Links from Nucleotide
Items: 1 to 20 of 31
1.
rs1482775835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198858931
(GRCh38)
1:198828060
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858930:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
2.
rs1461615722 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:198858971
(GRCh38)
1:198828100
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858970:T:
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1454997515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:198858877
(GRCh38)
1:198828006
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858876:G:A,NC_000001.11:198858876:G:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1421493211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198858956
(GRCh38)
1:198828085
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858955:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000047/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1395115094 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 1:198858902
(GRCh38)
1:198828031
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858901:A:C,NC_000001.11:198858901:A:G,NC_000001.11:198858901:A:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1385750980 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:198858937
(GRCh38)
1:198828066
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858936:C:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1378854545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:198858899
(GRCh38)
1:198828028
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858898:T:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1337812156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:198858897
(GRCh38)
1:198828026
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858896:T:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
12.
rs1310108538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:198858903
(GRCh38)
1:198828032
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858902:G:A
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1276677169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:198858892
(GRCh38)
1:198828021
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858891:T:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1264082334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:198858938
(GRCh38)
1:198828067
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858937:A:C
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1256400288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:198858930
(GRCh38)
1:198828059
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858929:C:A
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1205413123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:198858926
(GRCh38)
1:198828055
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858925:C:A
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1170643583 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:198858875
(GRCh38)
1:198828004
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858874:G:
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000012/3
(GnomAD_exomes)
-=0.000014/2
(GnomAD)
- HGVS:
19.
rs994481617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:198858880
(GRCh38)
1:198828009
(GRCh37)
- Canonical SPDI:
- NC_000001.11:198858879:G:T
- Gene:
- MIR181B1 (Varview), MIR181A1 (Varview), MIR181A1HG (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: