rs878854271

Orientation

plus

Stabilized

plus

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

Make rs878854271(C;T)

Make rs878854271(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2496340

Gene

TBC1D24

is a	snp
is	mentioned by
dbSNP	rs878854271
dbSNP (classic)	rs878854271
ClinGen	rs878854271
ebi	rs878854271
HLI	rs878854271
Exac	rs878854271
Gnomad	rs878854271
Varsome	rs878854271
LitVar	rs878854271
Map	rs878854271
PheGenI	rs878854271
Biobank	rs878854271
1000 genomes	rs878854271
hgdp	rs878854271
ensembl	rs878854271
geneview	rs878854271
scholar	rs878854271
google	rs878854271
pharmgkb	rs878854271
gwascentral	rs878854271
openSNP	rs878854271
23andMe	rs878854271
SNPshot	rs878854271
SNPdbe	rs878854271
MSV3d	rs878854271
GWAS Ctlg	rs878854271

Max Magnitude

0

ClinVar
Risk	rs878854271(A;A) rs878854271(T;T)
Alt	rs878854271(A;A) rs878854271(T;T)
Reference	Rs878854271(C;C)
Significance	Probable-Pathogenic
Disease	not provided Caused by mutation in the TBC1 domain family Deafness Epileptic encephalopathy
Variation	info
Gene	TBC1D24
CLNDBN	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.2546341C>A; NC_000016.9:g.2546341C>T
CLNSRC
CLNACC	RCV000483724.1, RCV000230357.1,