Links from Gene
Items: 1 to 20 of 2018
1.
rs1491490430 has merged into rs143084012 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA,TATATA
[Show Flanks]
- Chromosome:
- 9:8856552
(GRCh38)
9:8856552
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8856540:ATATATATATATA:ATATATATATA,NC_000009.12:8856540:ATATATATATATA:ATATATATATATATA,NC_000009.12:8856540:ATATATATATATA:ATATATATATATATATA
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATA=0.03003/513
(
ALFA)
AT=0.025/1
(GENOME_DK)
AT=0.04206/9
(Vietnamese)
AT=0.05981/300
(1000Genomes)
AT=0.07924/355
(Estonian)
AT=0.08447/1416
(TOMMO)
AT=0.09018/90
(GoNL)
AT=0.10167/61
(NorthernSweden)
- HGVS:
2.
rs1491361782 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:8858830
(GRCh38)
9:8858830
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8858828:ATA:A
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.005564/66
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.034125/4284
(GnomAD)
-=0.046667/28
(NorthernSweden)
-=0.06041/224
(TWINSUK)
-=0.077582/299
(ALSPAC)
- HGVS:
3.
rs1491018513 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 9:8858695
(GRCh38)
9:8858695
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8858694:TG:
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00023/6
(GnomAD)
- HGVS:
4.
rs1490098836 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTT>-
[Show Flanks]
- Chromosome:
- 9:8858539
(GRCh38)
9:8858539
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8858537:TCTTT:T
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
6.
rs1489383416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:8857931
(GRCh38)
9:8857931
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8857930:A:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00059/7
(
ALFA)
C=0.00359/59
(TOMMO)
C=0.01482/26
(Korea1K)
C=0.04413/124
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1488538760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:8857532
(GRCh38)
9:8857532
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8857531:C:G,NC_000009.12:8857531:C:T
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
8.
rs1488102698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:8860326
(GRCh38)
9:8860326
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8860325:A:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1488102199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:8857665
(GRCh38)
9:8857665
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8857664:C:T
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
NC_000009.12:g.8857665C>T, NC_000009.11:g.8857665C>T, NG_033963.1:g.1760059G>A, NM_001171025.2:c.-131G>A, NM_001377958.1:c.-131G>A, NM_001378058.1:c.-131G>A, NM_001377947.1:c.-397G>A, NM_001377946.1:c.-131G>A, XM_047423643.1:c.-131G>A, XM_047423646.1:c.-131G>A, XM_047423648.1:c.-131G>A, XM_047423655.1:c.-131G>A, XM_047423656.1:c.-131G>A, XM_047423658.1:c.-131G>A, XM_047423659.1:c.-131G>A, XM_047423660.1:c.-131G>A
10.
rs1487555453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:8857741
(GRCh38)
9:8857741
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8857740:C:A
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000042/11
(TOPMED)
A=0.000312/2
(1000Genomes)
- HGVS:
NC_000009.12:g.8857741C>A, NC_000009.11:g.8857741C>A, NG_033963.1:g.1759983G>T, NM_001171025.2:c.-207G>T, NM_001377958.1:c.-207G>T, NM_001378058.1:c.-207G>T, NM_001377947.1:c.-473G>T, NM_001377946.1:c.-207G>T, XM_047423643.1:c.-207G>T, XM_047423646.1:c.-207G>T, XM_047423648.1:c.-207G>T, XM_047423655.1:c.-207G>T, XM_047423656.1:c.-207G>T, XM_047423658.1:c.-207G>T, XM_047423659.1:c.-207G>T, XM_047423660.1:c.-207G>T
11.
rs1487503416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 9:8858117
(GRCh38)
9:8858117
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8858116:T:A,NC_000009.12:8858116:T:G
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487482294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:8857882
(GRCh38)
9:8857882
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8857881:G:A
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486619345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:8858613
(GRCh38)
9:8858613
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8858612:G:A,NC_000009.12:8858612:G:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486608707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:8860317
(GRCh38)
9:8860317
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8860316:G:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1486431361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:8860203
(GRCh38)
9:8860203
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8860202:C:T
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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.
rs1485638642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:8858348
(GRCh38)
9:8858348
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8858347:G:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
18.
rs1485626620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:8861274
(GRCh38)
9:8861274
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8861273:G:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485450991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:8860555
(GRCh38)
9:8860555
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8860554:C:G,NC_000009.12:8860554:C:T
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
20.
rs1485432319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:8861630
(GRCh38)
9:8861630
(GRCh37)
- Canonical SPDI:
- NC_000009.12:8861629:T:C
- Gene:
- PTPRD (Varview), PTPRD-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS: