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: rs1567564042
rs1567564042
MYH3
0.827 0.120 17 10654924 stop gained A/C snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs557849165
rs557849165
MYH3
0.776 0.160 17 10656089 splice donor variant C/T snv 1.2E-03
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0