RS11652075 SGSH

Health Risk Chr 17:80205093 snv missense variant

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What This Variant Does

"CLNSIG=2

Associated Conditions

Psoriasis 2

Pityriasis rubra pilaris

Autoinflammatory syndrome

Psoriasis 2

Pityriasis rubra pilaris

Autoinflammatory syndrome

GWAS Studies (4)

Trait	Risk Allele	OR / Beta	P-value	Study
Psoriasis	T	β: 0.059	2E-8	PubMed
Psoriasis	C	OR: 1.11	3E-8	PubMed
Non(never)-lesional skin FLG expression levels in childhood atopic dermatitis	T	OR: 0.77	4E-7	PubMed
Hirschsprung disease	C	—	8E-6	PubMed

Population Frequencies

gnomAD ALL

52.3%

1kG AFR

19.1%

1kG ALL

35.3%

1kG AMR

72.3%

1kG EAS

50.1%

1kG EUR

49%

1kG SAS

31.4%

Other Variants in SGSH