Links from Gene
Items: 1 to 20 of 11335
1.
rs1491563690 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 18:5785006
(GRCh38)
18:5785005
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5785005:TA:
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491453045 has merged into rs34727160 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 18:5783068
(GRCh38)
18:5783067
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:5783057:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000018.10:g.5783068_5783072del, NC_000018.10:g.5783069_5783072del, NC_000018.10:g.5783070_5783072del, NC_000018.10:g.5783071_5783072del, NC_000018.10:g.5783072del, NC_000018.10:g.5783072dup, NC_000018.10:g.5783071_5783072dup, NC_000018.9:g.5783067_5783071del, NC_000018.9:g.5783068_5783071del, NC_000018.9:g.5783069_5783071del, NC_000018.9:g.5783070_5783071del, NC_000018.9:g.5783071del, NC_000018.9:g.5783071dup, NC_000018.9:g.5783070_5783071dup
3.
rs1491412488 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 18:5748263
(GRCh38)
18:5748263
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5748263::G
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00004/2
(GnomAD)
- HGVS:
4.
rs1491156020 has merged into rs370345891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 18:5785016
(GRCh38)
18:5785015
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:5785006:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000079/21
(TOPMED)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000018.10:g.5785016_5785023del, NC_000018.10:g.5785018_5785023del, NC_000018.10:g.5785019_5785023del, NC_000018.10:g.5785020_5785023del, NC_000018.10:g.5785021_5785023del, NC_000018.10:g.5785022_5785023del, NC_000018.10:g.5785023del, NC_000018.10:g.5785023dup, NC_000018.10:g.5785022_5785023dup, NC_000018.10:g.5785021_5785023dup, NC_000018.10:g.5785020_5785023dup, NC_000018.10:g.5785019_5785023dup, NC_000018.10:g.5785017_5785023dup, NC_000018.10:g.5785016_5785023dup, NC_000018.10:g.5785015_5785023dup, NC_000018.10:g.5785014_5785023dup, NC_000018.10:g.5785013_5785023dup, NC_000018.10:g.5785012_5785023dup, NC_000018.10:g.5785011_5785023dup, NC_000018.10:g.5785007_5785023dup, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAA, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.5785023_5785024insAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785015_5785022del, NC_000018.9:g.5785017_5785022del, NC_000018.9:g.5785018_5785022del, NC_000018.9:g.5785019_5785022del, NC_000018.9:g.5785020_5785022del, NC_000018.9:g.5785021_5785022del, NC_000018.9:g.5785022del, NC_000018.9:g.5785022dup, NC_000018.9:g.5785021_5785022dup, NC_000018.9:g.5785020_5785022dup, NC_000018.9:g.5785019_5785022dup, NC_000018.9:g.5785018_5785022dup, NC_000018.9:g.5785016_5785022dup, NC_000018.9:g.5785015_5785022dup, NC_000018.9:g.5785014_5785022dup, NC_000018.9:g.5785013_5785022dup, NC_000018.9:g.5785012_5785022dup, NC_000018.9:g.5785011_5785022dup, NC_000018.9:g.5785010_5785022dup, NC_000018.9:g.5785006_5785022dup, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.5785022_5785023insAAAAAAAAAAAAAAAAAAAAA
5.
rs1491077170 has merged into rs557155872 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 18:5788699
(GRCh38)
18:5788698
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:5788685:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.12667/76
(NorthernSweden)
-=0.375/15
(GENOME_DK)
- HGVS:
NC_000018.10:g.5788699_5788702del, NC_000018.10:g.5788700_5788702del, NC_000018.10:g.5788701_5788702del, NC_000018.10:g.5788702del, NC_000018.10:g.5788702dup, NC_000018.10:g.5788701_5788702dup, NC_000018.10:g.5788698_5788702dup, NC_000018.10:g.5788693_5788702dup, NC_000018.9:g.5788698_5788701del, NC_000018.9:g.5788699_5788701del, NC_000018.9:g.5788700_5788701del, NC_000018.9:g.5788701del, NC_000018.9:g.5788701dup, NC_000018.9:g.5788700_5788701dup, NC_000018.9:g.5788697_5788701dup, NC_000018.9:g.5788692_5788701dup
6.
rs1490954407 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:5749463
(GRCh38)
18:5749462
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5749462:C:G
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490948511 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GACTATATATAT>-
[Show Flanks]
- Chromosome:
- 18:5779370
(GRCh38)
18:5779369
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5779350:TATATATGACTATATATATGACTATATATAT:TATATATGACTATATATAT
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATGACTATATATAT=0.00059/7
(
ALFA)
-=0.000774/107
(GnomAD)
-=0.000869/230
(TOPMED)
- HGVS:
9.
rs1490870110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 18:5765285
(GRCh38)
18:5765284
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5765284:G:A
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490803287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 18:5778904
(GRCh38)
18:5778904
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5778904:C:CC
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490772777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:5779714
(GRCh38)
18:5779713
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5779713:C:G
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490749410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:5795504
(GRCh38)
18:5795503
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5795503:T:C
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490634055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:5771716
(GRCh38)
18:5771715
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5771715:T:C
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490609889 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 18:5757988
(GRCh38)
18:5757987
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5757987:AG:
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
16.
rs1490549697 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:5787674
(GRCh38)
18:5787673
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5787673:T:C
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490529030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:5795197
(GRCh38)
18:5795196
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5795196:A:G
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490378845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 18:5765723
(GRCh38)
18:5765722
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5765720:AGGAG:AG
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1490225100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:5761030
(GRCh38)
18:5761029
(GRCh37)
- Canonical SPDI:
- NC_000018.10:5761029:A:G
- Gene:
- MIR3976HG (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000066/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
A=0.5/1
(SGDP_PRJ)
- HGVS: