rs765379963, TMCO1

N. diseases: 19
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the sternum
CUI: C1860493
Disease: Abnormality of the sternum
11 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
181 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Bilateral cleft lip
CUI: C0392005
Disease: Bilateral cleft lip
1 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Bilateral cleft palate
CUI: C3553084
Disease: Bilateral cleft palate
1 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Cleft palate and bilateral cleft lip
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
7 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Congenital absence of kidney
CUI: C0542519
Disease: Congenital absence of kidney
3 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Congenital fusion of ribs
CUI: C0265695
Disease: Congenital fusion of ribs
2 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Congenital hemivertebra
CUI: C0265677
Disease: Congenital hemivertebra
3 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
48 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
38 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
120 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Sensorineural Hearing Loss (disorder)
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
44 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Severe visual impairment
CUI: C1301509
Disease: Severe visual impairment
5 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
85 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Unilateral agenesis of kidney
CUI: C0266294
Disease: Unilateral agenesis of kidney
6 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
24 0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 0.700 0