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
dbSNP: rs760325316
rs760325316
CEBPE
1 1.000 0.040 14 23118701 stop gained G/A snv 1.2E-05 0.700 0
dbSNP: rs758858068
rs758858068
ESR2 ; SYNE2
1 1.000 0.040 14 64225321 missense variant T/A;C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs763585589
rs763585589
ESR2 ; SYNE2
1 1.000 0.040 14 64219304 missense variant C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2018 2018