rs149660944, CHST8

N. diseases: 5
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.
PEELING SKIN SYNDROME 3
CUI: C4015729
Disease: PEELING SKIN SYNDROME 3
1 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.700 0
PEELING SKIN SYNDROME
CUI: C1849193
Disease: PEELING SKIN SYNDROME
11 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.020 1.000 2 2012 2017
Chromosome 11p11.2 Deletion Syndrome
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
6 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2012 2012
Skin Diseases, Genetic
CUI: C0037277
Disease: Skin Diseases, Genetic
6 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2017 2017
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
287 0.851 0.200 19 33772017 missense variant C/A;T snv 6.5E-05; 4.0E-03 0.010 1.000 1 2012 2012