Source: CURATED

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: rs113560320
rs113560320
SDHAF2
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C1866552
Disease: PARAGANGLIOMAS 2 (disorder)
PARAGANGLIOMAS 2 (disorder) 		0.800 1.000 8 2010 2017
dbSNP: rs113560320
rs113560320
SDHAF2
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 9 1981 2017
dbSNP: rs113560320
rs113560320
SDHAF2
0.925 0.080 11 61437820 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2009 2017
dbSNP: rs749527870
rs749527870
SDHAF2
1.000 0.080 11 61437849 splice donor variant G/A snv
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 2 2012 2015
dbSNP: rs876658350
rs876658350
SDHAF2
11 61438090 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012
dbSNP: rs1554984631
rs1554984631
SDHAF2
1.000 0.080 11 61437764 frameshift variant -/T delins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs375280597
rs375280597
SDHAF2
11 61445939 splice acceptor variant A/G snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs753554501
rs753554501
SDHAF2
1.000 0.080 11 61438048 frameshift variant -/A ins 4.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs774508076
rs774508076
SDHAF2
1.000 0.080 11 61437753 stop gained G/A snv 2.0E-05
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0