Disease: Situs inversus totalis
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569162748
OFD1
0.925 0.120 X 13767142 frameshift variant AAATT/- del 7
rs770861172
DNAH7
0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 6
rs138890576
DNAH5
0.882 0.160 5 13844931 missense variant A/G snv 1.2E-05 7.0E-06 4
rs746242380
CCDC103 ; FAM187A
1.000 0.080 17 44902646 frameshift variant AGAG/-;AG;AGAGAG delins 1.6E-05 2.8E-05 4