Links from Gene
Items: 1 to 20 of 1035
1.
rs1488577430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:53788426
(GRCh38)
19:54291680
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53788425:A:T
- Gene:
- MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488057664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:53787562
(GRCh38)
19:54290816
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787561:G:A
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000049/13
(TOPMED)
- HGVS:
3.
rs1487511363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 19:53787678
(GRCh38)
19:54290932
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787677:G:A,NC_000019.10:53787677:G:T
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
4.
rs1486584215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:53788057
(GRCh38)
19:54291311
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53788056:G:T
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1486391132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53787478
(GRCh38)
19:54290732
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787477:A:G
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486026655 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 19:53786797
(GRCh38)
19:54290051
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53786796:AG:
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
7.
rs1485320155 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 19:53788367
(GRCh38)
19:54291621
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53788366:G:A,NC_000019.10:53788366:G:C,NC_000019.10:53788366:G:T
- Gene:
- MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
8.
rs1485289460 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 19:53788420
(GRCh38)
19:54291674
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53788419:G:
- Gene:
- MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1485186975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:53787214
(GRCh38)
19:54290468
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787213:T:C
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00565/67
(
ALFA)
C=0.00453/74
(TOMMO)
C=0.00479/14
(KOREAN)
C=0.0094/738
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
11.
rs1484097790 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 19:53786891
(GRCh38)
19:54290145
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53786887:GAGAG:GAG
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000015/2
(GnomAD)
- HGVS:
12.
rs1484057172 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTTTT>-
[Show Flanks]
- Chromosome:
- 19:53786079
(GRCh38)
19:54289333
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53786076:TTATTTTT:TT
- Gene:
- MIR371A (Varview), MIR372 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
14.
rs1481806212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 19:53787070
(GRCh38)
19:54290324
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787069:T:A
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
15.
rs1481131237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:53787932
(GRCh38)
19:54291186
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787931:A:G
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1480794990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:53787686
(GRCh38)
19:54290940
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787685:A:C
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1480603569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:53786942
(GRCh38)
19:54290196
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53786941:C:T
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1480369675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:53788007
(GRCh38)
19:54291261
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53788006:C:G
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1476290583 has merged into rs376274287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:53787225
(GRCh38)
19:54290479
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53787212:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), MIR371B (Varview), LOC124904767 (Varview)
- Functional Consequence:
- downstream_transcript_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0667/257
(ALSPAC)
-=0.275/1377
(1000Genomes)
- HGVS:
NC_000019.10:g.53787225_53787230del, NC_000019.10:g.53787226_53787230del, NC_000019.10:g.53787227_53787230del, NC_000019.10:g.53787228_53787230del, NC_000019.10:g.53787229_53787230del, NC_000019.10:g.53787230del, NC_000019.10:g.53787230dup, NC_000019.10:g.53787229_53787230dup, NC_000019.10:g.53787228_53787230dup, NC_000019.10:g.53787227_53787230dup, NC_000019.10:g.53787224_53787230dup, NC_000019.9:g.54290479_54290484del, NC_000019.9:g.54290480_54290484del, NC_000019.9:g.54290481_54290484del, NC_000019.9:g.54290482_54290484del, NC_000019.9:g.54290483_54290484del, NC_000019.9:g.54290484del, NC_000019.9:g.54290484dup, NC_000019.9:g.54290483_54290484dup, NC_000019.9:g.54290482_54290484dup, NC_000019.9:g.54290481_54290484dup, NC_000019.9:g.54290478_54290484dup, XR_007067336.1:n.881_886del, XR_007067336.1:n.882_886del, XR_007067336.1:n.883_886del, XR_007067336.1:n.884_886del, XR_007067336.1:n.885_886del, XR_007067336.1:n.886del, XR_007067336.1:n.886dup, XR_007067336.1:n.885_886dup, XR_007067336.1:n.884_886dup, XR_007067336.1:n.883_886dup, XR_007067336.1:n.880_886dup
20.
rs1475946743 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 19:53787061
(GRCh38)
19:54290315
(GRCh37)
- Canonical SPDI:
- NC_000019.10:53787060:T:A,NC_000019.10:53787060:T:G
- Gene:
- MIR371A (Varview), MIR372 (Varview), MIR373 (Varview), LOC124904767 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS: