Source: ALL

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: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0008412
Disease: Choline Deficiency
Choline Deficiency 		0.010 1.000 1 2006 2006
dbSNP: rs12676
rs12676
CHDH
0.827 0.240 3 53823776 missense variant A/C;T snv 0.77
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.010 1.000 1 2017 2017