Links from Gene
Items: 1 to 20 of 1058
1.
rs1490799411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:28789775
(GRCh38)
15:29034921
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789774:C:A,NC_000015.10:28789774:C:T
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000342/1
(KOREAN)
- HGVS:
2.
rs1489558348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:28788662
(GRCh38)
15:29033808
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788661:T:C
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
3.
rs1488321582 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:28787218
(GRCh38)
15:29032364
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28787217:C:T
- Gene:
- LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00011/3
(TOMMO)
- HGVS:
4.
rs1488208618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:28789206
(GRCh38)
15:29034352
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789205:G:C
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000016/2
(GnomAD)
- HGVS:
6.
rs1487667965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:28787965
(GRCh38)
15:29033111
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28787964:A:G
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
7.
rs1487572548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:28789327
(GRCh38)
15:29034473
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789326:C:G
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000016/2
(GnomAD)
- HGVS:
8.
rs1487445596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:28788985
(GRCh38)
15:29034131
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788984:G:A
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1487388107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:28786727
(GRCh38)
15:29031873
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28786726:A:G
- Gene:
- LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1487304715 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:28789634
(GRCh38)
15:29034780
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789633:G:T
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486132045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:28788047
(GRCh38)
15:29033193
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788046:G:A,NC_000015.10:28788046:G:T
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485096716 has merged into rs1204977580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGCCCGCCACTTCAGGG>-,GGGCCCGCCACTTCAGGGGGGCCCGCCACTTCAGGG
[Show Flanks]
- Chromosome:
- 15:28788956
(GRCh38)
15:29034102
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788943:GCCACTTCAGGGGGGCCCGCCACTTCAGGG:GCCACTTCAGGG,NC_000015.10:28788943:GCCACTTCAGGGGGGCCCGCCACTTCAGGG:GCCACTTCAGGGGGGCCCGCCACTTCAGGGGGGCCCGCCACTTCAGGG
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCACTTCAGGGGGGCCCGCCACTTCAGGGGGGCCCGCCACTTCAGGG=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
- HGVS:
13.
rs1484470482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:28786424
(GRCh38)
15:29031570
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28786423:T:C
- Gene:
- LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
14.
rs1484439789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:28789445
(GRCh38)
15:29034591
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789444:G:A
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1484419189 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GATT
[Show Flanks]
- Chromosome:
- 15:28788145
(GRCh38)
15:29033292
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788145::GATT
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
GATT=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483935753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:28789648
(GRCh38)
15:29034794
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789647:C:T
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1483745398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:28788824
(GRCh38)
15:29033970
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788823:G:A,NC_000015.10:28788823:G:C
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000285/4
(
ALFA)
C=0.000035/1
(TOMMO)
A=0.000121/32
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000157/22
(GnomAD)
- HGVS:
19.
rs1481587653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:28789086
(GRCh38)
15:29034232
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28789085:G:C
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1481334171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:28788284
(GRCh38)
15:29033430
(GRCh37)
- Canonical SPDI:
- NC_000015.10:28788283:G:C
- Gene:
- PDCD6IPP2 (Varview), LOC100289656 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS: