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

rs1057516841

From SNPedia
ClinVar
Risk rs1057516841(-;-)
Alt rs1057516841(-;-)
Reference Rs1057516841(CTATAG;CTATAG)
Significance Probable-Pathogenic
Disease Cohen syndrome
Variation info
Gene VPS13B
CLNDBN Cohen syndrome
Reversed 0
HGVS NC_000008.10:g.100711748_100711753delTATAGC
CLNSRC
CLNACC RCV000410909.1,