Have questions? Visit https://www.reddit.com/r/SNPedia

rs36027220

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs36027220(C;C)
Make rs36027220(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome13
Position37009283
GeneEXOSC8, SUPT20H
is asnp
is mentioned by
dbSNPrs36027220
ebirs36027220
HLIrs36027220
Exacrs36027220
Varsomers36027220
Maprs36027220
PheGenIrs36027220
hapmaprs36027220
1000 genomesrs36027220
hgdprs36027220
ensemblrs36027220
gopubmedrs36027220
geneviewrs36027220
scholarrs36027220
googlers36027220
pharmgkbrs36027220
gwascentralrs36027220
openSNPrs36027220
23andMers36027220
23andMe allrs36027220
SNP Nexus

SNPshotrs36027220
SNPdbers36027220
MSV3drs36027220
GWAS Ctlgrs36027220
Max Magnitude0
ClinVar
Risk rs36027220(C;C)
Alt rs36027220(C;C)
Reference rs36027220(G;G)
Significance Pathogenic
Disease Pontocerebellar hypoplasia
Variation info
Gene SUPT20H EXOSC8
CLNDBN Pontocerebellar hypoplasia, type 1c
Reversed 0
HGVS NC_000013.10:g.37583420G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000144941.3,