rs113993993, SBDS

N. diseases: 9
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.
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
14 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 1.000 10 2003 2015
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
13 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 1.000 4 2003 2013
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
2 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
19 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
Tooth absent
CUI: C0457756
Disease: Tooth absent
6 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0