rs730882223

Orientation

plus

Stabilized

plus

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

Make rs730882223(G;G)

Make rs730882223(G;T)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

184054736

Gene

TSEN15

is a	snp
is	mentioned by
dbSNP	rs730882223
dbSNP (classic)	rs730882223
ClinGen	rs730882223
ebi	rs730882223
HLI	rs730882223
Exac	rs730882223
Gnomad	rs730882223
Varsome	rs730882223
LitVar	rs730882223
Map	rs730882223
PheGenI	rs730882223
Biobank	rs730882223
1000 genomes	rs730882223
hgdp	rs730882223
ensembl	rs730882223
geneview	rs730882223
scholar	rs730882223
google	rs730882223
pharmgkb	rs730882223
gwascentral	rs730882223
openSNP	rs730882223
23andMe	rs730882223
SNPshot	rs730882223
SNPdbe	rs730882223
MSV3d	rs730882223
GWAS Ctlg	rs730882223

Max Magnitude

0

ClinVar
Risk	rs730882223(G;G)
Alt	rs730882223(G;G)
Reference	Rs730882223(T;T)
Significance	Pathogenic
Disease	Global developmental delay Primary microcephaly Seizures Pontocerebellar hypoplasia
Variation	info
Gene	TSEN15
CLNDBN	Global developmental delay Primary microcephaly Seizures Pontocerebellar hypoplasia, type 2f
Reversed	0
HGVS	NC_000001.10:g.184023870T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000162135.1, RCV000234989.2,