Have questions? Visit https://www.reddit.com/r/SNPedia

rs797044533

From SNPedia

ClinVar
Risk rs797044533(;)
Alt rs797044533(;)
Reference rs797044533(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Significance Pathogenic
Disease Blepharophimosis syndrome type 2 Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis syndrome type 2 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664694_138664710del17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005134.2, RCV000192041.1,