Links from Nucleotide
Items: 1 to 20 of 4780
1.
rs1491369015 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 19:1496237
(GRCh38)
19:1496236
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1496234:GGGG:GG
- Gene:
- REEP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000005/1
(GnomAD_exomes)
-=0.000009/1
(ExAC)
- HGVS:
2.
rs1490711464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:1488743
(GRCh38)
19:1488742
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1488742:G:C
- Gene:
- PCSK4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490696409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:1489457
(GRCh38)
19:1489456
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1489456:A:C,NC_000019.10:1489456:A:G
- Gene:
- PCSK4 (Varview), REEP6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490629775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:1490583
(GRCh38)
19:1490582
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1490582:T:C
- Gene:
- PCSK4 (Varview), REEP6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490260082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:1499669
(GRCh38)
19:1499668
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1499668:G:A,NC_000019.10:1499668:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489968596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:1495018
(GRCh38)
19:1495017
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1495017:C:A
- Gene:
- REEP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
8.
rs1489737367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:1498388
(GRCh38)
19:1498387
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1498387:G:A
- Gene:
- REEP6 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489665168 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:1499616
(GRCh38)
19:1499615
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1499615:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
10.
rs1489536515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:1495769
(GRCh38)
19:1495768
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1495768:G:A
- Gene:
- REEP6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
11.
rs1489435043 has merged into rs927678016 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:1498493
(GRCh38)
19:1498492
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1498484:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.1498493_1498506del, NC_000019.10:g.1498494_1498506del, NC_000019.10:g.1498495_1498506del, NC_000019.10:g.1498496_1498506del, NC_000019.10:g.1498497_1498506del, NC_000019.10:g.1498498_1498506del, NC_000019.10:g.1498499_1498506del, NC_000019.10:g.1498500_1498506del, NC_000019.10:g.1498501_1498506del, NC_000019.10:g.1498502_1498506del, NC_000019.10:g.1498503_1498506del, NC_000019.10:g.1498504_1498506del, NC_000019.10:g.1498505_1498506del, NC_000019.10:g.1498506del, NC_000019.10:g.1498506dup, NC_000019.10:g.1498505_1498506dup, NC_000019.10:g.1498504_1498506dup, NC_000019.10:g.1498503_1498506dup, NC_000019.10:g.1498502_1498506dup, NC_000019.10:g.1498501_1498506dup, NC_000019.9:g.1498492_1498505del, NC_000019.9:g.1498493_1498505del, NC_000019.9:g.1498494_1498505del, NC_000019.9:g.1498495_1498505del, NC_000019.9:g.1498496_1498505del, NC_000019.9:g.1498497_1498505del, NC_000019.9:g.1498498_1498505del, NC_000019.9:g.1498499_1498505del, NC_000019.9:g.1498500_1498505del, NC_000019.9:g.1498501_1498505del, NC_000019.9:g.1498502_1498505del, NC_000019.9:g.1498503_1498505del, NC_000019.9:g.1498504_1498505del, NC_000019.9:g.1498505del, NC_000019.9:g.1498505dup, NC_000019.9:g.1498504_1498505dup, NC_000019.9:g.1498503_1498505dup, NC_000019.9:g.1498502_1498505dup, NC_000019.9:g.1498501_1498505dup, NC_000019.9:g.1498500_1498505dup, NG_055254.1:g.12489_12502del, NG_055254.1:g.12490_12502del, NG_055254.1:g.12491_12502del, NG_055254.1:g.12492_12502del, NG_055254.1:g.12493_12502del, NG_055254.1:g.12494_12502del, NG_055254.1:g.12495_12502del, NG_055254.1:g.12496_12502del, NG_055254.1:g.12497_12502del, NG_055254.1:g.12498_12502del, NG_055254.1:g.12499_12502del, NG_055254.1:g.12500_12502del, NG_055254.1:g.12501_12502del, NG_055254.1:g.12502del, NG_055254.1:g.12502dup, NG_055254.1:g.12501_12502dup, NG_055254.1:g.12500_12502dup, NG_055254.1:g.12499_12502dup, NG_055254.1:g.12498_12502dup, NG_055254.1:g.12497_12502dup
12.
rs1489380126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:1487365
(GRCh38)
19:1487364
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1487364:A:C,NC_000019.10:1487364:A:G
- Gene:
- PCSK4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000015/2
(GnomAD)
C=0.000354/6
(TOMMO)
C=0.0011/2
(Korea1K)
A=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1489348808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:1498200
(GRCh38)
19:1498199
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1498199:C:T
- Gene:
- REEP6 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000036/5
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS:
14.
rs1489269056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 19:1499533
(GRCh38)
19:1499532
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1499532:G:A,NC_000019.10:1499532:G:C,NC_000019.10:1499532:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
A=0.000035/1
(TOMMO)
C=0.000079/21
(TOPMED)
- HGVS:
15.
rs1489052511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:1492789
(GRCh38)
19:1492788
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1492788:C:G
- Gene:
- PCSK4 (Varview), REEP6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488461430 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 19:1487461
(GRCh38)
19:1487460
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1487460:CCCCCC:CCCCC,NC_000019.10:1487460:CCCCCC:CCCCCCC
- Gene:
- PCSK4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCC=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
- HGVS:
18.
rs1488431311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:1499120
(GRCh38)
19:1499119
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1499119:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488359049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:1487881
(GRCh38)
19:1487880
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1487880:T:C
- Gene:
- PCSK4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1488236066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 19:1495514
(GRCh38)
19:1495513
(GRCh37)
- Canonical SPDI:
- NC_000019.10:1495513:G:A,NC_000019.10:1495513:G:C,NC_000019.10:1495513:G:T
- Gene:
- REEP6 (Varview)
- Functional Consequence:
- stop_gained,missense_variant,coding_sequence_variant
- Clinical significance:
- uncertain-significance,pathogenic
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000019.10:g.1495514G>A, NC_000019.10:g.1495514G>C, NC_000019.10:g.1495514G>T, NC_000019.9:g.1495513G>A, NC_000019.9:g.1495513G>C, NC_000019.9:g.1495513G>T, NG_055254.1:g.9510G>A, NG_055254.1:g.9510G>C, NG_055254.1:g.9510G>T, NM_138393.4:c.255G>A, NM_138393.4:c.255G>C, NM_138393.4:c.255G>T, NM_138393.3:c.255G>A, NM_138393.3:c.255G>C, NM_138393.3:c.255G>T, NM_138393.2:c.255G>A, NM_138393.2:c.255G>C, NM_138393.2:c.255G>T, NM_138393.1:c.255G>A, NM_138393.1:c.255G>C, NM_138393.1:c.255G>T, NM_001329556.3:c.255G>A, NM_001329556.3:c.255G>C, NM_001329556.3:c.255G>T, NM_001329556.2:c.255G>A, NM_001329556.2:c.255G>C, NM_001329556.2:c.255G>T, NM_001329556.1:c.255G>A, NM_001329556.1:c.255G>C, NM_001329556.1:c.255G>T, NP_612402.1:p.Trp85Ter, NP_612402.1:p.Trp85Cys, NP_612402.1:p.Trp85Cys, NP_001316485.1:p.Trp85Ter, NP_001316485.1:p.Trp85Cys, NP_001316485.1:p.Trp85Cys