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rs387907185

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907185(A;G)
Make rs387907185(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position149927759
GeneSF3B4
is asnp
is mentioned by
dbSNPrs387907185
ebirs387907185
HLIrs387907185
Exacrs387907185
Varsomers387907185
Maprs387907185
PheGenIrs387907185
hapmaprs387907185
1000 genomesrs387907185
hgdprs387907185
ensemblrs387907185
gopubmedrs387907185
geneviewrs387907185
scholarrs387907185
googlers387907185
pharmgkbrs387907185
gwascentralrs387907185
openSNPrs387907185
23andMers387907185
23andMe allrs387907185
SNP Nexus

SNPshotrs387907185
SNPdbers387907185
MSV3drs387907185
GWAS Ctlgrs387907185
Max Magnitude0
ClinVar
Risk rs387907185(G;G)
Alt rs387907185(G;G)
Reference rs387907185(A;A)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149899651T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024344.2,