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rs1060502202

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060502202(A;A)
Make rs1060502202(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position74301057
GeneDNAI2
is asnp
is mentioned by
dbSNPrs1060502202
dbSNP (classic)rs1060502202
ClinGenrs1060502202
ebirs1060502202
HLIrs1060502202
Exacrs1060502202
Gnomadrs1060502202
Varsomers1060502202
LitVarrs1060502202
Maprs1060502202
PheGenIrs1060502202
Biobankrs1060502202
1000 genomesrs1060502202
hgdprs1060502202
ensemblrs1060502202
geneviewrs1060502202
scholarrs1060502202
googlers1060502202
pharmgkbrs1060502202
gwascentralrs1060502202
openSNPrs1060502202
23andMers1060502202
SNPshotrs1060502202
SNPdbers1060502202
MSV3drs1060502202
GWAS Ctlgrs1060502202
Max Magnitude0
ClinVar
Risk rs1060502202(A;A)
Alt rs1060502202(A;A)
Reference Rs1060502202(G;G)
Significance Pathogenic
Disease Primary ciliary dyskinesia
Variation info
Gene DNAI2
CLNDBN Primary ciliary dyskinesia
Reversed 0
HGVS NC_000017.10:g.72297196G>A
CLNSRC
CLNACC RCV000474701.1,