Links from Gene
Items: 1 to 20 of 5759
1.
rs1491192567 has merged into rs70949570 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-,G,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 1:1312207
(GRCh38)
1:1247587
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000001.11:1312198:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
- Gene:
- INTS11 (Varview), MIR6727 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.1312207_1312208del, NC_000001.11:g.1312208del, NC_000001.11:g.1312208dup, NC_000001.11:g.1312207_1312208dup, NC_000001.11:g.1312206_1312208dup, NC_000001.11:g.1312205_1312208dup, NC_000001.11:g.1312204_1312208dup, NC_000001.11:g.1312203_1312208dup, NC_000001.11:g.1312202_1312208dup, NC_000001.11:g.1312201_1312208dup, NC_000001.11:g.1312200_1312208dup, NC_000001.11:g.1312199_1312208dup, NC_000001.11:g.1312208_1312209insGGGGGGGGGGG, NC_000001.11:g.1312208_1312209insGGGGGGGGGGGG, NC_000001.11:g.1312208_1312209insGGGGGGGGGGGGG, NC_000001.11:g.1312208_1312209insGGGGGGGGGGGGGGG, NC_000001.11:g.1312208_1312209insGGGGGGGGGGGGGGGGG, NC_000001.11:g.1312208_1312209insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.11:g.1312208_1312209insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.1247587_1247588del, NC_000001.10:g.1247588del, NC_000001.10:g.1247588dup, NC_000001.10:g.1247587_1247588dup, NC_000001.10:g.1247586_1247588dup, NC_000001.10:g.1247585_1247588dup, NC_000001.10:g.1247584_1247588dup, NC_000001.10:g.1247583_1247588dup, NC_000001.10:g.1247582_1247588dup, NC_000001.10:g.1247581_1247588dup, NC_000001.10:g.1247580_1247588dup, NC_000001.10:g.1247579_1247588dup, NC_000001.10:g.1247588_1247589insGGGGGGGGGGG, NC_000001.10:g.1247588_1247589insGGGGGGGGGGGG, NC_000001.10:g.1247588_1247589insGGGGGGGGGGGGG, NC_000001.10:g.1247588_1247589insGGGGGGGGGGGGGGG, NC_000001.10:g.1247588_1247589insGGGGGGGGGGGGGGGGG, NC_000001.10:g.1247588_1247589insGGGGGGGGGGGGGGGGGGGGGGGG, NC_000001.10:g.1247588_1247589insGGGGGGGGGGGGGGGGGGGGGGGGG
2.
rs1490864945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:1316490
(GRCh38)
1:1251870
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1316489:A:G
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
3.
rs1490853780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1311473
(GRCh38)
1:1246853
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1311472:G:A
- Gene:
- INTS11 (Varview), PUSL1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,downstream_transcript_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
NC_000001.11:g.1311473G>A, NC_000001.10:g.1246853G>A, NM_153339.3:c.*94G>A, NM_153339.2:c.*94G>A, NM_153339.1:c.*94G>A, NM_001346116.2:c.*94G>A, NM_001346116.1:c.*94G>A, XM_024453057.2:c.998G>A, XM_024453057.1:c.998G>A, NR_144369.2:n.995G>A, NR_144369.1:n.1012G>A, XP_024308825.1:p.Cys333Tyr
4.
rs1490663406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:1311741
(GRCh38)
1:1247121
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1311740:C:T
- Gene:
- INTS11 (Varview), PUSL1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.1311741C>T, NC_000001.10:g.1247121C>T, NM_017871.6:c.*118G>A, NM_017871.5:c.*118G>A, XM_011541650.3:c.*118G>A, XM_011541650.2:c.*118G>A, XM_011541650.1:c.*118G>A, NM_001256456.2:c.*118G>A, NM_001256456.1:c.*118G>A, XM_011541648.2:c.*118G>A, XM_011541648.1:c.*118G>A, XM_011541647.2:c.*118G>A, XM_011541647.1:c.*118G>A, NM_001256460.2:c.*118G>A, NM_001256460.1:c.*118G>A, NM_001256462.2:c.*118G>A, NM_001256462.1:c.*118G>A, NM_001256463.2:c.*118G>A, NM_001256463.1:c.*118G>A, NM_032179.1:c.*950G>A
5.
rs1490601826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:1320633
(GRCh38)
1:1256013
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1320632:C:T
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1490416498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1322063
(GRCh38)
1:1257443
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1322062:G:A
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_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:
7.
rs1490359739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1322703
(GRCh38)
1:1258083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1322702:G:A
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490330020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1321107
(GRCh38)
1:1256487
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1321106:G:A
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/2
(GnomAD_exomes)
- HGVS:
10.
