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rs145100473

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs145100473(C;T)
Make rs145100473(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position50524071
GeneNCAPH2, SCO2
is asnp
is mentioned by
dbSNPrs145100473
dbSNP (classic)rs145100473
ClinGenrs145100473
ebirs145100473
HLIrs145100473
Exacrs145100473
Gnomadrs145100473
Varsomers145100473
LitVarrs145100473
Maprs145100473
PheGenIrs145100473
Biobankrs145100473
1000 genomesrs145100473
hgdprs145100473
ensemblrs145100473
geneviewrs145100473
scholarrs145100473
googlers145100473
pharmgkbrs145100473
gwascentralrs145100473
openSNPrs145100473
23andMers145100473
SNPshotrs145100473
SNPdbers145100473
MSV3drs145100473
GWAS Ctlgrs145100473
Max Magnitude0
ClinVar
Risk rs145100473(T;T)
Alt rs145100473(T;T)
Reference Rs145100473(C;C)
Significance Pathogenic
Disease Myopia 6
Variation info
Gene SCO2 NCAPH2
CLNDBN Myopia 6
Reversed 0
HGVS NC_000022.10:g.50962500C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000043620.3,