SNP Links for Gene (Select 54662) - SNP

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Select item 14914858991.

rs1491485899 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 9:128808408 (GRCh38)
9:131570687 (GRCh37)
Canonical SPDI:: NC_000009.12:128808407:CG:
Gene:: TBC1D13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00031/2 (1000Genomes)
-=0.00035/21 (GnomAD)
HGVS:: NC_000009.12:g.128808408_128808409del, NC_000009.11:g.131570687_131570688del, NM_018201.5:c.*529_*530del, NM_018201.4:c.*529_*530del, NM_018201.3:c.*529_*530del, XM_005252060.3:c.*529_*530del, XM_005252060.2:c.*529_*530del, XM_005252060.1:c.*529_*530del, NM_001286772.2:c.*529_*530del, NM_001286772.1:c.*529_*530del, XM_047423479.1:c.*529_*530del

Select item 14914486042.

rs1491448604 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 9:128786142 (GRCh38)
9:131548422 (GRCh37)
Canonical SPDI:: NC_000009.12:128786142:TTT:TTTCTTT
Gene:: TBC1D13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0.00025/3 (ALFA)
TTTC=0.02906/34 (GnomAD)
HGVS:: NC_000009.12:g.128786145_128786146insCTTT, NC_000009.11:g.131548424_131548425insCTTT

Select item 14914328013.

rs1491432801 has merged into rs55982356 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:128785751 (GRCh38)
9:131548030 (GRCh37)
Canonical SPDI:: NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128785744:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBC1D13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (TWINSUK)
T=0.0254/127 (1000Genomes)
HGVS:: NC_000009.12:g.128785751_128785757del, NC_000009.12:g.128785755_128785757del, NC_000009.12:g.128785756_128785757del, NC_000009.12:g.128785757del, NC_000009.12:g.128785757dup, NC_000009.12:g.128785756_128785757dup, NC_000009.12:g.128785755_128785757dup, NC_000009.12:g.128785757_128785758insTTTTTTTTTTTTTT, NC_000009.11:g.131548030_131548036del, NC_000009.11:g.131548034_131548036del, NC_000009.11:g.131548035_131548036del, NC_000009.11:g.131548036del, NC_000009.11:g.131548036dup, NC_000009.11:g.131548035_131548036dup, NC_000009.11:g.131548034_131548036dup, NC_000009.11:g.131548036_131548037insTTTTTTTTTTTTTT

Select item 14914028864.

rs1491402886 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 9:128808407 (GRCh38)
9:131570686 (GRCh37)
Canonical SPDI:: NC_000009.12:128808406:CC:
Gene:: TBC1D13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.000045/6 (GnomAD)
-=0.000071/1 (TOMMO)
HGVS:: NC_000009.12:g.128808407_128808408del, NC_000009.11:g.131570686_131570687del, NM_018201.5:c.*528_*529del, NM_018201.4:c.*528_*529del, NM_018201.3:c.*528_*529del, XM_005252060.3:c.*528_*529del, XM_005252060.2:c.*528_*529del, XM_005252060.1:c.*528_*529del, NM_001286772.2:c.*528_*529del, NM_001286772.1:c.*528_*529del, XM_047423479.1:c.*528_*529del

Select item 14913961985.

rs1491396198 has merged into rs34161473 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 9:128802751 (GRCh38)
9:131565030 (GRCh37)
Canonical SPDI:: NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128802737:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4986/2497 (1000Genomes)
HGVS:: NC_000009.12:g.128802751_128802754del, NC_000009.12:g.128802752_128802754del, NC_000009.12:g.128802753_128802754del, NC_000009.12:g.128802754del, NC_000009.12:g.128802754dup, NC_000009.12:g.128802753_128802754dup, NC_000009.12:g.128802752_128802754dup, NC_000009.12:g.128802751_128802754dup, NC_000009.12:g.128802750_128802754dup, NC_000009.11:g.131565030_131565033del, NC_000009.11:g.131565031_131565033del, NC_000009.11:g.131565032_131565033del, NC_000009.11:g.131565033del, NC_000009.11:g.131565033dup, NC_000009.11:g.131565032_131565033dup, NC_000009.11:g.131565031_131565033dup, NC_000009.11:g.131565030_131565033dup, NC_000009.11:g.131565029_131565033dup

