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rs387907189

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907189(A;A)
Make rs387907189(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position56476680
GeneSRP72
is asnp
is mentioned by
dbSNPrs387907189
ebirs387907189
HLIrs387907189
Exacrs387907189
Varsomers387907189
Maprs387907189
PheGenIrs387907189
hapmaprs387907189
1000 genomesrs387907189
hgdprs387907189
ensemblrs387907189
gopubmedrs387907189
geneviewrs387907189
scholarrs387907189
googlers387907189
pharmgkbrs387907189
gwascentralrs387907189
openSNPrs387907189
23andMers387907189
23andMe allrs387907189
SNP Nexus

SNPshotrs387907189
SNPdbers387907189
MSV3drs387907189
GWAS Ctlgrs387907189
Max Magnitude0
ClinVar
Risk rs387907189(A;A)
Alt rs387907189(A;A)
Reference rs387907189(G;G)
Significance Pathogenic
Disease Bone marrow failure syndrome 1
Variation info
Gene SRP72
CLNDBN Bone marrow failure syndrome 1
Reversed 0
HGVS NC_000004.11:g.57342846G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024353.3,