Links from Gene
Items: 1 to 20 of 1000
1.
rs1490998034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 21:31657785
(GRCh38)
21:33030098
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31657784:C:A,NC_000021.9:31657784:C:T
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490913967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 21:31666295
(GRCh38)
21:33038608
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31666294:T:G
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- 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:
3.
rs1490678272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:31660591
(GRCh38)
21:33032904
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31660590:A:G
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- 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:
4.
rs1490517369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 21:31660274
(GRCh38)
21:33032588
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31660274:CCC:CCCC
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490337017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:31660960
(GRCh38)
21:33033273
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31660959:G:A
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
6.
rs1490224587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 21:31660204
(GRCh38)
21:33032517
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31660203:C:G,NC_000021.9:31660203:C:T
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490189031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:31661051
(GRCh38)
21:33033364
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31661050:C:T
- Gene:
- SOD1 (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:
8.
rs1490179845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAA>-
[Show Flanks]
- Chromosome:
- 21:31658870
(GRCh38)
21:33031183
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31658862:CAAACAAACAA:CAAACAA
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAAACAA=0./0
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000045/12
(TOPMED)
-=0.000546/1
(Korea1K)
- HGVS:
9.
rs1489203912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:31664676
(GRCh38)
21:33036989
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31664675:T:A
- Gene:
- SOD1 (Varview), LOC124900469 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489004175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:31663798
(GRCh38)
21:33036111
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31663797:T:C
- Gene:
- SOD1 (Varview), LOC124900469 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS:
11.
rs1488875015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 21:31664266
(GRCh38)
21:33036579
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31664265:C:G
- Gene:
- SOD1 (Varview), LOC124900469 (Varview)
- Functional Consequence:
- 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=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488590341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 21:31660238
(GRCh38)
21:33032551
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31660237:G:A
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487782574 has merged into rs397866461 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 21:31665983
(GRCh38)
21:33038296
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:31665970:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000021.9:g.31665983_31665989del, NC_000021.9:g.31665985_31665989del, NC_000021.9:g.31665986_31665989del, NC_000021.9:g.31665987_31665989del, NC_000021.9:g.31665988_31665989del, NC_000021.9:g.31665989del, NC_000021.9:g.31665989dup, NC_000021.9:g.31665988_31665989dup, NC_000021.9:g.31665987_31665989dup, NC_000021.9:g.31665986_31665989dup, NC_000021.8:g.33038296_33038302del, NC_000021.8:g.33038298_33038302del, NC_000021.8:g.33038299_33038302del, NC_000021.8:g.33038300_33038302del, NC_000021.8:g.33038301_33038302del, NC_000021.8:g.33038302del, NC_000021.8:g.33038302dup, NC_000021.8:g.33038301_33038302dup, NC_000021.8:g.33038300_33038302dup, NC_000021.8:g.33038299_33038302dup, NG_008689.1:g.11362_11368del, NG_008689.1:g.11364_11368del, NG_008689.1:g.11365_11368del, NG_008689.1:g.11366_11368del, NG_008689.1:g.11367_11368del, NG_008689.1:g.11368del, NG_008689.1:g.11368dup, NG_008689.1:g.11367_11368dup, NG_008689.1:g.11366_11368dup, NG_008689.1:g.11365_11368dup
14.
rs1487750461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 21:31665957
(GRCh38)
21:33038270
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31665956:A:T
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1487468249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:31665545
(GRCh38)
21:33037858
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31665544:T:C
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- 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.
rs1487385042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 21:31658995
(GRCh38)
21:33031308
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31658994:T:C
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1487223234 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 21:31668754
(GRCh38)
21:33041067
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31668753:T:A
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1487061698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 21:31659431
(GRCh38)
21:33031744
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31659430:C:T
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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.
rs1486991070 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 21:31659959
(GRCh38)
21:33032272
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31659958:G:C
- Gene:
- SOD1 (Varview)
- Functional Consequence:
- 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:
20.
rs1486917647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 21:31663369
(GRCh38)
21:33035682
(GRCh37)
- Canonical SPDI:
- NC_000021.9:31663368:A:G
- Gene:
- SOD1 (Varview), LOC124900469 (Varview)
- Functional Consequence:
- 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=0.000007/1
(GnomAD)
- HGVS: