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rs797045412

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045412(C;T)
Make rs797045412(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position92718565
GeneBICD2
is asnp
is mentioned by
dbSNPrs797045412
ebirs797045412
HLIrs797045412
Exacrs797045412
Varsomers797045412
Maprs797045412
PheGenIrs797045412
hapmaprs797045412
1000 genomesrs797045412
hgdprs797045412
ensemblrs797045412
gopubmedrs797045412
geneviewrs797045412
scholarrs797045412
googlers797045412
pharmgkbrs797045412
gwascentralrs797045412
openSNPrs797045412
23andMers797045412
23andMe allrs797045412
SNP Nexus

SNPshotrs797045412
SNPdbers797045412
MSV3drs797045412
GWAS Ctlgrs797045412
Max Magnitude0
ClinVar
Risk rs797045412(T;T)
Alt rs797045412(T;T)
Reference rs797045412(C;C)
Significance Probable-Pathogenic
Disease Spinal muscular atrophy
Variation info
Gene BICD2
CLNDBN Spinal muscular atrophy, lower extremity-predominant, 2, AD
Reversed 1
HGVS NC_000009.11:g.95480847G>A
CLNSRC
CLNACC RCV000195105.1,