RS138000380 ANO10

Health Risk Chr 3:43432681 snv missense variant

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What This Variant Does

"CLNSIG=5

Associated Conditions

Autosomal recessive spinocerebellar ataxia 10

ClinVar Assertions (2)

NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)

· 11 submitters

NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)

· 11 submitters

Population Frequencies

gnomAD ALL

0.1%

1kG AFR

100%

1kG ALL

99.9%

1kG AMR

100%

1kG EAS

100%

1kG EUR

0.4%

1kG SAS

100%

Other Variants in ANO10