MINAR2 Chromosome 5

Membrane integral NOTCH2 associated receptor 2
3 variants 3 Health Risk

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What This Gene Does
Enables cholesterol binding activity. Involved in angiogenesis. Located in endoplasmic reticulum. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Hearing loss
autosomal recessive 120
Key Variants
RS2149546596
Pathogenic
Hearing loss, autosomal recessive 120, Hearing loss
Health Risk
RS2479687611
Pathogenic
Hearing loss, autosomal recessive 120, Hearing loss
Health Risk
RS2479708257
Pathogenic
Hearing loss, autosomal recessive 120, Hearing loss
Health Risk
All Variants (3)
RSID Category Clinical Significance Conditions
RS2149546596 Health Risk Pathogenic Hearing loss, autosomal recessive 120, Hearing loss
RS2479687611 Health Risk Pathogenic Hearing loss, autosomal recessive 120, Hearing loss
RS2479708257 Health Risk Pathogenic Hearing loss, autosomal recessive 120, Hearing loss
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