Links from Gene
Items: 1 to 20 of 2107
2.
rs1491511781 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTTTTTTG,TTTTTTTTTTTG,TTTTTTTTTTTTG
[Show Flanks]
- Chromosome:
- 19:47869322
(GRCh38)
19:48372580
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47869322::TTTTTTTTG,NC_000019.10:47869322::TTTTTTTTTTTG,NC_000019.10:47869322::TTTTTTTTTTTTG
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by cluster
- HGVS:
NC_000019.10:g.47869322_47869323insTTTTTTTTG, NC_000019.10:g.47869322_47869323insTTTTTTTTTTTG, NC_000019.10:g.47869322_47869323insTTTTTTTTTTTTG, NC_000019.9:g.48372579_48372580insTTTTTTTTG, NC_000019.9:g.48372579_48372580insTTTTTTTTTTTG, NC_000019.9:g.48372579_48372580insTTTTTTTTTTTTG, NG_016745.1:g.22075_22076insCAAAAAAAA, NG_016745.1:g.22075_22076insCAAAAAAAAAAA, NG_016745.1:g.22075_22076insCAAAAAAAAAAAA, XR_936006.3:n.39_40insCAAAAAAAA, XR_936006.3:n.39_40insCAAAAAAAAAAA, XR_936006.3:n.39_40insCAAAAAAAAAAAA, XR_936006.2:n.39_40insCAAAAAAAA, XR_936006.2:n.39_40insCAAAAAAAAAAA, XR_936006.2:n.39_40insCAAAAAAAAAAAA, XR_936006.1:n.37_38insCAAAAAAAA, XR_936006.1:n.37_38insCAAAAAAAAAAA, XR_936006.1:n.37_38insCAAAAAAAAAAAA, XR_936005.3:n.39_40insCAAAAAAAA, XR_936005.3:n.39_40insCAAAAAAAAAAA, XR_936005.3:n.39_40insCAAAAAAAAAAAA, XR_936005.2:n.39_40insCAAAAAAAA, XR_936005.2:n.39_40insCAAAAAAAAAAA, XR_936005.2:n.39_40insCAAAAAAAAAAAA, XR_936005.1:n.37_38insCAAAAAAAA, XR_936005.1:n.37_38insCAAAAAAAAAAA, XR_936005.1:n.37_38insCAAAAAAAAAAAA
3.
rs1491475819 has merged into rs34213399 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:47864879
(GRCh38)
19:48368136
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:47864870:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.47864879_47864890del, NC_000019.10:g.47864881_47864890del, NC_000019.10:g.47864882_47864890del, NC_000019.10:g.47864883_47864890del, NC_000019.10:g.47864884_47864890del, NC_000019.10:g.47864885_47864890del, NC_000019.10:g.47864886_47864890del, NC_000019.10:g.47864887_47864890del, NC_000019.10:g.47864888_47864890del, NC_000019.10:g.47864889_47864890del, NC_000019.10:g.47864890del, NC_000019.10:g.47864890dup, NC_000019.10:g.47864889_47864890dup, NC_000019.10:g.47864888_47864890dup, NC_000019.10:g.47864887_47864890dup, NC_000019.10:g.47864886_47864890dup, NC_000019.10:g.47864885_47864890dup, NC_000019.10:g.47864884_47864890dup, NC_000019.10:g.47864883_47864890dup, NC_000019.10:g.47864882_47864890dup, NC_000019.10:g.47864881_47864890dup, NC_000019.9:g.48368136_48368147del, NC_000019.9:g.48368138_48368147del, NC_000019.9:g.48368139_48368147del, NC_000019.9:g.48368140_48368147del, NC_000019.9:g.48368141_48368147del, NC_000019.9:g.48368142_48368147del, NC_000019.9:g.48368143_48368147del, NC_000019.9:g.48368144_48368147del, NC_000019.9:g.48368145_48368147del, NC_000019.9:g.48368146_48368147del, NC_000019.9:g.48368147del, NC_000019.9:g.48368147dup, NC_000019.9:g.48368146_48368147dup, NC_000019.9:g.48368145_48368147dup, NC_000019.9:g.48368144_48368147dup, NC_000019.9:g.48368143_48368147dup, NC_000019.9:g.48368142_48368147dup, NC_000019.9:g.48368141_48368147dup, NC_000019.9:g.48368140_48368147dup, NC_000019.9:g.48368139_48368147dup, NC_000019.9:g.48368138_48368147dup
4.
rs1491419539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 19:47865058
(GRCh38)
19:48368316
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865058:G:GG
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.00002/2
(GnomAD)
- HGVS:
5.
rs1491378589 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 19:47865058
(GRCh38)
19:48368315
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865057:TG:
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00025/3
(
ALFA)
-=0.00037/35
(GnomAD)
- HGVS:
6.
rs1491157718 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 19:47864871
(GRCh38)
19:48368129
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47864871::A
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490564585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:47864234
(GRCh38)
19:48367491
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47864233:C:T
- Gene:
- LINC01595 (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:
8.
rs1490303369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:47865957
(GRCh38)
19:48369214
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865956:G:A,NC_000019.10:47865956:G:T
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489916214 has merged into rs1275304539 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 19:47871149
(GRCh38)
19:48374406
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47871148:TTTTTTTT:TTTTTTT,NC_000019.10:47871148:TTTTTTTT:TTTTTTTTT
- Gene:
- SULT2A1 (Varview), LINC01595 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000022/3
(GnomAD)
- HGVS:
10.
rs1489781290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:47870238
(GRCh38)
19:48373495
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47870237:C:G,NC_000019.10:47870237:C:T
- Gene:
- SULT2A1 (Varview), LINC01595 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
G=0.125/1
(KOREAN)
- HGVS:
11.
rs1489740331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:47866536
(GRCh38)
19:48369793
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47866535:C:A,NC_000019.10:47866535:C:T
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1489679206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:47868449
(GRCh38)
19:48371706
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47868448:G:T
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489359118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:47871193
(GRCh38)
19:48374450
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47871192:T:C
- Gene:
- SULT2A1 (Varview), LINC01595 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488077648 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 19:47865394
(GRCh38)
19:48368651
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865393:C:
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1487774539 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:47868206
(GRCh38)
19:48371463
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47868205:G:A
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00002/2
(GnomAD)
A=0.01507/44
(KOREAN)
- HGVS:
16.
rs1487455371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:47865249
(GRCh38)
19:48368506
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865248:G:A
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
17.
rs1487306197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:47865285
(GRCh38)
19:48368542
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865284:C:T
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1487235132 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACTACAGG>-
[Show Flanks]
- Chromosome:
- 19:47865950
(GRCh38)
19:48369207
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47865947:GGACTACAGG:GG
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
19.
rs1486326029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:47863026
(GRCh38)
19:48366283
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47863025:C:T
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1486116319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:47868173
(GRCh38)
19:48371430
(GRCh37)
- Canonical SPDI:
- NC_000019.10:47868172:G:A
- Gene:
- LINC01595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS: