TMC6, transmembrane channel like 6, 11322

N. diseases: 41; N. variants: 17
Disease: Epidermodysplasia Verruciformis ×
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: rs1567989416
rs1567989416 		1.000 0.080 17 78119296 splice donor variant C/T snv
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		Infections; Skin and Connective Tissue Diseases 0.700 1.000 2 2004 2007
dbSNP: rs769471844
rs769471844 		1.000 0.080 17 78124181 splice acceptor variant T/A snv 4.0E-06
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		Infections; Skin and Connective Tissue Diseases 0.700 1.000 2 2004 2007
dbSNP: rs1555655146
rs1555655146 		1.000 0.080 17 78121613 frameshift variant -/A delins
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1567997496
rs1567997496 		1.000 0.080 17 78123933 splice donor variant TGAATGGATGGATGAGTGGAGCTCGGAGCCTGGGTCATGAGGTGGAGGCATTACCTGTACACCAGGGTGATGCAGGTGATAAAGAAGCTCACGCCCACAGTGGAGAGGTAGGCCAGGGGCATGTTGTAGGGCAGGCCACCCACCCTGGGTGTGCACTGGCTGCCATCCAGGGGGCTGCCACACGGCTGGTTCAGCGTGGCGTTACTGTAGTGGCCGTAGTACATGACGGTGTGGGTGAAGCAACCCTGCCACAGGGAGATCCAGCCGAGTCAGGGACTTTCCCCACGCCCCACCCGACCCTCAGGCCTGACAGCCACAGGGGCAGAGCAGGAGGAGGCCAGGCAGGGGCAGTGAGGGAAACAGGGAGGGGCCTTGGCCACAGCAATCTTGGGCCTCCAGCCCCATGGGAACCCCAGCACGATGAGCATCCAGGGTCATTGAGGGGGAGGCGGGGAGCTGGCTGTGGCCACCTGGAGTCACAGCGGGGCAAGGGTTGGGGGCCCCAGGGGAGCTGGGACAAGAAGGGAACACGGTACCAGGGTAGCAGAAGACAGGCACCCCCCGTCCCCCAGTCCTAGGGCTTCCTCACCGCGCCTGTGAGGAGCTCCAGGCCTGTGCAGACGGGGGCAGGGCCCGGCAGGGCGGGTGGGAAGGCGACCTGAGGGCCCATGATGAAGGCCACCAGCAGCAGCAGCAGGAGGGCATTGAAAGCCAGCAGGGTCTTGAGAAAGAGGA/- delins
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs12449858
rs12449858 		1.000 0.080 17 78125237 missense variant G/A snv 0.13 9.0E-02
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1328913192
rs1328913192 		1.000 0.080 17 78132796 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006