Links from Gene
Items: 1 to 20 of 1000
1.
rs1491459508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 20:64057970
(GRCh38)
20:62689323
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64057967:CACA:CA
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
2.
rs1491420817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 20:64057968
(GRCh38)
20:62689322
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64057968:A:AA
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1491376206 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 20:64071364
(GRCh38)
20:62702717
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64071361:AGAG:AG
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0.000142/2
(
ALFA)
-=0.000072/10
(GnomAD)
- HGVS:
4.
rs1491372756 has merged into rs59536066 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 20:64043422
(GRCh38)
20:62674775
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:64043408:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000020.11:g.64043422_64043434del, NC_000020.11:g.64043423_64043434del, NC_000020.11:g.64043424_64043434del, NC_000020.11:g.64043425_64043434del, NC_000020.11:g.64043426_64043434del, NC_000020.11:g.64043427_64043434del, NC_000020.11:g.64043428_64043434del, NC_000020.11:g.64043429_64043434del, NC_000020.11:g.64043430_64043434del, NC_000020.11:g.64043431_64043434del, NC_000020.11:g.64043432_64043434del, NC_000020.11:g.64043433_64043434del, NC_000020.11:g.64043434del, NC_000020.11:g.64043434dup, NC_000020.11:g.64043433_64043434dup, NC_000020.11:g.64043432_64043434dup, NC_000020.11:g.64043431_64043434dup, NC_000020.11:g.64043430_64043434dup, NC_000020.11:g.64043429_64043434dup, NC_000020.10:g.62674775_62674787del, NC_000020.10:g.62674776_62674787del, NC_000020.10:g.62674777_62674787del, NC_000020.10:g.62674778_62674787del, NC_000020.10:g.62674779_62674787del, NC_000020.10:g.62674780_62674787del, NC_000020.10:g.62674781_62674787del, NC_000020.10:g.62674782_62674787del, NC_000020.10:g.62674783_62674787del, NC_000020.10:g.62674784_62674787del, NC_000020.10:g.62674785_62674787del, NC_000020.10:g.62674786_62674787del, NC_000020.10:g.62674787del, NC_000020.10:g.62674787dup, NC_000020.10:g.62674786_62674787dup, NC_000020.10:g.62674785_62674787dup, NC_000020.10:g.62674784_62674787dup, NC_000020.10:g.62674783_62674787dup, NC_000020.10:g.62674782_62674787dup
5.
rs1491365546 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 20:64055308
(GRCh38)
20:62686662
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64055308:T:TT
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491352661 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:64046968
(GRCh38)
20:62678322
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64046968:G:GG
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000022/3
(GnomAD)
- HGVS:
8.
rs1491224672 has merged into rs557948739 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA
[Show Flanks]
- Chromosome:
- 20:64046973
(GRCh38)
20:62678326
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64046967:AGAGAGAGA:AGAGA,NC_000020.11:64046967:AGAGAGAGA:AGAGAGA,NC_000020.11:64046967:AGAGAGAGA:AGAGAGAGAGA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGA=0./0
(
ALFA)
-=0.0016/8
(1000Genomes)
-=0.025/1
(GENOME_DK)
- HGVS:
10.
rs1490616167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:64064476
(GRCh38)
20:62695829
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64064475:G:A
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490562538 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 20:64052397
(GRCh38)
20:62683751
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64052397::G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490558155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:64055146
(GRCh38)
20:62686499
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64055145:A:G
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
13.
rs1490498077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:64046653
(GRCh38)
20:62678006
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64046652:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
15.
rs1490396434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:64065261
(GRCh38)
20:62696614
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64065260:A:G
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490379137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:64041827
(GRCh38)
20:62673180
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64041826:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490320572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:64063359
(GRCh38)
20:62694712
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64063358:A:G
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000013/2
(GnomAD_exomes)
- HGVS:
NC_000020.11:g.64063359A>G, NC_000020.10:g.62694712A>G, NM_003195.6:c.47A>G, NM_003195.5:c.47A>G, NM_003195.4:c.47A>G, XM_005260229.5:c.47A>G, XM_005260229.4:c.47A>G, XM_005260229.3:c.47A>G, XM_005260229.2:c.47A>G, XM_005260229.1:c.47A>G, XM_024451983.2:c.-93A>G, XM_024451983.1:c.-93A>G, XM_024451985.2:c.-67A>G, XM_024451985.1:c.-67A>G, XM_047440431.1:c.-1003A>G, XM_047440435.1:c.-496A>G, XM_047440439.1:c.-470A>G, XM_047440441.1:c.-670A>G, XM_047440440.1:c.-105A>G, NP_003186.1:p.Asp16Gly, XP_005260286.1:p.Asp16Gly
18.
rs1490297439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:64042559
(GRCh38)
20:62673912
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64042558:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490293378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:64065190
(GRCh38)
20:62696543
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64065189:G:A
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.00003/8
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
20.
rs1490159661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 20:64065078
(GRCh38)
20:62696431
(GRCh37)
- Canonical SPDI:
- NC_000020.11:64065077:G:T
- Gene:
- TCEA2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: