SNP Links for Gene (Select 51175) - SNP

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Select item 14915847551.

rs1491584755 has merged into rs371166684 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:112075079 (GRCh38)
6:112396282 (GRCh37)
Canonical SPDI:: NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:112075068:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTT
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.102/52 (NorthernSweden)
T=0.3305/1655 (1000Genomes)
HGVS:: NC_000006.12:g.112075079_112075084del, NC_000006.12:g.112075081_112075084del, NC_000006.12:g.112075082_112075084del, NC_000006.12:g.112075083_112075084del, NC_000006.12:g.112075084del, NC_000006.12:g.112075084dup, NC_000006.12:g.112075083_112075084dup, NC_000006.12:g.112075082_112075084dup, NC_000006.12:g.112075080_112075084dup, NC_000006.12:g.112075070_112075084dup, NC_000006.12:g.112075069_112075084dup, NC_000006.12:g.112075069_112075084T[41]CTTTTTTTTTTTTTTTTTTTT[1], NW_003871062.1:g.72601_72606del, NW_003871062.1:g.72603_72606del, NW_003871062.1:g.72604_72606del, NW_003871062.1:g.72605_72606del, NW_003871062.1:g.72606del, NW_003871062.1:g.72606dup, NW_003871062.1:g.72605_72606dup, NW_003871062.1:g.72604_72606dup, NW_003871062.1:g.72602_72606dup, NW_003871062.1:g.72592_72606dup, NW_003871062.1:g.72591_72606dup, NW_003871062.1:g.72591_72606T[41]CTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.112396282_112396287del, NC_000006.11:g.112396284_112396287del, NC_000006.11:g.112396285_112396287del, NC_000006.11:g.112396286_112396287del, NC_000006.11:g.112396287del, NC_000006.11:g.112396287dup, NC_000006.11:g.112396286_112396287dup, NC_000006.11:g.112396285_112396287dup, NC_000006.11:g.112396283_112396287dup, NC_000006.11:g.112396273_112396287dup, NC_000006.11:g.112396272_112396287dup, NC_000006.11:g.112396272_112396287T[41]CTTTTTTTTTTTTTTTTTTTT[1]

Select item 14911757552.

rs1491175755 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:112075069 (GRCh38)
6:112396273 (GRCh37)
Canonical SPDI:: NC_000006.12:112075069::C
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00063/26 (GnomAD)
HGVS:: NC_000006.12:g.112075069_112075070insC, NW_003871062.1:g.72591_72592insC, NC_000006.11:g.112396272_112396273insC

Select item 14910733803.

rs1491073380 has merged into rs201938598 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:112075068 (GRCh38)
6:112396271 (GRCh37)
Canonical SPDI:: NC_000006.12:112075066:TCT:T
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.007419/88 (ALFA)
-=0.000212/3 (TOMMO)
-=0.010001/1067 (GnomAD)
-=0.031938/58 (Korea1K)
HGVS:: NC_000006.12:g.112075068_112075069del, NW_003871062.1:g.72590_72591del, NC_000006.11:g.112396271_112396272del

Select item 14910696624.

rs1491069662 has merged into rs60207053 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:112079434 (GRCh38)
6:112400637 (GRCh37)
Canonical SPDI:: NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:112079421:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.375/15 (GENOME_DK)
HGVS:: NC_000006.12:g.112079434_112079436del, NC_000006.12:g.112079435_112079436del, NC_000006.12:g.112079436del, NC_000006.12:g.112079436dup, NC_000006.12:g.112079435_112079436dup, NC_000006.12:g.112079432_112079436dup, NC_000006.12:g.112079431_112079436dup, NC_000006.12:g.112079427_112079436dup, NC_000006.12:g.112079426_112079436dup, NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAA, NC_000006.12:g.112079436_112079437insAAAAAAAAAAAAAAAAAAAAAA, NW_003871062.1:g.76956_76958del, NW_003871062.1:g.76957_76958del, NW_003871062.1:g.76958del, NW_003871062.1:g.76958dup, NW_003871062.1:g.76957_76958dup, NW_003871062.1:g.76954_76958dup, NW_003871062.1:g.76953_76958dup, NW_003871062.1:g.76949_76958dup, NW_003871062.1:g.76948_76958dup, NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAA, NW_003871062.1:g.76958_76959insAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.112400637_112400639del, NC_000006.11:g.112400638_112400639del, NC_000006.11:g.112400639del, NC_000006.11:g.112400639dup, NC_000006.11:g.112400638_112400639dup, NC_000006.11:g.112400635_112400639dup, NC_000006.11:g.112400634_112400639dup, NC_000006.11:g.112400630_112400639dup, NC_000006.11:g.112400629_112400639dup, NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAA, NC_000006.11:g.112400639_112400640insAAAAAAAAAAAAAAAAAAAAAA

Select item 14908758515.

rs1490875851 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112079891 (GRCh38)
6:112401094 (GRCh37)
Canonical SPDI:: NC_000006.12:112079890:T:C
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.112079891T>C, NW_003871062.1:g.77413T>C, NC_000006.11:g.112401094T>C

Select item 14905869216.

