SNP Links for Gene (Select 100126319) - SNP

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Select item 14877053021.

rs1487705302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:56001540 (GRCh38)
2:56228675 (GRCh37)
Canonical SPDI:: NC_000002.12:56001539:T:G
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.56001540T>G, NC_000002.11:g.56228675T>G

Select item 14873116692.

rs1487311669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56001808 (GRCh38)
2:56228943 (GRCh37)
Canonical SPDI:: NC_000002.12:56001807:T:C
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56001808T>C, NC_000002.11:g.56228943T>C

Select item 14865869903.

rs1486586990 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:56000909 (GRCh38)
2:56228044 (GRCh37)
Canonical SPDI:: NC_000002.12:56000908:A:G
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56000909A>G, NC_000002.11:g.56228044A>G

Select item 14842657154.

rs1484265715 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:56001656 (GRCh38)
2:56228791 (GRCh37)
Canonical SPDI:: NC_000002.12:56001655:G:A
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56001656G>A, NC_000002.11:g.56228791G>A

Select item 14830603255.

rs1483060325 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:56002703 (GRCh38)
2:56229838 (GRCh37)
Canonical SPDI:: NC_000002.12:56002702:A:G
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.56002703A>G, NC_000002.11:g.56229838A>G

Select item 14820758736.

rs1482075873 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:56002143 (GRCh38)
2:56229278 (GRCh37)
Canonical SPDI:: NC_000002.12:56002142:T:A,NC_000002.12:56002142:T:C
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000342/1 (KOREAN)
HGVS:: NC_000002.12:g.56002143T>A, NC_000002.12:g.56002143T>C, NC_000002.11:g.56229278T>A, NC_000002.11:g.56229278T>C

Select item 14819751787.

rs1481975178 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:56001166 (GRCh38)
2:56228301 (GRCh37)
Canonical SPDI:: NC_000002.12:56001165:TT:T
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56001167del, NC_000002.11:g.56228302del

Select item 14781606238.

rs1478160623 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:56002127 (GRCh38)
2:56229262 (GRCh37)
Canonical SPDI:: NC_000002.12:56002126:A:G,NC_000002.12:56002126:A:T
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.56002127A>G, NC_000002.12:g.56002127A>T, NC_000002.11:g.56229262A>G, NC_000002.11:g.56229262A>T

Select item 14775004169.

rs1477500416 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:56001156 (GRCh38)
2:56228291 (GRCh37)
Canonical SPDI:: NC_000002.12:56001155:A:T
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.56001156A>T, NC_000002.11:g.56228291A>T

Select item 147613650010.

rs1476136500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:56001861 (GRCh38)
2:56228996 (GRCh37)
Canonical SPDI:: NC_000002.12:56001860:A:C
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.56001861A>C, NC_000002.11:g.56228996A>C

Select item 147605031211.

rs1476050312 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:56000479 (GRCh38)
2:56227614 (GRCh37)
Canonical SPDI:: NC_000002.12:56000478:G:C
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.56000479G>C, NC_000002.11:g.56227614G>C

Select item 147577594012.

rs1475775940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:56001428 (GRCh38)
2:56228563 (GRCh37)
Canonical SPDI:: NC_000002.12:56001427:G:A,NC_000002.12:56001427:G:C
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.56001428G>A, NC_000002.12:g.56001428G>C, NC_000002.11:g.56228563G>A, NC_000002.11:g.56228563G>C

Select item 147377019313.

rs1473770193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56001732 (GRCh38)
2:56228867 (GRCh37)
Canonical SPDI:: NC_000002.12:56001731:C:T
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.56001732C>T, NC_000002.11:g.56228867C>T

Select item 147132593514.

rs1471325935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:56001017 (GRCh38)
2:56228152 (GRCh37)
Canonical SPDI:: NC_000002.12:56001016:C:G
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56001017C>G, NC_000002.11:g.56228152C>G

Select item 146897927715.

rs1468979277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:56002363 (GRCh38)
2:56229498 (GRCh37)
Canonical SPDI:: NC_000002.12:56002362:G:A
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000177/3 (TOMMO)
A=0.001092/2 (Korea1K)
HGVS:: NC_000002.12:g.56002363G>A, NC_000002.11:g.56229498G>A

Select item 146828753816.

rs1468287538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:56000385 (GRCh38)
2:56227520 (GRCh37)
Canonical SPDI:: NC_000002.12:56000384:C:T
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000002.12:g.56000385C>T, NC_000002.11:g.56227520C>T

Select item 146657367617.

rs1466573676 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:56002627 (GRCh38)
2:56229762 (GRCh37)
Canonical SPDI:: NC_000002.12:56002626:T:G
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.56002627T>G, NC_000002.11:g.56229762T>G

Select item 146599041418.

rs1465990414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:56001897 (GRCh38)
2:56229032 (GRCh37)
Canonical SPDI:: NC_000002.12:56001896:T:C
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.56001897T>C, NC_000002.11:g.56229032T>C

Select item 146553403619.

rs1465534036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:56002389 (GRCh38)
2:56229524 (GRCh37)
Canonical SPDI:: NC_000002.12:56002388:G:A
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.56002389G>A, NC_000002.11:g.56229524G>A

Select item 146470110020.

rs1464701100 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:56001697 (GRCh38)
2:56228832 (GRCh37)
Canonical SPDI:: NC_000002.12:56001694:ATAT:AT
Gene:: MIR216B (Varview), MIR217HG (Varview), LOC105374690 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.56001695AT[1], NC_000002.11:g.56228830AT[1]

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