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: rs797044897
rs797044897
19 41984940 missense variant T/C snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.700 1.000 27 1988 2017