Links from Gene
Items: 1 to 20 of 9789
1.
rs1491462520 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:47927531
(GRCh38)
17:46004897
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47927530:CA:
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01054/125
(
ALFA)
-=0.00052/33
(GnomAD)
-=0.00502/83
(TOMMO)
- HGVS:
2.
rs1491424793 has merged into rs61309845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:47927546
(GRCh38)
17:46004912
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47927531:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000017.11:g.47927546_47927552del, NC_000017.11:g.47927547_47927552del, NC_000017.11:g.47927549_47927552del, NC_000017.11:g.47927550_47927552del, NC_000017.11:g.47927551_47927552del, NC_000017.11:g.47927552del, NC_000017.11:g.47927552dup, NC_000017.11:g.47927551_47927552dup, NC_000017.11:g.47927549_47927552dup, NC_000017.11:g.47927548_47927552dup, NC_000017.11:g.47927547_47927552dup, NC_000017.11:g.47927546_47927552dup, NC_000017.11:g.47927544_47927552dup, NC_000017.10:g.46004912_46004918del, NC_000017.10:g.46004913_46004918del, NC_000017.10:g.46004915_46004918del, NC_000017.10:g.46004916_46004918del, NC_000017.10:g.46004917_46004918del, NC_000017.10:g.46004918del, NC_000017.10:g.46004918dup, NC_000017.10:g.46004917_46004918dup, NC_000017.10:g.46004915_46004918dup, NC_000017.10:g.46004914_46004918dup, NC_000017.10:g.46004913_46004918dup, NC_000017.10:g.46004912_46004918dup, NC_000017.10:g.46004910_46004918dup
3.
rs1491360123 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 17:47919015
(GRCh38)
17:45996381
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47919014:AT:
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000142/2
(
ALFA)
-=0.000072/10
(GnomAD)
-=0.000091/24
(TOPMED)
-=0.010119/39
(ALSPAC)
-=0.012406/46
(TWINSUK)
- HGVS:
4.
rs1491332454 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 17:47919016
(GRCh38)
17:45996382
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47919015:TG:
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0804/298
(TWINSUK)
-=0.081/312
(ALSPAC)
- HGVS:
5.
rs1491328673 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 17:47919848
(GRCh38)
17:45997214
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47919846:TCT:T
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.003204/38
(
ALFA)
-=0.001197/133
(GnomAD)
-=0.229504/851
(TWINSUK)
-=0.259211/999
(ALSPAC)
- HGVS:
6.
rs1491277001 has merged into rs58719887 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 17:47939434
(GRCh38)
17:46016800
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:47939418:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.265/1327
(1000Genomes)
- HGVS:
NC_000017.11:g.47939434_47939438del, NC_000017.11:g.47939435_47939438del, NC_000017.11:g.47939436_47939438del, NC_000017.11:g.47939437_47939438del, NC_000017.11:g.47939438del, NC_000017.11:g.47939438dup, NC_000017.11:g.47939437_47939438dup, NC_000017.11:g.47939436_47939438dup, NC_000017.11:g.47939435_47939438dup, NC_000017.11:g.47939432_47939438dup, NC_000017.10:g.46016800_46016804del, NC_000017.10:g.46016801_46016804del, NC_000017.10:g.46016802_46016804del, NC_000017.10:g.46016803_46016804del, NC_000017.10:g.46016804del, NC_000017.10:g.46016804dup, NC_000017.10:g.46016803_46016804dup, NC_000017.10:g.46016802_46016804dup, NC_000017.10:g.46016801_46016804dup, NC_000017.10:g.46016798_46016804dup, NG_008744.1:g.2912_2916del, NG_008744.1:g.2913_2916del, NG_008744.1:g.2914_2916del, NG_008744.1:g.2915_2916del, NG_008744.1:g.2916del, NG_008744.1:g.2916dup, NG_008744.1:g.2915_2916dup, NG_008744.1:g.2914_2916dup, NG_008744.1:g.2913_2916dup, NG_008744.1:g.2910_2916dup
8.
rs1490952611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:47914201
(GRCh38)
17:45991567
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47914200:T:G
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490925068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:47898178
(GRCh38)
17:45975544
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47898177:G:C
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490829183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:47921975
(GRCh38)
17:45999341
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47921974:T:C
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490708897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:47904947
(GRCh38)
17:45982313
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47904946:T:C
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490378075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:47939164
(GRCh38)
17:46016530
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47939163:T:C
- Gene:
- SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000038/10
(TOPMED)
C=0.000119/2
(TOMMO)
C=0.004673/1
(Vietnamese)
- HGVS:
13.
rs1490332555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:47924593
(GRCh38)
17:46001959
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47924592:T:C
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
14.
rs1490260384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:47899853
(GRCh38)
17:45977219
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47899852:T:C
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490015277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:47922462
(GRCh38)
17:45999828
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47922461:G:A
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490000689 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 17:47906673
(GRCh38)
17:45984039
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47906672:TG:
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.47906673_47906674del, NC_000017.10:g.45984039_45984040del, XM_011525136.3:c.114_115del, XM_011525136.2:c.114_115del, XM_011525136.1:c.114_115del, XM_011525137.3:c.114_115del, XM_011525137.2:c.114_115del, XM_011525137.1:c.114_115del, XM_011525138.3:c.114_115del, XM_011525138.2:c.114_115del, XM_011525138.1:c.114_115del, XM_011525140.3:c.114_115del, XM_011525140.2:c.114_115del, XM_011525140.1:c.114_115del, XP_011523438.1:p.Glu39fs, XP_011523439.1:p.Glu39fs, XP_011523440.1:p.Glu39fs, XP_011523442.1:p.Glu39fs
18.
rs1489962806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:47923467
(GRCh38)
17:46000833
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47923466:C:T
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489851757 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:47931744
(GRCh38)
17:46009110
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47931743:C:T
- Gene:
- SP2 (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489676329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:47941486
(GRCh38)
17:46018852
(GRCh37)
- Canonical SPDI:
- NC_000017.11:47941485:T:G
- Gene:
- PNPO (Varview), SP2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: