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rs797045127

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045127(-;GGGTATG)
Make rs797045127(GGGTATG;GGGTATG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149925912
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045127
dbSNP (classic)rs797045127
ClinGenrs797045127
ebirs797045127
HLIrs797045127
Exacrs797045127
Gnomadrs797045127
Varsomers797045127
LitVarrs797045127
Maprs797045127
PheGenIrs797045127
Biobankrs797045127
1000 genomesrs797045127
hgdprs797045127
ensemblrs797045127
geneviewrs797045127
scholarrs797045127
googlers797045127
pharmgkbrs797045127
gwascentralrs797045127
openSNPrs797045127
23andMers797045127
SNPshotrs797045127
SNPdbers797045127
MSV3drs797045127
GWAS Ctlgrs797045127
Max Magnitude0
ClinVar
Risk rs797045127(GGGTATG;GGGTATG)
Alt rs797045127(GGGTATG;GGGTATG)
Reference Rs797045127(-;-)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897804_149897805insCATACCC
CLNSRC
CLNACC RCV000190854.1,