RS113247976 KIF5A

Health Risk Chr 12:57581916 snv missense variant

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What This Variant Does

"aka Pro986Leu ~1.4x increased risk for ALS, also known as Lou Gehrig's disease, is associated with t..."

Associated Conditions

Hereditary spastic paraplegia 10

Spastic paraplegia

Amyotrophic lateral sclerosis

Hereditary spastic paraplegia

Spastic paraplegia

Hereditary spastic paraplegia 10

Spastic paraplegia

Amyotrophic lateral sclerosis

Hereditary spastic paraplegia

Spastic paraplegia

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
Amyotrophic lateral sclerosis	—	OR: 1.39	7E-13	PubMed
Amyotrophic lateral sclerosis	T	OR: 0.33	1E-11	PubMed

Population Frequencies

gnomAD ALL

1kG AFR

99.8%

1kG ALL

0.7%

1kG AMR

0.9%

1kG EAS

100%

1kG EUR

97.6%

1kG SAS

0.2%

Other Variants in KIF5A