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: rs121434578
rs121434578
ABAT
1.000 0.080 16 8768248 missense variant G/A snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
1.000 0.080 16 8781360 missense variant T/C snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 1.000 1 2010 2010
dbSNP: rs724159990
rs724159990
ABAT
1.000 0.080 16 8768220 missense variant C/T snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.700 0