rs370866589, SMOC1

N. diseases: 7
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.
Waardenburg Anophthalmia Syndrome
CUI: C0599973
Disease: Waardenburg Anophthalmia Syndrome
10 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.710 1.000 1 2019 2019
Abnormality of the upper limb
CUI: C4020900
Disease: Abnormality of the upper limb
4 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
Deformity of lower limb
CUI: C1096086
Disease: Deformity of lower limb
5 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
Foot oligodactyly
CUI: C4281601
Disease: Foot oligodactyly
1 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
40 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
Osseous ankylosis
CUI: C0332790
Disease: Osseous ankylosis
1 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0
True anophthalmia
CUI: C2675590
Disease: True anophthalmia
1 0.851 0.120 14 69952261 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 0