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: rs281875322
rs281875322
SMAD4
0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.820 1.000 1 2011 2020
dbSNP: rs281875320
rs281875320
SMAD4
1.000 0.320 18 51078308 missense variant A/G snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 1.000 1 2011 2012
dbSNP: rs281875321
rs281875321
SMAD4
0.925 0.360 18 51078307 missense variant T/C snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.800 1.000 1 2011 2012
dbSNP: rs397518413
rs397518413
SMAD4
0.882 0.400 18 51078294 missense variant C/T snv 8.0E-06
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.710 1.000 2 2014 2019
dbSNP: rs1555686624
rs1555686624
SMAD4
0.882 0.480 18 51067189 splice donor variant T/C snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.700 0
dbSNP: rs377767347
rs377767347
SMAD4
0.742 0.520 18 51065549 missense variant G/A;C;T snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.700 0
dbSNP: rs80338965
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		0.700 0