rs1032242817, DHCR7

N. diseases: 17
Source: ALL
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.
Allanson Pantzar McLeod syndrome
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
23 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
High forehead
CUI: C0239676
Disease: High forehead
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Hypoplasia of the optic nerve
CUI: C0338502
Disease: Hypoplasia of the optic nerve
14 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Hypoplastic nasal tip
CUI: C1844731
Disease: Hypoplastic nasal tip
2 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Large earlobe
CUI: C1844573
Disease: Large earlobe
2 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Partial or complete agenesis of corpus callosum
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
6 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Persistent open anterior fontanelle
CUI: C1849537
Disease: Persistent open anterior fontanelle
2 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Pulmonary Stenosis
CUI: C1956257
Disease: Pulmonary Stenosis
40 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Short nose
CUI: C1854114
Disease: Short nose
23 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Smith-Lemli-Opitz Syndrome
CUI: C0175694
Disease: Smith-Lemli-Opitz Syndrome
96 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Thickened nuchal skin fold
CUI: C1836940
Disease: Thickened nuchal skin fold
4 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
Wide spaced nipples
CUI: C1827524
Disease: Wide spaced nipples
19 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0