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rs1057519300

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519300(A;A)
Make rs1057519300(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position8733447
GeneKIDINS220
is asnp
is mentioned by
dbSNPrs1057519300
dbSNP (old)rs1057519300
ClinGenrs1057519300
ebirs1057519300
HLIrs1057519300
Exacrs1057519300
Gnomadrs1057519300
Varsomers1057519300
Maprs1057519300
PheGenIrs1057519300
Biobankrs1057519300
1000 genomesrs1057519300
hgdprs1057519300
ensemblrs1057519300
gopubmedrs1057519300
geneviewrs1057519300
scholarrs1057519300
googlers1057519300
pharmgkbrs1057519300
gwascentralrs1057519300
openSNPrs1057519300
23andMers1057519300
23andMe allrs1057519300
SNPshotrs1057519300
SNPdbers1057519300
MSV3drs1057519300
GWAS Ctlgrs1057519300
Max Magnitude0
ClinVar
Risk rs1057519300(A;A)
Alt rs1057519300(A;A)
Reference Rs1057519300(G;G)
Significance Pathogenic
Disease Spastic paraplegia
Variation info
Gene KIDINS220
CLNDBN Spastic paraplegia, intellectual disability, nystagmus, and obesity
Reversed 1
HGVS NC_000002.11:g.8873577C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415590.1,