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

rs1060501383

From SNPedia

ClinVar
Risk rs1060501383(CCCCC;CCCCC)
Alt rs1060501383(CCCCC;CCCCC)
Reference Rs1060501383(GCCCCT;GCCCCT)
Significance Pathogenic
Disease Baller-Gerold syndrome not provided
Variation info
Gene RECQL4
CLNDBN Baller-Gerold syndrome not provided
Reversed 1
HGVS NC_000008.10:g.145740367_145740372delAGGGGCinsGGGGG
CLNSRC
CLNACC RCV000462359.1, RCV000478302.1,