Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO ×
Source: ALL
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: rs387906696
rs387906696 		9 99128891 missense variant A/G snv 8.0E-06 2.8E-05
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2011 2011
dbSNP: rs111426349
rs111426349 		0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs387906697
rs387906697 		1.000 9 99146594 stop gained C/T snv
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs587776865
rs587776865 		9 99128911 missense variant G/C snv
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs587776866
rs587776866 		9 99142534 splice acceptor variant A/C snv
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs757374917
rs757374917 		9 99129005 missense variant C/T snv
CUI: C4083047
Disease: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO 		0.700 0