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rs1057516265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516265(A;G)
Make rs1057516265(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position86047532
GeneCHM
is asnp
is mentioned by
dbSNPrs1057516265
dbSNP (old)rs1057516265
ClinGenrs1057516265
ebirs1057516265
HLIrs1057516265
Exacrs1057516265
Gnomadrs1057516265
Varsomers1057516265
Maprs1057516265
PheGenIrs1057516265
Biobankrs1057516265
1000 genomesrs1057516265
hgdprs1057516265
ensemblrs1057516265
gopubmedrs1057516265
geneviewrs1057516265
scholarrs1057516265
googlers1057516265
pharmgkbrs1057516265
gwascentralrs1057516265
openSNPrs1057516265
23andMers1057516265
23andMe allrs1057516265
SNPshotrs1057516265
SNPdbers1057516265
MSV3drs1057516265
GWAS Ctlgrs1057516265
Max Magnitude0
ClinVar
Risk rs1057516265(G;G)
Alt rs1057516265(G;G)
Reference Rs1057516265(A;A)
Significance Probable-Pathogenic
Disease Choroideremia
Variation info
Gene CHM
CLNDBN Choroideremia
Reversed 1
HGVS NC_000023.10:g.85302536T>C
CLNSRC
CLNACC RCV000412301.1,