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rs1057518246

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518246(-;CACAT)
Make rs1057518246(CACAT;CACAT)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position22227573
GenePHEX, PTCHD1-AS
is asnp
is mentioned by
dbSNPrs1057518246
dbSNP (classic)rs1057518246
ClinGenrs1057518246
ebirs1057518246
HLIrs1057518246
Exacrs1057518246
Gnomadrs1057518246
Varsomers1057518246
LitVarrs1057518246
Maprs1057518246
PheGenIrs1057518246
Biobankrs1057518246
1000 genomesrs1057518246
hgdprs1057518246
ensemblrs1057518246
geneviewrs1057518246
scholarrs1057518246
googlers1057518246
pharmgkbrs1057518246
gwascentralrs1057518246
openSNPrs1057518246
23andMers1057518246
SNPshotrs1057518246
SNPdbers1057518246
MSV3drs1057518246
GWAS Ctlgrs1057518246
Max Magnitude0
ClinVar
Risk rs1057518246(CATCA;CATCA)
Alt rs1057518246(CATCA;CATCA)
Reference Rs1057518246(-;-)
Significance Pathogenic
Disease not provided
Variation info
Gene PTCHD1-AS PHEX
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.22245686_22245690dupCACAT
CLNSRC
CLNACC RCV000413688.1,