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rs797044922

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGTTG;TGTTG) 0 common in clinvar
Make rs797044922(GAA;GAA)
Make rs797044922(GAA;TGTTG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position23393353
GenePTCHD1
is asnp
is mentioned by
dbSNPrs797044922
dbSNP (old)rs797044922
ClinGenrs797044922
ebirs797044922
HLIrs797044922
Exacrs797044922
Gnomadrs797044922
Varsomers797044922
Maprs797044922
PheGenIrs797044922
Biobankrs797044922
1000 genomesrs797044922
hgdprs797044922
ensemblrs797044922
gopubmedrs797044922
geneviewrs797044922
scholarrs797044922
googlers797044922
pharmgkbrs797044922
gwascentralrs797044922
openSNPrs797044922
23andMers797044922
23andMe allrs797044922
SNP Nexus

SNPshotrs797044922
SNPdbers797044922
MSV3drs797044922
GWAS Ctlgrs797044922
Max Magnitude0
ClinVar
Risk rs797044922(GAA;GAA)
Alt rs797044922(GAA;GAA)
Reference Rs797044922(TGTTG;TGTTG)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene PTCHD1
CLNDBN Inborn genetic diseases
Reversed 0
HGVS NC_000023.10:g.23411470_23411474delTGTTGinsGAA
CLNSRC
CLNACC RCV000190759.1,