Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518731
rs1057518731
SMARCD2
7 0.807 0.280 17 63833908 splice donor variant C/T snv 0.700 0
dbSNP: rs1057518733
rs1057518733
SMARCD2
7 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
dbSNP: rs1555580263
rs1555580263
SMARCD2
6 0.827 0.240 17 63837200 stop gained -/AGGTAGAACCTTATCTGCCATCTTC delins 0.700 0