RS8042919 TRPM7

Health Risk Chr 15:50586432 snv missense variant

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What This Variant Does

"[OMIM:TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7

Associated Conditions

Juvenile amyotrophic lateral sclerosis

TRPM7-related disorder

Juvenile amyotrophic lateral sclerosis

TRPM7-related disorder

GWAS Studies (1)

Trait	Risk Allele	OR / Beta	P-value	Study
acne vulgaris	A	OR: 1.11	4E-8	PubMed

ClinVar Assertions (2)

NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)

· 4 submitters

NM_017672.6(TRPM7):c.4445C>T (p.Thr1482Ile)

· 4 submitters

Population Frequencies

gnomAD ALL

89.9%

1kG AFR

99.5%

1kG ALL

92.4%

1kG AMR

4.9%

1kG EAS

11.2%

1kG EUR

9.6%

1kG SAS

86.8%

Other Variants in TRPM7