rs80338867

Orientation

minus

Stabilized

minus

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

Make rs80338867(G;T)

Make rs80338867(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

125056817

Gene	KIAA0196, WASHC5

is a	snp
is	mentioned by
dbSNP	rs80338867
dbSNP (classic)	rs80338867
ClinGen	rs80338867
ebi	rs80338867
HLI	rs80338867
Exac	rs80338867
Gnomad	rs80338867
Varsome	rs80338867
LitVar	rs80338867
Map	rs80338867
PheGenI	rs80338867
Biobank	rs80338867
1000 genomes	rs80338867
hgdp	rs80338867
ensembl	rs80338867
geneview	rs80338867
scholar	rs80338867
google	rs80338867
pharmgkb	rs80338867
gwascentral	rs80338867
openSNP	rs80338867
23andMe	rs80338867
SNPshot	rs80338867
SNPdbe	rs80338867
MSV3d	rs80338867
GWAS Ctlg	rs80338867

Max Magnitude

0

OMIM	610657
Desc
Variant	0001
Related	also

ClinVar
Risk	rs80338867(T;T)
Alt	rs80338867(T;T)
Reference	Rs80338867(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 8 Spastic paraplegia
Variation	info
Gene	KIAA0196
CLNDBN	Spastic paraplegia 8 Spastic paraplegia
Reversed	1
HGVS	NC_000008.10:g.126069059C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001220.2, RCV000469759.1,

[PMID 17160902] Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.