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rs1057519302

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057519302(-;T)
Make rs1057519302(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position8731515
GeneKIDINS220
is asnp
is mentioned by
dbSNPrs1057519302
dbSNP (old)rs1057519302
ClinGenrs1057519302
ebirs1057519302
HLIrs1057519302
Exacrs1057519302
Gnomadrs1057519302
Varsomers1057519302
Maprs1057519302
PheGenIrs1057519302
Biobankrs1057519302
1000 genomesrs1057519302
hgdprs1057519302
ensemblrs1057519302
gopubmedrs1057519302
geneviewrs1057519302
scholarrs1057519302
googlers1057519302
pharmgkbrs1057519302
gwascentralrs1057519302
openSNPrs1057519302
23andMers1057519302
23andMe allrs1057519302
SNPshotrs1057519302
SNPdbers1057519302
MSV3drs1057519302
GWAS Ctlgrs1057519302
Max Magnitude0
ClinVar
Risk rs1057519302(T;T)
Alt rs1057519302(T;T)
Reference Rs1057519302(-;-)
Significance Pathogenic
Disease Spastic paraplegia
Variation info
Gene KIDINS220
CLNDBN Spastic paraplegia, intellectual disability, nystagmus, and obesity
Reversed 1
HGVS NC_000002.11:g.8871646dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415551.1,