Source: CURATED

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: rs142698837
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.700 0
dbSNP: rs142698837
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C0342194
Disease: Thyroid Dyshormonogenesis 3
Thyroid Dyshormonogenesis 3 		0.700 0
dbSNP: rs142698837
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.700 0
dbSNP: rs142698837
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs142698837
rs142698837
TG
0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04
CUI: C0018022
Disease: Endemic goiter
Endemic goiter 		0.700 0