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: rs137853066
rs137853066
KCNJ10
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.800 1.000 0 2009 2014
dbSNP: rs137853068
rs137853068
KCNJ10
1.000 0.200 1 160042115 missense variant A/G snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.800 1.000 0 2009 2014
dbSNP: rs137853069
rs137853069
KCNJ10
1.000 0.200 1 160042042 missense variant G/A snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.800 1.000 0 2009 2014
dbSNP: rs137853070
rs137853070
KCNJ10
1.000 0.200 1 160042033 missense variant G/A snv 9.6E-06 7.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.800 1.000 0 2009 2014
dbSNP: rs137853071
rs137853071
KCNJ10
1.000 0.200 1 160041644 missense variant G/A snv 4.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.800 1.000 0 2009 2014
dbSNP: rs137853072
rs137853072
KCNJ10
1.000 0.200 1 160042304 missense variant C/G snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.800 1.000 0 2009 2014
dbSNP: rs137853067
rs137853067
KCNJ10
1.000 0.200 1 160041938 stop gained G/A snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.700 0
dbSNP: rs138943405
rs138943405
KCNJ10
1.000 0.200 1 160042457 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.700 0
dbSNP: rs1557967748
rs1557967748
KCNJ10
1.000 0.200 1 160041758 frameshift variant C/- delins
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.700 0
dbSNP: rs387906834
rs387906834
KCNJ10
1.000 0.200 1 160042340 missense variant G/A;T snv 4.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.700 0
dbSNP: rs757159382
rs757159382
KCNJ10
1.000 0.200 1 160042308 missense variant A/C;G snv 4.4E-05
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		0.700 0