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rs57318642

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs57318642(C;T)
Make rs57318642(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156137203
GeneLMNA
is asnp
is mentioned by
dbSNPrs57318642
ebirs57318642
HLIrs57318642
Exacrs57318642
Varsomers57318642
Maprs57318642
PheGenIrs57318642
hapmaprs57318642
1000 genomesrs57318642
hgdprs57318642
ensemblrs57318642
gopubmedrs57318642
geneviewrs57318642
scholarrs57318642
googlers57318642
pharmgkbrs57318642
gwascentralrs57318642
openSNPrs57318642
23andMers57318642
23andMe allrs57318642
SNP Nexus

SNPshotrs57318642
SNPdbers57318642
MSV3drs57318642
GWAS Ctlgrs57318642
Max Magnitude0
OMIM150330
Desc
Variant0026
Relatedalso


ClinVar
Risk rs57318642(T;T)
Alt rs57318642(T;T)
Reference rs57318642(C;C)
Significance Pathogenic
Disease Mandibuloacral dysostosis not provided Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease
Variation info
Gene LMNA
CLNDBN Mandibuloacral dysostosis not provided Hutchinson-Gilford syndrome Charcot-Marie-Tooth disease
Reversed 0
HGVS NC_000001.10:g.156106994C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015576.23, RCV000057324.1, RCV000192011.1, RCV000192240.1,