RS505058 LMNA

Health Risk Chr 1:156136393 snv missense variant

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Associated Conditions

Hutchinson-Gilford syndrome

Lethal tight skin contracture syndrome

Congenital muscular dystrophy due to LMNA mutation

Emery-Dreifuss muscular dystrophy

Charcot-Marie-Tooth disease type 2B1

Mandibuloacral dysplasia with type A lipodystrophy

Emery-Dreifuss muscular dystrophy 2

autosomal dominant

Dilated cardiomyopathy 1A

Lipoatrophy with Diabetes

Hepatic Steatosis

Hypertrophic Cardiomyopathy

and Leukomelanodermic Papules

Familial partial lipodystrophy

Dunnigan type

GWAS Studies (5)

Trait	Risk Allele	OR / Beta	P-value	Study
Height	—	—	1E-15	PubMed
Standing height (UKB data field 50)	C	β: 0.016	5E-13	PubMed
Height	—	β: 0.024	2E-11	PubMed
Body size (confirmatory factor analysis Factor 21)	—	—	1E-10	PubMed
Height	C	β: 0.022	8E-10	PubMed

Population Frequencies

gnomAD ALL

91.4%

1kG AFR

27.5%

1kG ALL

24.9%

1kG AMR

9.8%

1kG EAS

97.7%

1kG EUR

8.6%

1kG SAS

88.5%

Other Variants in LMNA