BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: rs45580035
rs45580035 		0.790 0.240 13 32380043 missense variant C/T snv 1.2E-05
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 0
dbSNP: rs80358683
rs80358683 		0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 0
dbSNP: rs80359204
rs80359204 		1.000 0.040 13 32394741 missense variant A/G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.700 0
dbSNP: rs10492396
rs10492396 		0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs11571833
rs11571833 		0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1799944
rs1799944 		0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 < 0.001 1 2008 2008
dbSNP: rs206118
rs206118 		0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs759851035
rs759851035 		1.000 0.040 13 32394766 missense variant G/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs886040456
rs886040456 		0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 < 0.001 1 2008 2008