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: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C0376480
Disease: Gingival Overgrowth
Gingival Overgrowth 		0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C3277940
Disease: Generalized hypertrichosis
Generalized hypertrichosis 		0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1189909394
rs1189909394
KCNK4 ; KCNK4-TEX40
11 64298178 missense variant G/A;C snv 7.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0