Links from Gene
Items: 1 to 20 of 1000
2.
rs1491382152 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTTTCTTTCTTTCTT,CTTTCTTTCTTTCTTTCTT,CTTTCTTTCTTTCTTTCTTTCTT,CTTTCTTTCTTTCTTTCTTTCTTTCTT
[Show Flanks]
- Chromosome:
- 10:28858407
(GRCh38)
10:29147337
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTT,NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTTTCTT,NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTTTCTTTCTT,NC_000010.11:28858407:TT:TTCTTTCTTTCTTTCTTTCTTTCTTTCTT
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTTTCTTTCTTTCTTTCTT=0./0
(
ALFA)
TTCTTTCTTTCTTTCTTTCTTTC=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491316920 has merged into rs10718562 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:28877250
(GRCh38)
10:29166179
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:28877239:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.1295/499
(ALSPAC)
-=0.134/497
(TWINSUK)
-=0.4097/2052
(1000Genomes)
- HGVS:
NC_000010.11:g.28877250_28877252del, NC_000010.11:g.28877251_28877252del, NC_000010.11:g.28877252del, NC_000010.11:g.28877252dup, NC_000010.11:g.28877251_28877252dup, NC_000010.11:g.28877250_28877252dup, NC_000010.11:g.28877241_28877252dup, NC_000010.10:g.29166179_29166181del, NC_000010.10:g.29166180_29166181del, NC_000010.10:g.29166181del, NC_000010.10:g.29166181dup, NC_000010.10:g.29166180_29166181dup, NC_000010.10:g.29166179_29166181dup, NC_000010.10:g.29166170_29166181dup
4.
rs1491135300 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 10:28877240
(GRCh38)
10:29166170
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28877240::G
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1491130586 has merged into rs35587006 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 10:28877678
(GRCh38)
10:29166607
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:28877668:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AA=0.3612/1809
(1000Genomes)
- HGVS:
NC_000010.11:g.28877678_28877689del, NC_000010.11:g.28877679_28877689del, NC_000010.11:g.28877680_28877689del, NC_000010.11:g.28877681_28877689del, NC_000010.11:g.28877682_28877689del, NC_000010.11:g.28877683_28877689del, NC_000010.11:g.28877685_28877689del, NC_000010.11:g.28877686_28877689del, NC_000010.11:g.28877687_28877689del, NC_000010.11:g.28877688_28877689del, NC_000010.11:g.28877689del, NC_000010.11:g.28877689dup, NC_000010.11:g.28877688_28877689dup, NC_000010.11:g.28877687_28877689dup, NC_000010.11:g.28877686_28877689dup, NC_000010.11:g.28877685_28877689dup, NC_000010.11:g.28877684_28877689dup, NC_000010.10:g.29166607_29166618del, NC_000010.10:g.29166608_29166618del, NC_000010.10:g.29166609_29166618del, NC_000010.10:g.29166610_29166618del, NC_000010.10:g.29166611_29166618del, NC_000010.10:g.29166612_29166618del, NC_000010.10:g.29166614_29166618del, NC_000010.10:g.29166615_29166618del, NC_000010.10:g.29166616_29166618del, NC_000010.10:g.29166617_29166618del, NC_000010.10:g.29166618del, NC_000010.10:g.29166618dup, NC_000010.10:g.29166617_29166618dup, NC_000010.10:g.29166616_29166618dup, NC_000010.10:g.29166615_29166618dup, NC_000010.10:g.29166614_29166618dup, NC_000010.10:g.29166613_29166618dup
6.
rs1491070437 has merged into rs112530422 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,GGGG
[Show Flanks]
- Chromosome:
- 10:28863645
(GRCh38)
10:29152574
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28863643:GGG:G,NC_000010.11:28863643:GGG:GGGGG
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
-=0.00055/1
(Korea1K)
- HGVS:
7.
rs1490988961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:28858817
(GRCh38)
10:29147746
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28858816:T:C
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490958048 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTT
[Show Flanks]
- Chromosome:
- 10:28882306
(GRCh38)
10:29171236
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28882306::TTTT
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
TTTT=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490841612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 10:28859758
(GRCh38)
10:29148687
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28859757:C:G
- Gene:
- C10orf126 (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:
10.
rs1490788289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:28874101
(GRCh38)
10:29163030
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28874100:A:C
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490692270 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:28867640
(GRCh38)
10:29156569
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28867639:C:T
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000025/3
(GnomAD)
- HGVS:
12.
rs1490627449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:28865955
(GRCh38)
10:29154884
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28865954:T:G
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490519650 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTCT
[Show Flanks]
- Chromosome:
- 10:28849044
(GRCh38)
10:29137974
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28849044:TCTCT:TCTCTCTCT
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCT=0.000224/1
(
ALFA)
TCTC=0.000007/1
(GnomAD)
TCTC=0.000223/1
(Estonian)
- HGVS:
15.
rs1490483408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:28851571
(GRCh38)
10:29140500
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28851570:A:G
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000045/12
(TOPMED)
- HGVS:
16.
rs1490434392 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGTCG
[Show Flanks]
- Chromosome:
- 10:28853445
(GRCh38)
10:29142375
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28853445:CGTGTCG:CGTGTCGTGTCG
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGTGTCGTGTCG=0.000142/2
(
ALFA)
CGTGT=0.00003/8
(TOPMED)
CGTGT=0.000036/5
(GnomAD)
- HGVS:
17.
rs1490351573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:28860183
(GRCh38)
10:29149112
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28860182:T:A
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490345025 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGA>-
[Show Flanks]
- Chromosome:
- 10:28879547
(GRCh38)
10:29168476
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28879544:GAAGA:GA
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GA=0.000071/1
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000038/10
(TOPMED)
- HGVS:
19.
rs1490328888 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 10:28880550
(GRCh38)
10:29169479
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28880549:T:G
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490175340 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 10:28858421
(GRCh38)
10:29147350
(GRCh37)
- Canonical SPDI:
- NC_000010.11:28858420:T:C
- Gene:
- C10orf126 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/2
(GnomAD)
- HGVS: