Links from Gene
Items: 1 to 20 of 529
2.
rs1488677045 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21036062
(GRCh38)
22:21390351
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21036061:C:T
- Gene:
- MIR649 (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=0.000007/1
(GnomAD)
- HGVS:
3.
rs1485767545 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 22:21034697
(GRCh38)
22:21388987
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034697:AAAAAAA:AAAAAAAA
- Gene:
- MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
4.
rs1485747304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:21034531
(GRCh38)
22:21388820
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034530:G:A
- Gene:
- SLC7A4 (Varview), MIR649 (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:
5.
rs1485379773 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGATACA>-
[Show Flanks]
- Chromosome:
- 22:21036185
(GRCh38)
22:21390474
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21036183:AGTGATACA:A
- Gene:
- MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
6.
rs1483283844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:21035752
(GRCh38)
22:21390041
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21035751:T:G
- Gene:
- MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
7.
rs1482166405 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:21034218
(GRCh38)
22:21388507
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034217:T:C
- Gene:
- SLC7A4 (Varview), MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
10.
rs1478625583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:21035723
(GRCh38)
22:21390012
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21035722:A:G
- Gene:
- MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1476811714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21033864
(GRCh38)
22:21388153
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21033863:C:T
- Gene:
- SLC7A4 (Varview), MIR649 (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=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1475628429 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 22:21035241
(GRCh38)
22:21389530
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21035240:C:
- Gene:
- MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1474764976 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 22:21034171
(GRCh38)
22:21388460
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034170:A:C
- Gene:
- SLC7A4 (Varview), MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1474754165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 22:21035318
(GRCh38)
22:21389607
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21035317:T:G
- Gene:
- MIR649 (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:
15.
rs1474288895 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:21034286
(GRCh38)
22:21388575
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034285:C:A,NC_000022.11:21034285:C:T
- Gene:
- SLC7A4 (Varview), MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
16.
rs1472000225 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 22:21034164
(GRCh38)
22:21388454
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034164:G:GG
- Gene:
- SLC7A4 (Varview), MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1469723492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:21033771
(GRCh38)
22:21388060
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21033770:G:T
- Gene:
- SLC7A4 (Varview), MIR649 (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=0.000008/2
(TOPMED)
- HGVS:
18.
rs1469519891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:21035576
(GRCh38)
22:21389865
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21035575:C:T
- Gene:
- MIR649 (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=0.000007/1
(GnomAD)
- HGVS:
20.
rs1463402020 has merged into rs1278308922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 22:21034862
(GRCh38)
22:21389151
(GRCh37)
- Canonical SPDI:
- NC_000022.11:21034861:AAAAAAAAAA:AAAAAAAAA,NC_000022.11:21034861:AAAAAAAAAA:AAAAAAAAAAA
- Gene:
- MIR649 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.000271/5
(
ALFA)
-=0.000354/6
(TOMMO)
-=0.001447/383
(TOPMED)
-=0.005459/10
(Korea1K)
- HGVS: