RS139531404 C1R

Health Risk Chr 12:7090143 snv missense variant

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Associated Conditions

Ehlers-Danlos syndrome

periodontal type 1

Vascular dementia

Ehlers-Danlos syndrome

periodontal type 1

Vascular dementia

GWAS Studies (2)

Trait	Risk Allele	OR / Beta	P-value	Study
C1R protein levels	G	OR: 0.44	7E-28	PubMed
Diacylglycerol kinase beta levels (DGKB.12895.28.3)	G	OR: 1.54	1E-18	PubMed

Population Frequencies

gnomAD ALL

0.3%

1kG AFR

99.9%

1kG ALL

0.3%

1kG AMR

99.1%

1kG EAS

100%

1kG EUR

99.2%

1kG SAS

100%

Other Variants in C1R