Disease: Muscle hypotonia
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs137854562
NF1
0.925 0.120 17 31235623 stop gained C/T snv 4
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs146278035
ADGRG1
0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 4
rs148234606
SLC52A2
0.925 8 144360604 missense variant T/C snv 7.0E-05 7.7E-05 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1553749681
DOCK3
0.925 3 51064514 stop gained C/T snv 4
rs1554200990
GJA1
1.000 6 121446960 missense variant G/C snv 4
rs1554599036
CHD7
1.000 8 60828698 frameshift variant GAACACTGTGGAAGAAC/- del 4
rs1554698878
HNRNPK
0.925 9 83971976 stop gained G/A snv 4
rs1554770667
GRIN1
0.882 9 137163845 missense variant C/T snv 4
rs1555473499
CREBBP
0.925 0.120 16 3738605 missense variant A/G snv 4
rs1555899177
SON
1.000 21 33554005 frameshift variant ACTC/- del 4
rs1555902810
RBFOX2
1.000 22 35781685 frameshift variant -/A delins 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs1556026984
HPRT1
0.925 0.120 X 134475194 missense variant G/C snv 4
rs1556886034
SMC1A
0.925 0.080 X 53382594 missense variant C/T snv 4
rs1557082399
ATRX
1.000 X 77593803 stop gained C/T snv 4
rs386834124
CLN8
0.925 0.120 8 1771263 missense variant G/A snv 2.8E-05 1.4E-05 4
rs387907306
SKI
0.925 0.160 1 2228866 missense variant G/A;T snv 4
rs587777357
TUBB
0.925 6 30724263 missense variant G/A snv 4
rs587777695
ZSWIM6
0.925 0.120 5 61544156 missense variant C/T snv 4
rs587780586
SCN8A
0.882 0.160 12 51765675 missense variant G/A snv 4
rs746882521
PIGN
0.925 18 62143337 missense variant A/C snv 3.0E-05 4.9E-05 4
rs754320812
FBXL6 ; SLC52A2
0.925 8 144360427 missense variant T/C snv 2.4E-05 3.5E-05 4