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rs1057519016

From SNPedia
ClinVar
Risk rs1057519016(-;-)
Alt rs1057519016(-;-)
Reference Rs1057519016(CCCCTGCGAGTTT;CCCCTGCGAGTTT)
Significance Pathogenic
Disease Benign familial neonatal seizures 1
Variation info
Gene KCNQ2
CLNDBN Benign familial neonatal seizures 1
Reversed 1
HGVS NC_000020.10:g.62045491_62045503delAAACTCGCAGGGG
CLNSRC
CLNACC RCV000020973.1,