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rs397515324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515324(C;T)
Make rs397515324(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position149923922
GeneSF3B4
is asnp
is mentioned by
dbSNPrs397515324
dbSNP (classic)rs397515324
ClinGenrs397515324
ebirs397515324
HLIrs397515324
Exacrs397515324
Gnomadrs397515324
Varsomers397515324
LitVarrs397515324
Maprs397515324
PheGenIrs397515324
Biobankrs397515324
1000 genomesrs397515324
hgdprs397515324
ensemblrs397515324
geneviewrs397515324
scholarrs397515324
googlers397515324
pharmgkbrs397515324
gwascentralrs397515324
openSNPrs397515324
23andMers397515324
SNPshotrs397515324
SNPdbers397515324
MSV3drs397515324
GWAS Ctlgrs397515324
Max Magnitude0
ClinVar
Risk rs397515324(T;T)
Alt rs397515324(T;T)
Reference Rs397515324(C;C)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149895814G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000055627.3,