Links from Nucleotide
Items: 1 to 20 of 438
1.
rs1486999092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:112272915
(GRCh38)
13:112927229
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272914:C:T
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1484703458 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:112256752
(GRCh38)
13:112911066
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112256751:G:T
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00033/5
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000893/4
(Estonian)
- HGVS:
3.
rs1484472302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 13:112259784
(GRCh38)
13:112914098
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112259783:G:A,NC_000013.11:112259783:G:T
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1481414462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:112262294
(GRCh38)
13:112916608
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112262293:A:G
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1476682878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:112272990
(GRCh38)
13:112927304
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272989:C:A
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1475671937 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:112272485
(GRCh38)
13:112926799
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272484:G:A
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1472694864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:112262218
(GRCh38)
13:112916532
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112262217:C:G
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- 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:
8.
rs1470861096 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:112257153
(GRCh38)
13:112911467
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112257152:G:T
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
9.
rs1469326348 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:112272793
(GRCh38)
13:112927107
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272792:A:G
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1468186338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:112259731
(GRCh38)
13:112914045
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112259730:G:T
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1467449935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 13:112259723
(GRCh38)
13:112914037
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112259722:C:A
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_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:
12.
rs1461388168 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GTC>-
[Show Flanks]
- Chromosome:
- 13:112272339
(GRCh38)
13:112926653
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272338:GTC:
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
13.
rs1460349825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:112272504
(GRCh38)
13:112926818
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272503:C:G,NC_000013.11:112272503:C:T
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0./0
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1457822512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:112271501
(GRCh38)
13:112925815
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112271500:C:T
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1457262032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:112262289
(GRCh38)
13:112916603
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112262288:C:T
- Gene:
- LOC101928730 (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=0.000007/1
(GnomAD)
- HGVS:
16.
rs1455474920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:112272366
(GRCh38)
13:112926680
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272365:C:G
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1454984467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:112272771
(GRCh38)
13:112927085
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272770:A:C
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1453649971 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:112272948
(GRCh38)
13:112927262
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112272947:G:T
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
19.
rs1452389366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:112271525
(GRCh38)
13:112925839
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112271524:G:T
- Gene:
- LOC101928730 (Varview), LOC107984555 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1451313528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:112262977
(GRCh38)
13:112917291
(GRCh37)
- Canonical SPDI:
- NC_000013.11:112262976:G:A
- Gene:
- LOC101928730 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS: