Links from Nucleotide
Items: 1 to 20 of 146
1.
rs1488162165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:37265464
(GRCh38)
19:37756366
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265463:C:A,NC_000019.10:37265463:C:T
- Gene:
- LOC284412 (Varview), LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
2.
rs1487801643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37265373
(GRCh38)
19:37756275
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265372:C:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
3.
rs1483709752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37265476
(GRCh38)
19:37756378
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265475:C:T
- Gene:
- LOC284412 (Varview), LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1476563335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:37251927
(GRCh38)
19:37742829
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37251926:C:G
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_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:
6.
rs1473384020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:37251985
(GRCh38)
19:37742887
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37251984:T:A
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1473108259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 19:37255956
(GRCh38)
19:37746858
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37255955:A:G,NC_000019.10:37255955:A:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.37255956A>G, NC_000019.10:g.37255956A>T, NC_000019.9:g.37746858A>G, NC_000019.9:g.37746858A>T, NR_110720.2:n.330A>G, NR_110720.2:n.330A>T, NR_110720.1:n.357A>G, NR_110720.1:n.357A>T, NR_110718.1:n.356A>G, NR_110718.1:n.356A>T, NR_110719.1:n.356A>G, NR_110719.1:n.356A>T
8.
rs1467253229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37255981
(GRCh38)
19:37746883
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37255980:A:G
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1463798815 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATGGGAGCGCCTGCCTAAC>-,ATGGGAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC
[Show Flanks]
- Chromosome:
- 19:37251984
(GRCh38)
19:37742886
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37251968:GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC:GAGCGCCTGCCTAAC,NC_000019.10:37251968:GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC:GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGCGCCTGCCTAACATGGGAGCGCCTGCCTAACATGGGAGCGCCTGCCTAAC=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000106/2
(TOMMO)
- HGVS:
NC_000019.10:g.37251984_37252002del, NC_000019.10:g.37251984_37252002dup, NC_000019.9:g.37742886_37742904del, NC_000019.9:g.37742886_37742904dup, NR_110720.2:n.74_92del, NR_110720.2:n.74_92dup, NR_110720.1:n.101_119del, NR_110720.1:n.101_119dup, NR_110718.1:n.100_118del, NR_110718.1:n.100_118dup, NR_110719.1:n.100_118del, NR_110719.1:n.100_118dup
10.
rs1460558258 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCT
[Show Flanks]
- Chromosome:
- 19:37255903
(GRCh38)
19:37746806
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37255903:CTGCT:CTGCTGCT
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTGCTGCT=0.000071/1
(
ALFA)
CTG=0.000007/1
(GnomAD)
CTG=0.000011/3
(TOPMED)
- HGVS:
11.
rs1456380831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:37265326
(GRCh38)
19:37756228
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265325:A:G
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1456301042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:37265402
(GRCh38)
19:37756304
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265401:A:C
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00034/4
(
ALFA)
C=0.00011/2
(TOMMO)
- HGVS:
13.
rs1447990211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37265357
(GRCh38)
19:37756259
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265356:C:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000071/1
(TOMMO)
T=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1444095596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:37252076
(GRCh38)
19:37742978
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37252075:C:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1443541002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:37251935
(GRCh38)
19:37742837
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37251934:G:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1443163574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:37265307
(GRCh38)
19:37756209
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37265306:C:G
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1442169341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 19:37251934
(GRCh38)
19:37742836
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37251933:G:C,NC_000019.10:37251933:G:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
C=0.000156/1
(1000Genomes)
- HGVS:
NC_000019.10:g.37251934G>C, NC_000019.10:g.37251934G>T, NC_000019.9:g.37742836G>C, NC_000019.9:g.37742836G>T, NR_110720.2:n.24G>C, NR_110720.2:n.24G>T, NR_110720.1:n.51G>C, NR_110720.1:n.51G>T, NR_110718.1:n.50G>C, NR_110718.1:n.50G>T, NR_110719.1:n.50G>C, NR_110719.1:n.50G>T
19.
rs1442153150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:37252100
(GRCh38)
19:37743002
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37252099:G:A,NC_000019.10:37252099:G:C
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.37252100G>A, NC_000019.10:g.37252100G>C, NC_000019.9:g.37743002G>A, NC_000019.9:g.37743002G>C, NR_110720.2:n.190G>A, NR_110720.2:n.190G>C, NR_110720.1:n.217G>A, NR_110720.1:n.217G>C, NR_110718.1:n.216G>A, NR_110718.1:n.216G>C, NR_110719.1:n.216G>A, NR_110719.1:n.216G>C
20.
rs1438021772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:37252108
(GRCh38)
19:37743010
(GRCh37)
- Canonical SPDI:
- NC_000019.10:37252107:A:T
- Gene:
- LINC01535 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: