Links from Gene
Items: 1 to 20 of 33148
1.
rs1491557387 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:99141824
(GRCh38)
1:99607381
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99141824::G
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000073/1
(GnomAD)
- HGVS:
2.
rs1491491838 has merged into rs537618614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGA>-,GA,GAGAGA,GAGAGAGA
[Show Flanks]
- Chromosome:
- 1:99027779
(GRCh38)
1:99493335
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99027768:GAGAGAGAGAGAGA:GAGAGAGAGA,NC_000001.11:99027768:GAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000001.11:99027768:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000001.11:99027768:GAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGA=0./0
(
ALFA)
GA=0.03874/194
(1000Genomes)
- HGVS:
3.
rs1491456972 has merged into rs34008484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:99141831
(GRCh38)
1:99607387
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:99141823:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.275/11
(GENOME_DK)
A=0.4513/2260
(1000Genomes)
- HGVS:
NC_000001.11:g.99141831_99141838del, NC_000001.11:g.99141835_99141838del, NC_000001.11:g.99141836_99141838del, NC_000001.11:g.99141837_99141838del, NC_000001.11:g.99141838del, NC_000001.11:g.99141838dup, NC_000001.11:g.99141837_99141838dup, NC_000001.11:g.99141836_99141838dup, NC_000001.11:g.99141835_99141838dup, NC_000001.11:g.99141832_99141838dup, NC_000001.11:g.99141829_99141838dup, NC_000001.10:g.99607387_99607394del, NC_000001.10:g.99607391_99607394del, NC_000001.10:g.99607392_99607394del, NC_000001.10:g.99607393_99607394del, NC_000001.10:g.99607394del, NC_000001.10:g.99607394dup, NC_000001.10:g.99607393_99607394dup, NC_000001.10:g.99607392_99607394dup, NC_000001.10:g.99607391_99607394dup, NC_000001.10:g.99607388_99607394dup, NC_000001.10:g.99607385_99607394dup
6.
rs1491375396 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:99088089
(GRCh38)
1:99553645
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99088088:GA:
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00021/1
(TOMMO)
- HGVS:
7.
rs1491361613 has merged into rs34891713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 1:99088097
(GRCh38)
1:99553653
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99088089:AAAAAAAAA:AAAAAAA,NC_000001.11:99088089:AAAAAAAAA:AAAAAAAA,NC_000001.11:99088089:AAAAAAAAA:AAAAAAAAAA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
A=0.075/3
(GENOME_DK)
A=0.1578/608
(ALSPAC)
A=0.158/586
(TWINSUK)
A=0.1723/172
(GoNL)
A=0.1783/893
(1000Genomes)
A=0.1933/116
(NorthernSweden)
- HGVS:
9.
rs1491245040 has merged into rs1003276607 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATAATTATA>-,TATAATTATATATAATTATA
[Show Flanks]
- Chromosome:
- 1:99111854
(GRCh38)
1:99577410
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99111841:TATATAATTATATATAATTATA:TATATAATTATA,NC_000001.11:99111841:TATATAATTATATATAATTATA:TATATAATTATATATAATTATATATAATTATA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATAATTATA=0.00007/1
(
ALFA)
- HGVS:
10.
rs1491241045 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:99111846
(GRCh38)
1:99577402
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99111841:TATATA:TATA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TATA=0./0
(
ALFA)
-=0.000067/7
(GnomAD)
- HGVS:
12.
rs1491086290 has merged into rs35064860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:99110510
(GRCh38)
1:99576066
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:99110497:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.25084/150
(NorthernSweden)
T=0.30312/1518
(1000Genomes)
T=0.375/15
(GENOME_DK)
- HGVS:
NC_000001.11:g.99110510_99110511del, NC_000001.11:g.99110511del, NC_000001.11:g.99110511dup, NC_000001.11:g.99110510_99110511dup, NC_000001.11:g.99110509_99110511dup, NC_000001.11:g.99110508_99110511dup, NC_000001.11:g.99110511_99110512insTTTTTTTTTTTTTTT, NC_000001.10:g.99576066_99576067del, NC_000001.10:g.99576067del, NC_000001.10:g.99576067dup, NC_000001.10:g.99576066_99576067dup, NC_000001.10:g.99576065_99576067dup, NC_000001.10:g.99576064_99576067dup, NC_000001.10:g.99576067_99576068insTTTTTTTTTTTTTTT
13.
