Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434515(G;T)
Make rs121434515(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position68989082
GeneKIAA1279
is asnp
is mentioned by
dbSNPrs121434515
ebirs121434515
HLIrs121434515
Exacrs121434515
Varsomers121434515
Maprs121434515
PheGenIrs121434515
hapmaprs121434515
1000 genomesrs121434515
hgdprs121434515
ensemblrs121434515
gopubmedrs121434515
geneviewrs121434515
scholarrs121434515
googlers121434515
pharmgkbrs121434515
gwascentralrs121434515
openSNPrs121434515
23andMers121434515
23andMe allrs121434515
SNP Nexus

SNPshotrs121434515
SNPdbers121434515
MSV3drs121434515
GWAS Ctlgrs121434515
Max Magnitude0
OMIM609367
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434515(T;T)
Alt rs121434515(T;T)
Reference rs121434515(G;G)
Significance Pathogenic
Disease Shprintzen-Goldberg syndrome
Variation info
Gene KIAA1279
CLNDBN Shprintzen-Goldberg syndrome
Reversed 0
HGVS NC_000010.10:g.70748838G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001804.3,