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

rs199470483

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs199470483(-;-)
Make rs199470483(-;CAAC)
Make rs199470483(CAAC;CAAC)
ReferenceGRCh38.p2 38.2/144
Chromosome10
Position75030197
GeneKAT6B, LOC105378361
is asnp
is mentioned by
dbSNPrs199470483
ebirs199470483
HLIrs199470483
Exacrs199470483
Varsomers199470483
Maprs199470483
PheGenIrs199470483
hapmaprs199470483
1000 genomesrs199470483
hgdprs199470483
ensemblrs199470483
gopubmedrs199470483
geneviewrs199470483
scholarrs199470483
googlers199470483
pharmgkbrs199470483
gwascentralrs199470483
openSNPrs199470483
23andMers199470483
23andMe allrs199470483
SNP Nexus

SNPshotrs199470483
SNPdbers199470483
MSV3drs199470483
GWAS Ctlgrs199470483
Max Magnitude0
ClinVar
Risk rs199470483(CCAA;CCAA)
Alt rs199470483(CCAA;CCAA)
Reference rs199470483(;)
Significance Pathogenic
Disease Young Simpson syndrome not provided
Variation info
Gene KAT6B
CLNDBN Young Simpson syndrome not provided
Reversed 0
HGVS NC_000010.10:g.76789952_76789955dupCAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000023483.6, RCV000128659.1,