SNP Links for Gene (Select 10716) - SNP

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Items: 1 to 20 of 2851

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Select item 14909769991.

rs1490976999 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTAA>- [Show Flanks]
Chromosome:: 2:161420954 (GRCh38)
2:162277465 (GRCh37)
Canonical SPDI:: NC_000002.12:161420949:TTAATTAA:TTAA
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAATTAA=0.000071/1 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.161420950TTAA[1], NC_000002.11:g.162277461TTAA[1], NG_046904.1:g.9842TTAA[1]

Select item 14898596282.

rs1489859628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:161420443 (GRCh38)
2:162276954 (GRCh37)
Canonical SPDI:: NC_000002.12:161420442:G:T
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00548/89 (ALFA)
T=0.00231/39 (TOMMO)
T=0.0025/16 (1000Genomes)
T=0.00715/13 (Korea1K)
T=0.01507/44 (KOREAN)
T=0.02104/92 (Estonian)
HGVS:: NC_000002.12:g.161420443G>T, NC_000002.11:g.162276954G>T, NG_046904.1:g.9335G>T

Select item 14898338763.

rs1489833876 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:161421541 (GRCh38)
2:162278052 (GRCh37)
Canonical SPDI:: NC_000002.12:161421540:G:A,NC_000002.12:161421540:G:T
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.161421541G>A, NC_000002.12:g.161421541G>T, NC_000002.11:g.162278052G>A, NC_000002.11:g.162278052G>T, NG_046904.1:g.10433G>A, NG_046904.1:g.10433G>T

Select item 14895037694.

rs1489503769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:161423949 (GRCh38)
2:162280460 (GRCh37)
Canonical SPDI:: NC_000002.12:161423948:G:A
Gene:: TBR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.161423949G>A, NC_000002.11:g.162280460G>A, NG_046904.1:g.12841G>A, NM_006593.4:c.1771G>A, NM_006593.3:c.1771G>A, NM_006593.2:c.1771G>A, NP_006584.1:p.Ala591Thr

Select item 14893988225.

rs1489398822 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC [Show Flanks]
Chromosome:: 2:161423298 (GRCh38)
2:162279810 (GRCh37)
Canonical SPDI:: NC_000002.12:161423298:CCCCC:CCCCCC,NC_000002.12:161423298:CCCCC:CCCCCCC
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0.00022/1 (ALFA)
C=0.00007/1 (TOMMO)
C=0.00022/1 (Estonian)
HGVS:: NC_000002.12:g.161423303dup, NC_000002.12:g.161423302_161423303dup, NC_000002.11:g.162279814dup, NC_000002.11:g.162279813_162279814dup, NG_046904.1:g.12195dup, NG_046904.1:g.12194_12195dup

Select item 14892102986.

rs1489210298 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATT>- [Show Flanks]
Chromosome:: 2:161422343 (GRCh38)
2:162278854 (GRCh37)
Canonical SPDI:: NC_000002.12:161422340:TTGATT:TT
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.161422343_161422346del, NC_000002.11:g.162278854_162278857del, NG_046904.1:g.11235_11238del

Select item 14890308247.

rs1489030824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:161417641 (GRCh38)
2:162274152 (GRCh37)
Canonical SPDI:: NC_000002.12:161417640:C:G,NC_000002.12:161417640:C:T
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00356/32 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.161417641C>G, NC_000002.12:g.161417641C>T, NC_000002.11:g.162274152C>G, NC_000002.11:g.162274152C>T, NG_046904.1:g.6533C>G, NG_046904.1:g.6533C>T

Select item 14889420828.

rs1488942082 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:161420861 (GRCh38)
2:162277372 (GRCh37)
Canonical SPDI:: NC_000002.12:161420860:TTT:TT
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.161420863del, NC_000002.11:g.162277374del, NG_046904.1:g.9755del

Select item 14888468479.

rs1488846847 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:161421891 (GRCh38)
2:162278402 (GRCh37)
Canonical SPDI:: NC_000002.12:161421890:T:C
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.161421891T>C, NC_000002.11:g.162278402T>C, NG_046904.1:g.10783T>C

Select item 148874985610.

rs1488749856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:161422800 (GRCh38)
2:162279311 (GRCh37)
Canonical SPDI:: NC_000002.12:161422799:T:C
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.161422800T>C, NC_000002.11:g.162279311T>C, NG_046904.1:g.11692T>C

Select item 148859874511.

rs1488598745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:161420794 (GRCh38)
2:162277305 (GRCh37)
Canonical SPDI:: NC_000002.12:161420793:T:G
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.161420794T>G, NC_000002.11:g.162277305T>G, NG_046904.1:g.9686T>G

Select item 148836027812.

rs1488360278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:161414936 (GRCh38)
2:162271447 (GRCh37)
Canonical SPDI:: NC_000002.12:161414935:C:T
Gene:: TBR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.161414936C>T, NC_000002.11:g.162271447C>T, NG_046904.1:g.3828C>T

Select item 148822313813.

rs1488223138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:161414549 (GRCh38)
2:162271060 (GRCh37)
Canonical SPDI:: NC_000002.12:161414548:G:A
Gene:: TBR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.161414549G>A, NC_000002.11:g.162271060G>A, NG_046904.1:g.3441G>A

Select item 148819365014.

rs1488193650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:161415483 (GRCh38)
2:162271994 (GRCh37)
Canonical SPDI:: NC_000002.12:161415482:T:G
Gene:: TBR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.161415483T>G, NC_000002.11:g.162271994T>G, NG_046904.1:g.4375T>G

Select item 148816316615.

rs1488163166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:161424059 (GRCh38)
2:162280570 (GRCh37)
Canonical SPDI:: NC_000002.12:161424058:C:G
Gene:: TBR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.161424059C>G, NC_000002.11:g.162280570C>G, NG_046904.1:g.12951C>G, NM_006593.4:c.1881C>G, NM_006593.3:c.1881C>G, NM_006593.2:c.1881C>G, NP_006584.1:p.Ser627Arg

Select item 148808864716.

rs1488088647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:161423911 (GRCh38)
2:162280422 (GRCh37)
Canonical SPDI:: NC_000002.12:161423910:C:T
Gene:: TBR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.161423911C>T, NC_000002.11:g.162280422C>T, NG_046904.1:g.12803C>T, NM_006593.4:c.1733C>T, NM_006593.3:c.1733C>T, NM_006593.2:c.1733C>T, NP_006584.1:p.Ala578Val

Select item 148801972017.

rs1488019720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:161420275 (GRCh38)
2:162276786 (GRCh37)
Canonical SPDI:: NC_000002.12:161420274:T:C,NC_000002.12:161420274:T:G
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.161420275T>C, NC_000002.12:g.161420275T>G, NC_000002.11:g.162276786T>C, NC_000002.11:g.162276786T>G, NG_046904.1:g.9167T>C, NG_046904.1:g.9167T>G

Select item 148798881318.

rs1487988813 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:161414248 (GRCh38)
2:162270759 (GRCh37)
Canonical SPDI:: NC_000002.12:161414247:T:C,NC_000002.12:161414247:T:G
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.161414248T>C, NC_000002.12:g.161414248T>G, NC_000002.11:g.162270759T>C, NC_000002.11:g.162270759T>G, NG_046904.1:g.3140T>C, NG_046904.1:g.3140T>G

Select item 148797775419.

rs1487977754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:161418882 (GRCh38)
2:162275393 (GRCh37)
Canonical SPDI:: NC_000002.12:161418881:C:T
Gene:: TBR1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.161418882C>T, NC_000002.11:g.162275393C>T, NG_046904.1:g.7774C>T

Select item 148771800320.

rs1487718003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:161414845 (GRCh38)
2:162271356 (GRCh37)
Canonical SPDI:: NC_000002.12:161414844:C:A,NC_000002.12:161414844:C:T
Gene:: TBR1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.161414845C>A, NC_000002.12:g.161414845C>T, NC_000002.11:g.162271356C>A, NC_000002.11:g.162271356C>T, NG_046904.1:g.3737C>A, NG_046904.1:g.3737C>T

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