rs730880029

Orientation

minus

Stabilized

minus

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

Make rs730880029(A;C)

Make rs730880029(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

2

Position

219251266

Gene	TUBA4A, TUBA4B

is a	snp
is	mentioned by
dbSNP	rs730880029
dbSNP (classic)	rs730880029
ClinGen	rs730880029
ebi	rs730880029
HLI	rs730880029
Exac	rs730880029
Gnomad	rs730880029
Varsome	rs730880029
LitVar	rs730880029
Map	rs730880029
PheGenI	rs730880029
Biobank	rs730880029
1000 genomes	rs730880029
hgdp	rs730880029
ensembl	rs730880029
geneview	rs730880029
scholar	rs730880029
google	rs730880029
pharmgkb	rs730880029
gwascentral	rs730880029
openSNP	rs730880029
23andMe	rs730880029
SNPshot	rs730880029
SNPdbe	rs730880029
MSV3d	rs730880029
GWAS Ctlg	rs730880029

Max Magnitude

0

ClinVar
Risk	rs730880029(C;C)
Alt	rs730880029(C;C)
Reference	Rs730880029(A;A)
Significance	Pathogenic
Disease	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Variation	info
Gene	TUBA4B TUBA4A
CLNDBN	Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia
Reversed	1
HGVS	NC_000002.11:g.220115988T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000157039.3,