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

rs1057524874

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common/normal
(-;GA) 6.3 Macrocephaly/autism syndrome
Make rs1057524874(GA;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position87864514
GeneKLLN, PTEN
is asnp
is mentioned by
dbSNPrs1057524874
dbSNP (old)rs1057524874
ClinGenrs1057524874
ebirs1057524874
HLIrs1057524874
Exacrs1057524874
Gnomadrs1057524874
Varsomers1057524874
Maprs1057524874
PheGenIrs1057524874
Biobankrs1057524874
1000 genomesrs1057524874
hgdprs1057524874
ensemblrs1057524874
gopubmedrs1057524874
geneviewrs1057524874
scholarrs1057524874
googlers1057524874
pharmgkbrs1057524874
gwascentralrs1057524874
openSNPrs1057524874
23andMers1057524874
23andMe allrs1057524874
SNPshotrs1057524874
SNPdbers1057524874
MSV3drs1057524874
GWAS Ctlgrs1057524874
Max Magnitude6.3
ClinVar
Risk rs1057524874(GA;GA)
Alt rs1057524874(GA;GA)
Reference Rs1057524874(-;-)
Significance Pathogenic
Disease Macrocephaly/autism syndrome
Variation info
Gene PTEN KLLN
CLNDBN Macrocephaly/autism syndrome
Reversed 0
HGVS NC_000010.10:g.89624270_89624271dupGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000445351.1,