Links from Nucleotide
Items: 1 to 20 of 531
1.
rs1490869736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:120970136
(GRCh38)
12:121407939
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970135:A:G
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1485771761 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:120970521
(GRCh38)
12:121408324
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970520:G:A
- Gene:
- HNF1A-AS1 (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=0.000014/2
(GnomAD)
- HGVS:
4.
rs1485539144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:120972125
(GRCh38)
12:121409928
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120972124:T:C
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1482821472 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:120971687
(GRCh38)
12:121409490
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120971686:G:T
- Gene:
- HNF1A-AS1 (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:
6.
rs1482466051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:120971411
(GRCh38)
12:121409214
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120971410:C:A,NC_000012.12:120971410:C:G
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
7.
rs1482204935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:120970688
(GRCh38)
12:121408491
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970687:G:T
- Gene:
- HNF1A-AS1 (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:
8.
rs1481048893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:120970817
(GRCh38)
12:121408620
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970816:T:G
- Gene:
- HNF1A-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)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1477507814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:120970437
(GRCh38)
12:121408240
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970436:C:T
- Gene:
- HNF1A-AS1 (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:
10.
rs1477456188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 12:120971399
(GRCh38)
12:121409202
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120971398:G:A,NC_000012.12:120971398:G:T
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1474143412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:120971681
(GRCh38)
12:121409484
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120971680:A:G
- Gene:
- HNF1A-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=0.000156/1
(1000Genomes)
- HGVS:
12.
rs1473821894 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:120970423
(GRCh38)
12:121408226
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970422:T:C
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- 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:
13.
rs1473430919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 12:120970242
(GRCh38)
12:121408045
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970241:C:A,NC_000012.12:120970241:C:G
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
G=0.000106/2
(TOMMO)
- HGVS:
16.
rs1472237005 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:120969842
(GRCh38)
12:121407645
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120969841:C:T
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00008/1
(
ALFA)
T=0.00004/1
(TOMMO)
T=0.00014/10
(GnomAD)
- HGVS:
17.
rs1471951487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:120971179
(GRCh38)
12:121408982
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120971178:C:G
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
19.
rs1465836941 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:120970559
(GRCh38)
12:121408362
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120970558:G:A
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1463331938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:120972067
(GRCh38)
12:121409870
(GRCh37)
- Canonical SPDI:
- NC_000012.12:120972066:T:C
- Gene:
- HNF1A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS: