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rs797045128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045128(-;C)
Make rs797045128(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position149925921
GeneSF3B4
is asnp
is mentioned by
dbSNPrs797045128
dbSNP (classic)rs797045128
ClinGenrs797045128
ebirs797045128
HLIrs797045128
Exacrs797045128
Gnomadrs797045128
Varsomers797045128
LitVarrs797045128
Maprs797045128
PheGenIrs797045128
Biobankrs797045128
1000 genomesrs797045128
hgdprs797045128
ensemblrs797045128
geneviewrs797045128
scholarrs797045128
googlers797045128
pharmgkbrs797045128
gwascentralrs797045128
openSNPrs797045128
23andMers797045128
SNPshotrs797045128
SNPdbers797045128
MSV3drs797045128
GWAS Ctlgrs797045128
Max Magnitude0
ClinVar
Risk rs797045128(C;C)
Alt rs797045128(C;C)
Reference Rs797045128(-;-)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149897814dupG
CLNSRC
CLNACC RCV000190855.1,