rs119476048

Orientation

plus

Stabilized

plus

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

Make rs119476048(A;G)

Make rs119476048(G;G)

Reference

GRCh38 38.1/141

Chromosome

14

Position

50614422

Gene

ATL1

is a	snp
is	mentioned by
dbSNP	rs119476048
dbSNP (classic)	rs119476048
ClinGen	rs119476048
ebi	rs119476048
HLI	rs119476048
Exac	rs119476048
Gnomad	rs119476048
Varsome	rs119476048
LitVar	rs119476048
Map	rs119476048
PheGenI	rs119476048
Biobank	rs119476048
1000 genomes	rs119476048
hgdp	rs119476048
ensembl	rs119476048
geneview	rs119476048
scholar	rs119476048
google	rs119476048
pharmgkb	rs119476048
gwascentral	rs119476048
openSNP	rs119476048
23andMe	rs119476048
SNPshot	rs119476048
SNPdbe	rs119476048
MSV3d	rs119476048
GWAS Ctlg	rs119476048

Max Magnitude

0

OMIM	606439
Desc
Variant	0003
Related	also

ClinVar
Risk	rs119476048(G;G)
Alt	rs119476048(G;G)
Reference	Rs119476048(A;A)
Significance	Pathogenic
Disease	Spastic paraplegia 3
Variation	info
Gene	ATL1
CLNDBN	Spastic paraplegia 3
Reversed	0
HGVS	NC_000014.8:g.51081140A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004596.3,