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rs145555213

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145555213(A;A)
Make rs145555213(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position5368994
GeneFARS2
is asnp
is mentioned by
dbSNPrs145555213
dbSNP (classic)rs145555213
ClinGenrs145555213
ebirs145555213
HLIrs145555213
Exacrs145555213
Gnomadrs145555213
Varsomers145555213
LitVarrs145555213
Maprs145555213
PheGenIrs145555213
Biobankrs145555213
1000 genomesrs145555213
hgdprs145555213
ensemblrs145555213
geneviewrs145555213
scholarrs145555213
googlers145555213
pharmgkbrs145555213
gwascentralrs145555213
openSNPrs145555213
23andMers145555213
SNPshotrs145555213
SNPdbers145555213
MSV3drs145555213
GWAS Ctlgrs145555213
Max Magnitude0
ClinVar
Risk rs145555213(A;A) rs145555213(T;T)
Alt rs145555213(A;A) rs145555213(T;T)
Reference Rs145555213(G;G)
Significance Pathogenic
Disease Spastic paraplegia 77
Variation info
Gene FARS2
CLNDBN Spastic paraplegia 77, autosomal recessive
Reversed 0
HGVS NC_000006.11:g.5369227G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239526.1,