Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1555545033
rs1555545033
0.807 0.160 17 40088306 missense variant C/T snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 1.000 4 2012 2015
dbSNP: rs137853162
rs137853162
1.000 17 40077520 missense variant G/T snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs137853163
rs137853163
1.000 17 40089333 missense variant G/C snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs876657394
rs876657394
1.000 17 40089399 stop gained C/A snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs876657395
rs876657395
1.000 17 40089430 missense variant G/A snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs876657396
rs876657396
1.000 17 40089416 missense variant C/G snv
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0
dbSNP: rs199530759
rs199530759
1.000 17 40076870 splice acceptor variant G/A snv 8.8E-05 7.7E-05
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6
0.700 0