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: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4025690
Disease: Prenatal maternal abnormality
Prenatal maternal abnormality 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1866806
Disease: Unilateral ptosis
Unilateral ptosis 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0853087
Disease: Nail abnormality
Nail abnormality 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0007384
Disease: Cataplexy
Cataplexy 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C0426209
Disease: amniotic fluid meconium stained
amniotic fluid meconium stained 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1835117
Disease: Increased axial length of the globe
Increased axial length of the globe 		0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
0.701 0.560 10 76891709 missense variant T/C snv
CUI: C1849357
Disease: Abnormality of the aryepiglottic fold
Abnormality of the aryepiglottic fold 		0.700 0