Links from Nucleotide
Items: 1 to 20 of 126
2.
rs1477421355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:83191124
(GRCh38)
11:82902166
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83191123:A:G
- Gene:
- ANKRD42-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1474205011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:83191070
(GRCh38)
11:82902112
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83191069:G:A,NC_000011.10:83191069:G:T
- Gene:
- ANKRD42-DT (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)
A=0.000156/1
(1000Genomes)
- HGVS:
NC_000011.10:g.83191070G>A, NC_000011.10:g.83191070G>T, NC_000011.9:g.82902112G>A, NC_000011.9:g.82902112G>T, NM_018705.1:c.*1710C>T, NM_018705.1:c.*1710C>A, NR_149009.1:n.302C>T, NR_149009.1:n.302C>A, NR_149010.1:n.497C>T, NR_149010.1:n.497C>A, NR_149011.1:n.473C>T, NR_149011.1:n.473C>A, NR_149008.1:n.383C>T, NR_149008.1:n.383C>A
4.
rs1472597690 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:83192776
(GRCh38)
11:82903819
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83192776:T:TT
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
5.
rs1460573413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:83193482
(GRCh38)
11:82904524
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193481:G:T
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1459019371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:83193555
(GRCh38)
11:82904597
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193554:T:C
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
C=0.000035/1
(TOMMO)
C=0.000342/1
(KOREAN)
- HGVS:
7.
rs1455757376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 11:83193487
(GRCh38)
11:82904530
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193487:TT:TTTT
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTT=0./0
(
ALFA)
TT=0.000011/3
(TOPMED)
- HGVS:
8.
rs1453675186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:83193502
(GRCh38)
11:82904544
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193501:C:T
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1447223338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:83193648
(GRCh38)
11:82904690
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193647:A:G
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1440724441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:83193477
(GRCh38)
11:82904519
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193476:G:A
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1436777196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:83193587
(GRCh38)
11:82904629
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193586:A:C
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
12.
rs1433917711 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:83193591
(GRCh38)
11:82904633
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193590:A:G
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1425659738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:83190993
(GRCh38)
11:82902035
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83190992:T:C
- Gene:
- ANKRD42-DT (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
14.
rs1415614595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:83192783
(GRCh38)
11:82903825
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83192782:C:G
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1413512285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:83192750
(GRCh38)
11:82903792
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83192749:G:C
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1413354799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 11:83190984
(GRCh38)
11:82902026
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83190983:C:A,NC_000011.10:83190983:C:T
- Gene:
- ANKRD42-DT (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.83190984C>A, NC_000011.10:g.83190984C>T, NC_000011.9:g.82902026C>A, NC_000011.9:g.82902026C>T, NM_018705.1:c.*1796G>T, NM_018705.1:c.*1796G>A, NR_149010.1:n.583G>T, NR_149010.1:n.583G>A, NR_149011.1:n.559G>T, NR_149011.1:n.559G>A, NR_149008.1:n.469G>T, NR_149008.1:n.469G>A
17.
rs1410292853 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:83191098
(GRCh38)
11:82902140
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83191097:C:T
- Gene:
- ANKRD42-DT (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:
18.
rs1407463977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:83192804
(GRCh38)
11:82903846
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83192803:G:A
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000043/6
(GnomAD)
A=0.000057/15
(TOPMED)
- HGVS:
19.
rs1406115818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:83193533
(GRCh38)
11:82904575
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83193532:C:T
- Gene:
- ANKRD42 (Varview), ANKRD42-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
20.
rs1402278277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:83191104
(GRCh38)
11:82902146
(GRCh37)
- Canonical SPDI:
- NC_000011.10:83191103:T:C
- Gene:
- ANKRD42-DT (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: