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rs121909352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909352(A;A)
Make rs121909352(A;C)
ReferenceGRCh38 38.1/141
Chromosome8
Position96145185
GeneGDF6
is asnp
is mentioned by
dbSNPrs121909352
ebirs121909352
HLIrs121909352
Exacrs121909352
Varsomers121909352
Maprs121909352
PheGenIrs121909352
hapmaprs121909352
1000 genomesrs121909352
hgdprs121909352
ensemblrs121909352
gopubmedrs121909352
geneviewrs121909352
scholarrs121909352
googlers121909352
pharmgkbrs121909352
gwascentralrs121909352
openSNPrs121909352
23andMers121909352
23andMe allrs121909352
SNP Nexus

SNPshotrs121909352
SNPdbers121909352
MSV3drs121909352
GWAS Ctlgrs121909352
Max Magnitude0
OMIM601147
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909352(A;A)
Alt rs121909352(A;A)
Reference rs121909352(C;C)
Significance Pathogenic
Disease Klippel-Feil syndrome 1 Microphthalmia Leber congenital amaurosis 17
Variation info
Gene GDF6
CLNDBN Klippel-Feil syndrome 1, autosomal dominant Microphthalmia, isolated 4 Leber congenital amaurosis 17
Reversed 1
HGVS NC_000008.10:g.97157413G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008876.4, RCV000008877.4, RCV000054424.4,