rs766034355

Orientation

plus

Stabilized

plus

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

Make rs766034355(C;T)

Make rs766034355(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

4

Position

122938134

Gene

SPATA5

is a	snp
is	mentioned by
dbSNP	rs766034355
dbSNP (classic)	rs766034355
ClinGen	rs766034355
ebi	rs766034355
HLI	rs766034355
Exac	rs766034355
Gnomad	rs766034355
Varsome	rs766034355
LitVar	rs766034355
Map	rs766034355
PheGenI	rs766034355
Biobank	rs766034355
1000 genomes	rs766034355
hgdp	rs766034355
ensembl	rs766034355
geneview	rs766034355
scholar	rs766034355
google	rs766034355
pharmgkb	rs766034355
gwascentral	rs766034355
openSNP	rs766034355
23andMe	rs766034355
SNPshot	rs766034355
SNPdbe	rs766034355
MSV3d	rs766034355
GWAS Ctlg	rs766034355

Max Magnitude

0

ClinVar
Risk	rs766034355(T;T)
Alt	rs766034355(T;T)
Reference	Rs766034355(C;C)
Significance	Pathogenic
Disease	Epilepsy
Variation	info
Gene	SPATA5
CLNDBN	Epilepsy, hearing loss, and mental retardation syndrome
Reversed	0
HGVS	NC_000004.11:g.123859289C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000193200.2,