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rs759947457

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC) 0 common in clinvar
Make rs759947457(-;-)
Make rs759947457(-;CTGATGTCCTGGCCCGCC)
ReferenceGRCh38.p2 38.2/144
Chromosome16
Position74774580
GeneFA2H
is asnp
is mentioned by
dbSNPrs759947457
dbSNP (old)rs759947457
ClinGenrs759947457
ebirs759947457
HLIrs759947457
Exacrs759947457
Varsomers759947457
Maprs759947457
PheGenIrs759947457
Biobankrs759947457
1000 genomesrs759947457
hgdprs759947457
ensemblrs759947457
gopubmedrs759947457
geneviewrs759947457
scholarrs759947457
googlers759947457
pharmgkbrs759947457
gwascentralrs759947457
openSNPrs759947457
23andMers759947457
23andMe allrs759947457
SNP Nexus

SNPshotrs759947457
SNPdbers759947457
MSV3drs759947457
GWAS Ctlgrs759947457
Max Magnitude0
ClinVar
Risk rs759947457(-;-)
Alt rs759947457(-;-)
Reference Rs759947457(CTGATGTCCTGGCCCGCC;CTGATGTCCTGGCCCGCC)
Significance Pathogenic
Disease Spastic paraplegia 35
Variation info
Gene FA2H
CLNDBN Spastic paraplegia 35
Reversed 0
HGVS NC_000016.9:g.74808478_74808495del18
CLNSRC OMIM Allelic Variant
CLNACC RCV000023856.4,