FOXC2, forkhead box C2, 2303

N. diseases: 168; N. variants: 18
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: rs121909106
rs121909106
0.925 0.040 16 86567709 missense variant C/T snv
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.810 1.000 4 2000 2005
dbSNP: rs121909107
rs121909107
0.925 0.040 16 86567697 missense variant G/A snv
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.710 1.000 1 2005 2005
dbSNP: rs1043354227
rs1043354227
1.000 0.040 16 86567457 missense variant A/C;G;T snv 1.2E-05
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs104894516
rs104894516
1.000 0.040 16 86567632 stop gained C/G snv
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571065
rs1567571065
1.000 0.040 16 86567534 frameshift variant -/CT delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571075
rs1567571075
1.000 0.040 16 86567543 frameshift variant -/T delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571141
rs1567571141
1.000 0.040 16 86567624 frameshift variant GCATCTACCAG/- delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571184
rs1567571184
1.000 0.040 16 86567696 missense variant C/T snv
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571276
rs1567571276
1.000 0.040 16 86567840 frameshift variant A/- delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571345
rs1567571345
1.000 0.040 16 86567921 frameshift variant -/C delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571360
rs1567571360
1.000 0.040 16 86567937 protein altering variant CGGACGCCCCCAAGGAGGCCGAGAAGAAGGTGGTGATCAAGAGCGAGGCGGCGTCCCCGGCGCTGCCGGTCATCACCAAG/ACAAA delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571564
rs1567571564
1.000 0.040 16 86568249 frameshift variant ACGCCGCC/- del
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571636
rs1567571636
1.000 0.200 16 86568340 frameshift variant -/A delins
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571702
rs1567571702
1.000 0.040 16 86568423 frameshift variant -/GGCC delins
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571823
rs1567571823
1.000 0.040 16 86568540 missense variant C/T snv
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567571863
rs1567571863
1.000 0.040 16 86568593 stop gained C/T snv
CUI: C0265345
Disease: Lymphedema distichiasis syndrome
Lymphedema distichiasis syndrome
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1035550
rs1035550
1.000 0.040 16 86569101 3 prime UTR variant A/C;G;T snv
CUI: C0042345
Disease: Varicosity
Varicosity
Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs121909106
rs121909106
0.925 0.040 16 86567709 missense variant C/T snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121909107
rs121909107
0.925 0.040 16 86567697 missense variant G/A snv
CUI: C1704423
Disease: Milroy Disease
Milroy Disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs34221221
rs34221221
1.000 0.040 16 86566824 intron variant C/G;T snv
CUI: C0042345
Disease: Varicosity
Varicosity
Cardiovascular Diseases 0.010 1.000 1 2016 2016