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: rs1555889738
rs1555889738
GSS ; MYH7B
1.000 0.080 20 34955722 splice region variant C/T snv
CUI: C0398746
Disease: Gluthathione synthetase deficiency
Gluthathione synthetase deficiency 		0.700 1.000 2 2003 2005
dbSNP: rs1430282035
rs1430282035
MYH7B
20 34996388 missense variant G/A snv 8.3E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs771172991
rs771172991
MYH7B
20 34987284 splice donor variant AG/- delins 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0