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: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		0.700 1.000 1 2016 2016
dbSNP: rs1569151872
rs1569151872
TSPEAR-AS1 ; TSPEAR
0.851 0.240 21 44509225 frameshift variant GAC/AA delins
CUI: C0266039
Disease: Taurodontism
Taurodontism 		0.700 1.000 1 2016 2016
dbSNP: rs1555916009
rs1555916009
TSPEAR
1.000 21 44533770 frameshift variant CCAG/- del
CUI: C4749123
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS 		0.700 0
dbSNP: rs782540538
rs782540538
TSPEAR-AS1 ; TSPEAR
1.000 21 44509225 frameshift variant G/- del 3.2E-05 1.4E-05
CUI: C4749123
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS 		0.700 0