Links from Gene
Items: 1 to 20 of 716
1.
rs1490237953 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCAT>-
[Show Flanks]
- Chromosome:
- 19:53710924
(GRCh38)
19:54214178
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53710921:ATGCAT:AT
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AT=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1489729252 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GA
[Show Flanks]
- Chromosome:
- 19:53711479
(GRCh38)
19:54214734
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53711479:A:AGA
- Gene:
- MIR524 (Varview), MIR517A (Varview), MIR519D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGA=0.000071/1
(
ALFA)
AG=0.000011/3
(TOPMED)
AG=0.000021/3
(GnomAD)
- HGVS:
3.
rs1489432881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53709507
(GRCh38)
19:54212761
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709506:C:T
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1484128868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:53710415
(GRCh38)
19:54213669
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53710414:T:A
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1482919022 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:53710711
(GRCh38)
19:54213965
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53710710:T:C
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1482766972 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:53709938
(GRCh38)
19:54213192
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709937:C:G
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1482492173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:53709589
(GRCh38)
19:54212843
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709588:T:G
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1482014852 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:53709407
(GRCh38)
19:54212661
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709406:G:A
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000447/2
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
9.
rs1481949818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:53710543
(GRCh38)
19:54213797
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53710542:T:C
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1481234001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:53709728
(GRCh38)
19:54212982
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709727:G:A
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
12.
rs1480004059 has merged into rs199889445 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCT>-,CT
[Show Flanks]
- Chromosome:
- 19:53711289
(GRCh38)
19:54214543
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53711285:TCTCTCT:TCT,NC_000019.10:53711285:TCTCTCT:TCTCT
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCT=0.00397/72
(
ALFA)
-=0.00578/29
(1000Genomes)
-=0.00667/4
(NorthernSweden)
-=0.01629/73
(Estonian)
-=0.01672/62
(TWINSUK)
-=0.01946/75
(ALSPAC)
-=0.02806/28
(GoNL)
- HGVS:
14.
rs1476570537 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 19:53709158
(GRCh38)
19:54212412
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709157:G:A,NC_000019.10:53709157:G:C,NC_000019.10:53709157:G:T
- Gene:
- MIR518C (Varview), MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00011/2
(TOMMO)
- HGVS:
16.
rs1473222003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53709977
(GRCh38)
19:54213231
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709976:A:G
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
17.
rs1473121032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53709437
(GRCh38)
19:54212691
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709436:A:G
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1471218993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53709447
(GRCh38)
19:54212701
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53709446:C:T
- Gene:
- MIR524 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1470630138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:53710693
(GRCh38)
19:54213947
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53710692:C:A,NC_000019.10:53710692:C:T
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000318/5
(TOMMO)
- HGVS:
20.
rs1467702942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:53711160
(GRCh38)
19:54214414
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53711159:A:T
- Gene:
- MIR524 (Varview), MIR517A (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000637/11
(TOMMO)
- HGVS: