SNP Links for Gene (Select 23118) - SNP

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Select item 14915850531.

rs1491585053 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 6:149358641 (GRCh38)
6:149679778 (GRCh37)
Canonical SPDI:: NC_000006.12:149358641:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: TAB2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGTGC=0.0006/8 (GnomAD)
GTGTGTGTGTGTGTGTGTGTGTGTGTGC=0.00339/2 (NorthernSweden)
HGVS:: NC_000006.12:g.149358642_149358668GT[13]GCGTGTGTGTGTGTGTGTGTGTGTGTGTG[1], NC_000006.11:g.149679778_149679804GT[13]GCGTGTGTGTGTGTGTGTGTGTGTGTGTG[1], NG_021386.2:g.145719_145745GT[13]GCGTGTGTGTGTGTGTGTGTGTGTGTGTG[1], XM_047418485.1:c.-9616_-9590GT[13]GCGTGTGTGTGTGTGTGTGTGTGTGTGTG[1]

Select item 14915730372.

rs1491573037 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 6:149346470 (GRCh38)
6:149667606 (GRCh37)
Canonical SPDI:: NC_000006.12:149346469:TG:
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00485/137 (TOMMO)
HGVS:: NC_000006.12:g.149346470_149346471del, NC_000006.11:g.149667606_149667607del, NG_021386.2:g.133547_133548del

Select item 14915651353.

rs1491565135 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:149361265 (GRCh38)
6:149682402 (GRCh37)
Canonical SPDI:: NC_000006.12:149361265:C:CC
Gene:: TAB2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.149361266dup, NC_000006.11:g.149682402dup, NG_021386.2:g.148343dup, XM_047418485.1:c.-6992dup

Select item 14915498964.

rs1491549896 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:149254095 (GRCh38)
6:149575232 (GRCh37)
Canonical SPDI:: NC_000006.12:149254095::C
Gene:: TAB2 (Varview), TAB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.149254095_149254096insC, NC_000006.11:g.149575231_149575232insC, NG_021386.2:g.41172_41173insC

Select item 14915412935.

rs1491541293 has merged into rs557951574 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:149381580 (GRCh38)
6:149702716 (GRCh37)
Canonical SPDI:: NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149381569:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.149381580_149381591del, NC_000006.12:g.149381582_149381591del, NC_000006.12:g.149381584_149381591del, NC_000006.12:g.149381586_149381591del, NC_000006.12:g.149381588_149381591del, NC_000006.12:g.149381589_149381591del, NC_000006.12:g.149381590_149381591del, NC_000006.12:g.149381591del, NC_000006.12:g.149381591dup, NC_000006.12:g.149381590_149381591dup, NC_000006.12:g.149381589_149381591dup, NC_000006.12:g.149381588_149381591dup, NC_000006.12:g.149381587_149381591dup, NC_000006.12:g.149381586_149381591dup, NC_000006.12:g.149381585_149381591dup, NC_000006.12:g.149381584_149381591dup, NC_000006.12:g.149381583_149381591dup, NC_000006.12:g.149381582_149381591dup, NC_000006.12:g.149381580_149381591dup, NC_000006.12:g.149381591_149381592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.149381591_149381592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.149381591_149381592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.149381591_149381592insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.149702716_149702727del, NC_000006.11:g.149702718_149702727del, NC_000006.11:g.149702720_149702727del, NC_000006.11:g.149702722_149702727del, NC_000006.11:g.149702724_149702727del, NC_000006.11:g.149702725_149702727del, NC_000006.11:g.149702726_149702727del, NC_000006.11:g.149702727del, NC_000006.11:g.149702727dup, NC_000006.11:g.149702726_149702727dup, NC_000006.11:g.149702725_149702727dup, NC_000006.11:g.149702724_149702727dup, NC_000006.11:g.149702723_149702727dup, NC_000006.11:g.149702722_149702727dup, NC_000006.11:g.149702721_149702727dup, NC_000006.11:g.149702720_149702727dup, NC_000006.11:g.149702719_149702727dup, NC_000006.11:g.149702718_149702727dup, NC_000006.11:g.149702716_149702727dup, NC_000006.11:g.149702727_149702728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.149702727_149702728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.149702727_149702728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.149702727_149702728insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021386.2:g.168657_168668del, NG_021386.2:g.168659_168668del, NG_021386.2:g.168661_168668del, NG_021386.2:g.168663_168668del, NG_021386.2:g.168665_168668del, NG_021386.2:g.168666_168668del, NG_021386.2:g.168667_168668del, NG_021386.2:g.168668del, NG_021386.2:g.168668dup, NG_021386.2:g.168667_168668dup, NG_021386.2:g.168666_168668dup, NG_021386.2:g.168665_168668dup, NG_021386.2:g.168664_168668dup, NG_021386.2:g.168663_168668dup, NG_021386.2:g.168662_168668dup, NG_021386.2:g.168661_168668dup, NG_021386.2:g.168660_168668dup, NG_021386.2:g.168659_168668dup, NG_021386.2:g.168657_168668dup, NG_021386.2:g.168668_168669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021386.2:g.168668_168669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021386.2:g.168668_168669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021386.2:g.168668_168669insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915364656.

