Links from Gene
Items: 1 to 20 of 1000
2.
rs1491152957 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA,TAA
[Show Flanks]
- Chromosome:
- 3:169950811
(GRCh38)
3:169668600
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169950811::TA,NC_000003.12:169950811::TAA
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAA=0./0
(
ALFA)
TA=0.001007/112
(GnomAD)
- HGVS:
3.
rs1491047237 has merged into rs71176545 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:169951458
(GRCh38)
3:169669246
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:169951449:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
TTTTTTT=0./0
(GENOME_DK)
- HGVS:
NC_000003.12:g.169951458_169951474del, NC_000003.12:g.169951460_169951474del, NC_000003.12:g.169951461_169951474del, NC_000003.12:g.169951462_169951474del, NC_000003.12:g.169951463_169951474del, NC_000003.12:g.169951464_169951474del, NC_000003.12:g.169951465_169951474del, NC_000003.12:g.169951466_169951474del, NC_000003.12:g.169951467_169951474del, NC_000003.12:g.169951468_169951474del, NC_000003.12:g.169951469_169951474del, NC_000003.12:g.169951470_169951474del, NC_000003.12:g.169951471_169951474del, NC_000003.12:g.169951472_169951474del, NC_000003.12:g.169951473_169951474del, NC_000003.12:g.169951474del, NC_000003.12:g.169951474dup, NC_000003.12:g.169951473_169951474dup, NC_000003.12:g.169951472_169951474dup, NC_000003.12:g.169951471_169951474dup, NC_000003.12:g.169951470_169951474dup, NC_000003.12:g.169951469_169951474dup, NC_000003.12:g.169951468_169951474dup, NC_000003.12:g.169951467_169951474dup, NC_000003.12:g.169951466_169951474dup, NC_000003.12:g.169951465_169951474dup, NC_000003.12:g.169951464_169951474dup, NC_000003.12:g.169951463_169951474dup, NC_000003.12:g.169951462_169951474dup, NC_000003.12:g.169951461_169951474dup, NC_000003.12:g.169951460_169951474dup, NC_000003.12:g.169951459_169951474dup, NC_000003.12:g.169951457_169951474dup, NC_000003.12:g.169951455_169951474dup, NC_000003.12:g.169951453_169951474dup, NC_000003.12:g.169951452_169951474dup, NC_000003.12:g.169951474_169951475insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.169669246_169669262del, NC_000003.11:g.169669248_169669262del, NC_000003.11:g.169669249_169669262del, NC_000003.11:g.169669250_169669262del, NC_000003.11:g.169669251_169669262del, NC_000003.11:g.169669252_169669262del, NC_000003.11:g.169669253_169669262del, NC_000003.11:g.169669254_169669262del, NC_000003.11:g.169669255_169669262del, NC_000003.11:g.169669256_169669262del, NC_000003.11:g.169669257_169669262del, NC_000003.11:g.169669258_169669262del, NC_000003.11:g.169669259_169669262del, NC_000003.11:g.169669260_169669262del, NC_000003.11:g.169669261_169669262del, NC_000003.11:g.169669262del, NC_000003.11:g.169669262dup, NC_000003.11:g.169669261_169669262dup, NC_000003.11:g.169669260_169669262dup, NC_000003.11:g.169669259_169669262dup, NC_000003.11:g.169669258_169669262dup, NC_000003.11:g.169669257_169669262dup, NC_000003.11:g.169669256_169669262dup, NC_000003.11:g.169669255_169669262dup, NC_000003.11:g.169669254_169669262dup, NC_000003.11:g.169669253_169669262dup, NC_000003.11:g.169669252_169669262dup, NC_000003.11:g.169669251_169669262dup, NC_000003.11:g.169669250_169669262dup, NC_000003.11:g.169669249_169669262dup, NC_000003.11:g.169669248_169669262dup, NC_000003.11:g.169669247_169669262dup, NC_000003.11:g.169669245_169669262dup, NC_000003.11:g.169669243_169669262dup, NC_000003.11:g.169669241_169669262dup, NC_000003.11:g.169669240_169669262dup, NC_000003.11:g.169669262_169669263insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1490779662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:169966695
(GRCh38)
3:169684483
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169966694:C:G
- Gene:
- SEC62 (Varview), LOC100128164 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
5.
rs1490616578 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 3:169966942
(GRCh38)
3:169684730
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169966941:AAA:AA
- Gene:
- SEC62 (Varview), LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490482348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 3:169967341
(GRCh38)
3:169685129
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169967340:A:G,NC_000003.12:169967340:A:T
- Gene:
- SEC62 (Varview), LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490265500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:169966632
(GRCh38)
3:169684420
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169966631:C:T
- Gene:
- SEC62 (Varview), LOC100128164 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490261750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:169944812
(GRCh38)
3:169662600
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169944811:G:A
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490201938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:169949226
(GRCh38)
3:169667014
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169949225:G:C
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490176499 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TATC
[Show Flanks]
- Chromosome:
- 3:169958188
(GRCh38)
3:169675977
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169958188:TATC:TATCTATC
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATCTATC=0./0
(
ALFA)
TATC=0.000011/3
(TOPMED)
TATC=0.000014/2
(GnomAD)
- HGVS:
12.
rs1489096542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:169943814
(GRCh38)
3:169661602
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169943813:C:T
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1489062465 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 3:169967599
(GRCh38)
3:169685387
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169967598:CCCCC:CCCC
- Gene:
- SEC62 (Varview), LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489004209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:169950676
(GRCh38)
3:169668464
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169950675:G:T
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488776277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:169965276
(GRCh38)
3:169683064
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169965275:G:A
- Gene:
- SEC62 (Varview), LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000142/2
(
ALFA)
A=0.000037/5
(GnomAD)
- HGVS:
18.
rs1488676116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:169951105
(GRCh38)
3:169668893
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169951104:C:G
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488556197 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:169943743
(GRCh38)
3:169661531
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169943742:T:C
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1488402358 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:169964466
(GRCh38)
3:169682254
(GRCh37)
- Canonical SPDI:
- NC_000003.12:169964465:T:C
- Gene:
- LOC100128164 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
T=0.5/1
(SGDP_PRJ)
- HGVS: