Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562171209
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.700 0