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rs1057518767

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057518767(A;A)
Make rs1057518767(A;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position94098874
GeneABCA4
is asnp
is mentioned by
dbSNPrs1057518767
dbSNP (old)rs1057518767
ClinGenrs1057518767
ebirs1057518767
HLIrs1057518767
Exacrs1057518767
Gnomadrs1057518767
Varsomers1057518767
Maprs1057518767
PheGenIrs1057518767
Biobankrs1057518767
1000 genomesrs1057518767
hgdprs1057518767
ensemblrs1057518767
gopubmedrs1057518767
geneviewrs1057518767
scholarrs1057518767
googlers1057518767
pharmgkbrs1057518767
gwascentralrs1057518767
openSNPrs1057518767
23andMers1057518767
23andMe allrs1057518767
SNPshotrs1057518767
SNPdbers1057518767
MSV3drs1057518767
GWAS Ctlgrs1057518767
Max Magnitude0
ClinVar
Risk rs1057518767(A;A)
Alt rs1057518767(A;A)
Reference Rs1057518767(T;T)
Significance Probable-Pathogenic
Disease Central scotoma Macular degeneration Retinal atrophy Visual impairment
Variation info
Gene ABCA4
CLNDBN Central scotoma Macular degeneration Retinal atrophy Visual impairment
Reversed 1
HGVS NC_000001.10:g.94564430A>T
CLNSRC
CLNACC RCV000415009.1,