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: rs1131692058
rs1131692058
1.000 0.080 7 140734769 splice acceptor variant TCTACA/- delins
Familial Hypertrophic Cardiomyopathy Type 4
0.700 0
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
ASTROCYTOMA, LOW-GRADE, SOMATIC
0.700 0
dbSNP: rs113488022
rs113488022
0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
Nongerminomatous Germ Cell Tumor
0.700 0
dbSNP: rs121913337
rs121913337
0.925 0.200 7 140753353 missense variant A/C;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs121913340
rs121913340
1.000 0.120 7 140753379 missense variant C/T snv
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.700 0
dbSNP: rs121913341
rs121913341
0.851 0.280 7 140753350 missense variant A/C;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.700 0
dbSNP: rs121913349
rs121913349
0.925 0.200 7 140781618 missense variant C/G;T snv
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder)
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1849667
Disease: Wide nasal base
Wide nasal base
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1854114
Disease: Short nose
Short nose
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0578038
Disease: Thin lips
Thin lips
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0431448
Disease: Absent eyebrow
Absent eyebrow
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
Increased anterioposterior diameter of thorax
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.700 0
dbSNP: rs121913355
rs121913355
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.700 0