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rs1060505023

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060505023(C;T)
Make rs1060505023(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position98148848
GenePOP1
is asnp
is mentioned by
dbSNPrs1060505023
dbSNP (old)rs1060505023
ClinGenrs1060505023
ebirs1060505023
HLIrs1060505023
Exacrs1060505023
Gnomadrs1060505023
Varsomers1060505023
Maprs1060505023
PheGenIrs1060505023
Biobankrs1060505023
1000 genomesrs1060505023
hgdprs1060505023
ensemblrs1060505023
gopubmedrs1060505023
geneviewrs1060505023
scholarrs1060505023
googlers1060505023
pharmgkbrs1060505023
gwascentralrs1060505023
openSNPrs1060505023
23andMers1060505023
23andMe allrs1060505023
SNPshotrs1060505023
SNPdbers1060505023
MSV3drs1060505023
GWAS Ctlgrs1060505023
Max Magnitude0
ClinVar
Risk rs1060505023(T;T)
Alt rs1060505023(T;T)
Reference Rs1060505023(C;C)
Significance Pathogenic
Disease Anauxetic dysplasia 2
Variation info
Gene POP1
CLNDBN Anauxetic dysplasia 2
Reversed 0
HGVS NC_000008.10:g.99161076C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000477695.1,