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rs118203986

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs118203986(A;G)
Make rs118203986(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position10256063
GeneCCT5
is asnp
is mentioned by
dbSNPrs118203986
dbSNP (classic)rs118203986
ClinGenrs118203986
ebirs118203986
HLIrs118203986
Exacrs118203986
Gnomadrs118203986
Varsomers118203986
LitVarrs118203986
Maprs118203986
PheGenIrs118203986
Biobankrs118203986
1000 genomesrs118203986
hgdprs118203986
ensemblrs118203986
geneviewrs118203986
scholarrs118203986
googlers118203986
pharmgkbrs118203986
gwascentralrs118203986
openSNPrs118203986
23andMers118203986
SNPshotrs118203986
SNPdbers118203986
MSV3drs118203986
GWAS Ctlgrs118203986
GMAF0.0
Max Magnitude0
OMIM610150
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203986(G;G)
Alt rs118203986(G;G)
Reference Rs118203986(A;A)
Significance Pathogenic
Disease Neuropathy not provided
Variation info
Gene CCT5
CLNDBN Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive not provided
Reversed 0
HGVS NC_000005.9:g.10256175A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000001390.2, RCV000434241.1,