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rs387907040

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387907040(C;T)
Make rs387907040(T;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position74727290
GeneFA2H
is asnp
is mentioned by
dbSNPrs387907040
ebirs387907040
HLIrs387907040
Exacrs387907040
Varsomers387907040
Maprs387907040
PheGenIrs387907040
hapmaprs387907040
1000 genomesrs387907040
hgdprs387907040
ensemblrs387907040
gopubmedrs387907040
geneviewrs387907040
scholarrs387907040
googlers387907040
pharmgkbrs387907040
gwascentralrs387907040
openSNPrs387907040
23andMers387907040
23andMe allrs387907040
SNP Nexus

SNPshotrs387907040
SNPdbers387907040
MSV3drs387907040
GWAS Ctlgrs387907040
Max Magnitude0
ClinVar
Risk rs387907040(T;T)
Alt rs387907040(T;T)
Reference rs387907040(C;C)
Significance Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 1
HGVS NC_000016.9:g.74761188G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023857.4,