rs80359473, BRCA2

N. diseases: 12
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 1.000 13 2004 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 1.000 10 2004 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 1.000 4 2004 2013
Asthma
CUI: C0004096
Disease: Asthma
1536 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Heterotopic Ossification
CUI: C0029396
Disease: Heterotopic Ossification
2 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Linear atrophy
CUI: C0152459
Disease: Linear atrophy
6 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Obesity
CUI: C0028754
Disease: Obesity
1111 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0
Reduced concentration span
CUI: C0262630
Disease: Reduced concentration span
2 0.807 0.400 13 32339288 frameshift variant GAAA/- delins 0.700 0