SNP Links for Gene (Select 7201) - SNP

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Select item 14915152421.

rs1491515242 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:109092423 (GRCh38)
8:110104653 (GRCh37)
Canonical SPDI:: NC_000008.11:109092423::A
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000065/9 (GnomAD)
HGVS:: NC_000008.11:g.109092423_109092424insA, NC_000008.10:g.110104652_110104653insA, NG_017161.1:g.9977_9978insA

Select item 14914139232.

rs1491413923 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT [Show Flanks]
Chromosome:: 8:109092424 (GRCh38)
8:110104653 (GRCh37)
Canonical SPDI:: NC_000008.11:109092422:TTTTT:T,NC_000008.11:109092422:TTTTT:TTT
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.109092424_109092427del, NC_000008.11:g.109092426_109092427del, NC_000008.10:g.110104653_110104656del, NC_000008.10:g.110104655_110104656del, NG_017161.1:g.9978_9981del, NG_017161.1:g.9980_9981del

Select item 14912667063.

rs1491266706 has merged into rs77744561 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 8:109093867 (GRCh38)
8:110106096 (GRCh37)
Canonical SPDI:: NC_000008.11:109093856:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:109093856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:109093856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:109093856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:109093856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:109093856:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.109093867_109093872del, NC_000008.11:g.109093870_109093872del, NC_000008.11:g.109093871_109093872del, NC_000008.11:g.109093872del, NC_000008.11:g.109093872dup, NC_000008.11:g.109093871_109093872dup, NC_000008.10:g.110106096_110106101del, NC_000008.10:g.110106099_110106101del, NC_000008.10:g.110106100_110106101del, NC_000008.10:g.110106101del, NC_000008.10:g.110106101dup, NC_000008.10:g.110106100_110106101dup, NG_017161.1:g.11421_11426del, NG_017161.1:g.11424_11426del, NG_017161.1:g.11425_11426del, NG_017161.1:g.11426del, NG_017161.1:g.11426dup, NG_017161.1:g.11425_11426dup

Select item 14912155414.

rs1491215541 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:109093857 (GRCh38)
8:110106087 (GRCh37)
Canonical SPDI:: NC_000008.11:109093857::T
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.109093857_109093858insT, NC_000008.10:g.110106086_110106087insT, NG_017161.1:g.11411_11412insT

Select item 14910599785.

rs1491059978 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:109086592 (GRCh38)
8:110098821 (GRCh37)
Canonical SPDI:: NC_000008.11:109086588:TCTCT:TCT
Gene:: TRHR (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TCT=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.109086590CT[1], NC_000008.10:g.110098819CT[1], NG_017161.1:g.4144CT[1], NM_003301.7:c.-382CT[1]

Select item 14910039206.

rs1491003920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:109118001 (GRCh38)
8:110130230 (GRCh37)
Canonical SPDI:: NC_000008.11:109118000:C:T
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.109118001C>T, NC_000008.10:g.110130230C>T, NG_017161.1:g.35555C>T

Select item 14909280467.

rs1490928046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:109117002 (GRCh38)
8:110129231 (GRCh37)
Canonical SPDI:: NC_000008.11:109117001:C:G,NC_000008.11:109117001:C:T
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109117002C>G, NC_000008.11:g.109117002C>T, NC_000008.10:g.110129231C>G, NC_000008.10:g.110129231C>T, NG_017161.1:g.34556C>G, NG_017161.1:g.34556C>T

Select item 14909203718.

rs1490920371 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:109100915 (GRCh38)
8:110113144 (GRCh37)
Canonical SPDI:: NC_000008.11:109100914:C:
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.109100915del, NC_000008.10:g.110113144del, NG_017161.1:g.18469del

Select item 14909158159.

rs1490915815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:109108266 (GRCh38)
8:110120495 (GRCh37)
Canonical SPDI:: NC_000008.11:109108265:C:G
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109108266C>G, NC_000008.10:g.110120495C>G, NG_017161.1:g.25820C>G

Select item 149088461210.

rs1490884612 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:109099861 (GRCh38)
8:110112090 (GRCh37)
Canonical SPDI:: NC_000008.11:109099860:T:C
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109099861T>C, NC_000008.10:g.110112090T>C, NG_017161.1:g.17415T>C

Select item 149087113811.

rs1490871138 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 8:109084190 (GRCh38)
8:110096419 (GRCh37)
Canonical SPDI:: NC_000008.11:109084189:C:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000029/4 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000008.11:g.109084190del, NC_000008.10:g.110096419del, NG_017161.1:g.1744del

Select item 149077110912.

rs1490771109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAT [Show Flanks]
Chromosome:: 8:109092424 (GRCh38)
8:110104654 (GRCh37)
Canonical SPDI:: NC_000008.11:109092424:T:TATAT
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0.000084/1 (ALFA)
TATA=0.000051/7 (GnomAD)
HGVS:: NC_000008.11:g.109092425_109092426insATAT, NC_000008.10:g.110104654_110104655insATAT, NG_017161.1:g.9979_9980insATAT

Select item 149071172813.

rs1490711728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:109089587 (GRCh38)
8:110101816 (GRCh37)
Canonical SPDI:: NC_000008.11:109089586:A:G,NC_000008.11:109089586:A:T
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
G=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000008.11:g.109089587A>G, NC_000008.11:g.109089587A>T, NC_000008.10:g.110101816A>G, NC_000008.10:g.110101816A>T, NG_017161.1:g.7141A>G, NG_017161.1:g.7141A>T

Select item 149055376514.

rs1490553765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:109109963 (GRCh38)
8:110122192 (GRCh37)
Canonical SPDI:: NC_000008.11:109109962:G:A
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.109109963G>A, NC_000008.10:g.110122192G>A, NG_017161.1:g.27517G>A

Select item 149042820615.

rs1490428206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:109101514 (GRCh38)
8:110113743 (GRCh37)
Canonical SPDI:: NC_000008.11:109101513:G:A
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000177/3 (TOMMO)
HGVS:: NC_000008.11:g.109101514G>A, NC_000008.10:g.110113743G>A, NG_017161.1:g.19068G>A

Select item 149042489116.

rs1490424891 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:109109754 (GRCh38)
8:110121983 (GRCh37)
Canonical SPDI:: NC_000008.11:109109753:A:G
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.109109754A>G, NC_000008.10:g.110121983A>G, NG_017161.1:g.27308A>G

Select item 149037978617.

rs1490379786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:109084750 (GRCh38)
8:110096979 (GRCh37)
Canonical SPDI:: NC_000008.11:109084749:C:T
Gene:: TRHR (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.109084750C>T, NC_000008.10:g.110096979C>T, NG_017161.1:g.2304C>T

Select item 149033731518.

rs1490337315 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:109093664 (GRCh38)
8:110105893 (GRCh37)
Canonical SPDI:: NC_000008.11:109093663:A:C
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109093664A>C, NC_000008.10:g.110105893A>C, NG_017161.1:g.11218A>C

Select item 148990529219.

rs1489905292 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:109100794 (GRCh38)
8:110113023 (GRCh37)
Canonical SPDI:: NC_000008.11:109100793:T:C
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.109100794T>C, NC_000008.10:g.110113023T>C, NG_017161.1:g.18348T>C

Select item 148989575120.

rs1489895751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:109088410 (GRCh38)
8:110100639 (GRCh37)
Canonical SPDI:: NC_000008.11:109088409:C:A
Gene:: TRHR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.109088410C>A, NC_000008.10:g.110100639C>A, NG_017161.1:g.5964C>A

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