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rs387907187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907187(-;-)
Make rs387907187(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position149923670
GeneSF3B4
is asnp
is mentioned by
dbSNPrs387907187
ebirs387907187
HLIrs387907187
Exacrs387907187
Varsomers387907187
Maprs387907187
PheGenIrs387907187
hapmaprs387907187
1000 genomesrs387907187
hgdprs387907187
ensemblrs387907187
gopubmedrs387907187
geneviewrs387907187
scholarrs387907187
googlers387907187
pharmgkbrs387907187
gwascentralrs387907187
openSNPrs387907187
23andMers387907187
23andMe allrs387907187
SNP Nexus

SNPshotrs387907187
SNPdbers387907187
MSV3drs387907187
GWAS Ctlgrs387907187
Max Magnitude0
ClinVar
Risk rs387907187(;)
Alt rs387907187(;)
Reference rs387907187(C;C)
Significance Pathogenic
Disease Nager syndrome
Variation info
Gene SF3B4
CLNDBN Nager syndrome
Reversed 1
HGVS NC_000001.10:g.149895562delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000024346.4,