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

rs797044532

From SNPedia

ClinVar
Risk rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Alt rs797044532(GCCTCCGCCGCACCCCC;GCCTCCGCCGCACCCCC)
Reference rs797044532(;)
Significance Pathogenic
Disease Blepharophimosis syndrome type 1 Blepharophimosis
Variation info
Gene FOXL2 FOXL2NB C3orf72 LINC01391
CLNDBN Blepharophimosis syndrome type 1 Blepharophimosis, ptosis, and epicanthus inversus
Reversed 1
HGVS NC_000003.11:g.138664694_138664710dup17
CLNSRC OMIM Allelic Variant
CLNACC RCV000005142.2, RCV000192040.1,