Disease: SINGLETON-MERTEN SYNDROME 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs376048533
rs376048533 		0.851 0.240 2 162272377 missense variant C/T snv 2.8E-05
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.800 1.000 2 2015 2017
dbSNP: rs1553696482
rs1553696482 		0.925 2 162267342 missense variant A/C snv
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.700 0
dbSNP: rs1558875029
rs1558875029 		0.925 2 162306761 frameshift variant -/C delins
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.700 0
dbSNP: rs587777446
rs587777446 		0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.700 0
dbSNP: rs923064561
rs923064561 		0.925 2 162288244 missense variant A/C;G snv
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
SINGLETON-MERTEN SYNDROME 1 		0.700 0