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rs1060503021

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs1060503021(CT;CT)
Make rs1060503021(CT;GC)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position76304077
GeneHSPB1
is asnp
is mentioned by
dbSNPrs1060503021
dbSNP (old)rs1060503021
ClinGenrs1060503021
ebirs1060503021
HLIrs1060503021
Exacrs1060503021
Gnomadrs1060503021
Varsomers1060503021
Maprs1060503021
PheGenIrs1060503021
Biobankrs1060503021
1000 genomesrs1060503021
hgdprs1060503021
ensemblrs1060503021
gopubmedrs1060503021
geneviewrs1060503021
scholarrs1060503021
googlers1060503021
pharmgkbrs1060503021
gwascentralrs1060503021
openSNPrs1060503021
23andMers1060503021
23andMe allrs1060503021
SNPshotrs1060503021
SNPdbers1060503021
MSV3drs1060503021
GWAS Ctlgrs1060503021
Max Magnitude0
ClinVar
Risk rs1060503021(CT;CT)
Alt rs1060503021(CT;CT)
Reference Rs1060503021(GC;GC)
Significance Probable-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.75933394_75933395delGCinsCT
CLNSRC
CLNACC RCV000468008.1,