Source: CURATED

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: rs1488635637
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.700 0