Links from Gene
Items: 1 to 20 of 415
1.
rs1490888704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:84227580
(GRCh38)
X:83482588
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84227579:G:A
- Gene:
- MIR548I4 (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=0.00001/1
(GnomAD)
- HGVS:
2.
rs1490404543 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:84226975
(GRCh38)
X:83481983
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226974:G:A
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.001027/3
(KOREAN)
- HGVS:
3.
rs1489238075 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:84227414
(GRCh38)
X:83482423
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84227414:TT:TTT
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
4.
rs1487712676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:84226797
(GRCh38)
X:83481805
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226796:T:C
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
5.
rs1486885352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:84225787
(GRCh38)
X:83480795
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84225786:T:C
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000447/2
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
6.
rs1486561806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:84226982
(GRCh38)
X:83481990
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226981:G:T
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
7.
rs1485760674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:84225437
(GRCh38)
X:83480445
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84225436:C:T
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
9.
rs1483079572 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:84226520
(GRCh38)
X:83481528
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226519:T:C
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
10.
rs1482733588 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:84227790
(GRCh38)
X:83482798
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84227789:GG:G
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
11.
rs1482544482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:84226289
(GRCh38)
X:83481297
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226288:T:C
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
12.
rs1482208343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:84227100
(GRCh38)
X:83482108
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84227099:T:C
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
13.
rs1481864221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:84226602
(GRCh38)
X:83481610
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226601:A:G
- Gene:
- MIR548I4 (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:
14.
rs1481299861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:84227693
(GRCh38)
X:83482701
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84227692:C:A
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
C=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1478737545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:84227128
(GRCh38)
X:83482136
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84227127:C:A
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
17.
rs1470461194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:84226149
(GRCh38)
X:83481157
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226148:T:C
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1463812389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:84226615
(GRCh38)
X:83481623
(GRCh37)
- Canonical SPDI:
- NC_000023.11:84226614:C:T
- Gene:
- MIR548I4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000045/1
(TOMMO)
- HGVS: