Source: ALL

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: rs868853
rs868853
ABCC4 ; LOC102724149
1.000 0.120 13 95302822 upstream gene variant C/T snv 0.85
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs9524862
rs9524862
ABCC4
13 95242373 intron variant G/A snv 0.55
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs9524885
rs9524885
ABCC4
13 95283335 intron variant T/C snv 0.63
CUI: C0015672
Disease: Fatigue
Fatigue 		0.010 1.000 1 2012 2012
dbSNP: rs9524885
rs9524885
ABCC4
13 95283335 intron variant T/C snv 0.63
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2012 2012
dbSNP: rs9556465
rs9556465
ABCC4
13 95205263 intron variant G/T snv 3.4E-03
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9556465
rs9556465
ABCC4
13 95205263 intron variant G/T snv 3.4E-03
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 1.000 1 2009 2009
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2009 2009
dbSNP: rs9561778
rs9561778
ABCC4
0.851 0.120 13 95061461 intron variant G/A;T snv
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 1.000 1 2009 2009
dbSNP: rs9590177
rs9590177
ABCC4
13 95083956 intron variant C/T snv 3.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9590177
rs9590177
ABCC4
13 95083956 intron variant C/T snv 3.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs9590225
rs9590225
ABCC4
1.000 0.080 13 95263947 intron variant C/T snv 1.9E-02
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.700 1.000 1 2013 2013