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rs786205142

From SNPedia

Orientationplus
Geno Mag Summary
(AACCG;AACCG) 0 common in clinvar
Make rs786205142(-;-)
Make rs786205142(-;AACCG)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position60509930
GeneSIX6
is asnp
is mentioned by
dbSNPrs786205142
ebirs786205142
HLIrs786205142
Exacrs786205142
Varsomers786205142
Maprs786205142
PheGenIrs786205142
hapmaprs786205142
1000 genomesrs786205142
hgdprs786205142
ensemblrs786205142
gopubmedrs786205142
geneviewrs786205142
scholarrs786205142
googlers786205142
pharmgkbrs786205142
gwascentralrs786205142
openSNPrs786205142
23andMers786205142
23andMe allrs786205142
SNP Nexus

SNPshotrs786205142
SNPdbers786205142
MSV3drs786205142
GWAS Ctlgrs786205142
Max Magnitude0
ClinVar
Risk rs786205142(;)
Alt rs786205142(;)
Reference rs786205142(AACCG;AACCG)
Significance Pathogenic
Disease Cataract
Variation info
Gene SIX6
CLNDBN Cataract, microphthalmia and nystagmus
Reversed 0
HGVS NC_000014.8:g.60976648_60976652delAACCG
CLNSRC OMIM Allelic Variant
CLNACC RCV000169773.3,