Links from Gene
Items: 1 to 20 of 1000
1.
rs1491252062 has merged into rs10670677 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:42384164
(GRCh38)
21:43804273
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAA,NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:42384156:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- intron_variant
- Clinical significance:
- benign
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000021.9:g.42384164_42384170del, NC_000021.9:g.42384169_42384170del, NC_000021.9:g.42384170del, NC_000021.9:g.42384170dup, NC_000021.9:g.42384169_42384170dup, NC_000021.9:g.42384168_42384170dup, NC_000021.9:g.42384167_42384170dup, NC_000021.8:g.43804273_43804279del, NC_000021.8:g.43804278_43804279del, NC_000021.8:g.43804279del, NC_000021.8:g.43804279dup, NC_000021.8:g.43804278_43804279dup, NC_000021.8:g.43804277_43804279dup, NC_000021.8:g.43804276_43804279dup, NG_011629.2:g.16929_16935del, NG_011629.2:g.16934_16935del, NG_011629.2:g.16935del, NG_011629.2:g.16935dup, NG_011629.2:g.16934_16935dup, NG_011629.2:g.16933_16935dup, NG_011629.2:g.16932_16935dup
2.
rs1491184216 has merged into rs138713556 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 21:42395680
(GRCh38)
21:43815789
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000021.9:42395669:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.2648/1326
(1000Genomes)
- HGVS:
NC_000021.9:g.42395680_42395690del, NC_000021.9:g.42395681_42395690del, NC_000021.9:g.42395682_42395690del, NC_000021.9:g.42395683_42395690del, NC_000021.9:g.42395684_42395690del, NC_000021.9:g.42395685_42395690del, NC_000021.9:g.42395686_42395690del, NC_000021.9:g.42395687_42395690del, NC_000021.9:g.42395688_42395690del, NC_000021.9:g.42395689_42395690del, NC_000021.9:g.42395690del, NC_000021.9:g.42395690dup, NC_000021.9:g.42395689_42395690dup, NC_000021.9:g.42395688_42395690dup, NC_000021.9:g.42395687_42395690dup, NC_000021.9:g.42395686_42395690dup, NC_000021.9:g.42395685_42395690dup, NC_000021.9:g.42395684_42395690dup, NC_000021.9:g.42395682_42395690dup, NC_000021.9:g.42395679_42395690dup, NC_000021.8:g.43815789_43815799del, NC_000021.8:g.43815790_43815799del, NC_000021.8:g.43815791_43815799del, NC_000021.8:g.43815792_43815799del, NC_000021.8:g.43815793_43815799del, NC_000021.8:g.43815794_43815799del, NC_000021.8:g.43815795_43815799del, NC_000021.8:g.43815796_43815799del, NC_000021.8:g.43815797_43815799del, NC_000021.8:g.43815798_43815799del, NC_000021.8:g.43815799del, NC_000021.8:g.43815799dup, NC_000021.8:g.43815798_43815799dup, NC_000021.8:g.43815797_43815799dup, NC_000021.8:g.43815796_43815799dup, NC_000021.8:g.43815795_43815799dup, NC_000021.8:g.43815794_43815799dup, NC_000021.8:g.43815793_43815799dup, NC_000021.8:g.43815791_43815799dup, NC_000021.8:g.43815788_43815799dup, NG_011629.2:g.5412_5422del, NG_011629.2:g.5413_5422del, NG_011629.2:g.5414_5422del, NG_011629.2:g.5415_5422del, NG_011629.2:g.5416_5422del, NG_011629.2:g.5417_5422del, NG_011629.2:g.5418_5422del, NG_011629.2:g.5419_5422del, NG_011629.2:g.5420_5422del, NG_011629.2:g.5421_5422del, NG_011629.2:g.5422del, NG_011629.2:g.5422dup, NG_011629.2:g.5421_5422dup, NG_011629.2:g.5420_5422dup, NG_011629.2:g.5419_5422dup, NG_011629.2:g.5418_5422dup, NG_011629.2:g.5417_5422dup, NG_011629.2:g.5416_5422dup, NG_011629.2:g.5414_5422dup, NG_011629.2:g.5411_5422dup
4.
