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rs869312827

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312827(C;T)
Make rs869312827(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position64406392
GeneTRIP4
is asnp
is mentioned by
dbSNPrs869312827
ebirs869312827
HLIrs869312827
Exacrs869312827
Varsomers869312827
Maprs869312827
PheGenIrs869312827
hapmaprs869312827
1000 genomesrs869312827
hgdprs869312827
ensemblrs869312827
gopubmedrs869312827
geneviewrs869312827
scholarrs869312827
googlers869312827
pharmgkbrs869312827
gwascentralrs869312827
openSNPrs869312827
23andMers869312827
23andMe allrs869312827
SNP Nexus

SNPshotrs869312827
SNPdbers869312827
MSV3drs869312827
GWAS Ctlgrs869312827
Max Magnitude0
ClinVar
Risk rs869312827(T;T)
Alt rs869312827(T;T)
Reference rs869312827(C;C)
Significance Pathogenic
Disease Spinal muscular atrophy with congenital bone fractures 1
Variation info
Gene TRIP4
CLNDBN Spinal muscular atrophy with congenital bone fractures 1
Reversed 0
HGVS NC_000015.9:g.64698591C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210281.2,