RS121434508 TMEM126A

Health Risk Chr 11:85654138 snv stop gained

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What This Variant Does

"[OMIM:?]

Associated Conditions

Autosomal recessive optic atrophy

OPA7 type

TMEM126A-related disorder

Autosomal recessive optic atrophy

OPA7 type

TMEM126A-related disorder

Population Frequencies

gnomAD ALL

100%

1kG AFR

100%

1kG ALL

100%

1kG AMR

100%

1kG EAS

99.9%

1kG EUR

100%

1kG SAS

100%

Other Variants in TMEM126A