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rs797045963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGTAATC;CTGTAATC) 0 common in clinvar
Make rs797045963(-;-)
Make rs797045963(-;GTAATCCT)
Make rs797045963(GTAATCCT;GTAATCCT)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position74531407
GeneSLC16A2
is asnp
is mentioned by
dbSNPrs797045963
dbSNP (old)rs797045963
ClinGenrs797045963
ebirs797045963
HLIrs797045963
Exacrs797045963
Gnomadrs797045963
Varsomers797045963
Maprs797045963
PheGenIrs797045963
Biobankrs797045963
1000 genomesrs797045963
hgdprs797045963
ensemblrs797045963
gopubmedrs797045963
geneviewrs797045963
scholarrs797045963
googlers797045963
pharmgkbrs797045963
gwascentralrs797045963
openSNPrs797045963
23andMers797045963
23andMe allrs797045963
SNP Nexus

SNPshotrs797045963
SNPdbers797045963
MSV3drs797045963
GWAS Ctlgrs797045963
Max Magnitude0
ClinVar
Risk rs797045963(-;-)
Alt rs797045963(-;-)
Reference Rs797045963(CTGTAATC;CTGTAATC)
Significance Pathogenic
Disease Allan-Herndon-Dudley syndrome
Variation info
Gene SLC16A2
CLNDBN Allan-Herndon-Dudley syndrome
Reversed 0
HGVS NC_000023.10:g.73751242_73751249delGTAATCCT
CLNSRC
CLNACC RCV000193930.1,