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rs1060503104

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060503104(A;A)
Make rs1060503104(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position100162421
GeneSPAG1
is asnp
is mentioned by
dbSNPrs1060503104
dbSNP (classic)rs1060503104
ClinGenrs1060503104
ebirs1060503104
HLIrs1060503104
Exacrs1060503104
Gnomadrs1060503104
Varsomers1060503104
LitVarrs1060503104
Maprs1060503104
PheGenIrs1060503104
Biobankrs1060503104
1000 genomesrs1060503104
hgdprs1060503104
ensemblrs1060503104
geneviewrs1060503104
scholarrs1060503104
googlers1060503104
pharmgkbrs1060503104
gwascentralrs1060503104
openSNPrs1060503104
23andMers1060503104
SNPshotrs1060503104
SNPdbers1060503104
MSV3drs1060503104
GWAS Ctlgrs1060503104
Max Magnitude0
ClinVar
Risk rs1060503104(A;A)
Alt rs1060503104(A;A)
Reference Rs1060503104(G;G)
Significance Probable-Pathogenic
Disease Ciliary dyskinesia
Variation info
Gene SPAG1
CLNDBN Ciliary dyskinesia, primary, 28
Reversed 0
HGVS NC_000008.10:g.101174649G>A
CLNSRC
CLNACC RCV000468769.1,