rs730880028

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(T;T)	3	Likely miscall if from Ancestry data; otherwise, ALS mutation

Make rs730880028(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219251056

Gene

TUBA4A

is a	snp
is	mentioned by
dbSNP	rs730880028
dbSNP (classic)	rs730880028
ClinGen	rs730880028
ebi	rs730880028
HLI	rs730880028
Exac	rs730880028
Gnomad	rs730880028
Varsome	rs730880028
LitVar	rs730880028
Map	rs730880028
PheGenI	rs730880028
Biobank	rs730880028
1000 genomes	rs730880028
hgdp	rs730880028
ensembl	rs730880028
geneview	rs730880028
scholar	rs730880028
google	rs730880028
pharmgkb	rs730880028
gwascentral	rs730880028
openSNP	rs730880028
23andMe	rs730880028
SNPshot	rs730880028
SNPdbe	rs730880028
MSV3d	rs730880028
GWAS Ctlg	rs730880028

Max Magnitude

3

ClinVar
Risk	Rs730880028(T;T)
Alt	Rs730880028(T;T)
Reference	Rs730880028(C;C)
Significance	Pathogenic
Disease	Amyotrophic lateral sclerosis 22 with frontotemporal dementia
Variation	info
Gene	TUBA4A
CLNDBN	Amyotrophic lateral sclerosis 22 with frontotemporal dementia
Reversed	1
HGVS	NC_000002.11:g.220115778G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000157037.3,