Source: CLINVAR ×
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: rs796051877
rs796051877
GAA
10 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
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: rs1057520529
rs1057520529
FOXP3
4 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0
dbSNP: rs1131692245
rs1131692245
NPHS1
7 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
dbSNP: rs113993959
rs113993959
CFTR
19 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs1555580263
rs1555580263
SMARCD2
6 0.827 0.240 17 63837200 stop gained -/AGGTAGAACCTTATCTGCCATCTTC delins 0.700 0
dbSNP: rs74597325
rs74597325
CFTR
16 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs76992529
rs76992529
TTR
10 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
dbSNP: rs879253740
rs879253740
NPC2 ; ISCA2
5 0.882 0.240 14 74493191 splice donor variant A/G snv 0.700 0