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: rs1566600827
rs1566600827
1.000 14 65078021 frameshift variant T/- delins
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs387906649
rs387906649
0.925 0.040 14 65102339 start lost T/C snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs387906650
rs387906650
0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs387906651
rs387906651
0.925 0.080 14 65093782 stop gained G/A snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs786203385
rs786203385
1.000 14 65077912 splice donor variant C/T snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
0.700 0