rs397514714

Orientation

plus

Stabilized

plus

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

Make rs397514714(A;A)

Make rs397514714(A;C)

Reference

GRCh38 38.1/141

Chromosome

16

Position

2496616

Gene

TBC1D24

is a	snp
is	mentioned by
dbSNP	rs397514714
dbSNP (classic)	rs397514714
ClinGen	rs397514714
ebi	rs397514714
HLI	rs397514714
Exac	rs397514714
Gnomad	rs397514714
Varsome	rs397514714
LitVar	rs397514714
Map	rs397514714
PheGenI	rs397514714
Biobank	rs397514714
1000 genomes	rs397514714
hgdp	rs397514714
ensembl	rs397514714
geneview	rs397514714
scholar	rs397514714
google	rs397514714
pharmgkb	rs397514714
gwascentral	rs397514714
openSNP	rs397514714
23andMe	rs397514714
SNPshot	rs397514714
SNPdbe	rs397514714
MSV3d	rs397514714
GWAS Ctlg	rs397514714

Max Magnitude

0

ClinVar
Risk	rs397514714(A;A)
Alt	rs397514714(A;A)
Reference	Rs397514714(C;C)
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.2546617C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000050234.5,