rs747538224

Orientation

plus

Stabilized

plus

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

Make rs747538224(C;G)

Make rs747538224(G;G)

Reference

GRCh38.p7 38.3/149

Chromosome

16

Position

2496993

Gene

TBC1D24

is a	snp
is	mentioned by
dbSNP	rs747538224
dbSNP (classic)	rs747538224
ClinGen	rs747538224
ebi	rs747538224
HLI	rs747538224
Exac	rs747538224
Gnomad	rs747538224
Varsome	rs747538224
LitVar	rs747538224
Map	rs747538224
PheGenI	rs747538224
Biobank	rs747538224
1000 genomes	rs747538224
hgdp	rs747538224
ensembl	rs747538224
geneview	rs747538224
scholar	rs747538224
google	rs747538224
pharmgkb	rs747538224
gwascentral	rs747538224
openSNP	rs747538224
23andMe	rs747538224
SNPshot	rs747538224
SNPdbe	rs747538224
MSV3d	rs747538224
GWAS Ctlg	rs747538224

Max Magnitude

0

ClinVar
Risk	rs747538224(G;G)
Alt	rs747538224(G;G)
Reference	Rs747538224(C;C)
Significance	Pathogenic
Disease	not specified not provided Caused by mutation in the TBC1 domain family Deafness Epileptic encephalopathy
Variation	info
Gene	TBC1D24
CLNDBN	not specified not provided Caused by mutation in the TBC1 domain family, member 24 Deafness, autosomal dominant 65 Epileptic encephalopathy, early infantile, 1
Reversed	0
HGVS	NC_000016.9:g.2546994C>G
CLNSRC
CLNACC	RCV000189692.2, RCV000254691.2, RCV000469036.1,