Links from Nucleotide
Items: 1 to 20 of 368
1.
rs1485135976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:76523764
(GRCh38)
8:77435999
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523763:G:A
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_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:
2.
rs1483672574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 8:76433650
(GRCh38)
8:77345885
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76433649:G:A,NC_000008.11:76433649:G:C
- Gene:
- LINC01111 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
3.
rs1481642483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:76523560
(GRCh38)
8:77435795
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523559:G:A
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1481364323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:76523335
(GRCh38)
8:77435570
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523334:A:G
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1477926726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:76433689
(GRCh38)
8:77345924
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76433688:A:C
- Gene:
- LINC01111 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1475928786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:76524334
(GRCh38)
8:77436569
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76524333:A:C
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1469512439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 8:76524331
(GRCh38)
8:77436566
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76524330:A:C
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000046/2
(GnomAD)
- HGVS:
8.
rs1468778163 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 8:76523581
(GRCh38)
8:77435817
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523581:AAAAA:AAAAAA
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1468558246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:76406680
(GRCh38)
8:77318915
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76406679:T:A
- Gene:
- LINC01111 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
10.
rs1468376141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:76523677
(GRCh38)
8:77435912
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523676:G:A
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1464218167 has merged into rs1165203329 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAATA>-,ATA,ATAATAATA
[Show Flanks]
- Chromosome:
- 8:76524127
(GRCh38)
8:77436362
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76524119:AATAATAATAATA:AATAATA,NC_000008.11:76524119:AATAATAATAATA:AATAATAATA,NC_000008.11:76524119:AATAATAATAATA:AATAATAATAATAATA
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AATAATAATAATAATA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
12.
rs1454763447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:76523878
(GRCh38)
8:77436113
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523877:C:T
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
13.
rs1453022229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 8:76433646
(GRCh38)
8:77345881
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76433645:A:C,NC_000008.11:76433645:A:G,NC_000008.11:76433645:A:T
- Gene:
- LINC01111 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00014/2
(TOMMO)
- HGVS:
14.
rs1452386166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:76524353
(GRCh38)
8:77436588
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76524352:A:G
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1452252609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:76406675
(GRCh38)
8:77318910
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76406674:G:A
- Gene:
- LINC01111 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
16.
rs1452016133 has merged into rs1003600624 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CAGAATGTG>-,CAGAATGTGCAGAATGTG
[Show Flanks]
- Chromosome:
- 8:76510416
(GRCh38)
8:77422651
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76510401:ATGTGCAGAATGTGCAGAATGTG:ATGTGCAGAATGTG,NC_000008.11:76510401:ATGTGCAGAATGTGCAGAATGTG:ATGTGCAGAATGTGCAGAATGTGCAGAATGTG
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGTGCAGAATGTGCAGAATGTGCAGAATGTG=0./0
(
ALFA)
- HGVS:
19.
rs1443043221 has merged into rs34760266 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 8:76524340
(GRCh38)
8:77436575
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:76524330:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.76524340_76524356del, NC_000008.11:g.76524342_76524356del, NC_000008.11:g.76524343_76524356del, NC_000008.11:g.76524344_76524356del, NC_000008.11:g.76524345_76524356del, NC_000008.11:g.76524346_76524356del, NC_000008.11:g.76524347_76524356del, NC_000008.11:g.76524348_76524356del, NC_000008.11:g.76524349_76524356del, NC_000008.11:g.76524350_76524356del, NC_000008.11:g.76524351_76524356del, NC_000008.11:g.76524352_76524356del, NC_000008.11:g.76524353_76524356del, NC_000008.11:g.76524354_76524356del, NC_000008.11:g.76524355_76524356del, NC_000008.11:g.76524356del, NC_000008.11:g.76524356dup, NC_000008.11:g.76524355_76524356dup, NC_000008.11:g.76524354_76524356dup, NC_000008.11:g.76524353_76524356dup, NC_000008.11:g.76524352_76524356dup, NC_000008.11:g.76524350_76524356dup, NC_000008.11:g.76524349_76524356dup, NC_000008.11:g.76524347_76524356dup, NC_000008.11:g.76524335_76524356dup, NC_000008.10:g.77436575_77436591del, NC_000008.10:g.77436577_77436591del, NC_000008.10:g.77436578_77436591del, NC_000008.10:g.77436579_77436591del, NC_000008.10:g.77436580_77436591del, NC_000008.10:g.77436581_77436591del, NC_000008.10:g.77436582_77436591del, NC_000008.10:g.77436583_77436591del, NC_000008.10:g.77436584_77436591del, NC_000008.10:g.77436585_77436591del, NC_000008.10:g.77436586_77436591del, NC_000008.10:g.77436587_77436591del, NC_000008.10:g.77436588_77436591del, NC_000008.10:g.77436589_77436591del, NC_000008.10:g.77436590_77436591del, NC_000008.10:g.77436591del, NC_000008.10:g.77436591dup, NC_000008.10:g.77436590_77436591dup, NC_000008.10:g.77436589_77436591dup, NC_000008.10:g.77436588_77436591dup, NC_000008.10:g.77436587_77436591dup, NC_000008.10:g.77436585_77436591dup, NC_000008.10:g.77436584_77436591dup, NC_000008.10:g.77436582_77436591dup, NC_000008.10:g.77436570_77436591dup, NR_105006.1:n.1647_1663del, NR_105006.1:n.1649_1663del, NR_105006.1:n.1650_1663del, NR_105006.1:n.1651_1663del, NR_105006.1:n.1652_1663del, NR_105006.1:n.1653_1663del, NR_105006.1:n.1654_1663del, NR_105006.1:n.1655_1663del, NR_105006.1:n.1656_1663del, NR_105006.1:n.1657_1663del, NR_105006.1:n.1658_1663del, NR_105006.1:n.1659_1663del, NR_105006.1:n.1660_1663del, NR_105006.1:n.1661_1663del, NR_105006.1:n.1662_1663del, NR_105006.1:n.1663del, NR_105006.1:n.1663dup, NR_105006.1:n.1662_1663dup, NR_105006.1:n.1661_1663dup, NR_105006.1:n.1660_1663dup, NR_105006.1:n.1659_1663dup, NR_105006.1:n.1657_1663dup, NR_105006.1:n.1656_1663dup, NR_105006.1:n.1654_1663dup, NR_105006.1:n.1642_1663dup
20.
rs1442003447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:76523350
(GRCh38)
8:77435585
(GRCh37)
- Canonical SPDI:
- NC_000008.11:76523349:C:A,NC_000008.11:76523349:C:T
- Gene:
- LINC01111 (Varview), LOC107986952 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS: