rs36027220

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs36027220(C;C)

Make rs36027220(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

13

Position

37009283

Gene	EXOSC8, SUPT20H

is a	snp
is	mentioned by
dbSNP	rs36027220
dbSNP (classic)	rs36027220
ClinGen	rs36027220
ebi	rs36027220
HLI	rs36027220
Exac	rs36027220
Gnomad	rs36027220
Varsome	rs36027220
LitVar	rs36027220
Map	rs36027220
PheGenI	rs36027220
Biobank	rs36027220
1000 genomes	rs36027220
hgdp	rs36027220
ensembl	rs36027220
geneview	rs36027220
scholar	rs36027220
google	rs36027220
pharmgkb	rs36027220
gwascentral	rs36027220
openSNP	rs36027220
23andMe	rs36027220
SNPshot	rs36027220
SNPdbe	rs36027220
MSV3d	rs36027220
GWAS Ctlg	rs36027220

Max Magnitude

0

ClinVar
Risk	rs36027220(C;C)
Alt	rs36027220(C;C)
Reference	Rs36027220(G;G)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia not provided
Variation	info
Gene	SUPT20H EXOSC8
CLNDBN	Pontocerebellar hypoplasia, type 1c not provided
Reversed	0
HGVS	NC_000013.10:g.37583420G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000144941.3, RCV000418794.1,