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rs66468541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66468541(A;A)
Make rs66468541(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position197497275
GeneHSPD1
is asnp
is mentioned by
dbSNPrs66468541
ebirs66468541
HLIrs66468541
Exacrs66468541
Varsomers66468541
Maprs66468541
PheGenIrs66468541
hapmaprs66468541
1000 genomesrs66468541
hgdprs66468541
ensemblrs66468541
gopubmedrs66468541
geneviewrs66468541
scholarrs66468541
googlers66468541
pharmgkbrs66468541
gwascentralrs66468541
openSNPrs66468541
23andMers66468541
23andMe allrs66468541
SNP Nexus

SNPshotrs66468541
SNPdbers66468541
MSV3drs66468541
GWAS Ctlgrs66468541
Max Magnitude0
OMIM118190
Desc
Variant0001
Relatedalso
ClinVar
Risk rs66468541(A;A)
Alt rs66468541(A;A)
Reference rs66468541(G;G)
Significance Pathogenic
Disease Spastic paraplegia 13
Variation info
Gene HSPD1
CLNDBN Spastic paraplegia 13
Reversed 1
HGVS NC_000002.11:g.198361999C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019112.28,