rs1490586921 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112086232 (GRCh38)
6:112407435 (GRCh37)
Canonical SPDI:: NC_000006.12:112086231:T:C
Gene:: TUBE1 (Varview), FAM229B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.112086232T>C, NW_003871062.1:g.83754T>C, NC_000006.11:g.112407435T>C

Select item 14903174837.

rs1490317483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:112086887 (GRCh38)
6:112408090 (GRCh37)
Canonical SPDI:: NC_000006.12:112086886:A:C,NC_000006.12:112086886:A:G
Gene:: TUBE1 (Varview), FAM229B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.112086887A>C, NC_000006.12:g.112086887A>G, NW_003871062.1:g.84409A>C, NW_003871062.1:g.84409A>G, NC_000006.11:g.112408090A>C, NC_000006.11:g.112408090A>G

Select item 14901035348.

rs1490103534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:112085801 (GRCh38)
6:112407004 (GRCh37)
Canonical SPDI:: NC_000006.12:112085800:G:A
Gene:: TUBE1 (Varview), FAM229B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.112085801G>A, NW_003871062.1:g.83323G>A, NC_000006.11:g.112407004G>A

Select item 14900087689.

rs1490008768 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:112076672 (GRCh38)
6:112397875 (GRCh37)
Canonical SPDI:: NC_000006.12:112076671:T:C
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.112076672T>C, NW_003871062.1:g.74194T>C, NC_000006.11:g.112397875T>C

Select item 148987101410.

rs1489871014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:112077904 (GRCh38)
6:112399107 (GRCh37)
Canonical SPDI:: NC_000006.12:112077903:C:T
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.112077904C>T, NW_003871062.1:g.75426C>T, NC_000006.11:g.112399107C>T

Select item 148982810811.

rs1489828108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112086244 (GRCh38)
6:112407447 (GRCh37)
Canonical SPDI:: NC_000006.12:112086243:A:G
Gene:: TUBE1 (Varview), FAM229B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.112086244A>G, NW_003871062.1:g.83766A>G, NC_000006.11:g.112407447A>G

Select item 148965596812.

rs1489655968 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:112076651 (GRCh38)
6:112397854 (GRCh37)
Canonical SPDI:: NC_000006.12:112076650:C:A,NC_000006.12:112076650:C:T
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.112076651C>A, NC_000006.12:g.112076651C>T, NW_003871062.1:g.74173C>A, NW_003871062.1:g.74173C>T, NC_000006.11:g.112397854C>A, NC_000006.11:g.112397854C>T

Select item 148943221013.

rs1489432210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:112085363 (GRCh38)
6:112406566 (GRCh37)
Canonical SPDI:: NC_000006.12:112085362:G:A,NC_000006.12:112085362:G:T
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.112085363G>A, NC_000006.12:g.112085363G>T, NW_003871062.1:g.82885G>A, NW_003871062.1:g.82885G>T, NC_000006.11:g.112406566G>A, NC_000006.11:g.112406566G>T

Select item 148924306214.

rs1489243062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:112076141 (GRCh38)
6:112397344 (GRCh37)
Canonical SPDI:: NC_000006.12:112076140:G:T
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112076141G>T, NW_003871062.1:g.73663G>T, NC_000006.11:g.112397344G>T

Select item 148920033315.

rs1489200333 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112072290 (GRCh38)
6:112393493 (GRCh37)
Canonical SPDI:: NC_000006.12:112072289:A:G
Gene:: TUBE1 (Varview)
Functional Consequence:: 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.112072290A>G, NW_003871062.1:g.69812A>G, NC_000006.11:g.112393493A>G

Select item 148917408916.

rs1489174089 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112089436 (GRCh38)
6:112410639 (GRCh37)
Canonical SPDI:: NC_000006.12:112089435:A:G
Gene:: TUBE1 (Varview), FAM229B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.112089436A>G, NW_003871062.1:g.86958A>G, NC_000006.11:g.112410639A>G

Select item 148914962617.

rs1489149626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112073419 (GRCh38)
6:112394622 (GRCh37)
Canonical SPDI:: NC_000006.12:112073418:A:G
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.112073419A>G, NW_003871062.1:g.70941A>G, NC_000006.11:g.112394622A>G

Select item 148897761518.

rs1488977615 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:112080348 (GRCh38)
6:112401551 (GRCh37)
Canonical SPDI:: NC_000006.12:112080347:A:G
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.112080348A>G, NW_003871062.1:g.77870A>G, NC_000006.11:g.112401551A>G

Select item 148896565219.

rs1488965652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:112077442 (GRCh38)
6:112398645 (GRCh37)
Canonical SPDI:: NC_000006.12:112077441:G:A,NC_000006.12:112077441:G:T
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112077442G>A, NC_000006.12:g.112077442G>T, NW_003871062.1:g.74964G>A, NW_003871062.1:g.74964G>T, NC_000006.11:g.112398645G>A, NC_000006.11:g.112398645G>T

Select item 148890339620.

rs1488903396 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:112085225 (GRCh38)
6:112406428 (GRCh37)
Canonical SPDI:: NC_000006.12:112085224:TTTT:TTT
Gene:: TUBE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.112085228del, NW_003871062.1:g.82750del, NC_000006.11:g.112406431del

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