Source: BEFREE

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: rs751478142
rs751478142
HSPA9 ; LOC105379193
1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.810 1.000 1 2019 2019
dbSNP: rs765368797
rs765368797
HSPA9 ; LOC105379193
1.000 5 138570987 missense variant T/C snv 4.0E-06
CUI: C4225180
Disease: EVEN-PLUS SYNDROME
EVEN-PLUS SYNDROME 		0.810 1.000 1 2015 2019
dbSNP: rs201894482
rs201894482
HSPA9
5 138557977 missense variant G/A snv 6.0E-05 2.1E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2015 2015
dbSNP: rs751478142
rs751478142
HSPA9 ; LOC105379193
1.000 5 138570994 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 < 0.001 1 2015 2015