Links from Nucleotide
Items: 1 to 20 of 181
1.
rs1488594423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:21303626
(GRCh38)
13:21877765
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303625:C:T
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1483939581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:21344762
(GRCh38)
13:21918901
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21344761:G:A,NC_000013.11:21344761:G:T
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
3.
rs1482414765 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 13:21303527
(GRCh38)
13:21877666
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303526:TTT:TT
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
5.
rs1477575171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:21303616
(GRCh38)
13:21877755
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303615:G:A
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1475200459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:21344727
(GRCh38)
13:21918866
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21344726:T:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1474404029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:21344703
(GRCh38)
13:21918842
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21344702:G:A
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
8.
rs1473162313 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 13:21312337
(GRCh38)
13:21886476
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21312336:G:A,NC_000013.11:21312336:G:C
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1467708165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:21303806
(GRCh38)
13:21877945
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303805:C:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (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:
11.
rs1464148379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 13:21303759
(GRCh38)
13:21877898
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303758:T:C,NC_000013.11:21303758:T:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
12.
rs1456753368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:21312245
(GRCh38)
13:21886384
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21312244:G:A
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000671/3
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1449395499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:21312316
(GRCh38)
13:21886455
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21312315:G:A
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
14.
rs1439069932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:21312273
(GRCh38)
13:21886412
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21312272:G:T
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1433353804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:21303635
(GRCh38)
13:21877774
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303634:C:G,NC_000013.11:21303634:C:T
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1430774472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 13:21344777
(GRCh38)
13:21918916
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21344776:T:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1429499359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:21344766
(GRCh38)
13:21918905
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21344765:C:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1422218576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:21303612
(GRCh38)
13:21877751
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303611:A:G
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
20.
rs1421520559 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 13:21303712
(GRCh38)
13:21877852
(GRCh37)
- Canonical SPDI:
- NC_000013.11:21303712:GG:GGG
- Gene:
- MIPEPP3 (Varview), LINC00539 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS: