rs113994153

Orientation

plus

Stabilized

plus

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

Make rs113994153(C;T)

Make rs113994153(T;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75521817

Gene

TSEN54

is a	snp
is	mentioned by
dbSNP	rs113994153
dbSNP (classic)	rs113994153
ClinGen	rs113994153
ebi	rs113994153
HLI	rs113994153
Exac	rs113994153
Gnomad	rs113994153
Varsome	rs113994153
LitVar	rs113994153
Map	rs113994153
PheGenI	rs113994153
Biobank	rs113994153
1000 genomes	rs113994153
hgdp	rs113994153
ensembl	rs113994153
geneview	rs113994153
scholar	rs113994153
google	rs113994153
pharmgkb	rs113994153
gwascentral	rs113994153
openSNP	rs113994153
23andMe	rs113994153
SNPshot	rs113994153
SNPdbe	rs113994153
MSV3d	rs113994153
GWAS Ctlg	rs113994153

Max Magnitude

0

OMIM	608755
Desc
Variant	0003
Related	also

ClinVar
Risk	rs113994153(T;T)
Alt	rs113994153(T;T)
Reference	Rs113994153(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.73517898C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000002204.3,