C1QBP, complement C1q binding protein, 708

N. diseases: 111; N. variants: 9
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: rs1555532483
rs1555532483
1.000 17 5433040 missense variant A/G snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 1.000 1 2017 2017
dbSNP: rs1555532484
rs1555532484
1.000 17 5433041 missense variant G/A snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 1.000 1 2017 2017
dbSNP: rs748497469
rs748497469
1.000 17 5433688 missense variant C/G snv 4.0E-06 2.1E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 0
dbSNP: rs767427194
rs767427194
1.000 17 5433380 missense variant G/C snv 2.4E-05 2.8E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.800 0
dbSNP: rs1394499137
rs1394499137
1.000 17 5433125 missense variant C/A;G snv 4.0E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.700 0
dbSNP: rs755568057
rs755568057
1.000 17 5433681 inframe deletion AAT/- delins 8.0E-06 2.1E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33
0.700 0
dbSNP: rs2285747
rs2285747
0.925 0.080 17 5433817 non coding transcript exon variant G/C snv 0.32 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2285747
rs2285747
0.925 0.080 17 5433817 non coding transcript exon variant G/C snv 0.32 0.23
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2472614
rs2472614
17 5437730 intron variant G/C;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms
Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3786054
rs3786054
0.882 0.080 17 5435739 intron variant G/A snv 0.19
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3786054
rs3786054
0.882 0.080 17 5435739 intron variant G/A snv 0.19
CUI: C2062441
Disease: Influenza A
Influenza A
0.010 1.000 1 2019 2019
dbSNP: rs3786054
rs3786054
0.882 0.080 17 5435739 intron variant G/A snv 0.19
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017