rs1490884010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 21:42392229
(GRCh38)
21:43812338
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42392228:C:A
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000064/9
(GnomAD)
A=0.000094/25
(TOPMED)
- HGVS:
5.
rs1490726902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42373170
(GRCh38)
21:43793279
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42373169:C:T
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490689884 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:42396355
(GRCh38)
21:43816464
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42396354:A:G
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
G=0.000008/1
(GnomAD_exomes)
- HGVS:
7.
rs1490204998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:42371959
(GRCh38)
21:43792068
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42371958:A:G
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000021.9:g.42371959A>G, NC_000021.8:g.43792068A>G, NG_011629.2:g.29133T>C, NM_024022.4:c.*803T>C, NM_024022.3:c.*803T>C, NM_024022.2:c.*803T>C, NM_001256317.3:c.*803T>C, NM_001256317.2:c.*803T>C, NM_001256317.1:c.*803T>C, NM_032404.3:c.*803T>C, NM_032404.2:c.*803T>C, NR_046020.1:n.3124T>C, NM_032401.1:c.*803T>C, NM_022364.1:c.*803T>C, NR_027348.1:n.2062T>C
8.
rs1490200595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42396790
(GRCh38)
21:43816899
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42396789:C:T
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000016/2
(GnomAD_exomes)
- HGVS:
9.
rs1490016189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42392189
(GRCh38)
21:43812298
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42392188:C:T
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_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:
10.
rs1489993525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:42378420
(GRCh38)
21:43798529
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42378419:A:T
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1489938106 has merged into rs11306720 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 21:42393263
(GRCh38)
21:43813372
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42393253:AAAAAAAAAAA:AAAAAAAAA,NC_000021.9:42393253:AAAAAAAAAAA:AAAAAAAAAA,NC_000021.9:42393253:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.0933/56
(NorthernSweden)
A=0.1046/403
(ALSPAC)
A=0.1111/412
(TWINSUK)
A=0.1202/120
(GoNL)
A=0.1222/612
(1000Genomes)
A=0.15/6
(GENOME_DK)
A=0.2385/437
(Korea1K)
- HGVS:
12.
rs1489904248 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:42394299
(GRCh38)
21:43814408
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42394298:G:A
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
13.
rs1489726078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:42387338
(GRCh38)
21:43807447
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42387337:A:G
- Gene:
- TMPRSS3 (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:
14.
rs1489452239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 21:42371531
(GRCh38)
21:43791640
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42371530:A:C,NC_000021.9:42371530:A:G
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489355681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:42395311
(GRCh38)
21:43815420
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42395310:T:C
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489323728 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 21:42394367
(GRCh38)
21:43814477
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42394367:AAAAAA:AAAAAAA
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1489266732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:42380482
(GRCh38)
21:43800591
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42380481:G:A
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489111428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:42372613
(GRCh38)
21:43792722
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42372612:G:A
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000021.9:g.42372613G>A, NC_000021.8:g.43792722G>A, NG_011629.2:g.28479C>T, NM_024022.4:c.*149C>T, NM_024022.3:c.*149C>T, NM_024022.2:c.*149C>T, NM_001256317.3:c.*149C>T, NM_001256317.2:c.*149C>T, NM_001256317.1:c.*149C>T, NM_032404.3:c.*149C>T, NM_032404.2:c.*149C>T, NR_046020.1:n.2470C>T, NM_032401.1:c.*149C>T, NM_022364.1:c.*149C>T, NR_027348.1:n.1408C>T
19.
rs1488990459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:42381350
(GRCh38)
21:43801459
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42381349:G:A
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488926621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:42388636
(GRCh38)
21:43808745
(GRCh37)
- Canonical SPDI:
- NC_000021.9:42388635:C:T
- Gene:
- TMPRSS3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS: