Links from Gene
Items: 1 to 20 of 6106
1.
rs1491434094 has merged into rs34111911 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:96778540
(GRCh38)
9:99540822
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:96778527:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000009.12:g.96778540_96778544del, NC_000009.12:g.96778541_96778544del, NC_000009.12:g.96778542_96778544del, NC_000009.12:g.96778543_96778544del, NC_000009.12:g.96778544del, NC_000009.12:g.96778544dup, NC_000009.12:g.96778543_96778544dup, NC_000009.12:g.96778542_96778544dup, NC_000009.12:g.96778541_96778544dup, NC_000009.12:g.96778540_96778544dup, NC_000009.12:g.96778538_96778544dup, NC_000009.12:g.96778537_96778544dup, NC_000009.12:g.96778535_96778544dup, NC_000009.11:g.99540822_99540826del, NC_000009.11:g.99540823_99540826del, NC_000009.11:g.99540824_99540826del, NC_000009.11:g.99540825_99540826del, NC_000009.11:g.99540826del, NC_000009.11:g.99540826dup, NC_000009.11:g.99540825_99540826dup, NC_000009.11:g.99540824_99540826dup, NC_000009.11:g.99540823_99540826dup, NC_000009.11:g.99540822_99540826dup, NC_000009.11:g.99540820_99540826dup, NC_000009.11:g.99540819_99540826dup, NC_000009.11:g.99540817_99540826dup
2.
rs1491425036 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:96778528
(GRCh38)
9:99540811
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96778528::G
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00093/11
(
ALFA)
G=0.00252/39
(TOMMO)
G=0.00552/472
(GnomAD)
- HGVS:
3.
rs1491249123 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,T,TAT
[Show Flanks]
- Chromosome:
- 9:96770612
(GRCh38)
9:99532895
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96770612::C,NC_000009.12:96770612::T,NC_000009.12:96770612::TAT
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0.00013/2
(
ALFA)
T=0.00011/2
(TOMMO)
T=0.00667/4
(NorthernSweden)
- HGVS:
4.
rs1491226487 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 9:96771433
(GRCh38)
9:99533716
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96771433::C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490880749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96763491
(GRCh38)
9:99525773
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96763490:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000043/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
C=0.000013/3
(GnomAD_exomes)
- HGVS:
6.
rs1490802064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96771510
(GRCh38)
9:99533792
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96771509:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490713804 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATT
[Show Flanks]
- Chromosome:
- 9:96766338
(GRCh38)
9:99528621
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96766338:TATT:TATTATT
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATTATT=0.001096/13
(
ALFA)
TAT=0.001326/165
(GnomAD)
- HGVS:
8.
rs1490700039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96772681
(GRCh38)
9:99534963
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96772680:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1490663154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:96764575
(GRCh38)
9:99526857
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96764574:A:T
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490630216 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:96756827
(GRCh38)
9:99519109
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96756826:G:A
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
NC_000009.12:g.96756827G>A, NC_000009.11:g.99519109G>A, NM_014930.3:c.*1951C>T, NM_014930.2:c.*1951C>T, NM_014930.1:c.*1951C>T, XM_005251808.3:c.*1951C>T, XM_005251808.2:c.*1951C>T, XM_011518393.3:c.*1951C>T, XM_011518393.2:c.*1951C>T, XM_011518393.1:c.*1951C>T, NM_001314059.2:c.*1951C>T, NM_001314059.1:c.*1951C>T, XM_017014483.2:c.*1951C>T, XM_017014483.1:c.*1951C>T, NM_001314060.2:c.*1951C>T, NM_001314060.1:c.*1951C>T, XM_047423005.1:c.*1951C>T
11.
rs1490460640 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 9:96765446
(GRCh38)
9:99527728
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96765445:G:A,NC_000009.12:96765445:G:C,NC_000009.12:96765445:G:T
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
A=0.000283/5
(TOMMO)
- HGVS:
12.
rs1490446339 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96779775
(GRCh38)
9:99542057
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96779774:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
13.
rs1490336453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96766285
(GRCh38)
9:99528567
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96766284:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
14.
rs1490283285 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:96780253
(GRCh38)
9:99542535
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96780252:CC:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
15.
rs1489895819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:96767144
(GRCh38)
9:99529426
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96767143:A:G
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
16.
rs1489860950 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:96765430
(GRCh38)
9:99527713
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96765430:T:TT
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489844572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:96765311
(GRCh38)
9:99527593
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96765310:A:G
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1489835529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96772580
(GRCh38)
9:99534862
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96772579:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489812594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:96757255
(GRCh38)
9:99519537
(GRCh37)
- Canonical SPDI:
- NC_000009.12:96757254:T:C
- Gene:
- ZNF510 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.96757255T>C, NC_000009.11:g.99519537T>C, NM_014930.3:c.*1523A>G, NM_014930.2:c.*1523A>G, NM_014930.1:c.*1523A>G, XM_005251808.3:c.*1523A>G, XM_005251808.2:c.*1523A>G, XM_011518393.3:c.*1523A>G, XM_011518393.2:c.*1523A>G, XM_011518393.1:c.*1523A>G, NM_001314059.2:c.*1523A>G, NM_001314059.1:c.*1523A>G, XM_017014483.2:c.*1523A>G, XM_017014483.1:c.*1523A>G, NM_001314060.2:c.*1523A>G, NM_001314060.1:c.*1523A>G, XM_047423005.1:c.*1523A>G