rs746860249

Orientation

plus

Stabilized

plus

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

Make rs746860249(-;-)

Make rs746860249(-;T)

Reference

GRCh38.p2 38.2/147

Chromosome

4

Position

106235348

Gene

TBCK

is a	snp
is	mentioned by
dbSNP	rs746860249
dbSNP (classic)	rs746860249
ClinGen	rs746860249
ebi	rs746860249
HLI	rs746860249
Exac	rs746860249
Gnomad	rs746860249
Varsome	rs746860249
LitVar	rs746860249
Map	rs746860249
PheGenI	rs746860249
Biobank	rs746860249
1000 genomes	rs746860249
hgdp	rs746860249
ensembl	rs746860249
geneview	rs746860249
scholar	rs746860249
google	rs746860249
pharmgkb	rs746860249
gwascentral	rs746860249
openSNP	rs746860249
23andMe	rs746860249
SNPshot	rs746860249
SNPdbe	rs746860249
MSV3d	rs746860249
GWAS Ctlg	rs746860249

Max Magnitude

0

ClinVar
Risk	rs746860249(-;-)
Alt	rs746860249(-;-)
Reference	Rs746860249(T;T)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	TBCK
CLNDBN	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Reversed	0
HGVS	NC_000004.11:g.107156505delT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000210867.2,