Source: CURATED

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: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 13 2004 2016
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2004 2017
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2004 2013
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0004096
Disease: Asthma
Asthma 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0152459
Disease: Linear atrophy
Linear atrophy 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0262630
Disease: Reduced concentration span
Reduced concentration span 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0018681
Disease: Headache
Headache 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0029396
Disease: Heterotopic Ossification
Heterotopic Ossification 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0028754
Disease: Obesity
Obesity 		0.700 0
dbSNP: rs80359473
rs80359473
BRCA2
0.807 0.400 13 32339288 frameshift variant GAAA/- delins
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 0