Disease: Thin upper lip vermilion
Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 32
rs1558373252
LINC01248 ; SOX11
0.790 0.120 2 5693013 frameshift variant T/- delins 19
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv 9