rs1490127631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:1313221
(GRCh38)
1:1248601
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1313220:T:C,NC_000001.11:1313220:T:G
- Gene:
- INTS11 (Varview), MIR6727 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490050128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:1311682
(GRCh38)
1:1247062
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1311681:A:G
- Gene:
- INTS11 (Varview), PUSL1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
- HGVS:
NC_000001.11:g.1311682A>G, NC_000001.10:g.1247062A>G, NM_017871.6:c.*177T>C, NM_017871.5:c.*177T>C, XM_011541650.3:c.*177T>C, XM_011541650.2:c.*177T>C, XM_011541650.1:c.*177T>C, NM_001256456.2:c.*177T>C, NM_001256456.1:c.*177T>C, XM_011541648.2:c.*177T>C, XM_011541648.1:c.*177T>C, XM_011541647.2:c.*177T>C, XM_011541647.1:c.*177T>C, NM_001256460.2:c.*177T>C, NM_001256460.1:c.*177T>C, NM_001256462.2:c.*177T>C, NM_001256462.1:c.*177T>C, NM_001256463.2:c.*177T>C, NM_001256463.1:c.*177T>C, NM_032179.1:c.*1009T>C
12.
rs1489896104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1323283
(GRCh38)
1:1258663
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1323282:G:A
- Gene:
- INTS11 (Varview), CPTP (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.1323283G>A, NC_000001.10:g.1258663G>A, NM_001256456.2:c.-423C>T, NM_001256456.1:c.-423C>T, XM_011541648.2:c.-86C>T, XM_011541648.1:c.-86C>T, XM_011541647.2:c.33C>T, XM_011541647.1:c.33C>T, NM_001256460.2:c.-162C>T, NM_001256460.1:c.-162C>T, NM_001256462.2:c.33C>T, NM_001256462.1:c.33C>T
13.
rs1489850411 has merged into rs558231595 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,AAA,AAAAA
[Show Flanks]
- Chromosome:
- 1:1317414
(GRCh38)
1:1252794
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1317406:AAAAAAAAAAA:AAAAAAA,NC_000001.11:1317406:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:1317406:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.00902/9
(GoNL)
-=0.025/1
(GENOME_DK)
- HGVS:
14.
rs1489731435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:1325055
(GRCh38)
1:1260435
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1325054:C:T
- Gene:
- INTS11 (Varview), CPTP (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
15.
rs1489626449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:1311999
(GRCh38)
1:1247379
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1311998:G:A,NC_000001.11:1311998:G:C
- Gene:
- INTS11 (Varview), PUSL1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489568563 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1311260
(GRCh38)
1:1246640
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1311259:G:A
- Gene:
- INTS11 (Varview), PUSL1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
17.
rs1489248668 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:1323206
(GRCh38)
1:1258586
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1323205:G:A,NC_000001.11:1323205:G:C
- Gene:
- INTS11 (Varview), CPTP (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,2KB_upstream_variant,missense_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD_exomes)
A=0.000014/2
(GnomAD)
- HGVS:
NC_000001.11:g.1323206G>A, NC_000001.11:g.1323206G>C, NC_000001.10:g.1258586G>A, NC_000001.10:g.1258586G>C, NM_001256456.2:c.-346C>T, NM_001256456.2:c.-346C>G, NM_001256456.1:c.-346C>T, NM_001256456.1:c.-346C>G, XM_011541648.2:c.-9C>T, XM_011541648.2:c.-9C>G, XM_011541648.1:c.-9C>T, XM_011541648.1:c.-9C>G, XM_011541647.2:c.110C>T, XM_011541647.2:c.110C>G, XM_011541647.1:c.110C>T, XM_011541647.1:c.110C>G, NM_001256460.2:c.-85C>T, NM_001256460.2:c.-85C>G, NM_001256460.1:c.-85C>T, NM_001256460.1:c.-85C>G, NM_001256462.2:c.110C>T, NM_001256462.2:c.110C>G, NM_001256462.1:c.110C>T, NM_001256462.1:c.110C>G, XP_011539949.1:p.Thr37Met, XP_011539949.1:p.Thr37Arg, NP_001243391.1:p.Thr37Met, NP_001243391.1:p.Thr37Arg
18.
rs1489220661 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:1318632
(GRCh38)
1:1254012
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1318631:A:C,NC_000001.11:1318631:A:G
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
19.
rs1488959918 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:1322155
(GRCh38)
1:1257535
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1322154:C:A
- Gene:
- INTS11 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
20.
rs1488761161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:1312366
(GRCh38)
1:1247746
(GRCh37)
- Canonical SPDI:
- NC_000001.11:1312365:G:A
- Gene:
- INTS11 (Varview), MIR6727 (Varview)
- Functional Consequence:
- 500B_downstream_variant,synonymous_variant,downstream_transcript_variant,coding_sequence_variant
- HGVS:
NC_000001.11:g.1312366G>A, NC_000001.10:g.1247746G>A, NM_017871.6:c.1467C>T, NM_017871.5:c.1467C>T, XM_011541650.3:c.1095C>T, XM_011541650.2:c.1095C>T, XM_011541650.1:c.1095C>T, NM_001256456.2:c.1485C>T, NM_001256456.1:c.1485C>T, XM_011541648.2:c.1533C>T, XM_011541648.1:c.1533C>T, XM_011541647.2:c.1647C>T, XM_011541647.1:c.1647C>T, NM_001256460.2:c.1380C>T, NM_001256460.1:c.1380C>T, NM_001256462.2:c.1173C>T, NM_001256462.1:c.1173C>T, NM_001256463.2:c.1164C>T, NM_001256463.1:c.1164C>T, NM_032179.1:c.*565C>T