CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: melanoma ×
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: rs121913409
rs121913409 		0.708 0.400 3 41224646 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 8 1997 2014
dbSNP: rs121913403
rs121913403 		0.683 0.240 3 41224622 missense variant C/A;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 7 1997 2004
dbSNP: rs121913407
rs121913407 		0.763 0.240 3 41224645 missense variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 7 1997 2004
dbSNP: rs28931588
rs28931588 		0.701 0.200 3 41224606 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 2 2009 2014
dbSNP: rs1057519837
rs1057519837 		1.000 0.040 3 41224631 missense variant C/G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913394
rs121913394 		1.000 0.040 3 41224549 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913395
rs121913395 		1.000 0.040 3 41224573 missense variant G/A snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913396
rs121913396 		0.732 0.200 3 41224607 missense variant A/C;G;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913416
rs121913416 		1.000 0.040 3 41224575 inframe deletion TTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG/- delins
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs121913417
rs121913417 		1.000 0.040 3 41224583 inframe deletion GGCAGCAACAGTCTTACCTGGACT/- delins
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs28931589
rs28931589 		0.695 0.240 3 41224613 missense variant G/A;C;T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs77064436
rs77064436 		1.000 0.040 3 41224577 missense variant T/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 1.000 1 2014 2014