rs119476049

Orientation

plus

Stabilized

plus

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

Make rs119476049(A;A)

Make rs119476049(A;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50613278

Gene

ATL1

is a	snp
is	mentioned by
dbSNP	rs119476049
dbSNP (classic)	rs119476049
ClinGen	rs119476049
ebi	rs119476049
HLI	rs119476049
Exac	rs119476049
Gnomad	rs119476049
Varsome	rs119476049
LitVar	rs119476049
Map	rs119476049
PheGenI	rs119476049
Biobank	rs119476049
1000 genomes	rs119476049
hgdp	rs119476049
ensembl	rs119476049
geneview	rs119476049
scholar	rs119476049
google	rs119476049
pharmgkb	rs119476049
gwascentral	rs119476049
openSNP	rs119476049
23andMe	rs119476049
SNPshot	rs119476049
SNPdbe	rs119476049
MSV3d	rs119476049
GWAS Ctlg	rs119476049

Max Magnitude

0

OMIM	606439
Desc
Variant	0004
Related	also

ClinVar
Risk	rs119476049(A;A)
Alt	rs119476049(A;A)
Reference	Rs119476049(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 3
Variation	info
Gene	ATL1
CLNDBN	Spastic paraplegia 3
Reversed	0
HGVS	NC_000014.8:g.51079996G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004597.2,