SNP Links for Gene (Select 6903) - SNP

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Select item 14910425441.

rs1491042544 has merged into rs35511368 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:42748114 (GRCh38)
6:42715852 (GRCh37)
Canonical SPDI:: NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:42748104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000006.12:g.42748114_42748125del, NC_000006.12:g.42748115_42748125del, NC_000006.12:g.42748116_42748125del, NC_000006.12:g.42748118_42748125del, NC_000006.12:g.42748119_42748125del, NC_000006.12:g.42748120_42748125del, NC_000006.12:g.42748121_42748125del, NC_000006.12:g.42748123_42748125del, NC_000006.12:g.42748124_42748125del, NC_000006.12:g.42748125del, NC_000006.12:g.42748125dup, NC_000006.12:g.42748124_42748125dup, NC_000006.12:g.42748123_42748125dup, NC_000006.12:g.42748122_42748125dup, NC_000006.12:g.42748121_42748125dup, NC_000006.12:g.42748120_42748125dup, NC_000006.11:g.42715852_42715863del, NC_000006.11:g.42715853_42715863del, NC_000006.11:g.42715854_42715863del, NC_000006.11:g.42715856_42715863del, NC_000006.11:g.42715857_42715863del, NC_000006.11:g.42715858_42715863del, NC_000006.11:g.42715859_42715863del, NC_000006.11:g.42715861_42715863del, NC_000006.11:g.42715862_42715863del, NC_000006.11:g.42715863del, NC_000006.11:g.42715863dup, NC_000006.11:g.42715862_42715863dup, NC_000006.11:g.42715861_42715863dup, NC_000006.11:g.42715860_42715863dup, NC_000006.11:g.42715859_42715863dup, NC_000006.11:g.42715858_42715863dup, NG_054763.1:g.6157_6168del, NG_054763.1:g.6158_6168del, NG_054763.1:g.6159_6168del, NG_054763.1:g.6161_6168del, NG_054763.1:g.6162_6168del, NG_054763.1:g.6163_6168del, NG_054763.1:g.6164_6168del, NG_054763.1:g.6166_6168del, NG_054763.1:g.6167_6168del, NG_054763.1:g.6168del, NG_054763.1:g.6168dup, NG_054763.1:g.6167_6168dup, NG_054763.1:g.6166_6168dup, NG_054763.1:g.6165_6168dup, NG_054763.1:g.6164_6168dup, NG_054763.1:g.6163_6168dup

Select item 14907009752.

rs1490700975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:42744487 (GRCh38)
6:42712225 (GRCh37)
Canonical SPDI:: NC_000006.12:42744486:A:C
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.42744487A>C, NC_000006.11:g.42712225A>C, NG_054763.1:g.2530A>C

Select item 14902837763.

rs1490283776 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42744691 (GRCh38)
6:42712429 (GRCh37)
Canonical SPDI:: NC_000006.12:42744690:A:G
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_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.42744691A>G, NC_000006.11:g.42712429A>G, NG_054763.1:g.2734A>G, NM_003192.3:c.*342T>C, NM_003192.2:c.*342T>C

Select item 14899047774.

rs1489904777 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42744214 (GRCh38)
6:42711952 (GRCh37)
Canonical SPDI:: NC_000006.12:42744213:C:T
Gene:: TBCC (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.42744214C>T, NC_000006.11:g.42711952C>T, NG_054763.1:g.2257C>T

Select item 14878198215.

rs1487819821 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTTTGTTT>- [Show Flanks]
Chromosome:: 6:42747800 (GRCh38)
6:42715538 (GRCh37)
Canonical SPDI:: NC_000006.12:42747796:TTTATTTTGTTT:TTT
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.000084/1 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.42747800_42747808del, NC_000006.11:g.42715538_42715546del, NG_054763.1:g.5843_5851del

Select item 14874377716.

rs1487437771 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 6:42745595 (GRCh38)
6:42713333 (GRCh37)
Canonical SPDI:: NC_000006.12:42745594:GGGGGG:GGGGG
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
HGVS:: NC_000006.12:g.42745600del, NC_000006.11:g.42713338del, NG_054763.1:g.3643del, NM_003192.3:c.479del, NM_003192.2:c.479del, NP_003183.2:p.Pro160fs

Select item 14869507137.

rs1486950713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:42746631 (GRCh38)
6:42714369 (GRCh37)
Canonical SPDI:: NC_000006.12:42746630:T:G
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42746631T>G, NC_000006.11:g.42714369T>G, NG_054763.1:g.4674T>G

Select item 14863902928.

rs1486390292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42745231 (GRCh38)
6:42712969 (GRCh37)
Canonical SPDI:: NC_000006.12:42745230:C:T
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42745231C>T, NC_000006.11:g.42712969C>T, NG_054763.1:g.3274C>T, NM_003192.3:c.843G>A, NM_003192.2:c.843G>A

Select item 14863615349.

