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

rs774005569

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs774005569(A;A)
Make rs774005569(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position125893928
GeneHYLS1, PUS3
is asnp
is mentioned by
dbSNPrs774005569
ebirs774005569
HLIrs774005569
Exacrs774005569
Varsomers774005569
Maprs774005569
PheGenIrs774005569
hapmaprs774005569
1000 genomesrs774005569
hgdprs774005569
ensemblrs774005569
gopubmedrs774005569
geneviewrs774005569
scholarrs774005569
googlers774005569
pharmgkbrs774005569
gwascentralrs774005569
openSNPrs774005569
23andMers774005569
23andMe allrs774005569
SNP Nexus

SNPshotrs774005569
SNPdbers774005569
MSV3drs774005569
GWAS Ctlgrs774005569
Max Magnitude0
ClinVar
Risk rs774005569(A;A)
Alt rs774005569(A;A)
Reference rs774005569(G;G)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene PUS3 HYLS1
CLNDBN Mental retardation, autosomal recessive 55
Reversed 0
HGVS NC_000011.9:g.125763823G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239585.1,