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rs113994149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs113994149(A;G)
Make rs113994149(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position12516627
GeneTSEN2
is asnp
is mentioned by
dbSNPrs113994149
ebirs113994149
HLIrs113994149
Exacrs113994149
Varsomers113994149
Maprs113994149
PheGenIrs113994149
hapmaprs113994149
1000 genomesrs113994149
hgdprs113994149
ensemblrs113994149
gopubmedrs113994149
geneviewrs113994149
scholarrs113994149
googlers113994149
pharmgkbrs113994149
gwascentralrs113994149
openSNPrs113994149
23andMers113994149
23andMe allrs113994149
SNP Nexus

SNPshotrs113994149
SNPdbers113994149
MSV3drs113994149
GWAS Ctlgrs113994149
GMAF0.0009183
Max Magnitude0
OMIM608753
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994149(G;G)
Alt rs113994149(G;G)
Reference rs113994149(A;A)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2B
Variation info
Gene TSEN2
CLNDBN Pontocerebellar hypoplasia type 2B
Reversed 0
HGVS NC_000003.11:g.12558126A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002207.4,