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

rs1064792983

From SNPedia
ClinVar
Risk rs1064792983(GG;GG)
Alt rs1064792983(GG;GG)
Reference Rs1064792983(ATGAGTAATGTAA;ATGAGTAATGTAA)
Significance Pathogenic
Disease Joubert syndrome Meckel-Gruber syndrome
Variation info
Gene TMEM67
CLNDBN Joubert syndrome Meckel-Gruber syndrome
Reversed 0
HGVS NC_000008.10:g.94815904_94815916delATGAGTAATGTAAinsGG
CLNSRC
CLNACC RCV000458928.1,