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rs121434514

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434514(C;T)
Make rs121434514(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position68989100
GeneKIAA1279
is asnp
is mentioned by
dbSNPrs121434514
ebirs121434514
HLIrs121434514
Exacrs121434514
Varsomers121434514
Maprs121434514
PheGenIrs121434514
hapmaprs121434514
1000 genomesrs121434514
hgdprs121434514
ensemblrs121434514
gopubmedrs121434514
geneviewrs121434514
scholarrs121434514
googlers121434514
pharmgkbrs121434514
gwascentralrs121434514
openSNPrs121434514
23andMers121434514
23andMe allrs121434514
SNP Nexus

SNPshotrs121434514
SNPdbers121434514
MSV3drs121434514
GWAS Ctlgrs121434514
Max Magnitude0
OMIM609367
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434514(T;T)
Alt rs121434514(T;T)
Reference rs121434514(C;C)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene KIAA1279
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000010.10:g.70748856C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001803.3,