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: rs267606621
rs267606621
0.882 0.080 16 70268356 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease
0.710 1.000 1 2012 2012
dbSNP: rs34087264
rs34087264
0.925 0.080 16 70289223 intron variant C/T snv 0.43
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 1.000 1 2015 2015
dbSNP: rs34087264
rs34087264
0.925 0.080 16 70289223 intron variant C/T snv 0.43
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 1.000 1 2015 2015