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rs1057519301

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519301(C;T)
Make rs1057519301(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position8731940
GeneKIDINS220
is asnp
is mentioned by
dbSNPrs1057519301
dbSNP (old)rs1057519301
ClinGenrs1057519301
ebirs1057519301
HLIrs1057519301
Exacrs1057519301
Gnomadrs1057519301
Varsomers1057519301
LitVarrs1057519301
Maprs1057519301
PheGenIrs1057519301
Biobankrs1057519301
1000 genomesrs1057519301
hgdprs1057519301
ensemblrs1057519301
gopubmedrs1057519301
geneviewrs1057519301
scholarrs1057519301
googlers1057519301
pharmgkbrs1057519301
gwascentralrs1057519301
openSNPrs1057519301
23andMers1057519301
23andMe allrs1057519301
SNPshotrs1057519301
SNPdbers1057519301
MSV3drs1057519301
GWAS Ctlgrs1057519301
Max Magnitude0
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,