rs80338865

Orientation

minus

Stabilized

minus

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

Make rs80338865(A;G)

Make rs80338865(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

125061192

Gene	KIAA0196, WASHC5

is a	snp
is	mentioned by
dbSNP	rs80338865
dbSNP (classic)	rs80338865
ClinGen	rs80338865
ebi	rs80338865
HLI	rs80338865
Exac	rs80338865
Gnomad	rs80338865
Varsome	rs80338865
LitVar	rs80338865
Map	rs80338865
PheGenI	rs80338865
Biobank	rs80338865
1000 genomes	rs80338865
hgdp	rs80338865
ensembl	rs80338865
geneview	rs80338865
scholar	rs80338865
google	rs80338865
pharmgkb	rs80338865
gwascentral	rs80338865
openSNP	rs80338865
23andMe	rs80338865
SNPshot	rs80338865
SNPdbe	rs80338865
MSV3d	rs80338865
GWAS Ctlg	rs80338865

Max Magnitude

0

OMIM	610657
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80338865(G;G)
Alt	rs80338865(G;G)
Reference	Rs80338865(A;A)
Significance	Pathogenic
Disease	Spastic paraplegia 8
Variation	info
Gene	KIAA0196
CLNDBN	Spastic paraplegia 8
Reversed	1
HGVS	NC_000008.10:g.126073434T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001222.4,

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