SNP Links for Gene (Select 574500) - SNP

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Select item 14908035411.

rs1490803541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53762551 (GRCh38)
19:54265805 (GRCh37)
Canonical SPDI:: NC_000019.10:53762550:G:C
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53762551G>C, NC_000019.9:g.54265805G>C

Select item 14905876362.

rs1490587636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53761336 (GRCh38)
19:54264590 (GRCh37)
Canonical SPDI:: NC_000019.10:53761335:A:G
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53761336A>G, NC_000019.9:g.54264590A>G

Select item 14897493533.

rs1489749353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53762348 (GRCh38)
19:54265602 (GRCh37)
Canonical SPDI:: NC_000019.10:53762347:A:G
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53762348A>G, NC_000019.9:g.54265602A>G, NR_030222.1:n.5A>G

Select item 14872610464.

rs1487261046 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53761666 (GRCh38)
19:54264920 (GRCh37)
Canonical SPDI:: NC_000019.10:53761665:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53761666C>T, NC_000019.9:g.54264920C>T

Select item 14857667365.

rs1485766736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53762179 (GRCh38)
19:54265433 (GRCh37)
Canonical SPDI:: NC_000019.10:53762178:T:C
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53762179T>C, NC_000019.9:g.54265433T>C

Select item 14854717706.

rs1485471770 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53760391 (GRCh38)
19:54263645 (GRCh37)
Canonical SPDI:: NC_000019.10:53760390:T:C
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001006/19 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000228/32 (GnomAD)
C=0.003795/17 (Estonian)
HGVS:: NC_000019.10:g.53760391T>C, NC_000019.9:g.54263645T>C

Select item 14853665877.

rs1485366587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53761478 (GRCh38)
19:54264732 (GRCh37)
Canonical SPDI:: NC_000019.10:53761477:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000132/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000019.10:g.53761478C>T, NC_000019.9:g.54264732C>T

Select item 14837322488.

rs1483732248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:53760672 (GRCh38)
19:54263926 (GRCh37)
Canonical SPDI:: NC_000019.10:53760671:T:C,NC_000019.10:53760671:T:G
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53760672T>C, NC_000019.10:g.53760672T>G, NC_000019.9:g.54263926T>C, NC_000019.9:g.54263926T>G

Select item 14833247469.

rs1483324746 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:53760548 (GRCh38)
19:54263802 (GRCh37)
Canonical SPDI:: NC_000019.10:53760547:C:G,NC_000019.10:53760547:C:T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00006/1 (TOMMO)
T=0.010502/1404 (GnomAD)
T=0.03529/226 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53760548C>G, NC_000019.10:g.53760548C>T, NC_000019.9:g.54263802C>G, NC_000019.9:g.54263802C>T

Select item 148264421910.

rs1482644219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53761080 (GRCh38)
19:54264334 (GRCh37)
Canonical SPDI:: NC_000019.10:53761079:C:G
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53761080C>G, NC_000019.9:g.54264334C>G

Select item 148121089211.

rs1481210892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53761762 (GRCh38)
19:54265016 (GRCh37)
Canonical SPDI:: NC_000019.10:53761761:C:A
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.53761762C>A, NC_000019.9:g.54265016C>A

Select item 148115007112.

rs1481150071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53762617 (GRCh38)
19:54265871 (GRCh37)
Canonical SPDI:: NC_000019.10:53762616:A:T
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.53762617A>T, NC_000019.9:g.54265871A>T

Select item 148049813313.

rs1480498133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53762623 (GRCh38)
19:54265877 (GRCh37)
Canonical SPDI:: NC_000019.10:53762622:C:G
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53762623C>G, NC_000019.9:g.54265877C>G

Select item 148023224114.

rs1480232241 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:53762176 (GRCh38)
19:54265430 (GRCh37)
Canonical SPDI:: NC_000019.10:53762175:T:
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.53762176del, NC_000019.9:g.54265430del

Select item 147977307515.

rs1479773075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53761985 (GRCh38)
19:54265239 (GRCh37)
Canonical SPDI:: NC_000019.10:53761984:G:C
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53761985G>C, NC_000019.9:g.54265239G>C

Select item 147946980916.

rs1479469809 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:53760673 (GRCh38)
19:54263928 (GRCh37)
Canonical SPDI:: NC_000019.10:53760673::T
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04819/787 (ALFA)
T=0.0006/10 (TOMMO)
T=0.00201/9 (Estonian)
T=0.00273/5 (Korea1K)
HGVS:: NC_000019.10:g.53760673_53760674insT, NC_000019.9:g.54263927_54263928insT

Select item 147921891817.

rs1479218918 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53761002 (GRCh38)
19:54264256 (GRCh37)
Canonical SPDI:: NC_000019.10:53761001:T:C
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53761002T>C, NC_000019.9:g.54264256T>C

Select item 147894144518.

rs1478941445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53761528 (GRCh38)
19:54264782 (GRCh37)
Canonical SPDI:: NC_000019.10:53761527:C:G
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.53761528C>G, NC_000019.9:g.54264782C>G

Select item 147672268219.

rs1476722682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53762849 (GRCh38)
19:54266103 (GRCh37)
Canonical SPDI:: NC_000019.10:53762848:G:A
Gene:: MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53762849G>A, NC_000019.9:g.54266103G>A

Select item 147661996820.

rs1476619968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53761067 (GRCh38)
19:54264321 (GRCh37)
Canonical SPDI:: NC_000019.10:53761066:T:C
Gene:: MIR516A2 (Varview), MIR519A2 (Varview), LOC124904766 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
T=0.5/2 (SGDP_PRJ)
HGVS:: NC_000019.10:g.53761067T>C, NC_000019.9:g.54264321T>C

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