BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Medulloblastoma ×
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: rs28897756
rs28897756 		0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs397507327
rs397507327 		0.776 0.280 13 32338598 stop gained G/A;T snv 4.1E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs397507404
rs397507404 		0.763 0.320 13 32370955 splice acceptor variant G/A;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs397508045
rs397508045 		0.763 0.320 13 32319101 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs41293497
rs41293497 		0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs41293511
rs41293511 		0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358391
rs80358391 		0.763 0.320 13 32319109 stop gained G/A;T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358427
rs80358427 		0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358435
rs80358435 		0.752 0.440 13 32319154 stop gained G/C;T snv 4.0E-06; 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358557
rs80358557 		0.763 0.320 13 32337464 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358721
rs80358721 		0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358785
rs80358785 		0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358807
rs80358807 		0.763 0.280 13 32340146 stop gained C/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358814
rs80358814 		0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358893
rs80358893 		0.763 0.320 13 32341011 stop gained C/G snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358920
rs80358920 		0.732 0.400 13 32346841 stop gained C/G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80358972
rs80358972 		0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80359014
rs80359014 		0.763 0.320 13 32362596 missense variant A/G;T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80359031
rs80359031 		0.763 0.320 13 32363190 missense variant A/T snv
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80359200
rs80359200 		0.752 0.320 13 32394726 stop gained C/A;G snv 8.0E-06
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80359212
rs80359212 		0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs80359604
rs80359604 		0.763 0.320 13 32329468 frameshift variant GT/- delins
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.700 0
dbSNP: rs144848
rs144848 		0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs80358638
rs80358638 		0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		Neoplasms 0.010 1.000 1 2003 2003