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rs387907186

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs387907186(-;-)
Make rs387907186(-;C)
Make rs387907186(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position149923669
GeneSF3B4
is asnp
is mentioned by
dbSNPrs387907186
ebirs387907186
HLIrs387907186
Exacrs387907186
Varsomers387907186
Maprs387907186
PheGenIrs387907186
hapmaprs387907186
1000 genomesrs387907186
hgdprs387907186
ensemblrs387907186
gopubmedrs387907186
geneviewrs387907186
scholarrs387907186
googlers387907186
pharmgkbrs387907186
gwascentralrs387907186
openSNPrs387907186
23andMers387907186
23andMe allrs387907186
SNP Nexus

SNPshotrs387907186
SNPdbers387907186
MSV3drs387907186
GWAS Ctlgrs387907186
Max Magnitude0
ClinVar
Risk rs387907186(C;C)
Alt rs387907186(C;C)
Reference rs387907186(;)
Significance Pathogenic
Disease Nager syndrome Inborn genetic diseases
Variation info
Gene SF3B4
CLNDBN Nager syndrome Inborn genetic diseases
Reversed 1
HGVS NC_000001.10:g.149895562dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024345.2, RCV000190680.1,