Links from Gene
Items: 1 to 20 of 1174
1.
rs1491432194 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGCCTGTATCCTCCTCTCCCT
[Show Flanks]
- Chromosome:
- 20:31844077
(GRCh38)
20:30431881
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31844077:CTCTCCCTTGCCTGTATCCTCCTCTCCCT:CTCTCCCTTGCCTGTATCCTCCTCTCCCTTGCCTGTATCCTCCTCTCCCT
- Gene:
- FOXS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCCCTTGCCTGTATCCTCCTCTCCCTTGCCTGTATCCTCCTCTCCCT=0.000224/1
(
ALFA)
CTCTCCCTTGCCTGTATCCTC=0.000007/1
(GnomAD)
CTCTCCCTTGCCTGTATCCTC=0.000223/1
(Estonian)
- HGVS:
2.
rs1491411736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TAAGCA
[Show Flanks]
- Chromosome:
- 20:31846134
(GRCh38)
20:30433938
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846134:CA:CATAAGCA
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CATAAGCA=0./0
(
ALFA)
CATAAG=0.000004/1
(TOPMED)
- HGVS:
3.
rs1491165375 has merged into rs922590794 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACA>-,CA,CACA,CACACA,CACACACACA,CACACACACACACA
[Show Flanks]
- Chromosome:
- 20:31846137
(GRCh38)
20:30433940
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846133:ACACACACACA:ACA,NC_000020.11:31846133:ACACACACACA:ACACA,NC_000020.11:31846133:ACACACACACA:ACACACA,NC_000020.11:31846133:ACACACACACA:ACACACACA,NC_000020.11:31846133:ACACACACACA:ACACACACACACA,NC_000020.11:31846133:ACACACACACA:ACACACACACACACACA
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000020.11:g.31846135CA[1], NC_000020.11:g.31846135CA[2], NC_000020.11:g.31846135CA[3], NC_000020.11:g.31846135CA[4], NC_000020.11:g.31846135CA[6], NC_000020.11:g.31846135CA[8], NC_000020.10:g.30433938CA[1], NC_000020.10:g.30433938CA[2], NC_000020.10:g.30433938CA[3], NC_000020.10:g.30433938CA[4], NC_000020.10:g.30433938CA[6], NC_000020.10:g.30433938CA[8]
4.
rs1491102449 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 20:31844081
(GRCh38)
20:30431884
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31844076:TCTCTC:TCTC
- Gene:
- FOXS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTC=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490818596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:31846250
(GRCh38)
20:30434053
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846249:A:G
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
6.
rs1490031747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:31845258
(GRCh38)
20:30433061
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31845257:G:A
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,500B_downstream_variant,downstream_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.
rs1489791418 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:31843821
(GRCh38)
20:30431624
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31843820:G:A
- Gene:
- FOXS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489744008 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAAAA>-
[Show Flanks]
- Chromosome:
- 20:31845886
(GRCh38)
20:30433689
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31845879:ACAAAAACAAAA:ACAAAA
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACAAAAACAAAA=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
9.
rs1488576288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:31845707
(GRCh38)
20:30433510
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31845706:C:T
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488253673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 20:31847398
(GRCh38)
20:30435201
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31847397:A:C,NC_000020.11:31847397:A:G
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487675221 has merged into rs71185371 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAGAGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 20:31846457
(GRCh38)
20:30434260
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:31846442:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAG=0./0
(
ALFA)
AG=0.3325/1665
(1000Genomes)
- HGVS:
NC_000020.11:g.31846443AG[7], NC_000020.11:g.31846443AG[8], NC_000020.11:g.31846443AG[9], NC_000020.11:g.31846443AG[10], NC_000020.11:g.31846443AG[11], NC_000020.11:g.31846443AG[12], NC_000020.11:g.31846443AG[13], NC_000020.11:g.31846443AG[14], NC_000020.11:g.31846443AG[15], NC_000020.11:g.31846443AG[16], NC_000020.11:g.31846443AG[18], NC_000020.11:g.31846443AG[19], NC_000020.11:g.31846443AG[20], NC_000020.11:g.31846443AG[21], NC_000020.11:g.31846443AG[22], NC_000020.11:g.31846443AG[23], NC_000020.11:g.31846443AG[24], NC_000020.11:g.31846443AG[25], NC_000020.11:g.31846443AG[26], NC_000020.11:g.31846443AG[27], NC_000020.11:g.31846443AG[28], NC_000020.11:g.31846443AG[29], NC_000020.11:g.31846443AG[30], NC_000020.11:g.31846443AG[31], NC_000020.11:g.31846443AG[32], NC_000020.11:g.31846443AG[33], NC_000020.11:g.31846443AG[34], NC_000020.11:g.31846443AG[35], NC_000020.10:g.30434246AG[7], NC_000020.10:g.30434246AG[8], NC_000020.10:g.30434246AG[9], NC_000020.10:g.30434246AG[10], NC_000020.10:g.30434246AG[11], NC_000020.10:g.30434246AG[12], NC_000020.10:g.30434246AG[13], NC_000020.10:g.30434246AG[14], NC_000020.10:g.30434246AG[15], NC_000020.10:g.30434246AG[16], NC_000020.10:g.30434246AG[18], NC_000020.10:g.30434246AG[19], NC_000020.10:g.30434246AG[20], NC_000020.10:g.30434246AG[21], NC_000020.10:g.30434246AG[22], NC_000020.10:g.30434246AG[23], NC_000020.10:g.30434246AG[24], NC_000020.10:g.30434246AG[25], NC_000020.10:g.30434246AG[26], NC_000020.10:g.30434246AG[27], NC_000020.10:g.30434246AG[28], NC_000020.10:g.30434246AG[29], NC_000020.10:g.30434246AG[30], NC_000020.10:g.30434246AG[31], NC_000020.10:g.30434246AG[32], NC_000020.10:g.30434246AG[33], NC_000020.10:g.30434246AG[34], NC_000020.10:g.30434246AG[35]
13.
rs1487644021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 20:31847399
(GRCh38)
20:30435202
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31847398:G:C
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000045/12
(TOPMED)
- HGVS:
15.
rs1486837545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:31844922
(GRCh38)
20:30432725
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31844921:G:A
- Gene:
- FOXS1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000023/6
(TOPMED)
A=0.000029/4
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
16.
rs1483550162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:31847536
(GRCh38)
20:30435339
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31847535:C:T
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
17.
rs1483009638 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAGA>-
[Show Flanks]
- Chromosome:
- 20:31846442
(GRCh38)
20:30434245
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846440:ATAGA:A
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00076/9
(
ALFA)
-=0.00066/57
(GnomAD)
- HGVS:
18.
rs1482896821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:31847217
(GRCh38)
20:30435020
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31847216:A:G
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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:
19.
rs1482063056 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTACAGACACACAGAGACACACAGACACAGACACACAC>-
[Show Flanks]
- Chromosome:
- 20:31846104
(GRCh38)
20:30433907
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846099:ACACGTACAGACACACAGAGACACACAGACACAGACACACAC:ACAC
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000009/1
(GnomAD)
- HGVS:
20.
rs1482023532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:31846544
(GRCh38)
20:30434347
(GRCh37)
- Canonical SPDI:
- NC_000020.11:31846543:C:A
- Gene:
- FOXS1 (Varview), DUSP15 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS: