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rs387907172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907172(C;C)
Make rs387907172(C;T)
ReferenceGRCh38 38.1/141
Chromosome16
Position74719067
GeneFA2H
is asnp
is mentioned by
dbSNPrs387907172
ebirs387907172
HLIrs387907172
Exacrs387907172
Varsomers387907172
Maprs387907172
PheGenIrs387907172
hapmaprs387907172
1000 genomesrs387907172
hgdprs387907172
ensemblrs387907172
gopubmedrs387907172
geneviewrs387907172
scholarrs387907172
googlers387907172
pharmgkbrs387907172
gwascentralrs387907172
openSNPrs387907172
23andMers387907172
23andMe allrs387907172
SNP Nexus

SNPshotrs387907172
SNPdbers387907172
MSV3drs387907172
GWAS Ctlgrs387907172
Max Magnitude0
ClinVar
Risk rs387907172(C;C)
Alt rs387907172(C;C)
Reference rs387907172(T;T)
Significance Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 1
HGVS NC_000016.9:g.74752965A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000024321.4,