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rs398123002

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398123002(G;T)
Make rs398123002(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position37749793
GeneERLIN2, LOC728024
is asnp
is mentioned by
dbSNPrs398123002
ebirs398123002
HLIrs398123002
Exacrs398123002
Varsomers398123002
Maprs398123002
PheGenIrs398123002
hapmaprs398123002
1000 genomesrs398123002
hgdprs398123002
ensemblrs398123002
gopubmedrs398123002
geneviewrs398123002
scholarrs398123002
googlers398123002
pharmgkbrs398123002
gwascentralrs398123002
openSNPrs398123002
23andMers398123002
23andMe allrs398123002
SNP Nexus

SNPshotrs398123002
SNPdbers398123002
MSV3drs398123002
GWAS Ctlgrs398123002
Max Magnitude0
ClinVar
Risk rs398123002(T;T)
Alt rs398123002(T;T)
Reference rs398123002(G;G)
Significance Pathogenic
Disease Spastic paraplegia 18
Variation info
Gene ERLIN2 LOC728024
CLNDBN Spastic paraplegia 18
Reversed 0
HGVS NC_000008.10:g.37607311G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000077785.4,