Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555630216
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1555648288
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs387906905
rs387906905
TRPV4
0.882 0.120 12 109798819 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 1.000 4 2010 2014
dbSNP: rs886040971
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
0.827 0.200 12 116007542 stop gained G/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs771237928
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs730882245
rs730882245
KIAA1109
0.827 0.160 4 122207168 stop gained T/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs7969148
rs7969148
RFLNA ; ZNF664-RFLNA
1.000 0.080 12 124129992 intron variant T/C snv 0.23
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.710 1.000 1 2014 2014
dbSNP: rs750195040
rs750195040
POMT1
0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1057518871
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs730882191
rs730882191
PITX1
1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs121909109
rs121909109
PITX1 ; C5orf66
1.000 0.080 5 135031290 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.810 1.000 2 2008 2012
dbSNP: rs121918130
rs121918130
INPP5E
0.716 0.360 9 136433182 missense variant G/A;T snv 3.4E-05; 4.2E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1135401744
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 1.000 1 2017 2017
dbSNP: rs780770356
rs780770356
PLOD2 ; LNCSRLR
0.851 0.120 3 146071125 stop gained G/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs778360818
rs778360818
PLOD2
0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1553827236
rs1553827236
CC2D2A
0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs386833760
rs386833760
CC2D2A
0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1553201258
rs1553201258
DARS2
0.807 0.160 1 173828312 non coding transcript exon variant TT/C delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs142433332
rs142433332
DARS2
0.807 0.160 1 173831632 splice donor variant T/A;C;G snv 8.0E-06; 3.3E-04; 4.0E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs61752129
rs61752129
PEX26
0.776 0.240 22 18078405 frameshift variant C/-;CC delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs118192174
rs118192174
RYR1
0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 1.000 1 2017 2017