rs1486361534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:42745831 (GRCh38)
6:42713569 (GRCh37)
Canonical SPDI:: NC_000006.12:42745830:G:A,NC_000006.12:42745830:G:T
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42745831G>A, NC_000006.12:g.42745831G>T, NC_000006.11:g.42713569G>A, NC_000006.11:g.42713569G>T, NG_054763.1:g.3874G>A, NG_054763.1:g.3874G>T, NM_003192.3:c.243C>T, NM_003192.3:c.243C>A, NM_003192.2:c.243C>T, NM_003192.2:c.243C>A

Select item 148612228410.

rs1486122284 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42746704 (GRCh38)
6:42714442 (GRCh37)
Canonical SPDI:: NC_000006.12:42746703:C:T
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_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.42746704C>T, NC_000006.11:g.42714442C>T, NG_054763.1:g.4747C>T

Select item 148596647211.

rs1485966472 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42745900 (GRCh38)
6:42713638 (GRCh37)
Canonical SPDI:: NC_000006.12:42745899:G:A
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42745900G>A, NC_000006.11:g.42713638G>A, NG_054763.1:g.3943G>A, NM_003192.3:c.174C>T, NM_003192.2:c.174C>T

Select item 148502731712.

rs1485027317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42748031 (GRCh38)
6:42715769 (GRCh37)
Canonical SPDI:: NC_000006.12:42748030:C:T
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42748031C>T, NC_000006.11:g.42715769C>T, NG_054763.1:g.6074C>T

Select item 148499866313.

rs1484998663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:42747296 (GRCh38)
6:42715034 (GRCh37)
Canonical SPDI:: NC_000006.12:42747295:G:A,NC_000006.12:42747295:G:T
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42747296G>A, NC_000006.12:g.42747296G>T, NC_000006.11:g.42715034G>A, NC_000006.11:g.42715034G>T, NG_054763.1:g.5339G>A, NG_054763.1:g.5339G>T

Select item 148495955114.

rs1484959551 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:42747805 (GRCh38)
6:42715543 (GRCh37)
Canonical SPDI:: NC_000006.12:42747804:G:
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000076/10 (GnomAD)
-=0.000396/7 (TOMMO)
HGVS:: NC_000006.12:g.42747805del, NC_000006.11:g.42715543del, NG_054763.1:g.5848del

Select item 148449373215.

rs1484493732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:42747035 (GRCh38)
6:42714773 (GRCh37)
Canonical SPDI:: NC_000006.12:42747034:G:A,NC_000006.12:42747034:G:T
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.42747035G>A, NC_000006.12:g.42747035G>T, NC_000006.11:g.42714773G>A, NC_000006.11:g.42714773G>T, NG_054763.1:g.5078G>A, NG_054763.1:g.5078G>T, XM_047418542.1:c.-517G>A, XM_047418542.1:c.-517G>T, XM_047418545.1:c.-108G>A, XM_047418545.1:c.-108G>T

Select item 148393892116.

rs1483938921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:42744562 (GRCh38)
6:42712300 (GRCh37)
Canonical SPDI:: NC_000006.12:42744561:A:C,NC_000006.12:42744561:A:G
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42744562A>C, NC_000006.12:g.42744562A>G, NC_000006.11:g.42712300A>C, NC_000006.11:g.42712300A>G, NG_054763.1:g.2605A>C, NG_054763.1:g.2605A>G, NM_003192.3:c.*471T>G, NM_003192.3:c.*471T>C, NM_003192.2:c.*471T>G, NM_003192.2:c.*471T>C

Select item 148391139817.

rs1483911398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42745212 (GRCh38)
6:42712950 (GRCh37)
Canonical SPDI:: NC_000006.12:42745211:G:A
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42745212G>A, NC_000006.11:g.42712950G>A, NG_054763.1:g.3255G>A, NM_003192.3:c.862C>T, NM_003192.2:c.862C>T, NP_003183.2:p.Gln288Ter

Select item 148364118518.

rs1483641185 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42744944 (GRCh38)
6:42712682 (GRCh37)
Canonical SPDI:: NC_000006.12:42744943:G:A
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.42744944G>A, NC_000006.11:g.42712682G>A, NG_054763.1:g.2987G>A, NM_003192.3:c.*89C>T, NM_003192.2:c.*89C>T

Select item 148359304419.

rs1483593044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:42747508 (GRCh38)
6:42715246 (GRCh37)
Canonical SPDI:: NC_000006.12:42747507:C:A
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.42747508C>A, NC_000006.11:g.42715246C>A, NG_054763.1:g.5551C>A

Select item 148358421120.

rs1483584211 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:42745656 (GRCh38)
6:42713394 (GRCh37)
Canonical SPDI:: NC_000006.12:42745655:T:C,NC_000006.12:42745655:T:G
Gene:: TBCC (Varview), BICRAL (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.42745656T>C, NC_000006.12:g.42745656T>G, NC_000006.11:g.42713394T>C, NC_000006.11:g.42713394T>G, NG_054763.1:g.3699T>C, NG_054763.1:g.3699T>G, NM_003192.3:c.418A>G, NM_003192.3:c.418A>C, NM_003192.2:c.418A>G, NM_003192.2:c.418A>C, NP_003183.2:p.Lys140Glu, NP_003183.2:p.Lys140Gln

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