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: 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: 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: rs730882191
rs730882191
PITX1
1.000 0.080 5 135028925 frameshift variant GCCGTACGGGCAAGCGCCCGGCGACATGGCCGAGT/- delins
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: rs1057518871
rs1057518871
COL5A1
0.925 0.120 9 134798410 frameshift variant C/- delins
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs1470699812
rs1470699812
FLNB
0.925 0.120 3 58143562 inframe deletion AGG/- delins 8.0E-06
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: 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: rs759244819
rs759244819
ALG12
0.882 0.120 22 49904498 frameshift variant T/- delins 2.8E-05
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs761221480
rs761221480
ALG12
0.882 0.120 22 49913649 frameshift variant C/- del 1.6E-05 7.0E-06
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
dbSNP: rs771785420
rs771785420
GAN
0.851 0.120 16 81357848 missense variant C/G;T snv 4.0E-06
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: 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: 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: 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: rs1554846212
rs1554846212
KAT6B ; DUPD1
0.851 0.160 10 75030037 missense variant C/T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.700 0
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: 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: 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: 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: 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: 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: rs1555575860
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv
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