Links from Nucleotide
Items: 1 to 20 of 605
1.
rs1486854112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:194760453
(GRCh38)
2:195625177
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194760452:A:G
- Gene:
- LINC01790 (Varview), LOC105376755 (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=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
2.
rs1486818351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:194761246
(GRCh38)
2:195625970
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194761245:A:C
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1484935772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:194730615
(GRCh38)
2:195595339
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194730614:T:C
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1481938220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:194760095
(GRCh38)
2:195624819
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194760094:T:C
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
6.
rs1481812566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:194759588
(GRCh38)
2:195624312
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194759587:G:C
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_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:
7.
rs1479822202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:194736245
(GRCh38)
2:195600969
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194736244:C:G,NC_000002.12:194736244:C:T
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1479345029 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 2:194730650
(GRCh38)
2:195595374
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194730649:CCC:CC
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0.000071/1
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
9.
rs1476010095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:194744585
(GRCh38)
2:195609309
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194744584:C:T
- Gene:
- LINC01790 (Varview), LOC105376755 (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=0.000042/11
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
10.
rs1475772007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:194761075
(GRCh38)
2:195625799
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194761074:T:C
- Gene:
- LINC01790 (Varview), LOC105376755 (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:
11.
rs1475410701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:194760982
(GRCh38)
2:195625706
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194760981:A:G
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
12.
rs1472313998 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:194760304
(GRCh38)
2:195625028
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194760303:TT:
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
13.
rs1471613678 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTG
[Show Flanks]
- Chromosome:
- 2:194759184
(GRCh38)
2:195623909
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194759184:GTGAGTG:GTGAGTGAGTG
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGAGTGAGTG=0.000071/1
(
ALFA)
GTGA=0.000007/1
(GnomAD)
GTGA=0.000015/4
(TOPMED)
- HGVS:
14.
rs1471000176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:194761213
(GRCh38)
2:195625937
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194761212:A:G
- Gene:
- LINC01790 (Varview), LOC105376755 (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=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1470212613 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:194759835
(GRCh38)
2:195624559
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194759834:T:C
- Gene:
- LINC01790 (Varview), LOC105376755 (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=0.000342/1
(KOREAN)
- HGVS:
16.
rs1467721568 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:194759178
(GRCh38)
2:195623902
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194759177:G:C
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1466666726 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:194761194
(GRCh38)
2:195625918
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194761193:T:A
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1466229811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:194759310
(GRCh38)
2:195624034
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194759309:C:T
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1464997165 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AACATTTAGCAGTT
[Show Flanks]
- Chromosome:
- 2:194760064
(GRCh38)
2:195624789
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194760064:TTAACATTTAGCAGTT:TTAACATTTAGCAGTTAACATTTAGCAGTT
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAACATTTAGCAGTTAACATTTAGCAGTT=0.000169/2
(
ALFA)
TTAACATTTAGCAG=0.000007/1
(GnomAD)
TTAACATTTAGCAG=0.000283/5
(TOMMO)
TTAACATTTAGCAG=0.000468/3
(1000Genomes)
TTAACATTTAGCAG=0.004367/8
(Korea1K)
TTAACATTTAGCAG=0.00463/1
(Vietnamese)
- HGVS:
20.
rs1464469283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:194759637
(GRCh38)
2:195624361
(GRCh37)
- Canonical SPDI:
- NC_000002.12:194759636:G:A,NC_000002.12:194759636:G:T
- Gene:
- LINC01790 (Varview), LOC105376755 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS: