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rs121918217

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918217(G;T)
Make rs121918217(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position74774653
GeneFA2H
is asnp
is mentioned by
dbSNPrs121918217
ebirs121918217
HLIrs121918217
Exacrs121918217
Varsomers121918217
Maprs121918217
PheGenIrs121918217
hapmaprs121918217
1000 genomesrs121918217
hgdprs121918217
ensemblrs121918217
gopubmedrs121918217
geneviewrs121918217
scholarrs121918217
googlers121918217
pharmgkbrs121918217
gwascentralrs121918217
openSNPrs121918217
23andMers121918217
23andMe allrs121918217
SNP Nexus

SNPshotrs121918217
SNPdbers121918217
MSV3drs121918217
GWAS Ctlgrs121918217
Max Magnitude0
OMIM611026
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918217(T;T)
Alt rs121918217(T;T)
Reference rs121918217(G;G)
Significance Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 1
HGVS NC_000016.9:g.74808551C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001099.3,