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: rs387906651
rs387906651
MAX ; LOC100506321
0.925 0.080 14 65093782 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2011 2017
dbSNP: rs1555340550
rs1555340550
MAX
1.000 0.080 14 65077980 frameshift variant C/- delins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 3 1992 1995
dbSNP: rs387906650
rs387906650
MAX
0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 3 2011 2013
dbSNP: rs387906651
rs387906651
MAX ; LOC100506321
0.925 0.080 14 65093782 stop gained G/A snv
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 3 2011 2017
dbSNP: rs387906650
rs387906650
MAX
0.925 0.080 14 65077985 stop gained G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2011 2013
dbSNP: rs876659610
rs876659610
MAX
14 65077996 missense variant A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2003 2012
dbSNP: rs786203385
rs786203385
MAX
1.000 14 65077912 splice donor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2011 2011
dbSNP: rs1060500101
rs1060500101
MAX
1.000 0.080 14 65077987 frameshift variant ACTGGATATAT/- delins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs1193255946
rs1193255946
MAX
1.000 0.080 14 65077989 stop gained A/G;T snv 1.4E-05
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs1555343169
rs1555343169
MAX ; LOC100506321
14 65093780 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1566600827
rs1566600827
MAX
1.000 14 65078021 frameshift variant T/- delins
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906649
rs387906649
MAX
0.925 0.040 14 65102339 start lost T/C snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906649
rs387906649
MAX
0.925 0.040 14 65102339 start lost T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs387906649
rs387906649
MAX
0.925 0.040 14 65102339 start lost T/C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs387906650
rs387906650
MAX
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
MAX ; LOC100506321
0.925 0.080 14 65093782 stop gained G/A snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs587781931
rs587781931
MAX
14 65077974 frameshift variant -/T delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs786203009
rs786203009
MAX ; LOC100506321
14 65093706 splice donor variant A/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs786203385
rs786203385
MAX
1.000 14 65077912 splice donor variant C/T snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs876660073
rs876660073
MAX
14 65076639 stop gained G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0