Links from Gene
Items: 1 to 20 of 1000
1.
rs1491223767 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:66104045
(GRCh38)
9:43084623
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66104044:CA:
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.03735/443
(
ALFA)
-=0.00419/42
(TOMMO)
- HGVS:
2.
rs1491221298 has merged into rs71255981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AA,AAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:66104055
(GRCh38)
9:43084633
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:66104045:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0853/92
(Korea1K)
- HGVS:
NC_000009.12:g.66104055_66104072del, NC_000009.12:g.66104057_66104072del, NC_000009.12:g.66104063_66104072del, NC_000009.12:g.66104070_66104072del, NC_000009.12:g.66104071_66104072del, NC_000009.12:g.66104072del, NC_000009.12:g.66104072dup, NC_000009.12:g.66104071_66104072dup, NC_000009.12:g.66104070_66104072dup, NC_000009.11:g.43084633_43084650del, NC_000009.11:g.43084635_43084650del, NC_000009.11:g.43084641_43084650del, NC_000009.11:g.43084648_43084650del, NC_000009.11:g.43084649_43084650del, NC_000009.11:g.43084650del, NC_000009.11:g.43084650dup, NC_000009.11:g.43084649_43084650dup, NC_000009.11:g.43084648_43084650dup
3.
rs1490989016 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:66128086
(GRCh38)
9:43108664
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66128085:G:
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000017/1
(GnomAD)
- HGVS:
4.
rs1490975038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:66154781
(GRCh38)
9:43135359
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66154780:G:A
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1490754436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:66155145
(GRCh38)
9:43135723
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66155144:T:C
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00008/8
(GnomAD)
- HGVS:
7.
rs1490545753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:66124824
(GRCh38)
9:43105402
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66124823:T:C
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00007/1
(
ALFA)
C=0.00004/1
(GnomAD)
C=0.00004/1
(TOMMO)
- HGVS:
NC_000009.12:g.66124824T>C, NC_000009.11:g.43105402T>C, XR_001746295.3:n.1382A>G, XR_001746295.2:n.2960A>G, XR_001746295.1:n.1387A>G, XR_001746296.3:n.1382A>G, XR_001746296.2:n.2960A>G, XR_001746296.1:n.1387A>G, NM_001012419.2:c.1052A>G, XR_007061554.1:n.1382A>G, XR_007061555.1:n.1378A>G, XR_007061553.1:n.1382A>G, XR_007061556.1:n.1385A>G
8.
rs1490526412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:66153515
(GRCh38)
9:43134093
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66153514:G:A
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000169/2
(
ALFA)
A=0.000044/6
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
9.
rs1490502489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:66128771
(GRCh38)
9:43109349
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66128770:C:G
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00002/2
(GnomAD)
- HGVS:
10.
rs1490486240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:66153054
(GRCh38)
9:43133632
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66153053:C:T
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.66153054C>T, NC_000009.11:g.43133632C>T, XR_001746295.3:n.131G>A, XR_001746295.2:n.1709G>A, XR_001746295.1:n.136G>A, XR_001746296.3:n.131G>A, XR_001746296.2:n.1709G>A, XR_001746296.1:n.136G>A, XR_007061554.1:n.131G>A, XR_007061555.1:n.130G>A, XR_007061553.1:n.131G>A, XR_007061556.1:n.134G>A
11.
rs1490446090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:66128034
(GRCh38)
9:43108612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66128033:G:T
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
12.
rs1490397431 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TT
[Show Flanks]
- Chromosome:
- 9:66120939
(GRCh38)
9:43101518
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66120939:TT:TTTT
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
TT=0.000009/1
(GnomAD)
- HGVS:
13.
rs1490216126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:66154347
(GRCh38)
9:43134925
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66154346:G:A
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00088/15
(TOMMO)
A=0.0024/7
(KOREAN)
A=0.00274/5
(Korea1K)
- HGVS:
15.
rs1490069968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 9:66127966
(GRCh38)
9:43108544
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66127965:T:C,NC_000009.12:66127965:T:G
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00012/12
(GnomAD)
- HGVS:
16.
rs1489957184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:66129862
(GRCh38)
9:43110440
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66129861:A:G
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00002/1
(GnomAD)
- HGVS:
17.
rs1489911667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:66147015
(GRCh38)
9:43127593
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66147014:A:G
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000106/3
(TOMMO)
- HGVS:
18.
rs1489907958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:66123289
(GRCh38)
9:43103867
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66123288:A:G,NC_000009.12:66123288:A:T
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00011/2
(TOMMO)
- HGVS:
19.
rs1489831703 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:66152707
(GRCh38)
9:43133285
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66152706:C:T
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.00003/4
(GnomAD)
T=0.000086/7
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.66152707C>T, NC_000009.11:g.43133285C>T, XR_001746295.3:n.478G>A, XR_001746295.2:n.2056G>A, XR_001746295.1:n.483G>A, XR_001746296.3:n.478G>A, XR_001746296.2:n.2056G>A, XR_001746296.1:n.483G>A, NM_001012419.2:c.148G>A, XR_007061554.1:n.478G>A, XR_007061555.1:n.477G>A, XR_007061553.1:n.478G>A, XR_007061556.1:n.481G>A
20.
rs1489702543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:66129622
(GRCh38)
9:43110200
(GRCh37)
- Canonical SPDI:
- NC_000009.12:66129621:A:G
- Gene:
- ANKRD20A3P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS: