Links from Gene
Items: 1 to 20 of 742
1.
rs1490410162 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:101026260
(GRCh38)
14:101492597
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101026259:CC:C
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1487184015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101023888
(GRCh38)
14:101490225
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101023887:G:A
- Gene:
- MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1485478082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:101024341
(GRCh38)
14:101490678
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101024340:G:T
- Gene:
- MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
- HGVS:
4.
rs1485470803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101025254
(GRCh38)
14:101491591
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025253:C:A
- Gene:
- MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- HGVS:
5.
rs1485190428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101024136
(GRCh38)
14:101490473
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101024135:G:A
- Gene:
- MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
6.
rs1484498815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:101025475
(GRCh38)
14:101491812
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025474:A:G
- Gene:
- MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1483583954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 14:101026041
(GRCh38)
14:101492378
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101026040:G:C,NC_000014.9:101026040:G:T
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
8.
rs1482989653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:101025961
(GRCh38)
14:101492298
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025960:C:T
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_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:
9.
rs1480802632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:101025659
(GRCh38)
14:101491996
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025658:C:T
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_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.
rs1480473088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101025402
(GRCh38)
14:101491739
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025401:G:A
- Gene:
- MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1478216485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101026207
(GRCh38)
14:101492544
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101026206:G:A
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
12.
rs1476929501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:101025119
(GRCh38)
14:101491456
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025118:G:A,NC_000014.9:101025118:G:C
- Gene:
- MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1474879351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:101025888
(GRCh38)
14:101492225
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025887:G:A
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.00004/1
(TOMMO)
- HGVS:
14.
rs1474776374 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:101024231
(GRCh38)
14:101490568
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101024230:G:C
- Gene:
- MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1474725833 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:101025150
(GRCh38)
14:101491487
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025149:C:A
- Gene:
- MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
16.
rs1473963455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:101025235
(GRCh38)
14:101491572
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025234:C:T
- Gene:
- MIR323A (Varview), MIR380 (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1472434887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:101026311
(GRCh38)
14:101492648
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101026310:G:T
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1471455702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:101025945
(GRCh38)
14:101492282
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101025944:A:T
- Gene:
- MIR323A (Varview), MIR329-1 (Varview), MIR329-2 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1470831445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:101023752
(GRCh38)
14:101490089
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101023751:A:G
- Gene:
- MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR411 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1469370993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:101024043
(GRCh38)
14:101490380
(GRCh37)
- Canonical SPDI:
- NC_000014.9:101024042:C:T
- Gene:
- MIR299 (Varview), MIR323A (Varview), MIR380 (Varview), MIR758 (Varview), MIR1197 (Varview), LOC124903407 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS: