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: rs189261858
rs189261858
TSHR ; LOC101928462
0.776 0.160 14 81143407 missense variant G/A;T snv 2.3E-04
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.740 1.000 16 2001 2017
dbSNP: rs786204790
rs786204790
TSHR ; LOC101928462
1.000 0.120 14 81092608 splice donor variant TG/- delins 1.4E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 1.000 1 2013 2013
dbSNP: rs1057518345
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs1057518950
rs1057518950
TPO
0.851 0.280 2 1484815 missense variant C/T snv
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs530719719
rs530719719
DUOX2
0.882 0.120 15 45101228 frameshift variant ACGA/- delins 2.9E-03 2.6E-03
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs560702757
rs560702757
TUBB1
1.000 0.120 20 59023745 stop gained C/G;T snv 4.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs752746786
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs759117911
rs759117911
TUBB1
1.000 0.120 20 59023906 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0
dbSNP: rs773248042
rs773248042
TUBB1
1.000 0.120 20 59019557 frameshift variant G/- del 5.6E-05
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		0.700 0