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rs1060501181

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060501181(C;T)
Make rs1060501181(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position38297332
GeneRPGR
is asnp
is mentioned by
dbSNPrs1060501181
dbSNP (old)rs1060501181
ClinGenrs1060501181
ebirs1060501181
HLIrs1060501181
Exacrs1060501181
Gnomadrs1060501181
Varsomers1060501181
Maprs1060501181
PheGenIrs1060501181
Biobankrs1060501181
1000 genomesrs1060501181
hgdprs1060501181
ensemblrs1060501181
gopubmedrs1060501181
geneviewrs1060501181
scholarrs1060501181
googlers1060501181
pharmgkbrs1060501181
gwascentralrs1060501181
openSNPrs1060501181
23andMers1060501181
23andMe allrs1060501181
SNPshotrs1060501181
SNPdbers1060501181
MSV3drs1060501181
GWAS Ctlgrs1060501181
Max Magnitude0
ClinVar
Risk rs1060501181(T;T)
Alt rs1060501181(T;T)
Reference Rs1060501181(C;C)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene RPGR
CLNDBN Primary ciliary dyskinesia
Reversed 1
HGVS NC_000023.10:g.38156585G>A
CLNSRC
CLNACC RCV000473079.1,