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

rs1057516956

From SNPedia
ClinVar
Risk rs1057516956(-;-)
Alt rs1057516956(-;-)
Reference Rs1057516956(CAAGGAAGGTCGGC;CAAGGAAGGTCGGC)
Significance Probable-Pathogenic
Disease Bloom syndrome
Variation info
Gene BLM
CLNDBN Bloom syndrome
Reversed 0
HGVS NC_000015.9:g.91304367_91304380delGGAAGGTCGGCCAA
CLNSRC
CLNACC RCV000410100.1,