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rs104894480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894480(A;G)
Make rs104894480(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position60509891
GeneSIX6
is asnp
is mentioned by
dbSNPrs104894480
dbSNP (classic)rs104894480
ClinGenrs104894480
ebirs104894480
HLIrs104894480
Exacrs104894480
Gnomadrs104894480
Varsomers104894480
LitVarrs104894480
Maprs104894480
PheGenIrs104894480
Biobankrs104894480
1000 genomesrs104894480
hgdprs104894480
ensemblrs104894480
geneviewrs104894480
scholarrs104894480
googlers104894480
pharmgkbrs104894480
gwascentralrs104894480
openSNPrs104894480
23andMers104894480
SNPshotrs104894480
SNPdbers104894480
MSV3drs104894480
GWAS Ctlgrs104894480
Max Magnitude0
OMIM606326
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894480(G;G)
Alt rs104894480(G;G)
Reference Rs104894480(A;A)
Significance Pathogenic
Disease Cataract
Variation info
Gene SIX6
CLNDBN Cataract, microphthalmia and nystagmus
Reversed 0
HGVS NC_000014.8:g.60976609A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004686.4,