PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Malignant neoplasm of breast ×
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: rs1218512317
rs1218512317 		1.000 0.080 16 23607890 stop gained G/C;T snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1257545151
rs1257545151 		1.000 0.080 16 23635403 frameshift variant AAGA/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs139555085
rs139555085 		1.000 0.080 16 23636146 missense variant C/T snv 3.0E-04 1.6E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1485260432
rs1485260432 		1.000 0.080 16 23635515 frameshift variant T/- delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555458187
rs1555458187 		1.000 0.080 16 23607907 frameshift variant -/GCTGAGAG delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555458815
rs1555458815 		1.000 0.080 16 23614045 frameshift variant ATCA/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459520
rs1555459520 		1.000 0.080 16 23622989 frameshift variant -/AT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459540
rs1555459540 		1.000 0.080 16 23623027 frameshift variant T/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459553
rs1555459553 		1.000 0.080 16 23623050 frameshift variant A/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459709
rs1555459709 		1.000 0.080 16 23624025 frameshift variant C/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459949
rs1555459949 		1.000 0.080 16 23626290 stop gained C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459954
rs1555459954 		1.000 0.080 16 23626297 frameshift variant -/A delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555459999
rs1555459999 		1.000 0.080 16 23626352 stop gained C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460315
rs1555460315 		1.000 0.080 16 23629673 frameshift variant GT/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460325
rs1555460325 		1.000 0.080 16 23629691 frameshift variant ATTTTCTT/- del
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460334
rs1555460334 		1.000 0.080 16 23629723 frameshift variant AG/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460360
rs1555460360 		1.000 0.080 16 23629763 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460445
rs1555460445 		0.925 0.200 16 23629936 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460564
rs1555460564 		1.000 0.080 16 23630187 frameshift variant -/GAAAAATACAGCTTCCCTCT delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555460682
rs1555460682 		1.000 0.080 16 23630429 frameshift variant C/-;CC delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555461154
rs1555461154 		1.000 0.080 16 23634871 stop gained G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555461217
rs1555461217 		1.000 0.080 16 23634981 frameshift variant G/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555461253
rs1555461253 		1.000 0.080 16 23635056 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555461256
rs1555461256 		1.000 0.080 16 23635061 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555461278
rs1555461278 		1.000 0.080 16 23635106 frameshift variant T/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0