Links from Nucleotide
Items: 1 to 20 of 7848
1.
rs1491202365 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 11:76188231
(GRCh38)
11:75899275
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76188230:GC:
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
2.
rs1491197985 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 11:76188231
(GRCh38)
11:75899276
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76188231:CCC:CCCC
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
C=0.000114/16
(GnomAD)
C=0.000121/32
(TOPMED)
- HGVS:
3.
rs1490906012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76186423
(GRCh38)
11:75897467
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76186422:C:T
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000011.10:g.76186423C>T, NC_000011.9:g.75897467C>T, NG_046931.1:g.32586G>A, NM_004626.3:c.*642G>A, NM_004626.2:c.*642G>A, XM_011545239.3:c.*642G>A, XM_011545239.2:c.*642G>A, XM_011545239.1:c.*642G>A, XM_011545240.3:c.*642G>A, XM_011545240.2:c.*642G>A, XM_011545240.1:c.*642G>A, XM_011545238.2:c.*642G>A, XM_011545238.1:c.*642G>A, XM_005274231.2:c.*642G>A, XM_005274231.1:c.*642G>A, XM_047427546.1:c.*642G>A, XM_047427547.1:c.*642G>A
4.
rs1490854704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:76185631
(GRCh38)
11:75896675
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76185630:T:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490814790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:76193180
(GRCh38)
11:75904224
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76193179:G:A
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
6.
rs1490639622 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:76215046
(GRCh38)
11:75926090
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76215045:G:A,NC_000011.10:76215045:G:T
- Gene:
- LINC02761 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490537092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:76214356
(GRCh38)
11:75925400
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76214355:G:A
- Gene:
- LINC02761 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1490414500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:76186075
(GRCh38)
11:75897119
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76186074:G:A
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
A=0.000849/14
(TOMMO)
- HGVS:
9.
rs1490381266 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:76199636
(GRCh38)
11:75910681
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76199636:T:TT
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490363869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:76185175
(GRCh38)
11:75896219
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76185174:A:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490313437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:76216069
(GRCh38)
11:75927113
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76216068:T:A
- Gene:
- LINC02761 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
12.
rs1490306401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:76202591
(GRCh38)
11:75913635
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76202590:C:G,NC_000011.10:76202590:C:T
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490300668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:76197636
(GRCh38)
11:75908680
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76197635:C:A
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489988587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76193535
(GRCh38)
11:75904579
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76193534:C:T
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1489968848 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:76217417
(GRCh38)
11:75928461
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76217416:TTTTT:TTTT
- Gene:
- LINC02761 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
16.
rs1489848691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76216642
(GRCh38)
11:75927686
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76216641:C:T
- Gene:
- LINC02761 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489764398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:76201063
(GRCh38)
11:75912107
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76201062:C:G
- Gene:
- WNT11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489687781 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:76210763
(GRCh38)
11:75921807
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76210762:G:A
- Gene:
- WNT11 (Varview), LINC02761 (Varview), LOC112268079 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS: