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rs150774447

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for Stargardt disease
Make rs150774447(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position94111579
GeneABCA4
is asnp
is mentioned by
dbSNPrs150774447
dbSNP (classic)rs150774447
ClinGenrs150774447
ebirs150774447
HLIrs150774447
Exacrs150774447
Gnomadrs150774447
Varsomers150774447
LitVarrs150774447
Maprs150774447
PheGenIrs150774447
Biobankrs150774447
1000 genomesrs150774447
hgdprs150774447
ensemblrs150774447
geneviewrs150774447
scholarrs150774447
googlers150774447
pharmgkbrs150774447
gwascentralrs150774447
openSNPrs150774447
23andMers150774447
SNPshotrs150774447
SNPdbers150774447
MSV3drs150774447
GWAS Ctlgrs150774447
Max Magnitude3
ClinVar
Risk rs150774447(A;A) rs150774447(T;T)
Alt rs150774447(A;A) rs150774447(T;T)
Reference Rs150774447(C;C)
Significance Other
Disease not provided Stargardt disease 1 Retinitis pigmentosa 19 Cone-rod dystrophy 3
Variation info
Gene ABCA4
CLNDBN not provided Stargardt disease 1 Retinitis pigmentosa 19 Cone-rod dystrophy 3
Reversed 0
HGVS NC_000001.10:g.94577135C>A; NC_000001.10:g.94577135C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000085409.1, RCV000132585.1, RCV000085408.2, RCV000210980.3, RCV000335021.1, RCV000401237.1,