rs587784481

Orientation

minus

Stabilized

minus

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

Make rs587784481(A;G)

Make rs587784481(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

49185237

Gene

TUBA1A

is a	snp
is	mentioned by
dbSNP	rs587784481
dbSNP (classic)	rs587784481
ClinGen	rs587784481
ebi	rs587784481
HLI	rs587784481
Exac	rs587784481
Gnomad	rs587784481
Varsome	rs587784481
LitVar	rs587784481
Map	rs587784481
PheGenI	rs587784481
Biobank	rs587784481
1000 genomes	rs587784481
hgdp	rs587784481
ensembl	rs587784481
geneview	rs587784481
scholar	rs587784481
google	rs587784481
pharmgkb	rs587784481
gwascentral	rs587784481
openSNP	rs587784481
23andMe	rs587784481
SNPshot	rs587784481
SNPdbe	rs587784481
MSV3d	rs587784481
GWAS Ctlg	rs587784481

Max Magnitude

0

ClinVar
Risk	rs587784481(G;G)
Alt	rs587784481(G;G)
Reference	Rs587784481(A;A)
Significance	Probable-Pathogenic
Disease	Lissencephaly 3
Variation	info
Gene	TUBA1A
CLNDBN	Lissencephaly 3
Reversed	1
HGVS	NC_000012.11:g.49579020T>C
CLNSRC
CLNACC	RCV000147794.1,