Links from Gene
Items: 1 to 20 of 13975
2.
rs1491527545 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:124391158
(GRCh38)
9:127153437
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124391155:CACA:CA
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
3.
rs1491416771 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:124391156
(GRCh38)
9:127153436
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124391156:A:AA
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
4.
rs1491249515 has merged into rs34812724 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:124370234
(GRCh38)
9:127132513
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:124370223:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.3377/1691
(1000Genomes)
- HGVS:
NC_000009.12:g.124370234_124370239del, NC_000009.12:g.124370236_124370239del, NC_000009.12:g.124370237_124370239del, NC_000009.12:g.124370238_124370239del, NC_000009.12:g.124370239del, NC_000009.12:g.124370239dup, NC_000009.12:g.124370238_124370239dup, NC_000009.12:g.124370237_124370239dup, NC_000009.12:g.124370236_124370239dup, NC_000009.11:g.127132513_127132518del, NC_000009.11:g.127132515_127132518del, NC_000009.11:g.127132516_127132518del, NC_000009.11:g.127132517_127132518del, NC_000009.11:g.127132518del, NC_000009.11:g.127132518dup, NC_000009.11:g.127132517_127132518dup, NC_000009.11:g.127132516_127132518dup, NC_000009.11:g.127132515_127132518dup
5.
rs1491179248 has merged into rs35168987 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:124403899
(GRCh38)
9:127166178
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:124403886:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.1129/435
(ALSPAC)
T=0.45/18
(GENOME_DK)
T=0.4621/2314
(1000Genomes)
- HGVS:
NC_000009.12:g.124403899_124403906del, NC_000009.12:g.124403902_124403906del, NC_000009.12:g.124403903_124403906del, NC_000009.12:g.124403904_124403906del, NC_000009.12:g.124403905_124403906del, NC_000009.12:g.124403906del, NC_000009.12:g.124403906dup, NC_000009.12:g.124403905_124403906dup, NC_000009.12:g.124403896_124403906dup, NC_000009.11:g.127166178_127166185del, NC_000009.11:g.127166181_127166185del, NC_000009.11:g.127166182_127166185del, NC_000009.11:g.127166183_127166185del, NC_000009.11:g.127166184_127166185del, NC_000009.11:g.127166185del, NC_000009.11:g.127166185dup, NC_000009.11:g.127166184_127166185dup, NC_000009.11:g.127166175_127166185dup
6.
rs1490966144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124365361
(GRCh38)
9:127127640
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124365360:A:G
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490962880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:124381488
(GRCh38)
9:127143767
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124381487:C:T
- Gene:
- PSMB7 (Varview), LOC124902267 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
8.
rs1490930555 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:124372300
(GRCh38)
9:127134579
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124372299:T:C
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
- HGVS:
9.
rs1490738212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:124400804
(GRCh38)
9:127163083
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124400803:T:C
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00066/10
(
ALFA)
C=0.000071/10
(GnomAD)
C=0.002232/10
(Estonian)
- HGVS:
10.
rs1490719551 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:124360709
(GRCh38)
9:127122989
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124360709:GG:GGG
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490711505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:124398212
(GRCh38)
9:127160491
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124398211:C:A
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- 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:
12.
rs1490702121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:124358083
(GRCh38)
9:127120362
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124358082:G:C
- Gene:
- PSMB7 (Varview), LOC100129034 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490664189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:124413631
(GRCh38)
9:127175910
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124413630:A:G
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490638870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:124414691
(GRCh38)
9:127176970
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124414690:T:C
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
16.
rs1490545135 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:124397468
(GRCh38)
9:127159747
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124397467:C:T
- Gene:
- PSMB7 (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)
T=0.000035/1
(TOMMO)
- HGVS:
17.
rs1490494625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:124363951
(GRCh38)
9:127126230
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124363950:G:A
- Gene:
- PSMB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490471962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:124380939
(GRCh38)
9:127143218
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124380938:T:G
- Gene:
- PSMB7 (Varview), LOC124902267 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1490451548 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TTTTTTTTTTTTTG>-
[Show Flanks]
- Chromosome:
- 9:124382213
(GRCh38)
9:127144492
(GRCh37)
- Canonical SPDI:
- NC_000009.12:124382212:TTTTTTTTTTTTTG:
- Gene:
- PSMB7 (Varview), LOC124902267 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.00001/1
(GnomAD)
- HGVS: