Links from Gene
Items: 1 to 20 of 1000
4.
rs1491168074 has merged into rs59993189 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:57279164
(GRCh38)
19:57790532
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57279152:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZNF460 (Varview), ZNF460-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.3323/1664
(1000Genomes)
- HGVS:
NC_000019.10:g.57279164_57279176del, NC_000019.10:g.57279167_57279176del, NC_000019.10:g.57279168_57279176del, NC_000019.10:g.57279169_57279176del, NC_000019.10:g.57279170_57279176del, NC_000019.10:g.57279171_57279176del, NC_000019.10:g.57279172_57279176del, NC_000019.10:g.57279173_57279176del, NC_000019.10:g.57279174_57279176del, NC_000019.10:g.57279175_57279176del, NC_000019.10:g.57279176del, NC_000019.10:g.57279176dup, NC_000019.10:g.57279175_57279176dup, NC_000019.10:g.57279174_57279176dup, NC_000019.10:g.57279173_57279176dup, NC_000019.10:g.57279172_57279176dup, NC_000019.10:g.57279171_57279176dup, NC_000019.10:g.57279170_57279176dup, NC_000019.10:g.57279168_57279176dup, NC_000019.10:g.57279176_57279177insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.57279176_57279177insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.57790532_57790544del, NC_000019.9:g.57790535_57790544del, NC_000019.9:g.57790536_57790544del, NC_000019.9:g.57790537_57790544del, NC_000019.9:g.57790538_57790544del, NC_000019.9:g.57790539_57790544del, NC_000019.9:g.57790540_57790544del, NC_000019.9:g.57790541_57790544del, NC_000019.9:g.57790542_57790544del, NC_000019.9:g.57790543_57790544del, NC_000019.9:g.57790544del, NC_000019.9:g.57790544dup, NC_000019.9:g.57790543_57790544dup, NC_000019.9:g.57790542_57790544dup, NC_000019.9:g.57790541_57790544dup, NC_000019.9:g.57790540_57790544dup, NC_000019.9:g.57790539_57790544dup, NC_000019.9:g.57790538_57790544dup, NC_000019.9:g.57790536_57790544dup, NC_000019.9:g.57790544_57790545insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.57790544_57790545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491155428 has merged into rs59796969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT
[Show Flanks]
- Chromosome:
- 19:57283157
(GRCh38)
19:57794525
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57283145:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.483/2419
(1000Genomes)
- HGVS:
NC_000019.10:g.57283157_57283160del, NC_000019.10:g.57283158_57283160del, NC_000019.10:g.57283159_57283160del, NC_000019.10:g.57283160del, NC_000019.10:g.57283160dup, NC_000019.10:g.57283159_57283160dup, NC_000019.9:g.57794525_57794528del, NC_000019.9:g.57794526_57794528del, NC_000019.9:g.57794527_57794528del, NC_000019.9:g.57794528del, NC_000019.9:g.57794528dup, NC_000019.9:g.57794527_57794528dup
6.
rs1490848209 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 19:57286889
(GRCh38)
19:57798257
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57286888:A:
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490434684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:57294865
(GRCh38)
19:57806233
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57294864:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490270868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57280829
(GRCh38)
19:57792197
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57280828:C:T
- Gene:
- ZNF460 (Varview), ZNF460-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489945794 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 19:57295405
(GRCh38)
19:57806773
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57295404:G:A,NC_000019.10:57295404:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.000106/2
(TOMMO)
- HGVS:
11.
rs1489935034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57296224
(GRCh38)
19:57807592
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57296223:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1489672701 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:57288383
(GRCh38)
19:57799751
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57288382:GGG:GG
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489613738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:57287256
(GRCh38)
19:57798624
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57287255:G:A
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000049/13
(TOPMED)
- HGVS:
14.
rs1489559691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:57281925
(GRCh38)
19:57793293
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57281924:T:G
- Gene:
- ZNF460 (Varview), ZNF460-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,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:
15.
rs1489499179 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA
[Show Flanks]
- Chromosome:
- 19:57283006
(GRCh38)
19:57794374
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57283000:AGAGAGAGA:AGAGA,NC_000019.10:57283000:AGAGAGAGA:AGAGAGA
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGA=0./0
(
ALFA)
-=0.000301/42
(GnomAD)
-=0.000672/11
(TOMMO)
-=0.006667/4
(NorthernSweden)
- HGVS:
17.
rs1489340636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:57291498
(GRCh38)
19:57802866
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57291497:G:A
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489252570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 19:57278861
(GRCh38)
19:57790229
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57278860:A:G,NC_000019.10:57278860:A:T
- Gene:
- ZNF460 (Varview), ZNF460-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
- HGVS:
19.
rs1489040586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57289498
(GRCh38)
19:57800866
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57289497:C:T
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489017245 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:57289355
(GRCh38)
19:57800723
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57289354:A:G
- Gene:
- ZNF460 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS: