SNP Links for Gene (Select 387082) - SNP

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Select item 14913849721.

rs1491384972 has merged into rs71681301 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 6:149399539 (GRCh38)
6:149720675 (GRCh37)
Canonical SPDI:: NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.2479/996 (1000Genomes)
-=0.3626/66 (Vietnamese)
HGVS:: NC_000006.12:g.149399539_149399540del, NC_000006.12:g.149399540del, NC_000006.12:g.149399540dup, NC_000006.12:g.149399539_149399540dup, NC_000006.12:g.149399538_149399540dup, NC_000006.12:g.149399537_149399540dup, NC_000006.12:g.149399536_149399540dup, NC_000006.11:g.149720675_149720676del, NC_000006.11:g.149720676del, NC_000006.11:g.149720676dup, NC_000006.11:g.149720675_149720676dup, NC_000006.11:g.149720674_149720676dup, NC_000006.11:g.149720673_149720676dup, NC_000006.11:g.149720672_149720676dup, NG_021386.2:g.186616_186617del, NG_021386.2:g.186617del, NG_021386.2:g.186617dup, NG_021386.2:g.186616_186617dup, NG_021386.2:g.186615_186617dup, NG_021386.2:g.186614_186617dup, NG_021386.2:g.186613_186617dup, NG_012301.1:g.4181_4182del, NG_012301.1:g.4182del, NG_012301.1:g.4182dup, NG_012301.1:g.4181_4182dup, NG_012301.1:g.4180_4182dup, NG_012301.1:g.4179_4182dup, NG_012301.1:g.4178_4182dup

Select item 14910618592.

rs1491061859 has merged into rs71681301 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 6:149399539 (GRCh38)
6:149720675 (GRCh37)
Canonical SPDI:: NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:149399530:CCCCCCCCCC:CCCCCCCCCCCCCCC
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.2479/996 (1000Genomes)
-=0.3626/66 (Vietnamese)
HGVS:: NC_000006.12:g.149399539_149399540del, NC_000006.12:g.149399540del, NC_000006.12:g.149399540dup, NC_000006.12:g.149399539_149399540dup, NC_000006.12:g.149399538_149399540dup, NC_000006.12:g.149399537_149399540dup, NC_000006.12:g.149399536_149399540dup, NC_000006.11:g.149720675_149720676del, NC_000006.11:g.149720676del, NC_000006.11:g.149720676dup, NC_000006.11:g.149720675_149720676dup, NC_000006.11:g.149720674_149720676dup, NC_000006.11:g.149720673_149720676dup, NC_000006.11:g.149720672_149720676dup, NG_021386.2:g.186616_186617del, NG_021386.2:g.186617del, NG_021386.2:g.186617dup, NG_021386.2:g.186616_186617dup, NG_021386.2:g.186615_186617dup, NG_021386.2:g.186614_186617dup, NG_021386.2:g.186613_186617dup, NG_012301.1:g.4181_4182del, NG_012301.1:g.4182del, NG_012301.1:g.4182dup, NG_012301.1:g.4181_4182dup, NG_012301.1:g.4180_4182dup, NG_012301.1:g.4179_4182dup, NG_012301.1:g.4178_4182dup

Select item 14896547153.

rs1489654715 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149398532 (GRCh38)
6:149719668 (GRCh37)
Canonical SPDI:: NC_000006.12:149398531:A:G
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.149398532A>G, NC_000006.11:g.149719668A>G, NG_021386.2:g.185609A>G, NG_012301.1:g.3174A>G

Select item 14889640454.

rs1488964045 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149401147 (GRCh38)
6:149722283 (GRCh37)
Canonical SPDI:: NC_000006.12:149401146:A:G
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.149401147A>G, NC_000006.11:g.149722283A>G, NG_021386.2:g.188224A>G, NG_012301.1:g.5789A>G, NM_001002255.2:c.*468A>G

Select item 14889245315.

rs1488924531 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149401512 (GRCh38)
6:149722648 (GRCh37)
Canonical SPDI:: NC_000006.12:149401511:A:G
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.149401512A>G, NC_000006.11:g.149722648A>G, NG_021386.2:g.188589A>G, NG_012301.1:g.6154A>G

Select item 14867603616.

rs1486760361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:149399926 (GRCh38)
6:149721062 (GRCh37)
Canonical SPDI:: NC_000006.12:149399925:G:T
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_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_000006.12:g.149399926G>T, NC_000006.11:g.149721062G>T, NG_021386.2:g.187003G>T, NG_012301.1:g.4568G>T

Select item 14866821947.

rs1486682194 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:149400292 (GRCh38)
6:149721428 (GRCh37)
Canonical SPDI:: NC_000006.12:149400291:T:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,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_000006.12:g.149400292T>C, NC_000006.11:g.149721428T>C, NG_021386.2:g.187369T>C, NG_012301.1:g.4934T>C, NM_001002255.2:c.-100T>C

Select item 14846901558.

rs1484690155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:149401114 (GRCh38)
6:149722250 (GRCh37)
Canonical SPDI:: NC_000006.12:149401113:A:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.149401114A>C, NC_000006.11:g.149722250A>C, NG_021386.2:g.188191A>C, NG_012301.1:g.5756A>C, NM_001002255.2:c.*435A>C

Select item 14843636499.

rs1484363649 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:149399122 (GRCh38)
6:149720258 (GRCh37)
Canonical SPDI:: NC_000006.12:149399121:G:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.149399122G>C, NC_000006.11:g.149720258G>C, NG_021386.2:g.186199G>C, NM_015093.6:c.1877G>C, NM_015093.5:c.1877G>C, NM_015093.4:c.1877G>C, NM_001292034.3:c.1877G>C, NM_001292034.2:c.1877G>C, NM_001292034.1:c.1877G>C, NM_001292035.3:c.1781G>C, NM_001292035.2:c.1781G>C, NM_001292035.1:c.1781G>C, NM_001369506.1:c.1877G>C, NG_012301.1:g.3764G>C, XM_011535633.3:c.1877G>C, XM_011535633.2:c.1877G>C, XM_011535633.1:c.1877G>C, XM_017010592.3:c.1877G>C, XM_017010592.2:c.1877G>C, XM_017010592.1:c.1877G>C, XM_047418485.1:c.1877G>C, XM_047418487.1:c.1877G>C, XM_047418486.1:c.1877G>C, NM_145342.1:c.*476G>C, XM_047418489.1:c.1877G>C, XM_047418488.1:c.1877G>C, XM_047418490.1:c.1877G>C, NP_055908.1:p.Ser626Thr, NP_001278963.1:p.Ser626Thr, NP_001278964.1:p.Ser594Thr, NP_001356435.1:p.Ser626Thr, XP_011533935.1:p.Ser626Thr, XP_016866081.1:p.Ser626Thr, XP_047274441.1:p.Ser626Thr, XP_047274443.1:p.Ser626Thr, XP_047274442.1:p.Ser626Thr, XP_047274445.1:p.Ser626Thr, XP_047274444.1:p.Ser626Thr, XP_047274446.1:p.Ser626Thr

Select item 148341196410.

rs1483411964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:149399398 (GRCh38)
6:149720534 (GRCh37)
Canonical SPDI:: NC_000006.12:149399397:G:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.149399398G>C, NC_000006.11:g.149720534G>C, NG_021386.2:g.186475G>C, NG_012301.1:g.4040G>C

Select item 148339768111.

rs1483397681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:149399227 (GRCh38)
6:149720363 (GRCh37)
Canonical SPDI:: NC_000006.12:149399226:G:A
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.149399227G>A, NC_000006.11:g.149720363G>A, NG_021386.2:g.186304G>A, NG_012301.1:g.3869G>A

Select item 148255877412.

rs1482558774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:149398375 (GRCh38)
6:149719511 (GRCh37)
Canonical SPDI:: NC_000006.12:149398374:C:G,NC_000006.12:149398374:C:T
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.149398375C>G, NC_000006.12:g.149398375C>T, NC_000006.11:g.149719511C>G, NC_000006.11:g.149719511C>T, NG_021386.2:g.185452C>G, NG_021386.2:g.185452C>T, NG_012301.1:g.3017C>G, NG_012301.1:g.3017C>T

Select item 148194354913.

rs1481943549 has merged into rs1170479029 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 6:149399529 (GRCh38)
6:149720665 (GRCh37)
Canonical SPDI:: NC_000006.12:149399528:TT:T,NC_000006.12:149399528:TT:TTT
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.149399530del, NC_000006.12:g.149399530dup, NC_000006.11:g.149720666del, NC_000006.11:g.149720666dup, NG_021386.2:g.186607del, NG_021386.2:g.186607dup, NG_012301.1:g.4172del, NG_012301.1:g.4172dup

Select item 148189617214.

rs1481896172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:149400437 (GRCh38)
6:149721573 (GRCh37)
Canonical SPDI:: NC_000006.12:149400436:A:G
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.149400437A>G, NC_000006.11:g.149721573A>G, NG_021386.2:g.187514A>G, NG_012301.1:g.5079A>G, NM_001002255.2:c.46A>G, NM_001002255.1:c.46A>G, NP_001002255.1:p.Asn16Asp

Select item 148089416515.

rs1480894165 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:149401463 (GRCh38)
6:149722599 (GRCh37)
Canonical SPDI:: NC_000006.12:149401462:A:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.149401463A>C, NC_000006.11:g.149722599A>C, NG_021386.2:g.188540A>C, NG_012301.1:g.6105A>C

Select item 147874305416.

rs1478743054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:149398761 (GRCh38)
6:149719897 (GRCh37)
Canonical SPDI:: NC_000006.12:149398760:T:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,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_000006.12:g.149398761T>C, NC_000006.11:g.149719897T>C, NG_021386.2:g.185838T>C, NG_012301.1:g.3403T>C

Select item 147770777217.

rs1477707772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:149399135 (GRCh38)
6:149720271 (GRCh37)
Canonical SPDI:: NC_000006.12:149399134:C:T
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.149399135C>T, NC_000006.11:g.149720271C>T, NG_021386.2:g.186212C>T, NM_015093.6:c.1890C>T, NM_015093.5:c.1890C>T, NM_015093.4:c.1890C>T, NM_001292034.3:c.1890C>T, NM_001292034.2:c.1890C>T, NM_001292034.1:c.1890C>T, NM_001292035.3:c.1794C>T, NM_001292035.2:c.1794C>T, NM_001292035.1:c.1794C>T, NM_001369506.1:c.1890C>T, NG_012301.1:g.3777C>T, XM_011535633.3:c.1890C>T, XM_011535633.2:c.1890C>T, XM_011535633.1:c.1890C>T, XM_017010592.3:c.1890C>T, XM_017010592.2:c.1890C>T, XM_017010592.1:c.1890C>T, XM_047418485.1:c.1890C>T, XM_047418487.1:c.1890C>T, XM_047418486.1:c.1890C>T, NM_145342.1:c.*489C>T, XM_047418489.1:c.1890C>T, XM_047418488.1:c.1890C>T, XM_047418490.1:c.1890C>T

Select item 147746430818.

rs1477464308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:149399523 (GRCh38)
6:149720659 (GRCh37)
Canonical SPDI:: NC_000006.12:149399522:G:A,NC_000006.12:149399522:G:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.149399523G>A, NC_000006.12:g.149399523G>C, NC_000006.11:g.149720659G>A, NC_000006.11:g.149720659G>C, NG_021386.2:g.186600G>A, NG_021386.2:g.186600G>C, NG_012301.1:g.4165G>A, NG_012301.1:g.4165G>C

Select item 147656477919.

rs1476564779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:149399238 (GRCh38)
6:149720374 (GRCh37)
Canonical SPDI:: NC_000006.12:149399237:G:T
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.149399238G>T, NC_000006.11:g.149720374G>T, NG_021386.2:g.186315G>T, NG_012301.1:g.3880G>T

Select item 147620184320.

rs1476201843 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:149400915 (GRCh38)
6:149722051 (GRCh37)
Canonical SPDI:: NC_000006.12:149400914:G:C
Gene:: TAB2 (Varview), SUMO4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.149400915G>C, NC_000006.11:g.149722051G>C, NG_021386.2:g.187992G>C, NG_012301.1:g.5557G>C, NM_001002255.2:c.*236G>C, NM_001002255.1:c.*236G>C

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