Source: BEFREE

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: rs10492396
rs10492396
BRCA2
0.925 0.080 13 32384750 non coding transcript exon variant G/A snv 4.8E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs11571833
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2016 2016
dbSNP: rs1799944
rs1799944
BRCA2
0.882 0.080 13 32337326 missense variant A/G snv 5.4E-02 4.5E-02
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008
dbSNP: rs206118
rs206118
BRCA2
0.925 0.080 13 32315655 5 prime UTR variant A/C;G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2015 2015
dbSNP: rs759851035
rs759851035
BRCA2
1.000 0.040 13 32394766 missense variant G/A snv 4.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		0.010 1.000 1 2018 2018
dbSNP: rs886040456
rs886040456
BRCA2
0.882 0.200 13 32337325 frameshift variant AACAAATGGGCAG/- delins
CUI: C0025202
Disease: melanoma
melanoma 		0.010 < 0.001 1 2008 2008