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rs797045134

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs797045134(-;-)
Make rs797045134(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149927241
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045134
dbSNP (classic)rs797045134
ClinGenrs797045134
ebirs797045134
HLIrs797045134
Exacrs797045134
Gnomadrs797045134
Varsomers797045134
LitVarrs797045134
Maprs797045134
PheGenIrs797045134
Biobankrs797045134
1000 genomesrs797045134
hgdprs797045134
ensemblrs797045134
geneviewrs797045134
scholarrs797045134
googlers797045134
pharmgkbrs797045134
gwascentralrs797045134
openSNPrs797045134
23andMers797045134
SNPshotrs797045134
SNPdbers797045134
MSV3drs797045134
GWAS Ctlgrs797045134
Max Magnitude0
ClinVar
Risk rs797045134(-;-)
Alt rs797045134(-;-)
Reference Rs797045134(T;T)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149899133delA
CLNSRC
CLNACC RCV000190861.1,