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: rs104886003
rs104886003
0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs397514565
rs397514565
0.882 0.240 3 179204576 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs863225460
rs863225460
0.882 0.200 3 179199160 missense variant T/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 2 2012 2016
dbSNP: rs587776932
rs587776932
0.925 0.280 3 179230077 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 1 2012 2012
dbSNP: rs121913281
rs121913281
0.623 0.520 3 179234296 missense variant C/T snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 0
dbSNP: rs1064793732
rs1064793732
0.882 0.320 3 179204536 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2012 2016
dbSNP: rs397517202
rs397517202
0.851 0.320 3 179234230 missense variant A/G snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 2 2012 2016
dbSNP: rs1057519925
rs1057519925
0.683 0.560 3 179210291 missense variant G/A;C snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1057519929
rs1057519929
0.776 0.320 3 179199066 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913277
rs121913277
0.925 0.280 3 179234302 missense variant G/A;C snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913283
rs121913283
0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913287
rs121913287
0.752 0.400 3 179199088 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs121913288
rs121913288
1.000 0.200 3 179234219 missense variant A/G snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1242945375
rs1242945375
1.000 0.200 3 179234261 missense variant C/T snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587776933
rs587776933
1.000 0.200 3 179210290 inframe deletion AGA/- delins
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs867262025
rs867262025
0.790 0.360 3 179221146 missense variant G/A snv
Megalencephaly cutis marmorata telangiectatica congenita
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0