Links from Gene
Items: 1 to 20 of 476
1.
rs1487436702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:95063470
(GRCh38)
X:94318469
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063469:C:T
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1487299156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- X:95063836
(GRCh38)
X:94318835
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063835:A:C,NC_000023.11:95063835:A:T
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
3.
rs1485963802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:95064420
(GRCh38)
X:94319419
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95064419:A:G
- Gene:
- MIR548M (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=0.00001/1
(GnomAD)
- HGVS:
6.
rs1485024870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:95064229
(GRCh38)
X:94319228
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95064228:T:C
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1483022723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:95063847
(GRCh38)
X:94318846
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063846:T:C
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
8.
rs1482979018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:95064728
(GRCh38)
X:94319727
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95064727:C:A
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00003/3
(GnomAD)
- HGVS:
9.
rs1481554875 has merged into rs1167990817 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATA>-,TA,TATATA
[Show Flanks]
- Chromosome:
- X:95064550
(GRCh38)
X:94319549
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95064541:TATATATATATA:TATATATA,NC_000023.11:95064541:TATATATATATA:TATATATATA,NC_000023.11:95064541:TATATATATATA:TATATATATATATA
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATA=0./0
(
ALFA)
-=0.000102/27
(TOPMED)
TA=0.00027/3
(TOMMO)
- HGVS:
10.
rs1481163892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:95062884
(GRCh38)
X:94317883
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95062883:A:G
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000038/10
(TOPMED)
- HGVS:
11.
rs1475986533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:95063959
(GRCh38)
X:94318958
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063958:G:A
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000029/3
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
14.
rs1475455827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:95063779
(GRCh38)
X:94318778
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063778:T:G
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1471112331 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:95063559
(GRCh38)
X:94318558
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063558:A:C
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/3
(GnomAD)
- HGVS:
17.
rs1465290043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:95063233
(GRCh38)
X:94318232
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063232:T:C
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
C=0.000018/1
(GnomAD_exomes)
- HGVS:
18.
rs1464342937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- X:95063680
(GRCh38)
X:94318679
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063679:AAA:AA
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000029/3
(GnomAD)
- HGVS:
19.
rs1464044271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:95063593
(GRCh38)
X:94318592
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95063592:A:T
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
20.
rs1462650210 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:95065123
(GRCh38)
X:94320122
(GRCh37)
- Canonical SPDI:
- NC_000023.11:95065122:G:
- Gene:
- MIR548M (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS: