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rs876657407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs876657407(A;G)
Make rs876657407(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position228175028
GeneIBA57
is asnp
is mentioned by
dbSNPrs876657407
dbSNP (classic)rs876657407
ClinGenrs876657407
ebirs876657407
HLIrs876657407
Exacrs876657407
Gnomadrs876657407
Varsomers876657407
LitVarrs876657407
Maprs876657407
PheGenIrs876657407
Biobankrs876657407
1000 genomesrs876657407
hgdprs876657407
ensemblrs876657407
geneviewrs876657407
scholarrs876657407
googlers876657407
pharmgkbrs876657407
gwascentralrs876657407
openSNPrs876657407
23andMers876657407
SNPshotrs876657407
SNPdbers876657407
MSV3drs876657407
GWAS Ctlgrs876657407
Max Magnitude0
ClinVar
Risk rs876657407(G;G)
Alt rs876657407(G;G)
Reference Rs876657407(A;A)
Significance Pathogenic
Disease Spastic paraplegia 74
Variation info
Gene IBA57
CLNDBN Spastic paraplegia 74, autosomal recessive
Reversed 0
HGVS NC_000001.10:g.228362729A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000185609.3,