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

rs869312863

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312863(C;T)
Make rs869312863(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position162522504
GeneUHMK1
is asnp
is mentioned by
dbSNPrs869312863
ebirs869312863
HLIrs869312863
Exacrs869312863
Varsomers869312863
Maprs869312863
PheGenIrs869312863
hapmaprs869312863
1000 genomesrs869312863
hgdprs869312863
ensemblrs869312863
gopubmedrs869312863
geneviewrs869312863
scholarrs869312863
googlers869312863
pharmgkbrs869312863
gwascentralrs869312863
openSNPrs869312863
23andMers869312863
23andMe allrs869312863
SNP Nexus

SNPshotrs869312863
SNPdbers869312863
MSV3drs869312863
GWAS Ctlgrs869312863
Max Magnitude0
ClinVar
Risk rs869312863(T;T)
Alt rs869312863(T;T)
Reference rs869312863(C;C)
Significance Probable-Pathogenic
Disease Cerebral visual impairment and intellectual disability
Variation info
Gene UHMK1
CLNDBN Cerebral visual impairment and intellectual disability
Reversed 0
HGVS NC_000001.10:g.162492294C>T
CLNSRC
CLNACC RCV000210385.1,