Source: CLINVAR

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: rs1555380716
rs1555380716
SLC12A6
0.882 0.120 15 34255385 frameshift variant -/C delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1557570794
rs1557570794
ARID1A
0.742 0.120 1 26697152 frameshift variant -/GCCGCCTCCCTCCTCCAGCGCC delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1556955128
rs1556955128
HUWE1
0.882 0.240 X 53573795 missense variant A/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs794727931
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 4 2002 2009
dbSNP: rs28933386
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 2 2001 2006
dbSNP: rs1554333853
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2017 2017
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs397507547
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs80338945
rs80338945
GJB2
0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs793888541
rs793888541
TFAP2A ; TFAP2A-AS2
0.807 0.120 6 10404631 missense variant A/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2015 2015
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
0.807 0.120 2 166002716 missense variant A/T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1555350397
rs1555350397
OTX2
0.827 0.200 14 56804268 frameshift variant ACA/CC delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1057519334
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1564919048
rs1564919048
FGFR2
0.732 0.280 10 121520106 missense variant C/A snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs121913355
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs397507539
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1034395178
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 1 2018 2018
dbSNP: rs121908425
rs121908425
CRMP1 ; EVC
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs397507540
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs80338701
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1057519946
rs1057519946
PPP2R1A
0.732 0.280 19 52212729 missense variant C/G;T snv
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs1554691658
rs1554691658
PTCH1
0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT delins
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 0
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0239234
Disease: Low set ears
Low set ears 		0.700 1.000 2 2004 2008