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rs797045965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045965(-;-)
Make rs797045965(-;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position74421893
GeneLOC105373252, SLC16A2
is asnp
is mentioned by
dbSNPrs797045965
dbSNP (old)rs797045965
ClinGenrs797045965
ebirs797045965
HLIrs797045965
Exacrs797045965
Gnomadrs797045965
Varsomers797045965
Maprs797045965
PheGenIrs797045965
Biobankrs797045965
1000 genomesrs797045965
hgdprs797045965
ensemblrs797045965
gopubmedrs797045965
geneviewrs797045965
scholarrs797045965
googlers797045965
pharmgkbrs797045965
gwascentralrs797045965
openSNPrs797045965
23andMers797045965
23andMe allrs797045965
SNP Nexus

SNPshotrs797045965
SNPdbers797045965
MSV3drs797045965
GWAS Ctlgrs797045965
Max Magnitude0
ClinVar
Risk rs797045965(-;-)
Alt rs797045965(-;-)
Reference Rs797045965(C;C)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73641728delC
CLNSRC
CLNACC RCV000192994.1,