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rs770272088

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs770272088(G;T)
Make rs770272088(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position76302962
GeneHSPB1
is asnp
is mentioned by
dbSNPrs770272088
dbSNP (classic)rs770272088
ClinGenrs770272088
ebirs770272088
HLIrs770272088
Exacrs770272088
Gnomadrs770272088
Varsomers770272088
LitVarrs770272088
Maprs770272088
PheGenIrs770272088
Biobankrs770272088
1000 genomesrs770272088
hgdprs770272088
ensemblrs770272088
geneviewrs770272088
scholarrs770272088
googlers770272088
pharmgkbrs770272088
gwascentralrs770272088
openSNPrs770272088
23andMers770272088
SNPshotrs770272088
SNPdbers770272088
MSV3drs770272088
GWAS Ctlgrs770272088
Max Magnitude0
ClinVar
Risk rs770272088(C;C) rs770272088(T;T)
Alt rs770272088(C;C) rs770272088(T;T)
Reference Rs770272088(G;G)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2F
Variation info
Gene HSPB1
CLNDBN Charcot-Marie-Tooth disease type 2F
Reversed 0
HGVS NC_000007.13:g.75932279G>C
CLNSRC
CLNACC RCV000204495.1,