Links from Nucleotide
Items: 1 to 20 of 48
1.
rs1486855557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 4:66276875
(GRCh38)
4:67142593
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276874:C:A
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000008/2
(GnomAD_exomes)
- HGVS:
2.
rs1474761548 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GTCAGA
[Show Flanks]
- Chromosome:
- 4:66276888
(GRCh38)
4:67142607
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276888::GTCAGA
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GTCAGA=0.000668/6
(
ALFA)
GTCAGA=0.000016/4
(GnomAD_exomes)
- HGVS:
3.
rs1445179204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:66276880
(GRCh38)
4:67142598
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276879:T:C,NC_000004.12:66276879:T:G
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
G=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1444997952 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:66276915
(GRCh38)
4:67142633
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276914:C:T
- Gene:
- MIR1269A (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)
T=0.003821/7
(Korea1K)
- HGVS:
5.
rs1418370599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:66276845
(GRCh38)
4:67142563
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276844:G:A
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(GnomAD_exomes)
A=0.000034/9
(TOPMED)
A=0.0001/14
(GnomAD)
- HGVS:
6.
rs1418092109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:66276873
(GRCh38)
4:67142591
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276872:G:A
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
7.
rs1414703769 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:66276872
(GRCh38)
4:67142590
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276871:TG:
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000008/2
(TOPMED)
- HGVS:
8.
rs1390772650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:66276887
(GRCh38)
4:67142605
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276886:T:A
- Gene:
- MIR1269A (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:
9.
rs1382314490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:66276854
(GRCh38)
4:67142572
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276853:C:G,NC_000004.12:66276853:C:T
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
G=0.002654/75
(TOMMO)
- HGVS:
10.
rs1372442427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:66276830
(GRCh38)
4:67142548
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276829:G:T
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1365171559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:66276890
(GRCh38)
4:67142608
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276889:C:T
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000668/6
(
ALFA)
T=0.000016/4
(GnomAD_exomes)
- HGVS:
13.
rs1338785575 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:66276840
(GRCh38)
4:67142558
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276839:G:A
- Gene:
- MIR1269A (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:
14.
rs1323520646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:66276852
(GRCh38)
4:67142570
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276851:G:A
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1280668983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:66276879
(GRCh38)
4:67142597
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276878:C:T
- Gene:
- MIR1269A (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:
18.
rs1257919101 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 4:66276885
(GRCh38)
4:67142603
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276884:AA:
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000668/6
(
ALFA)
-=0.00002/5
(GnomAD_exomes)
- HGVS:
19.
rs1232855849 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TCTGAC>-
[Show Flanks]
- Chromosome:
- 4:66276870
(GRCh38)
4:67142588
(GRCh37)
- Canonical SPDI:
- NC_000004.12:66276869:TCTGAC:
- Gene:
- MIR1269A (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000668/6
(
ALFA)
-=0.000024/6
(GnomAD_exomes)
- HGVS: