Links from Gene
Items: 1 to 20 of 1000
1.
rs1491585789 has merged into rs33921360 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:58281745
(GRCh38)
14:58748463
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:58281734:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.1642/633
(ALSPAC)
T=0.3682/1844
(1000Genomes)
- HGVS:
NC_000014.9:g.58281745_58281752del, NC_000014.9:g.58281746_58281752del, NC_000014.9:g.58281747_58281752del, NC_000014.9:g.58281748_58281752del, NC_000014.9:g.58281749_58281752del, NC_000014.9:g.58281750_58281752del, NC_000014.9:g.58281751_58281752del, NC_000014.9:g.58281752del, NC_000014.9:g.58281752dup, NC_000014.9:g.58281751_58281752dup, NC_000014.9:g.58281750_58281752dup, NC_000014.8:g.58748463_58748470del, NC_000014.8:g.58748464_58748470del, NC_000014.8:g.58748465_58748470del, NC_000014.8:g.58748466_58748470del, NC_000014.8:g.58748467_58748470del, NC_000014.8:g.58748468_58748470del, NC_000014.8:g.58748469_58748470del, NC_000014.8:g.58748470del, NC_000014.8:g.58748470dup, NC_000014.8:g.58748469_58748470dup, NC_000014.8:g.58748468_58748470dup
2.
rs1491548276 has merged into rs59655145 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACAC>-,AC,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC
[Show Flanks]
- Chromosome:
- 14:58293758
(GRCh38)
14:58760476
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58293747:ACACACACACACACACAC:ACACACACAC,NC_000014.9:58293747:ACACACACACACACACAC:ACACACACACAC,NC_000014.9:58293747:ACACACACACACACACAC:ACACACACACACAC,NC_000014.9:58293747:ACACACACACACACACAC:ACACACACACACACAC,NC_000014.9:58293747:ACACACACACACACACAC:ACACACACACACACACACAC,NC_000014.9:58293747:ACACACACACACACACAC:ACACACACACACACACACACAC,NC_000014.9:58293747:ACACACACACACACACAC:ACACACACACACACACACACACAC
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACAC=0./0
(
ALFA)
AC=0.2816/281
(GoNL)
AC=0.32/192
(NorthernSweden)
AC=0.35/14
(GENOME_DK)
AC=0.3718/1825
(1000Genomes)
- HGVS:
NC_000014.9:g.58293748AC[5], NC_000014.9:g.58293748AC[6], NC_000014.9:g.58293748AC[7], NC_000014.9:g.58293748AC[8], NC_000014.9:g.58293748AC[10], NC_000014.9:g.58293748AC[11], NC_000014.9:g.58293748AC[12], NC_000014.8:g.58760466AC[5], NC_000014.8:g.58760466AC[6], NC_000014.8:g.58760466AC[7], NC_000014.8:g.58760466AC[8], NC_000014.8:g.58760466AC[10], NC_000014.8:g.58760466AC[11], NC_000014.8:g.58760466AC[12], NG_052999.1:g.364AC[5], NG_052999.1:g.364AC[6], NG_052999.1:g.364AC[7], NG_052999.1:g.364AC[8], NG_052999.1:g.364AC[10], NG_052999.1:g.364AC[11], NG_052999.1:g.364AC[12]
3.
rs1491529470 has merged into rs907150655 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT,CTCTCT
[Show Flanks]
- Chromosome:
- 14:58267032
(GRCh38)
14:58733750
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58267024:TCTCTCTCTCT:TCTCTCT,NC_000014.9:58267024:TCTCTCTCTCT:TCTCTCTCT,NC_000014.9:58267024:TCTCTCTCTCT:TCTCTCTCTCTCT
- Gene:
- PSMA3 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCT=0./0
(
ALFA)
TC=0.000038/10
(TOPMED)
- HGVS:
NC_000014.9:g.58267026CT[3], NC_000014.9:g.58267026CT[4], NC_000014.9:g.58267026CT[6], NC_000014.8:g.58733744CT[3], NC_000014.8:g.58733744CT[4], NC_000014.8:g.58733744CT[6], NR_029434.1:n.814GA[3], NR_029434.1:n.814GA[4], NR_029434.1:n.814GA[6], NR_029435.1:n.773GA[3], NR_029435.1:n.773GA[4], NR_029435.1:n.773GA[6]
5.
rs1491498727 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:58274245
(GRCh38)
14:58740963
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58274244:CA:
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491474076 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:58271327
(GRCh38)
14:58738045
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58271325:TCT:T
- Gene:
- PSMA3 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
-=0.000028/3
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
8.
rs1491399948 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:58274245
(GRCh38)
14:58740964
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58274245:A:AA
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1491378016 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 14:58287317
(GRCh38)
14:58754035
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58287316:GT:
- Gene:
- LINC00216 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
10.
rs1491374231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 14:58287317
(GRCh38)
14:58754036
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58287317:T:TT
- Gene:
- LINC00216 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
11.
rs1491263899 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 14:58293764
(GRCh38)
14:58760483
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58293764:CC:CCCC
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCCC=0./0
(
ALFA)
CC=0.000039/5
(GnomAD)
- HGVS:
12.
rs1491252409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 14:58266098
(GRCh38)
14:58732817
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58266098:A:AA
- Gene:
- PSMA3 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1491202030 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 14:58267025
(GRCh38)
14:58733744
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58267025:C:CCC
- Gene:
- PSMA3 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0.000224/1
(
ALFA)
CC=0.000007/1
(GnomAD)
CC=0.000223/1
(Estonian)
- HGVS:
15.
rs1491038386 has merged into rs60528514 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:58271337
(GRCh38)
14:58738055
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:58271327:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PSMA3 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
-=0.1937/970
(1000Genomes)
- HGVS:
NC_000014.9:g.58271337_58271347del, NC_000014.9:g.58271338_58271347del, NC_000014.9:g.58271339_58271347del, NC_000014.9:g.58271340_58271347del, NC_000014.9:g.58271341_58271347del, NC_000014.9:g.58271342_58271347del, NC_000014.9:g.58271343_58271347del, NC_000014.9:g.58271344_58271347del, NC_000014.9:g.58271345_58271347del, NC_000014.9:g.58271346_58271347del, NC_000014.9:g.58271347del, NC_000014.9:g.58271347dup, NC_000014.9:g.58271346_58271347dup, NC_000014.9:g.58271345_58271347dup, NC_000014.9:g.58271344_58271347dup, NC_000014.9:g.58271343_58271347dup, NC_000014.9:g.58271342_58271347dup, NC_000014.9:g.58271341_58271347dup, NC_000014.9:g.58271340_58271347dup, NC_000014.9:g.58271339_58271347dup, NC_000014.9:g.58271338_58271347dup, NC_000014.9:g.58271347_58271348insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.58738055_58738065del, NC_000014.8:g.58738056_58738065del, NC_000014.8:g.58738057_58738065del, NC_000014.8:g.58738058_58738065del, NC_000014.8:g.58738059_58738065del, NC_000014.8:g.58738060_58738065del, NC_000014.8:g.58738061_58738065del, NC_000014.8:g.58738062_58738065del, NC_000014.8:g.58738063_58738065del, NC_000014.8:g.58738064_58738065del, NC_000014.8:g.58738065del, NC_000014.8:g.58738065dup, NC_000014.8:g.58738064_58738065dup, NC_000014.8:g.58738063_58738065dup, NC_000014.8:g.58738062_58738065dup, NC_000014.8:g.58738061_58738065dup, NC_000014.8:g.58738060_58738065dup, NC_000014.8:g.58738059_58738065dup, NC_000014.8:g.58738058_58738065dup, NC_000014.8:g.58738057_58738065dup, NC_000014.8:g.58738056_58738065dup, NC_000014.8:g.58738065_58738066insTTTTTTTTTTTTTTTTTTTTTTTT
16.
rs1490979745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:58283046
(GRCh38)
14:58749764
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58283045:C:T
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
17.
rs1490847140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:58270638
(GRCh38)
14:58737356
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58270637:G:A
- Gene:
- PSMA3 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490836841 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:58290522
(GRCh38)
14:58757240
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58290521:T:C
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1490719007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:58277115
(GRCh38)
14:58743833
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58277114:C:T
- Gene:
- PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490699167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:58289626
(GRCh38)
14:58756344
(GRCh37)
- Canonical SPDI:
- NC_000014.9:58289625:T:C
- Gene:
- LINC00216 (Varview), PSMA3-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS: