Links from Gene
Items: 1 to 20 of 3003
1.
rs1491087561 has merged into rs55950364 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- 2:96856013
(GRCh38)
2:97521750
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96856011:AAA:A,NC_000002.12:96856011:AAA:AA
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0.10194/1629
(
ALFA)
-=0.051062/256
(1000Genomes)
-=0.095225/25205
(TOPMED)
-=0.16397/608
(TWINSUK)
-=0.168656/650
(ALSPAC)
-=0.185/111
(NorthernSweden)
-=0.209419/209
(GoNL)
-=0.275/11
(GENOME_DK)
- HGVS:
2.
rs1490566131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:96856157
(GRCh38)
2:97521894
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96856156:G:T
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490189037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:96859999
(GRCh38)
2:97525736
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96859998:A:C,NC_000002.12:96859998:A:G
- Gene:
- ANKRD39 (Varview), SEMA4C (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00012/1
(GnomAD)
C=0.00042/6
(TOMMO)
- HGVS:
NC_000002.12:g.96859999A>C, NC_000002.12:g.96859999A>G, NC_000002.11:g.97525736A>C, NC_000002.11:g.97525736A>G, NM_017789.5:c.*627T>G, NM_017789.5:c.*627T>C, NM_017789.4:c.*627T>G, NM_017789.4:c.*627T>C, XM_011511382.4:c.*627T>G, XM_011511382.4:c.*627T>C, XM_011511382.3:c.*627T>G, XM_011511382.3:c.*627T>C, XM_011511382.2:c.*627T>G, XM_011511382.2:c.*627T>C, XM_011511382.1:c.*627T>G, XM_011511382.1:c.*627T>C, XM_017004393.3:c.*627T>G, XM_017004393.3:c.*627T>C, XM_017004393.2:c.*627T>G, XM_017004393.2:c.*627T>C, XM_017004393.1:c.*627T>G, XM_017004393.1:c.*627T>C, XM_011511378.3:c.*627T>G, XM_011511378.3:c.*627T>C, XM_011511378.2:c.*627T>G, XM_011511378.2:c.*627T>C, XM_011511378.1:c.*627T>G, XM_011511378.1:c.*627T>C, XM_011511379.3:c.*627T>G, XM_011511379.3:c.*627T>C, XM_011511379.2:c.*627T>G, XM_011511379.2:c.*627T>C, XM_011511379.1:c.*627T>G, XM_011511379.1:c.*627T>C, XM_017004394.3:c.*627T>G, XM_017004394.3:c.*627T>C, XM_017004394.2:c.*627T>G, XM_017004394.2:c.*627T>C, XM_017004394.1:c.*627T>G, XM_017004394.1:c.*627T>C, XM_011511381.2:c.*627T>G, XM_011511381.2:c.*627T>C, XM_011511381.1:c.*627T>G, XM_011511381.1:c.*627T>C, XM_011511383.2:c.*627T>G, XM_011511383.2:c.*627T>C, XM_011511383.1:c.*627T>G, XM_011511383.1:c.*627T>C, XM_011511380.2:c.*627T>G, XM_011511380.2:c.*627T>C, XM_011511380.1:c.*627T>G, XM_011511380.1:c.*627T>C, XM_047444831.1:c.*627T>G, XM_047444831.1:c.*627T>C
4.
rs1489618043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:96854148
(GRCh38)
2:97519885
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96854147:T:C
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489516187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:96849329
(GRCh38)
2:97515066
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96849328:A:T
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
T=0.00004/1
(TOMMO)
A=0.5/6
(SGDP_PRJ)
- HGVS:
6.
rs1489411170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:96857037
(GRCh38)
2:97522774
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96857036:T:G
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489403294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:96856467
(GRCh38)
2:97522204
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96856466:T:A
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00096/27
(TOMMO)
- HGVS:
8.
rs1489393568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:96854282
(GRCh38)
2:97520019
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96854281:G:A
- Gene:
- ANKRD39 (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:
9.
rs1489291249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:96856196
(GRCh38)
2:97521933
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96856195:G:A,NC_000002.12:96856195:G:C
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000198/3
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.00067/3
(Estonian)
- HGVS:
10.
rs1488964503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:96857870
(GRCh38)
2:97523607
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96857869:G:T
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000142/2
(TOMMO)
T=0.000557/1
(Korea1K)
T=0.000685/2
(KOREAN)
- HGVS:
11.
rs1488932710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:96849535
(GRCh38)
2:97515272
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96849534:C:T
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000035/1
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1488913919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:96848383
(GRCh38)
2:97514120
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96848382:T:C
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000012/3
(GnomAD_exomes)
- HGVS:
13.
rs1487705183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:96854016
(GRCh38)
2:97519753
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96854015:A:G
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1487654688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:96855247
(GRCh38)
2:97520984
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96855246:C:T
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487627574 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 2:96854458
(GRCh38)
2:97520195
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96854457:AAA:AA
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000015/4
(TOPMED)
- HGVS:
16.
rs1487502521 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:96851340
(GRCh38)
2:97517077
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96851339:G:A
- Gene:
- ANKRD39 (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:
17.
rs1486974002 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:96858157
(GRCh38)
2:97523894
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96858156:T:
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS:
18.
rs1486923330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 2:96858904
(GRCh38)
2:97524641
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96858903:A:C,NC_000002.12:96858903:A:G
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1486492459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:96857978
(GRCh38)
2:97523715
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96857977:G:C
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
20.
rs1486140791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:96848734
(GRCh38)
2:97514471
(GRCh37)
- Canonical SPDI:
- NC_000002.12:96848733:T:C
- Gene:
- ANKRD39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: