwascentralrs41292677
openSNPrs41292677
23andMers41292677
23andMe allrs41292677
SNP Nexus

SNPshotrs41292677
SNPdbers41292677
MSV3drs41292677
GWAS Ctlgrs41292677
GMAF0.003673
Max Magnitude0
OMIM601691
Desc
Variant0005
Relatedalso


ClinVar
Risk rs41292677(G;G)
Alt rs41292677(G;G)
Reference rs41292677(C;C)
Significance Pathogenic
Disease Stargardt disease 1 not provided
Variation info
Gene ABCA4
CLNDBN Stargardt disease 1 not provided
Reversed 0
HGVS NC_000001.10:g.94467548C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000008335.2, RCV000078671.5,



GET Evidence
ABCA4-V2050L
aa_change Val2050Leu
aa_change_short V2050L
impact pathogenic
qualified_impact High clinical importance, Uncertain pathogenic
overall_frequency 0.00371816
summary Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner.