Links from Nucleotide
Items: 1 to 20 of 897
1.
rs1490942950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:41007523
(GRCh38)
9:69080752
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007522:A:G,NC_000009.12:41007522:A:T
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490891113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:41007251
(GRCh38)
9:69080480
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007250:A:T
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000064/9
(GnomAD)
- HGVS:
3.
rs1490672655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:41039654
(GRCh38)
9:69112883
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41039653:G:A
- Gene:
- PGM5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000114/16
(GnomAD)
A=0.000142/4
(TOMMO)
- HGVS:
4.
rs1490447862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:41007390
(GRCh38)
9:69080619
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007389:G:A,NC_000009.12:41007389:G:T
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00031/2
(1000Genomes)
- HGVS:
5.
rs1490133363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 9:41031441
(GRCh38)
9:69104670
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41031440:C:A,NC_000009.12:41031440:C:G,NC_000009.12:41031440:C:T
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
G=0.000071/2
(TOMMO)
A=0.000312/2
(1000Genomes)
- HGVS:
6.
rs1489973444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:41007294
(GRCh38)
9:69080523
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007293:A:G
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
7.
rs1488621228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:41053798
(GRCh38)
9:69127027
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41053797:G:T
- Gene:
- PGM5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
8.
rs1488313331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:41047594
(GRCh38)
9:69120823
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41047593:G:A,NC_000009.12:41047593:G:T
- Gene:
- PGM5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00004/1
(TOMMO)
A=0.00055/1
(Korea1K)
- HGVS:
9.
rs1488263716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:41040490
(GRCh38)
9:69113719
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41040489:G:T
- Gene:
- PGM5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
10.
rs1487713015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:41074533
(GRCh38)
9:69147762
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41074532:C:A,NC_000009.12:41074532:C:T
- Gene:
- PGM5P2 (Varview), LOC124902161 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1487106268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:41025788
(GRCh38)
9:69099017
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41025787:T:C
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1486679381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:41007131
(GRCh38)
9:69080360
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007130:G:A
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000506/6
(
ALFA)
A=0.000342/48
(GnomAD)
A=0.000468/3
(1000Genomes)
- HGVS:
13.
rs1486263091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:41039673
(GRCh38)
9:69112902
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41039672:A:G
- Gene:
- PGM5P2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
- HGVS:
14.
rs1485717362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 9:41074245
(GRCh38)
9:69147474
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41074244:G:A,NC_000009.12:41074244:G:T
- Gene:
- PGM5P2 (Varview), LOC124902161 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1484820250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:41007022
(GRCh38)
9:69080251
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007021:A:G
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484696760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 9:41074549
(GRCh38)
9:69147778
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41074548:C:A,NC_000009.12:41074548:C:G,NC_000009.12:41074548:C:T
- Gene:
- PGM5P2 (Varview), LOC124902161 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000468/3
(1000Genomes)
- HGVS:
NC_000009.12:g.41074549C>A, NC_000009.12:g.41074549C>G, NC_000009.12:g.41074549C>T, NC_000009.11:g.69147778C>A, NC_000009.11:g.69147778C>G, NC_000009.11:g.69147778C>T, NR_002836.2:n.77G>T, NR_002836.2:n.77G>C, NR_002836.2:n.77G>A, XR_007061510.1:n.41C>A, XR_007061510.1:n.41C>G, XR_007061510.1:n.41C>T
18.
rs1483834003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:41074587
(GRCh38)
9:69147816
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41074586:C:G,NC_000009.12:41074586:C:T
- Gene:
- PGM5P2 (Varview), LOC124902161 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00028/5
(TOMMO)
T=0.00031/2
(1000Genomes)
G=0.00225/4
(Korea1K)
G=0.00248/7
(KOREAN)
- HGVS:
19.
rs1482287375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 9:41074435
(GRCh38)
9:69147664
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41074434:G:C,NC_000009.12:41074434:G:T
- Gene:
- PGM5P2 (Varview), LOC124902161 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000057/8
(GnomAD)
- HGVS:
20.
rs1481550388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:41007279
(GRCh38)
9:69080508
(GRCh37)
- Canonical SPDI:
- NC_000009.12:41007278:A:C
- Gene:
- PGM5P2 (Varview), FRG1HP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
- HGVS: