Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1490941590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 16:15125691
(GRCh38)
16:15219548
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15125690:C:G
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000005/1
(GnomAD_exomes)
- HGVS:
2.
rs1490889734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:15127491
(GRCh38)
16:15221348
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15127490:G:A
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000006/1
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
A=0.000038/10
(TOPMED)
- HGVS:
3.
rs1490831801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:15135306
(GRCh38)
16:15229163
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15135305:G:A
- Gene:
- PDXDC1 (Varview), MIR6511B2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1490442831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:15131414
(GRCh38)
16:15225271
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15131413:G:A
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
5.
rs1490266928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:15135697
(GRCh38)
16:15229554
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15135696:G:A
- Gene:
- PDXDC1 (Varview), MIR6511B2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489773612 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:15106138
(GRCh38)
16:15199995
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15106137:C:A,NC_000016.10:15106137:C:T
- Gene:
- PDXDC1 (Varview), LOC100505915 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00002/1
(GnomAD_exomes)
T=0.00003/2
(GnomAD)
- HGVS:
NC_000016.10:g.15106138C>A, NC_000016.10:g.15106138C>T, NC_000016.9:g.15199995C>A, NC_000016.9:g.15199995C>T, NG_032198.4:g.17461G>T, NG_032198.4:g.17461G>A, NT_187607.1:g.563605G>T, NT_187607.1:g.563605G>A, NM_001282511.3:c.619G>T, NM_001282511.3:c.619G>A, NM_001282511.2:c.619G>T, NM_001282511.2:c.619G>A, NM_001282511.1:c.619G>T, NM_001282511.1:c.619G>A, NR_123722.1:n.2573G>T, NR_123722.1:n.2573G>A, NR_123721.1:n.4712G>T, NR_123721.1:n.4712G>A
7.
rs1489343377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 16:15135744
(GRCh38)
16:15229601
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15135743:G:T
- Gene:
- PDXDC1 (Varview), MIR6511B2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1488848473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:15107385
(GRCh38)
16:15201242
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15107384:C:A,NC_000016.10:15107384:C:T
- Gene:
- PDXDC1 (Varview), LOC100505915 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000016.10:g.15107385C>A, NC_000016.10:g.15107385C>T, NC_000016.9:g.15201242C>A, NC_000016.9:g.15201242C>T, NG_032198.4:g.16214G>T, NG_032198.4:g.16214G>A, NT_187607.1:g.562349G>T, NT_187607.1:g.562349G>A, NM_001282511.3:c.490G>T, NM_001282511.3:c.490G>A, NM_001282511.2:c.490G>T, NM_001282511.2:c.490G>A, NM_001282511.1:c.490G>T, NM_001282511.1:c.490G>A, NR_123722.1:n.2444G>T, NR_123722.1:n.2444G>A, NR_123721.1:n.4583G>T, NR_123721.1:n.4583G>A
10.
rs1487850606 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:15136682
(GRCh38)
16:15230539
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15136681:C:A
- Gene:
- PDXDC1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487709416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:15127486
(GRCh38)
16:15221343
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15127485:C:T
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000006/1
(GnomAD_exomes)
- HGVS:
12.
rs1487466414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:15136614
(GRCh38)
16:15230471
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15136613:C:A,NC_000016.10:15136613:C:T
- Gene:
- PDXDC1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
T=0.000319/5
(TOMMO)
- HGVS:
13.
rs1487433758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:15132736
(GRCh38)
16:15226593
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15132735:C:T
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000034/9
(TOPMED)
T=0.000283/5
(TOMMO)
T=0.001371/4
(KOREAN)
- HGVS:
14.
rs1487308049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:15104390
(GRCh38)
16:15198247
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15104389:G:A
- Gene:
- PDXDC1 (Varview), LOC100505915 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1486925630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:15130313
(GRCh38)
16:15224170
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15130312:C:G,NC_000016.10:15130312:C:T
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,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:
NC_000016.10:g.15130313C>G, NC_000016.10:g.15130313C>T, NC_000016.9:g.15224170C>G, NC_000016.9:g.15224170C>T, NG_002799.5:g.24661G>C, NG_002799.5:g.24661G>A, NT_187607.1:g.534942G>C, NT_187607.1:g.534942G>A, NR_123722.1:n.814G>C, NR_123722.1:n.814G>A, NR_123721.1:n.2953G>C, NR_123721.1:n.2953G>A
17.
rs1486874434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:15128373
(GRCh38)
16:15222230
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15128372:C:T
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1486775950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:15132689
(GRCh38)
16:15226546
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15132688:C:A,NC_000016.10:15132688:C:T
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000079/11
(GnomAD)
T=0.000156/1
(1000Genomes)
T=0.000685/2
(KOREAN)
- HGVS:
19.
rs1486708851 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 16:15130060
(GRCh38)
16:15223917
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15130059:T:A,NC_000016.10:15130059:T:C
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00007/1
(
ALFA)
C=0.00003/2
(GnomAD_exomes)
- HGVS:
NC_000016.10:g.15130060T>A, NC_000016.10:g.15130060T>C, NC_000016.9:g.15223917T>A, NC_000016.9:g.15223917T>C, NG_002799.5:g.24914A>T, NG_002799.5:g.24914A>G, NT_187607.1:g.535195A>T, NT_187607.1:g.535195A>G, NR_123722.1:n.943A>T, NR_123722.1:n.943A>G, NR_123721.1:n.3082A>T, NR_123721.1:n.3082A>G
20.
rs1486588780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:15132997
(GRCh38)
16:15226854
(GRCh37)
- Canonical SPDI:
- NC_000016.10:15132996:C:T
- Gene:
- PDXDC1 (Varview), PKD1P6-NPIPP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS: