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rs398122992

From SNPedia

ClinVar
Risk rs398122992(;)
Alt rs398122992(;)
Reference rs398122992(AGGTCTAATCAAATTAAAA;AGGTCTAATCAAATTAAAA)
Significance Pathogenic
Disease not provided Alstrom syndrome
Variation info
Gene ALMS1
CLNDBN not provided Alstrom syndrome
Reversed 0
HGVS NC_000002.11:g.73800117_73800135del19
CLNSRC
CLNACC RCV000077807.1, RCV000210462.1,