rs1491536465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 6:149254021 (GRCh38)
6:149575158 (GRCh37)
Canonical SPDI:: NC_000006.12:149254021:GAA:GAAGGAA
Gene:: TAB2 (Varview), TAB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAA=0.0004/2 (ALFA)
HGVS:: NC_000006.12:g.149254024_149254025insGGAA, NC_000006.11:g.149575160_149575161insGGAA, NG_021386.2:g.41101_41102insGGAA

Select item 14915002037.

rs1491500203 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAA [Show Flanks]
Chromosome:: 6:149254013 (GRCh38)
6:149575150 (GRCh37)
Canonical SPDI:: NC_000006.12:149254013:GAA:GAATGAA
Gene:: TAB2 (Varview), TAB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAATGAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.149254016_149254017insTGAA, NC_000006.11:g.149575152_149575153insTGAA, NG_021386.2:g.41093_41094insTGAA

Select item 14914940878.

rs1491494087 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GAGAAAGAAAGAAAGC [Show Flanks]
Chromosome:: 6:149275237 (GRCh38)
6:149596374 (GRCh37)
Canonical SPDI:: NC_000006.12:149275237::G,NC_000006.12:149275237::GAGAAAGAAAGAAAGC
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: GAGAAAGAAAGAAAGC=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.149275237_149275238insG, NC_000006.12:g.149275237_149275238insGAGAAAGAAAGAAAGC, NC_000006.11:g.149596373_149596374insG, NC_000006.11:g.149596373_149596374insGAGAAAGAAAGAAAGC, NG_021386.2:g.62314_62315insG, NG_021386.2:g.62314_62315insGAGAAAGAAAGAAAGC

Select item 14914914719.

rs1491491471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:149249153 (GRCh38)
6:149570290 (GRCh37)
Canonical SPDI:: NC_000006.12:149249153:A:AA
Gene:: TAB2 (Varview), TAB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.149249154dup, NC_000006.11:g.149570290dup, NG_021386.2:g.36231dup

Select item 149148818210.

rs1491488182 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTTT [Show Flanks]
Chromosome:: 6:149288855 (GRCh38)
6:149609992 (GRCh37)
Canonical SPDI:: NC_000006.12:149288855:TTTT:TTTTATTTT
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTTTATTTT=0./0 (ALFA)
TTTTA=0.00003/1 (GnomAD)
HGVS:: NC_000006.12:g.149288856_149288859T[4]ATTTT[1], NC_000006.11:g.149609992_149609995T[4]ATTTT[1], NG_021386.2:g.75933_75936T[4]ATTTT[1]

Select item 149146105911.

rs1491461059 has merged into rs11399281 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:149346464 (GRCh38)
6:149667600 (GRCh37)
Canonical SPDI:: NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:149346448:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4183/2095 (1000Genomes)
HGVS:: NC_000006.12:g.149346464_149346470del, NC_000006.12:g.149346465_149346470del, NC_000006.12:g.149346466_149346470del, NC_000006.12:g.149346467_149346470del, NC_000006.12:g.149346468_149346470del, NC_000006.12:g.149346469_149346470del, NC_000006.12:g.149346470del, NC_000006.12:g.149346470dup, NC_000006.12:g.149346469_149346470dup, NC_000006.12:g.149346468_149346470dup, NC_000006.12:g.149346467_149346470dup, NC_000006.12:g.149346466_149346470dup, NC_000006.12:g.149346465_149346470dup, NC_000006.12:g.149346464_149346470dup, NC_000006.12:g.149346470_149346471insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.149667600_149667606del, NC_000006.11:g.149667601_149667606del, NC_000006.11:g.149667602_149667606del, NC_000006.11:g.149667603_149667606del, NC_000006.11:g.149667604_149667606del, NC_000006.11:g.149667605_149667606del, NC_000006.11:g.149667606del, NC_000006.11:g.149667606dup, NC_000006.11:g.149667605_149667606dup, NC_000006.11:g.149667604_149667606dup, NC_000006.11:g.149667603_149667606dup, NC_000006.11:g.149667602_149667606dup, NC_000006.11:g.149667601_149667606dup, NC_000006.11:g.149667600_149667606dup, NC_000006.11:g.149667606_149667607insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021386.2:g.133541_133547del, NG_021386.2:g.133542_133547del, NG_021386.2:g.133543_133547del, NG_021386.2:g.133544_133547del, NG_021386.2:g.133545_133547del, NG_021386.2:g.133546_133547del, NG_021386.2:g.133547del, NG_021386.2:g.133547dup, NG_021386.2:g.133546_133547dup, NG_021386.2:g.133545_133547dup, NG_021386.2:g.133544_133547dup, NG_021386.2:g.133543_133547dup, NG_021386.2:g.133542_133547dup, NG_021386.2:g.133541_133547dup, NG_021386.2:g.133547_133548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149146087312.

rs1491460873 has merged into rs58001933 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:149306567 (GRCh38)
6:149627703 (GRCh37)
Canonical SPDI:: NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149306557:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TAB2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4734/2371 (1000Genomes)
HGVS:: NC_000006.12:g.149306567_149306573del, NC_000006.12:g.149306570_149306573del, NC_000006.12:g.149306571_149306573del, NC_000006.12:g.149306572_149306573del, NC_000006.12:g.149306573del, NC_000006.12:g.149306573dup, NC_000006.12:g.149306572_149306573dup, NC_000006.12:g.149306569_149306573dup, NC_000006.12:g.149306567_149306573dup, NC_000006.12:g.149306565_149306573dup, NC_000006.12:g.149306564_149306573dup, NC_000006.12:g.149306563_149306573dup, NC_000006.12:g.149306573_149306574insAAAAAAAAAAAAAAAAA, NC_000006.11:g.149627703_149627709del, NC_000006.11:g.149627706_149627709del, NC_000006.11:g.149627707_149627709del, NC_000006.11:g.149627708_149627709del, NC_000006.11:g.149627709del, NC_000006.11:g.149627709dup, NC_000006.11:g.149627708_149627709dup, NC_000006.11:g.149627705_149627709dup, NC_000006.11:g.149627703_149627709dup, NC_000006.11:g.149627701_149627709dup, NC_000006.11:g.149627700_149627709dup, NC_000006.11:g.149627699_149627709dup, NC_000006.11:g.149627709_149627710insAAAAAAAAAAAAAAAAA, NG_021386.2:g.93644_93650del, NG_021386.2:g.93647_93650del, NG_021386.2:g.93648_93650del, NG_021386.2:g.93649_93650del, NG_021386.2:g.93650del, NG_021386.2:g.93650dup, NG_021386.2:g.93649_93650dup, NG_021386.2:g.93646_93650dup, NG_021386.2:g.93644_93650dup, NG_021386.2:g.93642_93650dup, NG_021386.2:g.93641_93650dup, NG_021386.2:g.93640_93650dup, NG_021386.2:g.93650_93651insAAAAAAAAAAAAAAAAA