rs1491084071 has merged into rs10655912 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:99104623
(GRCh38)
1:99570179
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:99104613:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
AAA=0.038462/23
(NorthernSweden)
-=0.075879/380
(1000Genomes)
AAA=0.099245/368
(TWINSUK)
AAA=0.110535/426
(ALSPAC)
AAA=0.15/6
(GENOME_DK)
- HGVS:
NC_000001.11:g.99104623_99104627del, NC_000001.11:g.99104625_99104627del, NC_000001.11:g.99104626_99104627del, NC_000001.11:g.99104627del, NC_000001.11:g.99104627dup, NC_000001.11:g.99104626_99104627dup, NC_000001.11:g.99104625_99104627dup, NC_000001.11:g.99104624_99104627dup, NC_000001.11:g.99104615_99104627dup, NC_000001.10:g.99570179_99570183del, NC_000001.10:g.99570181_99570183del, NC_000001.10:g.99570182_99570183del, NC_000001.10:g.99570183del, NC_000001.10:g.99570183dup, NC_000001.10:g.99570182_99570183dup, NC_000001.10:g.99570181_99570183dup, NC_000001.10:g.99570180_99570183dup, NC_000001.10:g.99570171_99570183dup
14.
rs1491052864 has merged into rs3077508 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:99074060
(GRCh38)
1:99539616
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:99074048:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.99074060_99074061del, NC_000001.11:g.99074061del, NC_000001.11:g.99074061dup, NC_000001.11:g.99074060_99074061dup, NC_000001.11:g.99074059_99074061dup, NC_000001.11:g.99074058_99074061dup, NC_000001.11:g.99074057_99074061dup, NC_000001.11:g.99074055_99074061dup, NC_000001.10:g.99539616_99539617del, NC_000001.10:g.99539617del, NC_000001.10:g.99539617dup, NC_000001.10:g.99539616_99539617dup, NC_000001.10:g.99539615_99539617dup, NC_000001.10:g.99539614_99539617dup, NC_000001.10:g.99539613_99539617dup, NC_000001.10:g.99539611_99539617dup
15.
rs1491028305 has merged into rs59686592 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATATATATATATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 1:99003065
(GRCh38)
1:99468621
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:99003056:ATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
- Gene:
- PLPPR5 (Varview), PLPPR5-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAT=0./0
(
ALFA)
ATATATATATATATATATATAT=0.15/6
(GENOME_DK)
- HGVS:
NC_000001.11:g.99003057AT[4], NC_000001.11:g.99003057AT[5], NC_000001.11:g.99003057AT[6], NC_000001.11:g.99003057AT[7], NC_000001.11:g.99003057AT[8], NC_000001.11:g.99003057AT[9], NC_000001.11:g.99003057AT[10], NC_000001.11:g.99003057AT[11], NC_000001.11:g.99003057AT[12], NC_000001.11:g.99003057AT[13], NC_000001.11:g.99003057AT[14], NC_000001.11:g.99003057AT[15], NC_000001.11:g.99003057AT[16], NC_000001.11:g.99003057AT[17], NC_000001.11:g.99003057AT[18], NC_000001.11:g.99003057AT[19], NC_000001.11:g.99003057AT[21], NC_000001.11:g.99003057AT[22], NC_000001.11:g.99003057AT[23], NC_000001.11:g.99003057AT[24], NC_000001.11:g.99003057AT[25], NC_000001.11:g.99003057AT[26], NC_000001.11:g.99003057AT[27], NC_000001.11:g.99003057AT[28], NC_000001.11:g.99003057AT[31], NC_000001.11:g.99003057AT[32], NC_000001.10:g.99468613AT[4], NC_000001.10:g.99468613AT[5], NC_000001.10:g.99468613AT[6], NC_000001.10:g.99468613AT[7], NC_000001.10:g.99468613AT[8], NC_000001.10:g.99468613AT[9], NC_000001.10:g.99468613AT[10], NC_000001.10:g.99468613AT[11], NC_000001.10:g.99468613AT[12], NC_000001.10:g.99468613AT[13], NC_000001.10:g.99468613AT[14], NC_000001.10:g.99468613AT[15], NC_000001.10:g.99468613AT[16], NC_000001.10:g.99468613AT[17], NC_000001.10:g.99468613AT[18], NC_000001.10:g.99468613AT[19], NC_000001.10:g.99468613AT[21], NC_000001.10:g.99468613AT[22], NC_000001.10:g.99468613AT[23], NC_000001.10:g.99468613AT[24], NC_000001.10:g.99468613AT[25], NC_000001.10:g.99468613AT[26], NC_000001.10:g.99468613AT[27], NC_000001.10:g.99468613AT[28], NC_000001.10:g.99468613AT[31], NC_000001.10:g.99468613AT[32]
16.
rs1490997386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:99048672
(GRCh38)
1:99514228
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99048671:G:A
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000177/3
(TOMMO)
- HGVS:
18.
rs1490982044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:99049743
(GRCh38)
1:99515299
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99049742:C:T
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490954682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:99101235
(GRCh38)
1:99566791
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99101234:T:A
- Gene:
- PLPPR5-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1490954586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:99064937
(GRCh38)
1:99530493
(GRCh37)
- Canonical SPDI:
- NC_000001.11:99064936:A:G
- Gene:
- PLPPR5-AS1 (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: