Links from Gene
Items: 1 to 20 of 6324
1.
rs1491577181 has merged into rs35094143 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 11:71798815
(GRCh38)
11:71509861
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:71798803:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.475/19
(GENOME_DK)
- HGVS:
NC_000011.10:g.71798815_71798819del, NC_000011.10:g.71798816_71798819del, NC_000011.10:g.71798817_71798819del, NC_000011.10:g.71798818_71798819del, NC_000011.10:g.71798819del, NC_000011.10:g.71798819dup, NC_000011.9:g.71509861_71509865del, NC_000011.9:g.71509862_71509865del, NC_000011.9:g.71509863_71509865del, NC_000011.9:g.71509864_71509865del, NC_000011.9:g.71509865del, NC_000011.9:g.71509865dup
2.
rs1491551591 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:71798885
(GRCh38)
11:71509931
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71798882:CTCT:CT
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCT=0.005759/94
(
ALFA)
-=0.007123/118
(TOMMO)
-=0.008063/878
(GnomAD)
-=0.008588/55
(1000Genomes)
-=0.016722/10
(NorthernSweden)
- HGVS:
3.
rs1491462771 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 11:71798883
(GRCh38)
11:71509930
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71798883:T:TGT,NC_000011.10:71798883:T:TGTGT,NC_000011.10:71798883:T:TGTGTGT,NC_000011.10:71798883:T:TGTGTGTGT,NC_000011.10:71798883:T:TGTGTGTGTGT,NC_000011.10:71798883:T:TGTGTGTGTGTGT
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.71798884_71798885insGT, NC_000011.10:g.71798884_71798885insGTGT, NC_000011.10:g.71798885GT[3], NC_000011.10:g.71798885GT[4], NC_000011.10:g.71798885GT[5], NC_000011.10:g.71798885GT[6], NC_000011.9:g.71509930_71509931insGT, NC_000011.9:g.71509930_71509931insGTGT, NC_000011.9:g.71509931GT[3], NC_000011.9:g.71509931GT[4], NC_000011.9:g.71509931GT[5], NC_000011.9:g.71509931GT[6]
4.
rs1491397659 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 11:71798804
(GRCh38)
11:71509851
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71798804::TC
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TC=0./0
(
ALFA)
TC=0.000004/1
(TOPMED)
TC=0.000035/1
(GnomAD)
- HGVS:
5.
rs1491279511 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAA
[Show Flanks]
- Chromosome:
- 11:71797326
(GRCh38)
11:71508373
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71797326:CAA:CAACAA
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CAACAA=0./0
(
ALFA)
CAA=0.000004/1
(TOPMED)
- HGVS:
6.
rs1491178443 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 11:71797326
(GRCh38)
11:71508372
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71797325:GC:
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00514/61
(
ALFA)
-=0.00096/51
(GnomAD)
- HGVS:
7.
rs1490836458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:71804359
(GRCh38)
11:71515405
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71804358:G:T
- Gene:
- ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490782560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:71795455
(GRCh38)
11:71506501
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71795454:G:C
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00011/3
(TOMMO)
- HGVS:
9.
rs1490662459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:71810961
(GRCh38)
11:71522007
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71810960:A:T
- Gene:
- ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/2
(GnomAD)
A=0.5/2
(SGDP_PRJ)
- HGVS:
10.
rs1490581600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:71799912
(GRCh38)
11:71510958
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71799911:A:G
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490501735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71805570
(GRCh38)
11:71516616
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71805569:C:T
- Gene:
- ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
13.
rs1490354443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71815718
(GRCh38)
11:71526764
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71815717:G:A
- Gene:
- ALG1L9P (Varview), ZNF705EP (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490319304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:71812318
(GRCh38)
11:71523364
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71812317:C:T
- Gene:
- ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
15.
rs1490306619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 11:71801116
(GRCh38)
11:71512162
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71801115:G:A,NC_000011.10:71801115:G:C,NC_000011.10:71801115:G:T
- Gene:
- ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.71801116G>A, NC_000011.10:g.71801116G>C, NC_000011.10:g.71801116G>T, NC_000011.9:g.71512162G>A, NC_000011.9:g.71512162G>C, NC_000011.9:g.71512162G>T, NM_018172.3:c.*1469G>A, NM_018172.3:c.*1469G>C, NM_018172.3:c.*1469G>T, NM_018172.2:c.*1469G>A, NM_018172.2:c.*1469G>C, NM_018172.2:c.*1469G>T, NM_152563.2:c.*1469G>A, NM_152563.2:c.*1469G>C, NM_152563.2:c.*1469G>T, NM_001099653.1:c.*1469G>A, NM_001099653.1:c.*1469G>C, NM_001099653.1:c.*1469G>T
16.
rs1490243971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:71795191
(GRCh38)
11:71506237
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71795190:G:T
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,splice_donor_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000045/12
(TOPMED)
- HGVS:
17.
rs1490044822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:71805369
(GRCh38)
11:71516415
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71805368:G:A
- Gene:
- ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490029705 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:71806282
(GRCh38)
11:71517328
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71806281:G:
- Gene:
- ALG1L9P (Varview), XNDC1N-ZNF705EP-ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1489747509 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTGT>-
[Show Flanks]
- Chromosome:
- 11:71798885
(GRCh38)
11:71509931
(GRCh37)
- Canonical SPDI:
- NC_000011.10:71798883:TCTGT:T
- Gene:
- FAM86C1P (Varview), ALG1L9P (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.01391/165
(
ALFA)
-=0.010607/175
(TOMMO)
-=0.015101/9
(NorthernSweden)
-=0.016548/1796
(GnomAD)
- HGVS: