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rs151341424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs151341424(AA;AA)
Make rs151341424(AA;GG)
ReferenceGRCh38 38.1/141
Chromosome15
Position74190856
GeneSTRA6
is asnp
is mentioned by
dbSNPrs151341424
dbSNP (classic)rs151341424
ClinGenrs151341424
ebirs151341424
HLIrs151341424
Exacrs151341424
Gnomadrs151341424
Varsomers151341424
LitVarrs151341424
Maprs151341424
PheGenIrs151341424
Biobankrs151341424
1000 genomesrs151341424
hgdprs151341424
ensemblrs151341424
geneviewrs151341424
scholarrs151341424
googlers151341424
pharmgkbrs151341424
gwascentralrs151341424
openSNPrs151341424
23andMers151341424
SNPshotrs151341424
SNPdbers151341424
MSV3drs151341424
GWAS Ctlgrs151341424
Max Magnitude0
ClinVar
Risk rs151341424(AA;AA)
Alt rs151341424(AA;AA)
Reference Rs151341424(GG;GG)
Significance Pathogenic
Disease Microphthalmia Microphthalmia syndromic 9
Variation info
Gene STRA6
CLNDBN Microphthalmia, isolated, with coloboma 8 Microphthalmia syndromic 9
Reversed 1
HGVS NC_000015.9:g.74483197_74483198delCCinsTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000032957.3, RCV000032958.3,