Have questions? Visit https://www.reddit.com/r/SNPedia

rs35077384

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35077384(A;A)
Make rs35077384(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position97749494
GeneZFYVE27
is asnp
is mentioned by
dbSNPrs35077384
ebirs35077384
HLIrs35077384
Exacrs35077384
Varsomers35077384
Maprs35077384
PheGenIrs35077384
hapmaprs35077384
1000 genomesrs35077384
hgdprs35077384
ensemblrs35077384
gopubmedrs35077384
geneviewrs35077384
scholarrs35077384
googlers35077384
pharmgkbrs35077384
gwascentralrs35077384
openSNPrs35077384
23andMers35077384
23andMe allrs35077384
SNP Nexus

SNPshotrs35077384
SNPdbers35077384
MSV3drs35077384
GWAS Ctlgrs35077384
GMAF0.02204
Max Magnitude0
OMIM610244
DescSPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33
Variant
Relatedalso
OMIM610243
DescZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 27; ZFYVE27
Variant
Relatedalso
? (A;C) (C;C)
OMIM610243
Desc
Variant0001
Relatedalso


ClinVar
Risk rs35077384(A;A)
Alt rs35077384(A;A)
Reference rs35077384(C;C)
Significance Pathogenic
Disease Spastic paraplegia 33
Variation info
Gene ZFYVE27
CLNDBN Spastic paraplegia 33, autosomal dominant
Reversed 1
HGVS NC_000010.10:g.99509251G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001352.6,



GET Evidence
ZFYVE27-G191V
aa_change Gly191Val
aa_change_short G191V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.030303
summary