Links from Gene
Items: 1 to 20 of 697
1.
rs1491471285 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:21470769
(GRCh38)
7:21510387
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21470768:AG:
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000212/29
(GnomAD)
-=0.002183/4
(Korea1K)
- HGVS:
2.
rs1491004621 has merged into rs11406915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:21470760
(GRCh38)
7:21510378
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000094/25
(TOPMED)
- HGVS:
NC_000007.14:g.21470760_21470769del, NC_000007.14:g.21470761_21470769del, NC_000007.14:g.21470762_21470769del, NC_000007.14:g.21470763_21470769del, NC_000007.14:g.21470764_21470769del, NC_000007.14:g.21470765_21470769del, NC_000007.14:g.21470766_21470769del, NC_000007.14:g.21470767_21470769del, NC_000007.14:g.21470768_21470769del, NC_000007.14:g.21470769del, NC_000007.14:g.21470769dup, NC_000007.14:g.21470768_21470769dup, NC_000007.14:g.21470767_21470769dup, NC_000007.14:g.21470766_21470769dup, NC_000007.14:g.21470765_21470769dup, NC_000007.14:g.21470750_21470769A[23]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.21510378_21510387del, NC_000007.13:g.21510379_21510387del, NC_000007.13:g.21510380_21510387del, NC_000007.13:g.21510381_21510387del, NC_000007.13:g.21510382_21510387del, NC_000007.13:g.21510383_21510387del, NC_000007.13:g.21510384_21510387del, NC_000007.13:g.21510385_21510387del, NC_000007.13:g.21510386_21510387del, NC_000007.13:g.21510387del, NC_000007.13:g.21510387dup, NC_000007.13:g.21510386_21510387dup, NC_000007.13:g.21510385_21510387dup, NC_000007.13:g.21510384_21510387dup, NC_000007.13:g.21510383_21510387dup, NC_000007.13:g.21510368_21510387A[23]GAAAAAAAAAAAAAAAAAAAAA[1], NG_050737.1:g.47727_47736del, NG_050737.1:g.47728_47736del, NG_050737.1:g.47729_47736del, NG_050737.1:g.47730_47736del, NG_050737.1:g.47731_47736del, NG_050737.1:g.47732_47736del, NG_050737.1:g.47733_47736del, NG_050737.1:g.47734_47736del, NG_050737.1:g.47735_47736del, NG_050737.1:g.47736del, NG_050737.1:g.47736dup, NG_050737.1:g.47735_47736dup, NG_050737.1:g.47734_47736dup, NG_050737.1:g.47733_47736dup, NG_050737.1:g.47732_47736dup, NG_050737.1:g.47717_47736A[23]GAAAAAAAAAAAAAAAAAAAAA[1]
3.
rs1489477943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:21470366
(GRCh38)
7:21509984
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21470365:C:G
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489222395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:21471412
(GRCh38)
7:21511030
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471411:T:C
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487021753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:21469543
(GRCh38)
7:21509161
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469542:T:C
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000084/1
(
ALFA)
C=0.000016/2
(GnomAD)
- HGVS:
6.
rs1486390484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:21469865
(GRCh38)
7:21509483
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469864:A:G
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1485535556 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:21471018
(GRCh38)
7:21510636
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471017:T:G
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485410669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:21470787
(GRCh38)
7:21510405
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21470786:T:A
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00134/6
(
ALFA)
A=0.00134/6
(Estonian)
A=0.00156/26
(TOMMO)
- HGVS:
9.
rs1485225714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 7:21469966
(GRCh38)
7:21509584
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469965:A:G,NC_000007.14:21469965:A:T
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1484064792 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:21471113
(GRCh38)
7:21510731
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471112:G:T
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1483637635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:21471216
(GRCh38)
7:21510834
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471215:C:G,NC_000007.14:21471215:C:T
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1482135094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:21469118
(GRCh38)
7:21508736
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469117:T:C
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1479003513 has merged into rs11406915 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 7:21470760
(GRCh38)
7:21510378
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:21470749:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000094/25
(TOPMED)
- HGVS:
NC_000007.14:g.21470760_21470769del, NC_000007.14:g.21470761_21470769del, NC_000007.14:g.21470762_21470769del, NC_000007.14:g.21470763_21470769del, NC_000007.14:g.21470764_21470769del, NC_000007.14:g.21470765_21470769del, NC_000007.14:g.21470766_21470769del, NC_000007.14:g.21470767_21470769del, NC_000007.14:g.21470768_21470769del, NC_000007.14:g.21470769del, NC_000007.14:g.21470769dup, NC_000007.14:g.21470768_21470769dup, NC_000007.14:g.21470767_21470769dup, NC_000007.14:g.21470766_21470769dup, NC_000007.14:g.21470765_21470769dup, NC_000007.14:g.21470750_21470769A[23]GAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.21510378_21510387del, NC_000007.13:g.21510379_21510387del, NC_000007.13:g.21510380_21510387del, NC_000007.13:g.21510381_21510387del, NC_000007.13:g.21510382_21510387del, NC_000007.13:g.21510383_21510387del, NC_000007.13:g.21510384_21510387del, NC_000007.13:g.21510385_21510387del, NC_000007.13:g.21510386_21510387del, NC_000007.13:g.21510387del, NC_000007.13:g.21510387dup, NC_000007.13:g.21510386_21510387dup, NC_000007.13:g.21510385_21510387dup, NC_000007.13:g.21510384_21510387dup, NC_000007.13:g.21510383_21510387dup, NC_000007.13:g.21510368_21510387A[23]GAAAAAAAAAAAAAAAAAAAAA[1], NG_050737.1:g.47727_47736del, NG_050737.1:g.47728_47736del, NG_050737.1:g.47729_47736del, NG_050737.1:g.47730_47736del, NG_050737.1:g.47731_47736del, NG_050737.1:g.47732_47736del, NG_050737.1:g.47733_47736del, NG_050737.1:g.47734_47736del, NG_050737.1:g.47735_47736del, NG_050737.1:g.47736del, NG_050737.1:g.47736dup, NG_050737.1:g.47735_47736dup, NG_050737.1:g.47734_47736dup, NG_050737.1:g.47733_47736dup, NG_050737.1:g.47732_47736dup, NG_050737.1:g.47717_47736A[23]GAAAAAAAAAAAAAAAAAAAAA[1]
14.
rs1478956314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:21471203
(GRCh38)
7:21510821
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471202:A:G
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,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:
15.
rs1478873819 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GGATCG
[Show Flanks]
- Chromosome:
- 7:21471614
(GRCh38)
7:21511233
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471614::GGATCG
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGATCG=0.000071/1
(
ALFA)
GGATCG=0.000011/3
(TOPMED)
- HGVS:
16.
rs1478035242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:21469479
(GRCh38)
7:21509097
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469478:A:G
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
17.
rs1477911664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:21471636
(GRCh38)
7:21511254
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21471635:G:A
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1475997316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:21469695
(GRCh38)
7:21509313
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469694:C:T
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1475740478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:21469954
(GRCh38)
7:21509572
(GRCh37)
- Canonical SPDI:
- NC_000007.14:21469953:A:G
- Gene:
- SP4 (Varview), MIR1183 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: