rs113994154

Orientation

plus

Stabilized

plus

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

Make rs113994154(C;T)

Make rs113994154(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75522108

Gene

TSEN54

is a	snp
is	mentioned by
dbSNP	rs113994154
dbSNP (classic)	rs113994154
ClinGen	rs113994154
ebi	rs113994154
HLI	rs113994154
Exac	rs113994154
Gnomad	rs113994154
Varsome	rs113994154
LitVar	rs113994154
Map	rs113994154
PheGenI	rs113994154
Biobank	rs113994154
1000 genomes	rs113994154
hgdp	rs113994154
ensembl	rs113994154
geneview	rs113994154
scholar	rs113994154
google	rs113994154
pharmgkb	rs113994154
gwascentral	rs113994154
openSNP	rs113994154
23andMe	rs113994154
SNPshot	rs113994154
SNPdbe	rs113994154
MSV3d	rs113994154
GWAS Ctlg	rs113994154

Max Magnitude

0

OMIM	608755
Desc
Variant	0004
Related	also

ClinVar
Risk	rs113994154(T;T)
Alt	rs113994154(T;T)
Reference	Rs113994154(C;C)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 4
Variation	info
Gene	TSEN54
CLNDBN	Pontocerebellar hypoplasia type 4
Reversed	0
HGVS	NC_000017.10:g.73518189C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002205.2,