Source: ALL

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: 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: 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: 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: rs587781773
rs587781773
TMEM127
2 96254994 frameshift variant A/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0