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

rs864309500

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs864309500(-;-)
Make rs864309500(-;CT)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position133352094
GeneSURF1
is asnp
is mentioned by
dbSNPrs864309500
dbSNP (classic)rs864309500
ClinGenrs864309500
ebirs864309500
HLIrs864309500
Exacrs864309500
Gnomadrs864309500
Varsomers864309500
LitVarrs864309500
Maprs864309500
PheGenIrs864309500
Biobankrs864309500
1000 genomesrs864309500
hgdprs864309500
ensemblrs864309500
geneviewrs864309500
scholarrs864309500
googlers864309500
pharmgkbrs864309500
gwascentralrs864309500
openSNPrs864309500
23andMers864309500
SNPshotrs864309500
SNPdbers864309500
MSV3drs864309500
GWAS Ctlgrs864309500
Max Magnitude0
ClinVar
Risk rs864309500(-;-)
Alt rs864309500(-;-)
Reference Rs864309500(CT;CT)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease
Variation info
Gene SURF1
CLNDBN Charcot-Marie-Tooth disease, type 4k
Reversed 1
HGVS NC_000009.11:g.136218949_136218950delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000202439.1,