Select item 14913907596.

rs1491390759 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTG [Show Flanks]
Chromosome:: 9:128808407 (GRCh38)
9:131570687 (GRCh37)
Canonical SPDI:: NC_000009.12:128808407:CGTGTG:CGTGTGCGTGTG
Gene:: TBC1D13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: CGTGTGCGTGTG=0./0 (ALFA)
CGTGTG=0.00003/2 (GnomAD)
HGVS:: NC_000009.12:g.128808408_128808413dup, NC_000009.11:g.131570687_131570692dup, NM_018201.5:c.*529_*534dup, NM_018201.4:c.*529_*534dup, NM_018201.3:c.*529_*534dup, XM_005252060.3:c.*529_*534dup, XM_005252060.2:c.*529_*534dup, XM_005252060.1:c.*529_*534dup, NM_001286772.2:c.*529_*534dup, NM_001286772.1:c.*529_*534dup, XM_047423479.1:c.*529_*534dup

Select item 14913203697.

rs1491320369 has merged into rs11313742 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:128786149 (GRCh38)
9:131548428 (GRCh37)
Canonical SPDI:: NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:128786141:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBC1D13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (TWINSUK)
T=0.2/8 (GENOME_DK)
HGVS:: NC_000009.12:g.128786149_128786157del, NC_000009.12:g.128786150_128786157del, NC_000009.12:g.128786152_128786157del, NC_000009.12:g.128786153_128786157del, NC_000009.12:g.128786154_128786157del, NC_000009.12:g.128786155_128786157del, NC_000009.12:g.128786156_128786157del, NC_000009.12:g.128786157del, NC_000009.12:g.128786157dup, NC_000009.12:g.128786156_128786157dup, NC_000009.12:g.128786155_128786157dup, NC_000009.12:g.128786154_128786157dup, NC_000009.12:g.128786152_128786157dup, NC_000009.12:g.128786149_128786157dup, NC_000009.11:g.131548428_131548436del, NC_000009.11:g.131548429_131548436del, NC_000009.11:g.131548431_131548436del, NC_000009.11:g.131548432_131548436del, NC_000009.11:g.131548433_131548436del, NC_000009.11:g.131548434_131548436del, NC_000009.11:g.131548435_131548436del, NC_000009.11:g.131548436del, NC_000009.11:g.131548436dup, NC_000009.11:g.131548435_131548436dup, NC_000009.11:g.131548434_131548436dup, NC_000009.11:g.131548433_131548436dup, NC_000009.11:g.131548431_131548436dup, NC_000009.11:g.131548428_131548436dup

Select item 14912732318.

rs1491273231 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTT [Show Flanks]
Chromosome:: 9:128785745 (GRCh38)
9:131548025 (GRCh37)
Canonical SPDI:: NC_000009.12:128785745:TTTT:TTTTCTTTT
Gene:: TBC1D13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TTTTCTTTT=0./0 (ALFA)
TTTTC=0.04/2 (GnomAD)
HGVS:: NC_000009.12:g.128785746_128785749T[4]CTTTT[1], NC_000009.11:g.131548025_131548028T[4]CTTTT[1]

Select item 14911936089.

rs1491193608 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:128802737 (GRCh38)
9:131565016 (GRCh37)
Canonical SPDI:: NC_000009.12:128802736:AT:
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.128802737_128802738del, NC_000009.11:g.131565016_131565017del

Select item 149117770710.

rs1491177707 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 9:128808456 (GRCh38)
9:131570735 (GRCh37)
Canonical SPDI:: NC_000009.12:128808455:TT:
Gene:: TBC1D13 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.128808456_128808457del, NC_000009.11:g.131570735_131570736del, NM_018201.5:c.*577_*578del, NM_018201.4:c.*577_*578del, NM_018201.3:c.*577_*578del, XM_005252060.3:c.*577_*578del, XM_005252060.2:c.*577_*578del, XM_005252060.1:c.*577_*578del, NM_001286772.2:c.*577_*578del, NM_001286772.1:c.*577_*578del, XM_047423479.1:c.*577_*578del

Select item 149103551311.

rs1491035513 has merged into rs10658153 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:128790266 (GRCh38)
9:131552545 (GRCh37)
Canonical SPDI:: NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:128790257:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.128790266_128790276del, NC_000009.12:g.128790270_128790276del, NC_000009.12:g.128790272_128790276del, NC_000009.12:g.128790273_128790276del, NC_000009.12:g.128790274_128790276del, NC_000009.12:g.128790275_128790276del, NC_000009.12:g.128790276del, NC_000009.12:g.128790276dup, NC_000009.12:g.128790275_128790276dup, NC_000009.12:g.128790274_128790276dup, NC_000009.12:g.128790273_128790276dup, NC_000009.12:g.128790272_128790276dup, NC_000009.12:g.128790271_128790276dup, NC_000009.12:g.128790269_128790276dup, NC_000009.11:g.131552545_131552555del, NC_000009.11:g.131552549_131552555del, NC_000009.11:g.131552551_131552555del, NC_000009.11:g.131552552_131552555del, NC_000009.11:g.131552553_131552555del, NC_000009.11:g.131552554_131552555del, NC_000009.11:g.131552555del, NC_000009.11:g.131552555dup, NC_000009.11:g.131552554_131552555dup, NC_000009.11:g.131552553_131552555dup, NC_000009.11:g.131552552_131552555dup, NC_000009.11:g.131552551_131552555dup, NC_000009.11:g.131552550_131552555dup, NC_000009.11:g.131552548_131552555dup

Select item 149096757512.

rs1490967575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128796673 (GRCh38)
9:131558952 (GRCh37)
Canonical SPDI:: NC_000009.12:128796672:C:T
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.128796673C>T, NC_000009.11:g.131558952C>T

Select item 149087821113.

rs1490878211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128787233 (GRCh38)
9:131549512 (GRCh37)
Canonical SPDI:: NC_000009.12:128787232:G:A
Gene:: TBC1D13 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.128787233G>A, NC_000009.11:g.131549512G>A, NM_018201.4:c.-121G>A, NM_018201.3:c.-121G>A, NM_001286772.1:c.-121G>A

Select item 149086084914.

rs1490860849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:128795771 (GRCh38)
9:131558050 (GRCh37)
Canonical SPDI:: NC_000009.12:128795770:T:A
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128795771T>A, NC_000009.11:g.131558050T>A

Select item 149078910615.

rs1490789106 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:128804743 (GRCh38)
9:131567022 (GRCh37)
Canonical SPDI:: NC_000009.12:128804742:T:G
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.0002/1 (ALFA)
HGVS:: NC_000009.12:g.128804743T>G, NC_000009.11:g.131567022T>G

Select item 149078509516.

rs1490785095 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:128803226 (GRCh38)
9:131565505 (GRCh37)
Canonical SPDI:: NC_000009.12:128803225:T:C
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128803226T>C, NC_000009.11:g.131565505T>C

Select item 149061350517.

rs1490613505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128787682 (GRCh38)
9:131549961 (GRCh37)
Canonical SPDI:: NC_000009.12:128787681:C:T
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
HGVS:: NC_000009.12:g.128787682C>T, NC_000009.11:g.131549961C>T

Select item 149050664818.

rs1490506648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128793207 (GRCh38)
9:131555486 (GRCh37)
Canonical SPDI:: NC_000009.12:128793206:G:A
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000009.12:g.128793207G>A, NC_000009.11:g.131555486G>A

Select item 149049094019.

rs1490490940 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:128790412 (GRCh38)
9:131552691 (GRCh37)
Canonical SPDI:: NC_000009.12:128790411:AAAAA:AAAA
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000071/1 (ALFA)
-=0.000064/17 (TOPMED)
-=0.000079/11 (GnomAD)
HGVS:: NC_000009.12:g.128790416del, NC_000009.11:g.131552695del

Select item 149035464020.

rs1490354640 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:128803846 (GRCh38)
9:131566125 (GRCh37)
Canonical SPDI:: NC_000009.12:128803845:A:C,NC_000009.12:128803845:A:G
Gene:: TBC1D13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.128803846A>C, NC_000009.12:g.128803846A>G, NC_000009.11:g.131566125A>C, NC_000009.11:g.131566125A>G

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