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rs113436208

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113436208(C;C)
Make rs113436208(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position156138758
GeneLMNA
is asnp
is mentioned by
dbSNPrs113436208
ebirs113436208
HLIrs113436208
Exacrs113436208
Varsomers113436208
Maprs113436208
PheGenIrs113436208
hapmaprs113436208
1000 genomesrs113436208
hgdprs113436208
ensemblrs113436208
gopubmedrs113436208
geneviewrs113436208
scholarrs113436208
googlers113436208
pharmgkbrs113436208
gwascentralrs113436208
openSNPrs113436208
23andMers113436208
23andMe allrs113436208
SNP Nexus

SNPshotrs113436208
SNPdbers113436208
MSV3drs113436208
GWAS Ctlgrs113436208
Max Magnitude0
ClinVar
Risk rs113436208(A,C;A,C)
Alt rs113436208(A,C;A,C)
Reference rs113436208(G;G)
Significance Pathogenic
Disease Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome not provided
Variation info
Gene LMNA
CLNDBN Lethal tight skin contracture syndrome Hutchinson-Gilford syndrome not provided
Reversed 0
HGVS NC_000001.10:g.156108549G>A; NC_000001.10:g.156108549G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015606.27, RCV000015607.28, RCV000057377.1, RCV000192016.1,