rs142684762, ADGRG1

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 1.000 16 57659478 missense variant A/G snv 0.700 1.000 10 2003 2015
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
240 1.000 16 57659478 missense variant A/G snv 0.700 1.000 10 2003 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 16 57659478 missense variant A/G snv 0.700 1.000 10 2003 2015