Select item 149141168013.

rs1491411680 has merged into rs1554254273 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 6:149254014 (GRCh38)
6:149575150 (GRCh37)
Canonical SPDI:: NC_000006.12:149254012:AGA:A,NC_000006.12:149254012:AGA:AGAGA
Gene:: TAB2 (Varview), TAB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000006.12:g.149254014_149254015del, NC_000006.12:g.149254014_149254015dup, NC_000006.11:g.149575150_149575151del, NC_000006.11:g.149575150_149575151dup, NG_021386.2:g.41091_41092del, NG_021386.2:g.41091_41092dup

Select item 149141041014.

rs1491410410 has merged into rs59070515 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:149326283 (GRCh38)
6:149647419 (GRCh37)
Canonical SPDI:: NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149326271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAAA=0.3874/1493 (ALSPAC)
HGVS:: NC_000006.12:g.149326283_149326290del, NC_000006.12:g.149326284_149326290del, NC_000006.12:g.149326285_149326290del, NC_000006.12:g.149326286_149326290del, NC_000006.12:g.149326287_149326290del, NC_000006.12:g.149326288_149326290del, NC_000006.12:g.149326289_149326290del, NC_000006.12:g.149326290del, NC_000006.12:g.149326290dup, NC_000006.12:g.149326289_149326290dup, NC_000006.12:g.149326288_149326290dup, NC_000006.12:g.149326286_149326290dup, NC_000006.12:g.149326285_149326290dup, NC_000006.12:g.149326284_149326290dup, NC_000006.12:g.149326273_149326290dup, NC_000006.11:g.149647419_149647426del, NC_000006.11:g.149647420_149647426del, NC_000006.11:g.149647421_149647426del, NC_000006.11:g.149647422_149647426del, NC_000006.11:g.149647423_149647426del, NC_000006.11:g.149647424_149647426del, NC_000006.11:g.149647425_149647426del, NC_000006.11:g.149647426del, NC_000006.11:g.149647426dup, NC_000006.11:g.149647425_149647426dup, NC_000006.11:g.149647424_149647426dup, NC_000006.11:g.149647422_149647426dup, NC_000006.11:g.149647421_149647426dup, NC_000006.11:g.149647420_149647426dup, NC_000006.11:g.149647409_149647426dup, NG_021386.2:g.113360_113367del, NG_021386.2:g.113361_113367del, NG_021386.2:g.113362_113367del, NG_021386.2:g.113363_113367del, NG_021386.2:g.113364_113367del, NG_021386.2:g.113365_113367del, NG_021386.2:g.113366_113367del, NG_021386.2:g.113367del, NG_021386.2:g.113367dup, NG_021386.2:g.113366_113367dup, NG_021386.2:g.113365_113367dup, NG_021386.2:g.113363_113367dup, NG_021386.2:g.113362_113367dup, NG_021386.2:g.113361_113367dup, NG_021386.2:g.113350_113367dup

Select item 149140951715.

rs1491409517 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 6:149253612 (GRCh38)
6:149574749 (GRCh37)
Canonical SPDI:: NC_000006.12:149253612::CC
Gene:: TAB2 (Varview), TAB2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CC=0.00007/6 (GnomAD)
CC=0.00021/6 (TOMMO)
HGVS:: NC_000006.12:g.149253612_149253613insCC, NC_000006.11:g.149574748_149574749insCC, NG_021386.2:g.40689_40690insCC

Select item 149140261316.

