Links from Nucleotide
Items: 1 to 20 of 248
3.
rs1487108170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238225459
(GRCh38)
2:239134100
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225458:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1483592928 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGCCCGC
[Show Flanks]
- Chromosome:
- 2:238231407
(GRCh38)
2:239140049
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238231407:CCCGCAGCCCGC:CCCGCAGCCCGCAGCCCGC
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCGCAGCCCGCAGCCCGC=0./0
(
ALFA)
CCCGCAG=0.000007/1
(GnomAD)
CCCGCAG=0.000011/3
(TOPMED)
- HGVS:
5.
rs1480054482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:238225176
(GRCh38)
2:239133817
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225175:A:C,NC_000002.12:238225175:A:G
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
6.
rs1479777623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:238225454
(GRCh38)
2:239134095
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225453:T:C
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
10.
rs1472154495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:238231608
(GRCh38)
2:239140249
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238231607:A:C
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
11.
rs1468507448 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:238225402
(GRCh38)
2:239134043
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225401:G:C
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000047/1
(
ALFA)
C=0.000007/1
(GnomAD_exomes)
- HGVS:
12.
rs1467930117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:238225465
(GRCh38)
2:239134106
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225464:G:A,NC_000002.12:238225464:G:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD_exomes)
T=0.000223/1
(Estonian)
- HGVS:
13.
rs1466051937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 2:238225347
(GRCh38)
2:239133988
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225346:C:A,NC_000002.12:238225346:C:G,NC_000002.12:238225346:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.238225347C>A, NC_000002.12:g.238225347C>G, NC_000002.12:g.238225347C>T, NC_000002.11:g.239133988C>A, NC_000002.11:g.239133988C>G, NC_000002.11:g.239133988C>T, NR_026925.1:n.1725G>T, NR_026925.1:n.1725G>C, NR_026925.1:n.1725G>A, NR_026926.1:n.612G>T, NR_026926.1:n.612G>C, NR_026926.1:n.612G>A
14.
rs1461924656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238225424
(GRCh38)
2:239134065
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225423:G:A
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
15.
rs1454274031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238227758
(GRCh38)
2:239136399
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238227757:G:A
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1453631694 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238225369
(GRCh38)
2:239134010
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225368:C:T
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD_exomes)
- HGVS:
17.
rs1452796319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238231406
(GRCh38)
2:239140047
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238231405:G:A
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1450949891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238225325
(GRCh38)
2:239133966
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238225324:G:A
- Gene:
- LINC02610 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
19.
rs1449113486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:238231409
(GRCh38)
2:239140050
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238231408:C:T
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_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:
20.
rs1444534555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:238231658
(GRCh38)
2:239140299
(GRCh37)
- Canonical SPDI:
- NC_000002.12:238231657:G:A
- Gene:
- LINC02610 (Varview), TARDBPP3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000019/2
(GnomAD)
- HGVS: