Links from Nucleotide
Items: 1 to 20 of 156
2.
rs1480159393 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 19:36312652
(GRCh38)
19:36803554
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36312649:ATAT:AT
- Gene:
- LOC100134317 (Varview), LINC00665 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
ATAT=0./0
(
ALFA)
-=0.00055/1
(Korea1K)
- HGVS:
3.
rs1480058476 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:36311624
(GRCh38)
19:36802526
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311623:G:A
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
6.
rs1467540955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:36311381
(GRCh38)
19:36802283
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311380:C:G,NC_000019.10:36311380:C:T
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
7.
rs1466415696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 19:36311576
(GRCh38)
19:36802478
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311575:C:A,NC_000019.10:36311575:C:G,NC_000019.10:36311575:C:T
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1463714988 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:36311759
(GRCh38)
19:36802661
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311758:C:T
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00093/11
(
ALFA)
T=0.00069/2
(KOREAN)
- HGVS:
11.
rs1455082178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:36312608
(GRCh38)
19:36803510
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36312607:C:A
- Gene:
- LOC100134317 (Varview), LINC00665 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
13.
rs1451566958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:36311432
(GRCh38)
19:36802334
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311431:G:A
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00008/1
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
14.
rs1449014027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:36311365
(GRCh38)
19:36802267
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311364:G:A
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00007/1
(TOMMO)
A=0.00016/1
(1000Genomes)
- HGVS:
15.
rs1441230770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 19:36311465
(GRCh38)
19:36802367
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311464:A:C,NC_000019.10:36311464:A:G
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000027/3
(GnomAD)
G=0.000036/1
(TOMMO)
- HGVS:
16.
rs1440096262 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CTAACCA
[Show Flanks]
- Chromosome:
- 19:36311452
(GRCh38)
19:36802355
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311452::CTAACCA
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
CTAACCA=0.00153/125
(GnomAD)
CTAACCA=0.01404/8
(NorthernSweden)
- HGVS:
17.
rs1429225869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:36311633
(GRCh38)
19:36802535
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311632:C:G
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1428380141 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 19:36311451
(GRCh38)
19:36802354
(GRCh37)
- Canonical SPDI:
- NC_000019.10:36311451::AG
- Gene:
- LOC100134317 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0.00251/11
(
ALFA)
AG=0.00062/4
(1000Genomes)
AG=0.00144/123
(GnomAD)
AG=0.01347/8
(NorthernSweden)
- HGVS: