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: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1568486679
rs1568486679
SMARCA4
5 0.882 0.080 19 11021755 missense variant G/A snv 0.700 0
dbSNP: rs1569309484
rs1569309484
RLIM
13 0.807 0.200 X 74591586 missense variant A/G snv 0.700 0
dbSNP: rs201037487
rs201037487
FAM98C
7 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0