Gene: SMARCA4 ×
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: rs1555771571
rs1555771571
SMARCA4
2 1.000 0.040 19 11007932 stop gained C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs972341316
rs972341316
SMARCA4
2 1.000 0.040 19 10989339 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555763642
rs1555763642
SMARCA4
1 19 10996285 stop gained C/G;T snv 0.700 0
dbSNP: rs1555787120
rs1555787120
SMARCA4
2 1.000 0.040 19 11039467 frameshift variant GG/C delins 0.700 0