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. 2021 Jun 18;106(11):e4680–e4687. doi: 10.1210/clinem/dgab440

Table 3.

Rare variants identified in the chromosome 10q locus, linked with AITD (GD + HT)

SNV Position T U P value Transcript Location of SNV Common allele Rare variant
AITD10.1001 58,194,262 0 9 0.0027 NM_152230:IPMK exonic C T
AITD10.1002 58,191,598 0 6 0.01431 NM_152230:IPMK exonic T A
AITD10.1003 58,192,372 0 6 0.01431 NM_152230:IPMK exonic A G
AITD10.1004 58,192,884 0 6 0.01431 NM_152230:IPMK exonic A G
AITD10.1005 58,193,478 0 6 0.01431 NM_152230:IPMK exonic C A
AITD10.1006 58,195,625 0 6 0.01431 NM_152230:IPMK exonic G A
AITD10.1007 58,193,779 1 8 0.01963 NM_152230:IPMK exonic C T
AITD10.1008 58,193,436 2 10 0.02092 NM_152230:IPMK exonic C T
AITD10.1009 58,191,617 0 5 0.02535 NM_152230:IPMK exonic A G
AITD10.1010 58,191,894 0 5 0.02535 NM_152230:IPMK exonic T C
AITD10.1011 58,195,907 0 5 0.02535 NM_152230:IPMK exonic G _
AITD10.1012 58,195,589 1 7 0.03389 NM_152230:IPMK exonic GT CC
AITD10.1013 58,195,995 1 7 0.03389 NM_152230:IPMK exonic A G

Abbreviations: SNV, single nucleotide variant; T, transmitted to affected offspring; U, untransmitted to affected offspring.