rs80338866

Orientation

minus

Stabilized

minus

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

Make rs80338866(G;T)

Make rs80338866(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

125057574

Gene	KIAA0196, WASHC5

is a	snp
is	mentioned by
dbSNP	rs80338866
dbSNP (classic)	rs80338866
ClinGen	rs80338866
ebi	rs80338866
HLI	rs80338866
Exac	rs80338866
Gnomad	rs80338866
Varsome	rs80338866
LitVar	rs80338866
Map	rs80338866
PheGenI	rs80338866
Biobank	rs80338866
1000 genomes	rs80338866
hgdp	rs80338866
ensembl	rs80338866
geneview	rs80338866
scholar	rs80338866
google	rs80338866
pharmgkb	rs80338866
gwascentral	rs80338866
openSNP	rs80338866
23andMe	rs80338866
SNPshot	rs80338866
SNPdbe	rs80338866
MSV3d	rs80338866
GWAS Ctlg	rs80338866

Max Magnitude

0

OMIM	610657
Desc
Variant	0002
Related	also

ClinVar
Risk	rs80338866(C;C) rs80338866(T;T)
Alt	rs80338866(C;C) rs80338866(T;T)
Reference	Rs80338866(G;G)
Significance	Pathogenic
Disease	Spastic paraplegia 8
Variation	info
Gene	KIAA0196
CLNDBN	Spastic paraplegia 8
Reversed	1
HGVS	NC_000008.10:g.126069816C>A; NC_000008.10:g.126069816C>G
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000032101.1, RCV000001221.3,

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