Source: ALL
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: rs28933082
rs28933082
HOXD13
2 0.925 0.080 2 176094614 missense variant C/G;T snv 0.800 1.000 5 1996 2016
dbSNP: rs879255265
rs879255265
HOXD13
2 0.925 0.080 2 176094615 missense variant G/A snv 0.800 1.000 5 1996 2016
dbSNP: rs121912541
rs121912541
HOXD13
1 1.000 0.080 2 176093573 missense variant G/A;C;T snv 0.700 0
dbSNP: rs3832095
rs3832095
HOXD13
1 1.000 0.080 2 176093058 inframe insertion GGCGGCGGCGGC/-;GGC;GGCGGC;GGCGGCGGC;GGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC;GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC delins 0.700 0
dbSNP: rs764838478
rs764838478
HOXD13
1 1.000 0.080 2 176094478 splice acceptor variant A/- del 4.0E-06 0.700 0
dbSNP: rs786205567
rs786205567
IFT122
5 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
dbSNP: rs878854343
rs878854343
HOXD13
1 1.000 0.080 2 176093213 frameshift variant CAGCACCCACGCCT/- del 0.700 0
dbSNP: rs878854344
rs878854344
HOXD13
1 1.000 0.080 2 176094532 frameshift variant G/- del 0.700 0
dbSNP: rs878854400
rs878854400
HOXD13
1 1.000 0.080 2 176093632 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs886037831
rs886037831
HOXD13
1 1.000 0.080 2 176093672 splice donor variant G/A snv 0.700 0
dbSNP: rs886039814
rs886039814
WDR19
13 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
dbSNP: rs536639583
rs536639583
HOXD13
4 0.882 0.160 2 176092922 missense variant G/C snv 1.9E-04 6.7E-04 0.010 1.000 1 2012 2012