Links from Gene
Items: 1 to 20 of 575
1.
rs1489237848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:109487268
(GRCh38)
4:110408424
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487267:A:T
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
2.
rs1488308528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109487256
(GRCh38)
4:110408412
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487255:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
3.
rs1487964198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:109486891
(GRCh38)
4:110408047
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109486890:G:A
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
4.
rs1486778593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109488662
(GRCh38)
4:110409818
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109488661:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
5.
rs1485614469 has merged into rs372133489 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:109487177
(GRCh38)
4:110408333
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:109487165:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.109487177_109487184del, NC_000004.12:g.109487178_109487184del, NC_000004.12:g.109487179_109487184del, NC_000004.12:g.109487180_109487184del, NC_000004.12:g.109487181_109487184del, NC_000004.12:g.109487182_109487184del, NC_000004.12:g.109487183_109487184del, NC_000004.12:g.109487184del, NC_000004.12:g.109487184dup, NC_000004.12:g.109487183_109487184dup, NC_000004.12:g.109487182_109487184dup, NC_000004.12:g.109487180_109487184dup, NC_000004.12:g.109487179_109487184dup, NC_000004.12:g.109487184_109487185insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.109487166_109487184A[44]CAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.110408333_110408340del, NC_000004.11:g.110408334_110408340del, NC_000004.11:g.110408335_110408340del, NC_000004.11:g.110408336_110408340del, NC_000004.11:g.110408337_110408340del, NC_000004.11:g.110408338_110408340del, NC_000004.11:g.110408339_110408340del, NC_000004.11:g.110408340del, NC_000004.11:g.110408340dup, NC_000004.11:g.110408339_110408340dup, NC_000004.11:g.110408338_110408340dup, NC_000004.11:g.110408336_110408340dup, NC_000004.11:g.110408335_110408340dup, NC_000004.11:g.110408340_110408341insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.110408322_110408340A[44]CAAAAAAAAAAAAAAAAAAAAA[1], NG_032166.1:g.58363_58370del, NG_032166.1:g.58364_58370del, NG_032166.1:g.58365_58370del, NG_032166.1:g.58366_58370del, NG_032166.1:g.58367_58370del, NG_032166.1:g.58368_58370del, NG_032166.1:g.58369_58370del, NG_032166.1:g.58370del, NG_032166.1:g.58370dup, NG_032166.1:g.58369_58370dup, NG_032166.1:g.58368_58370dup, NG_032166.1:g.58366_58370dup, NG_032166.1:g.58365_58370dup, NG_032166.1:g.58370_58371insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032166.1:g.58352_58370A[44]CAAAAAAAAAAAAAAAAAAAAA[1]
7.
rs1484456009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109486721
(GRCh38)
4:110407877
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109486720:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1481904354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109489111
(GRCh38)
4:110410267
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109489110:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000342/1
(KOREAN)
G=0.001557/26
(TOMMO)
- HGVS:
9.
rs1481870526 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCTTTT>-
[Show Flanks]
- Chromosome:
- 4:109489132
(GRCh38)
4:110410288
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109489125:TCTTTTTTCTTTT:TCTTTT
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTTTT=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
10.
rs1478788295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:109486888
(GRCh38)
4:110408044
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109486887:G:A
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1478583643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:109488779
(GRCh38)
4:110409935
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109488778:T:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
12.
rs1474242084 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109487757
(GRCh38)
4:110408913
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487756:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
14.
rs1473116798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:109487714
(GRCh38)
4:110408870
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487713:G:C
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000042/11
(TOPMED)
- HGVS:
15.
rs1472982326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 4:109486796
(GRCh38)
4:110407952
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109486795:A:C,NC_000004.12:109486795:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1472315985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:109488773
(GRCh38)
4:110409929
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109488772:C:T
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000041/1
(GnomAD_exomes)
- HGVS:
17.
rs1471353331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:109489272
(GRCh38)
4:110410428
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109489271:G:C
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1469402519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:109487626
(GRCh38)
4:110408782
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487625:A:G
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1469310106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:109488966
(GRCh38)
4:110410122
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109488965:T:A
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1467175704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:109487970
(GRCh38)
4:110409126
(GRCh37)
- Canonical SPDI:
- NC_000004.12:109487969:G:C
- Gene:
- SEC24B (Varview), MIR576 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS: