rs113994151

Orientation

plus

Stabilized

plus

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

Make rs113994151(C;C)

Make rs113994151(C;T)

Reference

GRCh38 38.1/141

Chromosome

17

Position

75517064

Gene	CASKIN2, TSEN54

is a	snp
is	mentioned by
dbSNP	rs113994151
dbSNP (classic)	rs113994151
ClinGen	rs113994151
ebi	rs113994151
HLI	rs113994151
Exac	rs113994151
Gnomad	rs113994151
Varsome	rs113994151
LitVar	rs113994151
Map	rs113994151
PheGenI	rs113994151
Biobank	rs113994151
1000 genomes	rs113994151
hgdp	rs113994151
ensembl	rs113994151
geneview	rs113994151
scholar	rs113994151
google	rs113994151
pharmgkb	rs113994151
gwascentral	rs113994151
openSNP	rs113994151
23andMe	rs113994151
SNPshot	rs113994151
SNPdbe	rs113994151
MSV3d	rs113994151
GWAS Ctlg	rs113994151

Max Magnitude

0

OMIM	608755
Desc
Variant	0002
Related	also

ClinVar
Risk	rs113994151(C;C)
Alt	rs113994151(C;C)
Reference	Rs113994151(T;T)
Significance	Pathogenic
Disease	Pontocerebellar hypoplasia type 4
Variation	info
Gene	TSEN54 CASKIN2
CLNDBN	Pontocerebellar hypoplasia type 4
Reversed	0
HGVS	NC_000017.10:g.73513145T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002203.3, RCV000031854.1,