Links from Nucleotide
Items: 1 to 20 of 4159
2.
rs1491021313 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 16:18803253
(GRCh38)
16:18814575
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18803251:TAT:T
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490966458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:18791570
(GRCh38)
16:18802892
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18791569:T:C
- Gene:
- RPS15A (Varview), ARL6IP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490898038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:18805801
(GRCh38)
16:18817123
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18805800:T:C
- Gene:
- SMG1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
NC_000016.10:g.18805801T>C, NC_000016.9:g.18817123T>C, NG_042860.1:g.878A>G, XM_005255183.5:c.*3768A>G, XM_005255183.4:c.*3768A>G, XM_005255183.3:c.*3768A>G, XM_005255183.2:c.*3768A>G, XM_005255183.1:c.*3768A>G, NM_015092.5:c.*3768A>G, NM_015092.4:c.*3768A>G, XM_005255184.5:c.*3768A>G, XM_005255184.4:c.*3768A>G, XM_005255184.3:c.*3768A>G, XM_005255184.2:c.*3768A>G, XM_005255184.1:c.*3768A>G, XM_005255182.4:c.*3768A>G, XM_005255182.3:c.*3768A>G, XM_005255182.2:c.*3768A>G, XM_005255182.1:c.*3768A>G, XM_011545769.4:c.*3768A>G, XM_011545769.3:c.*3768A>G, XM_011545769.2:c.*3768A>G, XM_011545769.1:c.*3768A>G, XM_017023066.3:c.*3768A>G, XM_017023066.2:c.*3768A>G, XM_017023066.1:c.*3768A>G, XM_024450199.2:c.*3768A>G, XM_024450199.1:c.*3768A>G, XM_017023067.2:c.*3768A>G, XM_017023067.1:c.*3768A>G, XM_011545770.2:c.*3768A>G, XM_011545770.1:c.*3768A>G, XM_047433792.1:c.*3768A>G, XM_047433793.1:c.*3768A>G, XM_047433796.1:c.*3768A>G, XM_047433794.1:c.*3768A>G, XM_047433795.1:c.*3768A>G
5.
rs1490740822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:18800987
(GRCh38)
16:18812309
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18800986:C:T
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490476626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:18792143
(GRCh38)
16:18803465
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18792142:T:C
- Gene:
- RPS15A (Varview), ARL6IP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490173005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:18790391
(GRCh38)
16:18801713
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18790390:T:C
- Gene:
- RPS15A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490147534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:18791109
(GRCh38)
16:18802431
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18791108:C:T
- Gene:
- RPS15A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490125268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:18789899
(GRCh38)
16:18801221
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18789898:G:A
- Gene:
- RPS15A (Varview)
- Functional Consequence:
- 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:
10.
rs1489921747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 16:18801762
(GRCh38)
16:18813084
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18801761:A:C,NC_000016.10:18801761:A:T
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489366334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:18793755
(GRCh38)
16:18805077
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18793754:G:A
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489297427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 16:18798015
(GRCh38)
16:18809337
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18798014:A:G
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
13.
rs1489264378 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:18798603
(GRCh38)
16:18809925
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18798602:T:C
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1489229774 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:18798334
(GRCh38)
16:18809656
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18798333:A:C
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1489035591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 16:18795774
(GRCh38)
16:18807096
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18795773:A:T
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488825196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 16:18790493
(GRCh38)
16:18801815
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18790492:C:A
- Gene:
- RPS15A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488559101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:18804197
(GRCh38)
16:18815519
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18804196:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1488305888 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 16:18799383
(GRCh38)
16:18810705
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18799382:TC:
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
19.
rs1488208538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:18793589
(GRCh38)
16:18804911
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18793588:G:A
- Gene:
- ARL6IP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
20.
rs1488178148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 16:18791144
(GRCh38)
16:18802466
(GRCh37)
- Canonical SPDI:
- NC_000016.10:18791143:A:C
- Gene:
- RPS15A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS: