rs113994149

Orientation

plus

Stabilized

plus

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

Make rs113994149(A;G)

Make rs113994149(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

12516627

Gene

TSEN2

is a	snp
is	mentioned by
dbSNP	rs113994149
dbSNP (classic)	rs113994149
ClinGen	rs113994149
ebi	rs113994149
HLI	rs113994149
Exac	rs113994149
Gnomad	rs113994149
Varsome	rs113994149
LitVar	rs113994149
Map	rs113994149
PheGenI	rs113994149
Biobank	rs113994149
1000 genomes	rs113994149
hgdp	rs113994149
ensembl	rs113994149
geneview	rs113994149
scholar	rs113994149
google	rs113994149
pharmgkb	rs113994149
gwascentral	rs113994149
openSNP	rs113994149
23andMe	rs113994149
SNPshot	rs113994149
SNPdbe	rs113994149
MSV3d	rs113994149
GWAS Ctlg	rs113994149

GMAF

0.0009183

Max Magnitude

0

OMIM	608753
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000002207.4,