Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908602
rs121908602
1.000 0.040 8 105561395 stop gained C/T snv 7.0E-06
CUI: C1857781
Disease: Diaphragmatic Hernia 3
Diaphragmatic Hernia 3
Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs121908604
rs121908604
0.925 0.080 8 105802609 missense variant A/G snv
CUI: C1857781
Disease: Diaphragmatic Hernia 3
Diaphragmatic Hernia 3
Pathological Conditions, Signs and Symptoms 0.700 0