RS1048990 PSMA6

Health Risk Chr 14:35292468 snv 5 prime UTR variant

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What This Variant Does

"rs1048990, also known as the exon-1 -8C/G SNP in the PSMA6 gene, has been reported in a large study ...

Associated Conditions

Myocardial infarction

susceptibility to

PSMA6-related disorder

Myocardial infarction

susceptibility to

PSMA6-related disorder

GWAS Studies (1)

Trait	Risk Allele	OR / Beta	P-value	Study
Allergic disease (asthma, hay fever or eczema)	G	OR: 1.04	1E-8	PubMed

ClinVar Assertions (1)

NM_002791.3(PSMA6):c.-8C>G

· 2 submitters

Population Frequencies

gnomAD ALL

82.5%

1kG AFR

3.2%

1kG ALL

81%

1kG AMR

20.5%

1kG EAS

63%

1kG EUR

83.6%

1kG SAS

76.4%