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

rs61064130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61064130(A;A)
Make rs61064130(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position156138611
GeneLMNA
is asnp
is mentioned by
dbSNPrs61064130
dbSNP (classic)rs61064130
ClinGenrs61064130
ebirs61064130
HLIrs61064130
Exacrs61064130
Gnomadrs61064130
Varsomers61064130
LitVarrs61064130
Maprs61064130
PheGenIrs61064130
Biobankrs61064130
1000 genomesrs61064130
hgdprs61064130
ensemblrs61064130
geneviewrs61064130
scholarrs61064130
googlers61064130
pharmgkbrs61064130
gwascentralrs61064130
openSNPrs61064130
23andMers61064130
SNPshotrs61064130
SNPdbers61064130
MSV3drs61064130
GWAS Ctlgrs61064130
Max Magnitude0
OMIM150330
Desc
Variant0023
Relatedalso


ClinVar
Risk rs61064130(A;A)
Alt rs61064130(A;A)
Reference Rs61064130(G;G)
Significance Pathogenic
Disease Hutchinson-Gilford syndrome not provided
Variation info
Gene LMNA
CLNDBN Hutchinson-Gilford syndrome not provided
Reversed 0
HGVS NC_000001.10:g.156108402G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015595.26, RCV000057363.1,