rs1491402613 has merged into rs9322172 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:149280942 (GRCh38)
6:149602078 (GRCh37)
Canonical SPDI:: NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:149280931:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.149280942_149280950del, NC_000006.12:g.149280945_149280950del, NC_000006.12:g.149280946_149280950del, NC_000006.12:g.149280947_149280950del, NC_000006.12:g.149280948_149280950del, NC_000006.12:g.149280949_149280950del, NC_000006.12:g.149280950del, NC_000006.12:g.149280950dup, NC_000006.12:g.149280949_149280950dup, NC_000006.12:g.149280945_149280950dup, NC_000006.11:g.149602078_149602086del, NC_000006.11:g.149602081_149602086del, NC_000006.11:g.149602082_149602086del, NC_000006.11:g.149602083_149602086del, NC_000006.11:g.149602084_149602086del, NC_000006.11:g.149602085_149602086del, NC_000006.11:g.149602086del, NC_000006.11:g.149602086dup, NC_000006.11:g.149602085_149602086dup, NC_000006.11:g.149602081_149602086dup, NG_021386.2:g.68019_68027del, NG_021386.2:g.68022_68027del, NG_021386.2:g.68023_68027del, NG_021386.2:g.68024_68027del, NG_021386.2:g.68025_68027del, NG_021386.2:g.68026_68027del, NG_021386.2:g.68027del, NG_021386.2:g.68027dup, NG_021386.2:g.68026_68027dup, NG_021386.2:g.68022_68027dup

Select item 149139480817.

rs1491394808 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:149284694 (GRCh38)
6:149605831 (GRCh37)
Canonical SPDI:: NC_000006.12:149284694::C
Gene:: TAB2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000052/7 (GnomAD)
HGVS:: NC_000006.12:g.149284694_149284695insC, NC_000006.11:g.149605830_149605831insC, NG_021386.2:g.71771_71772insC

Select item 149138497218.

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 149136939719.

rs1491369397 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA,TTAA,TTG,TTTA,TTTAA,TTTG,TTTTA,TTTTG [Show Flanks]
Chromosome:: 6:149339604 (GRCh38)
6:149660741 (GRCh37)
Canonical SPDI:: NC_000006.12:149339604::TTA,NC_000006.12:149339604::TTAA,NC_000006.12:149339604::TTG,NC_000006.12:149339604::TTTA,NC_000006.12:149339604::TTTAA,NC_000006.12:149339604::TTTG,NC_000006.12:149339604::TTTTA,NC_000006.12:149339604::TTTTG
Gene:: TAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.149339604_149339605insTTA, NC_000006.12:g.149339604_149339605insTTAA, NC_000006.12:g.149339604_149339605insTTG, NC_000006.12:g.149339604_149339605insTTTA, NC_000006.12:g.149339604_149339605insTTTAA, NC_000006.12:g.149339604_149339605insTTTG, NC_000006.12:g.149339604_149339605insTTTTA, NC_000006.12:g.149339604_149339605insTTTTG, NC_000006.11:g.149660740_149660741insTTA, NC_000006.11:g.149660740_149660741insTTAA, NC_000006.11:g.149660740_149660741insTTG, NC_000006.11:g.149660740_149660741insTTTA, NC_000006.11:g.149660740_149660741insTTTAA, NC_000006.11:g.149660740_149660741insTTTG, NC_000006.11:g.149660740_149660741insTTTTA, NC_000006.11:g.149660740_149660741insTTTTG, NG_021386.2:g.126681_126682insTTA, NG_021386.2:g.126681_126682insTTAA, NG_021386.2:g.126681_126682insTTG, NG_021386.2:g.126681_126682insTTTA, NG_021386.2:g.126681_126682insTTTAA, NG_021386.2:g.126681_126682insTTTG, NG_021386.2:g.126681_126682insTTTTA, NG_021386.2:g.126681_126682insTTTTG

Select item 149136315820.

rs1491363158 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:149339605 (GRCh38)
6:149660741 (GRCh37)
Canonical SPDI:: NC_000006.12:149339603:TAT:T
Gene:: TAB2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00017/2 (ALFA)
-=0.02255/374 (TOMMO)
-=0.02834/50 (Korea1K)
-=0.06733/3409 (GnomAD)
HGVS:: NC_000006.12:g.149339605_149339606del, NC_000006.11:g.149660741_149660742del, NG_021386.2:g.126682_126683del

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