rs113993992, SBDS

N. diseases: 3
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 syndrome
CUI: C0272170
Disease: Shwachman syndrome
13 0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05 0.700 1.000 5 2003 2014
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05 0.700 0
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
14 0.882 0.040 7 66994211 splice donor variant C/G snv 4.0E-06 2.1E-05 0.700 0