rs397514713

Orientation

plus

Stabilized

plus

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

Make rs397514713(C;C)

Make rs397514713(C;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2496834

Gene

TBC1D24

is a	snp
is	mentioned by
dbSNP	rs397514713
dbSNP (classic)	rs397514713
ClinGen	rs397514713
ebi	rs397514713
HLI	rs397514713
Exac	rs397514713
Gnomad	rs397514713
Varsome	rs397514713
LitVar	rs397514713
Map	rs397514713
PheGenI	rs397514713
Biobank	rs397514713
1000 genomes	rs397514713
hgdp	rs397514713
ensembl	rs397514713
geneview	rs397514713
scholar	rs397514713
google	rs397514713
pharmgkb	rs397514713
gwascentral	rs397514713
openSNP	rs397514713
23andMe	rs397514713
SNPshot	rs397514713
SNPdbe	rs397514713
MSV3d	rs397514713
GWAS Ctlg	rs397514713

Max Magnitude

0

ClinVar
Risk	rs397514713(C;C)
Alt	rs397514713(C;C)
Reference	Rs397514713(T;T)
Significance	Pathogenic
Disease	Early infantile epileptic encephalopathy 16
Variation	info
Gene	TBC1D24
CLNDBN	Early infantile epileptic encephalopathy 16
Reversed	0
HGVS	NC_000016.9:g.2546835T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000050233.4,