Links from Nucleotide
Items: 1 to 20 of 180
1.
rs1490669645 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:80178125
(GRCh38)
18:77936008
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178124:G:A
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1486852241 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 18:80148019
(GRCh38)
18:77905903
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80148019:AAA:AAAA
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1484243108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80178366
(GRCh38)
18:77936249
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178365:C:T
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
4.
rs1481239227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:80178217
(GRCh38)
18:77936100
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178216:A:C
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1480955824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:80178364
(GRCh38)
18:77936247
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178363:A:G
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
G=0.000057/8
(GnomAD)
- HGVS:
6.
rs1478335729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80148124
(GRCh38)
18:77906007
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80148123:C:T
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.00011/2
(GnomAD_exomes)
- HGVS:
7.
rs1478289141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80147934
(GRCh38)
18:77905817
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80147933:C:T
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.00046/8
(TOMMO)
- HGVS:
8.
rs1477433673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:80175918
(GRCh38)
18:77933801
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80175917:G:C
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1470665055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:80178333
(GRCh38)
18:77936216
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178332:G:A
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1470474649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:80147930
(GRCh38)
18:77905813
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80147929:A:C
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1463963294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:80178353
(GRCh38)
18:77936236
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178352:G:A
- Gene:
- PARD6G (Varview), PARD6G-AS1 (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=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1459285155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:80148138
(GRCh38)
18:77906021
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80148137:G:A
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1458672372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:80148135
(GRCh38)
18:77906018
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80148134:C:T
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1455965272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 18:80178404
(GRCh38)
18:77936287
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178403:C:A
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1450750802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 18:80148079
(GRCh38)
18:77905962
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80148078:G:T
- Gene:
- PARD6G-AS1 (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=0.000011/3
(TOPMED)
- HGVS:
17.
rs1441498957 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 18:80148212
(GRCh38)
18:77906095
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80148211:T:A
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1432996875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:80178344
(GRCh38)
18:77936227
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80178343:G:A
- Gene:
- PARD6G (Varview), PARD6G-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.002831/47
(TOMMO)
- HGVS:
19.
rs1429145902 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:80147991
(GRCh38)
18:77905874
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80147990:T:C
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0./0
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
20.
rs1428866543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:80147928
(GRCh38)
18:77905811
(GRCh37)
- Canonical SPDI:
- NC_000018.10:80147927:C:G
- Gene:
- PARD6G-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS: