Links from Gene
Items: 1 to 20 of 6930
2.
rs1491388529 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:68154451
(GRCh38)
2:68381583
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68154450:TT:
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1491377063 has merged into rs10606309 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:68156110
(GRCh38)
2:68383242
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:68156101:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PNO1 (Varview), DNAAF10 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.68156110_68156125del, NC_000002.12:g.68156114_68156125del, NC_000002.12:g.68156115_68156125del, NC_000002.12:g.68156116_68156125del, NC_000002.12:g.68156117_68156125del, NC_000002.12:g.68156118_68156125del, NC_000002.12:g.68156119_68156125del, NC_000002.12:g.68156121_68156125del, NC_000002.12:g.68156122_68156125del, NC_000002.12:g.68156123_68156125del, NC_000002.12:g.68156124_68156125del, NC_000002.12:g.68156125del, NC_000002.12:g.68156125dup, NC_000002.12:g.68156124_68156125dup, NC_000002.12:g.68156123_68156125dup, NC_000002.12:g.68156122_68156125dup, NC_000002.12:g.68156121_68156125dup, NC_000002.12:g.68156120_68156125dup, NC_000002.12:g.68156119_68156125dup, NC_000002.12:g.68156118_68156125dup, NC_000002.12:g.68156125_68156126insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.68383242_68383257del, NC_000002.11:g.68383246_68383257del, NC_000002.11:g.68383247_68383257del, NC_000002.11:g.68383248_68383257del, NC_000002.11:g.68383249_68383257del, NC_000002.11:g.68383250_68383257del, NC_000002.11:g.68383251_68383257del, NC_000002.11:g.68383253_68383257del, NC_000002.11:g.68383254_68383257del, NC_000002.11:g.68383255_68383257del, NC_000002.11:g.68383256_68383257del, NC_000002.11:g.68383257del, NC_000002.11:g.68383257dup, NC_000002.11:g.68383256_68383257dup, NC_000002.11:g.68383255_68383257dup, NC_000002.11:g.68383254_68383257dup, NC_000002.11:g.68383253_68383257dup, NC_000002.11:g.68383252_68383257dup, NC_000002.11:g.68383251_68383257dup, NC_000002.11:g.68383250_68383257dup, NC_000002.11:g.68383257_68383258insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491275995 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAGCCA
[Show Flanks]
- Chromosome:
- 2:68154451
(GRCh38)
2:68381584
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68154451:TAGCCA:TAGCCATAGCCA
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAGCCATAGCCA=0./0
(
ALFA)
TAGCCA=0.000004/1
(TOPMED)
TAGCCA=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490946239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:68152205
(GRCh38)
2:68379337
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68152204:G:T
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000214/3
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
7.
rs1490943009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:68147095
(GRCh38)
2:68374227
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68147094:A:G
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490931176 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 2:68153356
(GRCh38)
2:68380489
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68153356::G
- Gene:
- DNAAF10 (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:
9.
rs1490906150 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:68149811
(GRCh38)
2:68376943
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68149810:CC:C
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
10.
rs1490826664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:68143805
(GRCh38)
2:68370937
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68143804:G:A,NC_000002.12:68143804:G:T
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490664838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:68130957
(GRCh38)
2:68358089
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68130956:C:T
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000142/2
(
ALFA)
T=0.000112/15
(GnomAD)
- HGVS:
12.
rs1490555447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTAA>-
[Show Flanks]
- Chromosome:
- 2:68136824
(GRCh38)
2:68363956
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68136816:TAAGTAAGTAA:TAAGTAA
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TAAGTAA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
- HGVS:
13.
rs1490491292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68154396
(GRCh38)
2:68381528
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68154395:G:A
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
14.
rs1490455179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68152729
(GRCh38)
2:68379861
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68152728:G:A
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490448538 has merged into rs757832176 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 2:68137889
(GRCh38)
2:68365021
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:68137878:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.075/3
(GENOME_DK)
- HGVS:
NC_000002.12:g.68137889_68137892del, NC_000002.12:g.68137891_68137892del, NC_000002.12:g.68137892del, NC_000002.12:g.68137892dup, NC_000002.12:g.68137891_68137892dup, NC_000002.12:g.68137890_68137892dup, NC_000002.11:g.68365021_68365024del, NC_000002.11:g.68365023_68365024del, NC_000002.11:g.68365024del, NC_000002.11:g.68365024dup, NC_000002.11:g.68365023_68365024dup, NC_000002.11:g.68365022_68365024dup
16.
rs1490440404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 2:68153742
(GRCh38)
2:68380874
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68153741:G:A,NC_000002.12:68153741:G:C,NC_000002.12:68153741:G:T
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
T=0.001523/43
(TOMMO)
- HGVS:
18.
rs1490127064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68151675
(GRCh38)
2:68378807
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68151674:G:A
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490120460 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTGGA>-
[Show Flanks]
- Chromosome:
- 2:68148231
(GRCh38)
2:68375363
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68148230:TTGGA:
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
20.
rs1490084489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:68150787
(GRCh38)
2:68377919
(GRCh37)
- Canonical SPDI:
- NC_000002.12:68150786:G:A
- Gene:
- DNAAF10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS: