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

rs59885338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs59885338(C;T)
Make rs59885338(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156135268
GeneLMNA
is asnp
is mentioned by
dbSNPrs59885338
dbSNP (classic)rs59885338
ClinGenrs59885338
ebirs59885338
HLIrs59885338
Exacrs59885338
Gnomadrs59885338
Varsomers59885338
LitVarrs59885338
Maprs59885338
PheGenIrs59885338
Biobankrs59885338
1000 genomesrs59885338
hgdprs59885338
ensemblrs59885338
geneviewrs59885338
scholarrs59885338
googlers59885338
pharmgkbrs59885338
gwascentralrs59885338
openSNPrs59885338
23andMers59885338
SNPshotrs59885338
SNPdbers59885338
MSV3drs59885338
GWAS Ctlgrs59885338
Max Magnitude0
OMIM150330
Desc
Variant0020
Relatedalso


ClinVar
Risk rs59885338(T;T)
Alt rs59885338(T;T)
Reference Rs59885338(C;C)
Significance Pathogenic
Disease Charcot-Marie-Tooth disease type 2B1 not provided Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN Charcot-Marie-Tooth disease type 2B1 not provided Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000001.10:g.156105059C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015590.24, RCV000057479.1, RCV000192238.1,