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rs761865592

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs761865592(C;T)
Make rs761865592(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position64409617
GeneTRIP4
is asnp
is mentioned by
dbSNPrs761865592
ebirs761865592
HLIrs761865592
Exacrs761865592
Varsomers761865592
Maprs761865592
PheGenIrs761865592
hapmaprs761865592
1000 genomesrs761865592
hgdprs761865592
ensemblrs761865592
gopubmedrs761865592
geneviewrs761865592
scholarrs761865592
googlers761865592
pharmgkbrs761865592
gwascentralrs761865592
openSNPrs761865592
23andMers761865592
23andMe allrs761865592
SNP Nexus

SNPshotrs761865592
SNPdbers761865592
MSV3drs761865592
GWAS Ctlgrs761865592
Max Magnitude0
ClinVar
Risk rs761865592(T;T)
Alt rs761865592(T;T)
Reference rs761865592(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.64701816C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000210261.2,