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rs587777667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAC;AAAAC) 0 common in clinvar
Make rs587777667(-;-)
Make rs587777667(-;AACAA)
Make rs587777667(AACAA;AACAA)
ReferenceGRCh38 38.1/142
Chromosome12
Position123256943
GeneC12orf65
is asnp
is mentioned by
dbSNPrs587777667
ebirs587777667
HLIrs587777667
Exacrs587777667
Varsomers587777667
Maprs587777667
PheGenIrs587777667
hapmaprs587777667
1000 genomesrs587777667
hgdprs587777667
ensemblrs587777667
gopubmedrs587777667
geneviewrs587777667
scholarrs587777667
googlers587777667
pharmgkbrs587777667
gwascentralrs587777667
openSNPrs587777667
23andMers587777667
23andMe allrs587777667
SNP Nexus

SNPshotrs587777667
SNPdbers587777667
MSV3drs587777667
GWAS Ctlgrs587777667
Max Magnitude0
ClinVar
Risk rs587777667(;)
Alt rs587777667(;)
Reference rs587777667(AAAAC;AAAAC)
Significance Pathogenic
Disease Spastic paraplegia 55
Variation info
Gene C12orf65
CLNDBN Spastic paraplegia 55, autosomal recessive
Reversed 0
HGVS NC_000012.11:g.123741490_123741494delAACAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000133580.2,