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: rs121908827
rs121908827
TMEM127
1.000 0.040 2 96254107 missense variant A/G snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 0 2010 2014
dbSNP: rs121908828
rs121908828
TMEM127
1.000 0.040 2 96254106 missense variant C/A;T snv 4.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.800 1.000 0 2010 2014
dbSNP: rs780133289
rs780133289
TMEM127
1.000 0.080 2 96254056 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 3 2010 2012
dbSNP: rs886039439
rs886039439
TMEM127
1.000 0.080 2 96254061 stop gained A/T snv 8.0E-06 2.8E-05
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 3 2010 2016
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 2 2010 2012
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2010 2012
dbSNP: rs121908821
rs121908821
TMEM127
0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 2 2010 2010
dbSNP: rs121908830
rs121908830
TMEM127
0.925 0.040 2 96254050 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2010 2010
dbSNP: rs1215337884
rs1215337884
TMEM127
2 96253955 frameshift variant G/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs121908814
rs121908814
CIAO1 ; TMEM127
0.925 0.040 2 96265379 start lost C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2010 2010
dbSNP: rs727503490
rs727503490
TMEM127
1.000 0.080 2 96254934 frameshift variant C/- delins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 1.000 1 2015 2015
dbSNP: rs886039439
rs886039439
TMEM127
1.000 0.080 2 96254061 stop gained A/T snv 8.0E-06 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2016 2016
dbSNP: rs121908813
rs121908813
CIAO1 ; TMEM127
1.000 0.040 2 96265399 5 prime UTR variant G/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908814
rs121908814
CIAO1 ; TMEM127
0.925 0.040 2 96265379 start lost C/A;T snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908815
rs121908815
CIAO1 ; TMEM127
1.000 0.040 2 96265306 stop gained G/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908816
rs121908816
CIAO1 ; TMEM127
0.925 0.080 2 96265262 frameshift variant ACAG/- delins 2.1E-05
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908817
rs121908817
CIAO1 ; TMEM127
0.925 0.040 2 96265232 frameshift variant -/T delins
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121908817
rs121908817
CIAO1 ; TMEM127
0.925 0.040 2 96265232 frameshift variant -/T delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908818
rs121908818
CIAO1 ; TMEM127
0.925 0.080 2 96265224 stop gained C/G;T snv 7.0E-06
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs121908821
rs121908821
TMEM127
0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs121908821
rs121908821
TMEM127
0.882 0.080 2 96254998 splice acceptor variant C/A;G snv 8.0E-06
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908822
rs121908822
TMEM127
0.925 0.080 2 96254974 frameshift variant TCTG/- delins
CUI: C1708353
Disease: Hereditary Paraganglioma-Pheochromocytoma Syndrome
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		0.700 0
dbSNP: rs121908822
rs121908822
TMEM127
0.925 0.080 2 96254974 frameshift variant TCTG/- delins
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908825
rs121908825
TMEM127
1.000 0.040 2 96254832 splice donor variant C/A snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.700 0
dbSNP: rs121908826
rs121908826
TMEM127
0.882 0.080 2 96254117 splice acceptor variant T/C;G snv
CUI: C3149711
Disease: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO 		0.700 0