Source: ALL

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: rs1114167453
rs1114167453
PPP1R13L
1.000 19 45385569 stop gained G/C snv
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.700 0
dbSNP: rs137854466
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0040427
Disease: Tooth Abnormalities
Tooth Abnormalities 		0.700 0