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

rs1057517808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAC;AAAC) 0 common in clinvar
Make rs1057517808(-;-)
Make rs1057517808(-;AACA)
Make rs1057517808(AACA;AACA)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position23393487
GenePTCHD1
is asnp
is mentioned by
dbSNPrs1057517808
dbSNP (classic)rs1057517808
ClinGenrs1057517808
ebirs1057517808
HLIrs1057517808
Exacrs1057517808
Gnomadrs1057517808
Varsomers1057517808
LitVarrs1057517808
Maprs1057517808
PheGenIrs1057517808
Biobankrs1057517808
1000 genomesrs1057517808
hgdprs1057517808
ensemblrs1057517808
geneviewrs1057517808
scholarrs1057517808
googlers1057517808
pharmgkbrs1057517808
gwascentralrs1057517808
openSNPrs1057517808
23andMers1057517808
23andMe allrs1057517808
SNPshotrs1057517808
SNPdbers1057517808
MSV3drs1057517808
GWAS Ctlgrs1057517808
Max Magnitude0
ClinVar
Risk rs1057517808(-;-)
Alt rs1057517808(-;-)
Reference Rs1057517808(AAAC;AAAC)
Significance Pathogenic
Disease not provided
Variation info
Gene PTCHD1
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.23411604_23411607delAACA
CLNSRC
CLNACC RCV000413638.1,