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rs876661322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs876661322(G;T)
Make rs876661322(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position100183802
GeneERLIN1
is asnp
is mentioned by
dbSNPrs876661322
dbSNP (classic)rs876661322
ClinGenrs876661322
ebirs876661322
HLIrs876661322
Exacrs876661322
Gnomadrs876661322
Varsomers876661322
LitVarrs876661322
Maprs876661322
PheGenIrs876661322
Biobankrs876661322
1000 genomesrs876661322
hgdprs876661322
ensemblrs876661322
geneviewrs876661322
scholarrs876661322
googlers876661322
pharmgkbrs876661322
gwascentralrs876661322
openSNPrs876661322
23andMers876661322
SNPshotrs876661322
SNPdbers876661322
MSV3drs876661322
GWAS Ctlgrs876661322
Max Magnitude0
ClinVar
Risk rs876661322(T;T)
Alt rs876661322(T;T)
Reference Rs876661322(G;G)
Significance Pathogenic
Disease Spastic paraplegia 62
Variation info
Gene ERLIN1
CLNDBN Spastic paraplegia 62, autosomal recessive
Reversed 1
HGVS NC_000010.10:g.101943559C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000211706.1,