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rs113994150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113994150(C;T)
Make rs113994150(T;T)
ReferenceGRCh37.p2 37.2/134
Chromosome19
Position54695387
GeneMBOAT7, TSEN34
is asnp
is mentioned by
dbSNPrs113994150
ebirs113994150
HLIrs113994150
Exacrs113994150
Varsomers113994150
Maprs113994150
PheGenIrs113994150
hapmaprs113994150
1000 genomesrs113994150
hgdprs113994150
ensemblrs113994150
gopubmedrs113994150
geneviewrs113994150
scholarrs113994150
googlers113994150
pharmgkbrs113994150
gwascentralrs113994150
openSNPrs113994150
23andMers113994150
23andMe allrs113994150
SNP Nexus

SNPshotrs113994150
SNPdbers113994150
MSV3drs113994150
GWAS Ctlgrs113994150
Max Magnitude0
OMIM608754
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994150(T;T)
Alt rs113994150(T;T)
Reference rs113994150(C;C)
Significance Pathogenic
Disease Pontocerebellar hypoplasia type 2C
Variation info
Gene MBOAT7 TSEN34
CLNDBN Pontocerebellar hypoplasia type 2C
Reversed 0
HGVS NC_000019.9:g.54695387C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002206.3,