Links from Nucleotide
Items: 1 to 20 of 207
1.
rs1484183078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:73787493
(GRCh38)
14:74254196
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73787492:C:A,NC_000014.9:73787492:C:G
- Gene:
- MIDEAS (Varview), MIDEAS-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
2.
rs1480616758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:73803447
(GRCh38)
14:74270150
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803446:C:G,NC_000014.9:73803446:C:T
- Gene:
- MIDEAS-AS1 (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)
T=0.000248/4
(TOMMO)
- HGVS:
3.
rs1474440810 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:73803086
(GRCh38)
14:74269789
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803085:A:G
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000029/4
(GnomAD)
G=0.000342/1
(KOREAN)
G=0.004762/1
(Vietnamese)
- HGVS:
4.
rs1463211260 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:73789062
(GRCh38)
14:74255765
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73789061:G:A
- Gene:
- MIDEAS (Varview), MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1460129498 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:73803329
(GRCh38)
14:74270032
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803328:G:A,NC_000014.9:73803328:G:T
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1452994436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:73802938
(GRCh38)
14:74269641
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73802937:T:C
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1452182356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:73803094
(GRCh38)
14:74269797
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803093:T:C,NC_000014.9:73803093:T:G
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
8.
rs1449139110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:73803437
(GRCh38)
14:74270140
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803436:C:G
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1448873837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:73803278
(GRCh38)
14:74269981
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803277:T:C
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1448673572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:73802907
(GRCh38)
14:74269610
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73802906:A:T
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1441480140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:73787407
(GRCh38)
14:74254110
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73787406:C:A
- Gene:
- MIDEAS (Varview), MIDEAS-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1436370269 has merged into rs979198997 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGC>-,AGCAGCAGC
[Show Flanks]
- Chromosome:
- 14:73802963
(GRCh38)
14:74269666
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73802950:AGCAGCAGCAGCAGC:AGCAGCAGCAGC,NC_000014.9:73802950:AGCAGCAGCAGCAGC:AGCAGCAGCAGCAGCAGCAGC
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGCAGCAGCAGCAGCAGCAGC=0./0
(
ALFA)
- HGVS:
14.
rs1435673615 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACATTGA
[Show Flanks]
- Chromosome:
- 14:73803116
(GRCh38)
14:74269820
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803116:A:AACATTGA
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AACATTGA=0./0
(
ALFA)
AACATTG=0.000008/2
(TOPMED)
AACATTG=0.000014/2
(GnomAD)
- HGVS:
15.
rs1429661954 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACAAAAAT>-
[Show Flanks]
- Chromosome:
- 14:73803454
(GRCh38)
14:74270157
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803446:CAAAAATACAAAAAT:CAAAAAT
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAAAAAT=0./0
(
ALFA)
-=0.000022/3
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
16.
rs1427976696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:73803222
(GRCh38)
14:74269925
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803221:C:G
- Gene:
- MIDEAS-AS1 (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:
17.
rs1427645329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 14:73803150
(GRCh38)
14:74269853
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803149:A:C,NC_000014.9:73803149:A:G
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
- HGVS:
19.
rs1420109945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:73803105
(GRCh38)
14:74269808
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73803104:G:A,NC_000014.9:73803104:G:C
- Gene:
- MIDEAS-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
20.
rs1417659605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:73789090
(GRCh38)
14:74255793
(GRCh37)
- Canonical SPDI:
- NC_000014.9:73789089:CCCCC:CCCC
- Gene:
- MIDEAS (Varview), MIDEAS-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCC=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: