Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057520700
rs1057520700
WAS
1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0025222
Disease: Melena
Melena 		0.700 0
dbSNP: rs1057520700
rs1057520700
WAS
1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		0.700 0
dbSNP: rs1057520700
rs1057520700
WAS
1.000 0.120 X 48685634 splice donor variant G/A;C;T snv
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0