Source: BEFREE

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: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 < 0.001 1 2007 2007
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
Childhood Myelodysplastic Syndrome
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Cleft Lip with or without Cleft Palate
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 1.000 1 2008 2008
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.020 1.000 2 2008 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C1336708
Disease: Testicular Germ Cell Tumor
Testicular Germ Cell Tumor
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0024530
Disease: Malaria
Malaria
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Familial multiple trichoepitheliomata
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0403447
Disease: Chronic Kidney Insufficiency
Chronic Kidney Insufficiency
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 1.000 1 2009 2009
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0043144
Disease: Wheezing
Wheezing
0.020 1.000 2 2008 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C4744564
Disease: Metastatic Colorectal Carcinoma
Metastatic Colorectal Carcinoma
0.020 1.000 2 2007 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0264408
Disease: Childhood asthma
Childhood asthma
0.020 1.000 2 2007 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0858321
Disease: Plasmodium vivax infection
Plasmodium vivax infection
0.010 < 0.001 1 2010 2010
dbSNP: rs1695
rs1695
0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.010 1.000 1 2010 2010