rs1057519301

Orientation

minus

Stabilized

minus

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

Make rs1057519301(C;T)

Make rs1057519301(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

2

Position

8731940

Gene

KIDINS220

is a	snp
is	mentioned by
dbSNP	rs1057519301
dbSNP (classic)	rs1057519301
ClinGen	rs1057519301
ebi	rs1057519301
HLI	rs1057519301
Exac	rs1057519301
Gnomad	rs1057519301
Varsome	rs1057519301
LitVar	rs1057519301
Map	rs1057519301
PheGenI	rs1057519301
Biobank	rs1057519301
1000 genomes	rs1057519301
hgdp	rs1057519301
ensembl	rs1057519301
geneview	rs1057519301
scholar	rs1057519301
google	rs1057519301
pharmgkb	rs1057519301
gwascentral	rs1057519301
openSNP	rs1057519301
23andMe	rs1057519301
SNPshot	rs1057519301
SNPdbe	rs1057519301
MSV3d	rs1057519301
GWAS Ctlg	rs1057519301

Max Magnitude

0

ClinVar
Risk	rs1057519301(T;T)
Alt	rs1057519301(T;T)
Reference	Rs1057519301(C;C)
Significance	Pathogenic
Disease	Spastic paraplegia
Variation	info
Gene	KIDINS220
CLNDBN	Spastic paraplegia, intellectual disability, nystagmus, and obesity
Reversed	1
HGVS	NC_000002.11:g.8872070G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000415519.1,