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rs1060502808

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs1060502808(-;-)
Make rs1060502808(-;CA)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position153693324
GeneSLC6A8
is asnp
is mentioned by
dbSNPrs1060502808
dbSNP (classic)rs1060502808
ClinGenrs1060502808
ebirs1060502808
HLIrs1060502808
Exacrs1060502808
Gnomadrs1060502808
Varsomers1060502808
LitVarrs1060502808
Maprs1060502808
PheGenIrs1060502808
Biobankrs1060502808
1000 genomesrs1060502808
hgdprs1060502808
ensemblrs1060502808
geneviewrs1060502808
scholarrs1060502808
googlers1060502808
pharmgkbrs1060502808
gwascentralrs1060502808
openSNPrs1060502808
23andMers1060502808
23andMe allrs1060502808
SNPshotrs1060502808
SNPdbers1060502808
MSV3drs1060502808
GWAS Ctlgrs1060502808
Max Magnitude0
ClinVar
Risk rs1060502808(-;-)
Alt rs1060502808(-;-)
Reference Rs1060502808(CA;CA)
Significance Pathogenic
Disease Creatine deficiency
Variation info
Gene SLC6A8
CLNDBN Creatine deficiency, X-linked
Reversed 0
HGVS NC_000023.10:g.152958779_152958780delCA
CLNSRC
CLNACC RCV000472365.1,