Links from Gene
Items: 1 to 20 of 1000
1.
rs1491562420 has merged into rs143449455 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 13:46179980
(GRCh38)
13:46754115
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46179970:TCTCTCTCTCTCTCTCT:TCTCTCTCT,NC_000013.11:46179970:TCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000013.11:46179970:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000013.11:46179970:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000013.11:46179970:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000013.11:46179970:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCT=0./0
(
ALFA)
TC=0.05292/265
(1000Genomes)
TC=0.1028/22
(Vietnamese)
- HGVS:
NC_000013.11:g.46179972CT[4], NC_000013.11:g.46179972CT[5], NC_000013.11:g.46179972CT[6], NC_000013.11:g.46179972CT[7], NC_000013.11:g.46179972CT[9], NC_000013.11:g.46179972CT[10], NC_000013.10:g.46754107CT[4], NC_000013.10:g.46754107CT[5], NC_000013.10:g.46754107CT[6], NC_000013.10:g.46754107CT[7], NC_000013.10:g.46754107CT[9], NC_000013.10:g.46754107CT[10], XM_005266374.3:c.-11548GA[4], XM_005266374.3:c.-11548GA[5], XM_005266374.3:c.-11548GA[6], XM_005266374.3:c.-11548GA[7], XM_005266374.3:c.-11548GA[9], XM_005266374.3:c.-11548GA[10]
2.
rs1491463812 has merged into rs554047551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:46135135
(GRCh38)
13:46709270
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.46135135_46135136del, NC_000013.11:g.46135136del, NC_000013.11:g.46135136dup, NC_000013.11:g.46135135_46135136dup, NC_000013.11:g.46135136_46135137insAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.46135136_46135137insAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.46135136_46135137insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46709270_46709271del, NC_000013.10:g.46709271del, NC_000013.10:g.46709271dup, NC_000013.10:g.46709270_46709271dup, NC_000013.10:g.46709271_46709272insAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46709271_46709272insAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46709271_46709272insAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491435167 has merged into rs554047551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 13:46135135
(GRCh38)
13:46709270
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000013.11:46135124:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000013.11:g.46135135_46135136del, NC_000013.11:g.46135136del, NC_000013.11:g.46135136dup, NC_000013.11:g.46135135_46135136dup, NC_000013.11:g.46135136_46135137insAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.46135136_46135137insAAAAAAAAAAAAAAAAAAAAA, NC_000013.11:g.46135136_46135137insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46709270_46709271del, NC_000013.10:g.46709271del, NC_000013.10:g.46709271dup, NC_000013.10:g.46709270_46709271dup, NC_000013.10:g.46709271_46709272insAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46709271_46709272insAAAAAAAAAAAAAAAAAAAAA, NC_000013.10:g.46709271_46709272insAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491412095 has merged into rs138830625 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA,TATATATA,TATATATATA
[Show Flanks]
- Chromosome:
- 13:46157265
(GRCh38)
13:46731400
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46157257:ATATATATATA:ATATATA,NC_000013.11:46157257:ATATATATATA:ATATATATA,NC_000013.11:46157257:ATATATATATA:ATATATATATATA,NC_000013.11:46157257:ATATATATATA:ATATATATATATATA,NC_000013.11:46157257:ATATATATATA:ATATATATATATATATA
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATA=0./0
(
ALFA)
AT=0.12143/544
(Estonian)
AT=0.14333/86
(NorthernSweden)
AT=0.17335/173
(GoNL)
AT=0.175/7
(GENOME_DK)
AT=0.17891/896
(1000Genomes)
AT=0.32075/68
(Vietnamese)
AT=0.34225/627
(Korea1K)
- HGVS:
5.
rs1491332297 has merged into rs71074757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:46135757
(GRCh38)
13:46709892
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46135743:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4131/1592
(ALSPAC)
- HGVS:
NC_000013.11:g.46135757_46135763del, NC_000013.11:g.46135760_46135763del, NC_000013.11:g.46135761_46135763del, NC_000013.11:g.46135762_46135763del, NC_000013.11:g.46135763del, NC_000013.11:g.46135763dup, NC_000013.11:g.46135762_46135763dup, NC_000013.11:g.46135761_46135763dup, NC_000013.11:g.46135760_46135763dup, NC_000013.11:g.46135759_46135763dup, NC_000013.11:g.46135757_46135763dup, NC_000013.11:g.46135754_46135763dup, NC_000013.11:g.46135747_46135763dup, NC_000013.10:g.46709892_46709898del, NC_000013.10:g.46709895_46709898del, NC_000013.10:g.46709896_46709898del, NC_000013.10:g.46709897_46709898del, NC_000013.10:g.46709898del, NC_000013.10:g.46709898dup, NC_000013.10:g.46709897_46709898dup, NC_000013.10:g.46709896_46709898dup, NC_000013.10:g.46709895_46709898dup, NC_000013.10:g.46709894_46709898dup, NC_000013.10:g.46709892_46709898dup, NC_000013.10:g.46709889_46709898dup, NC_000013.10:g.46709882_46709898dup
7.
rs1491179460 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AG,CG
[Show Flanks]
- Chromosome:
- 13:46176900
(GRCh38)
13:46751036
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46176900:G:GAG,NC_000013.11:46176900:G:GCG
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCG=0./0
(
ALFA)
GA=0.00004/1
(TOMMO)
GC=0.00337/2
(NorthernSweden)
- HGVS:
8.
rs1491137670 has merged into rs1205897294 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAG>-,AGAG,AGAGAG,AGAGAGAGAG
[Show Flanks]
- Chromosome:
- 13:46176916
(GRCh38)
13:46751051
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46176910:GAGAGAGAGAGAG:GAGAG,NC_000013.11:46176910:GAGAGAGAGAGAG:GAGAGAGAG,NC_000013.11:46176910:GAGAGAGAGAGAG:GAGAGAGAGAG,NC_000013.11:46176910:GAGAGAGAGAGAG:GAGAGAGAGAGAGAG
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAG=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
GA=0.000446/2
(Estonian)
GA=0.003279/21
(1000Genomes)
-=0.020766/77
(TWINSUK)
-=0.023093/89
(ALSPAC)
- HGVS:
NC_000013.11:g.46176912AG[2], NC_000013.11:g.46176912AG[4], NC_000013.11:g.46176912AG[5], NC_000013.11:g.46176912AG[7], NC_000013.10:g.46751047AG[2], NC_000013.10:g.46751047AG[4], NC_000013.10:g.46751047AG[5], NC_000013.10:g.46751047AG[7], XM_005266374.3:c.-8484TC[2], XM_005266374.3:c.-8484TC[4], XM_005266374.3:c.-8484TC[5], XM_005266374.3:c.-8484TC[7]
10.
rs1491070944 has merged into rs143380629 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 13:46174311
(GRCh38)
13:46748446
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46174304:TTTTTTTT:TTTTTT,NC_000013.11:46174304:TTTTTTTT:TTTTTTTTT,NC_000013.11:46174304:TTTTTTTT:TTTTTTTTTT
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.12031/539
(Estonian)
T=0.14167/85
(NorthernSweden)
T=0.15/6
(GENOME_DK)
T=0.15453/573
(TWINSUK)
T=0.15802/609
(ALSPAC)
T=0.19708/987
(1000Genomes)
T=0.27784/509
(Korea1K)
T=0.28538/4783
(TOMMO)
- HGVS:
11.
rs1491033762 has merged into rs763693784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A
[Show Flanks]
- Chromosome:
- 13:46174315
(GRCh38)
13:46748450
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46174312:AAAA:AA,NC_000013.11:46174312:AAAA:AAA
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAA=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
12.
rs1491015385 has merged into rs35821183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:46182382
(GRCh38)
13:46756517
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:46182370:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1593/798
(1000Genomes)
- HGVS:
NC_000013.11:g.46182382_46182388del, NC_000013.11:g.46182385_46182388del, NC_000013.11:g.46182386_46182388del, NC_000013.11:g.46182387_46182388del, NC_000013.11:g.46182388del, NC_000013.11:g.46182388dup, NC_000013.11:g.46182387_46182388dup, NC_000013.11:g.46182386_46182388dup, NC_000013.11:g.46182385_46182388dup, NC_000013.10:g.46756517_46756523del, NC_000013.10:g.46756520_46756523del, NC_000013.10:g.46756521_46756523del, NC_000013.10:g.46756522_46756523del, NC_000013.10:g.46756523del, NC_000013.10:g.46756523dup, NC_000013.10:g.46756522_46756523dup, NC_000013.10:g.46756521_46756523dup, NC_000013.10:g.46756520_46756523dup
13.
rs1490990576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:46151713
(GRCh38)
13:46725848
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46151712:T:G
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- 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:
14.
rs1490964343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:46153028
(GRCh38)
13:46727163
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46153027:T:C
- Gene:
- LCP1 (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:
15.
rs1490911738 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:46134706
(GRCh38)
13:46708841
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46134705:T:C
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000342/1
(KOREAN)
C=0.000546/1
(Korea1K)
T=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1490880185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:46126312
(GRCh38)
13:46700447
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46126311:G:C
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
17.
rs1490859304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:46135516
(GRCh38)
13:46709651
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46135515:T:C
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490722406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 13:46175992
(GRCh38)
13:46750127
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46175991:T:C
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490684575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 13:46161117
(GRCh38)
13:46735252
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46161116:G:C
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_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:
20.
rs1490557965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:46176411
(GRCh38)
13:46750546
(GRCh37)
- Canonical SPDI:
- NC_000013.11:46176410:C:A
- Gene:
- LCP1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: