SNP Links for Gene (Select 574485) - SNP

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Select item 14911762181.

rs1491176218 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:53724317 (GRCh38)
19:54227572 (GRCh37)
Canonical SPDI:: NC_000019.10:53724317:G:GG
Gene:: MIR516B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.001911/260 (GnomAD)
HGVS:: NC_000019.10:g.53724318dup, NC_000019.9:g.54227572dup

Select item 14910578542.

rs1491057854 has merged into rs201165233 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 19:53724325 (GRCh38)
19:54227579 (GRCh37)
Canonical SPDI:: NC_000019.10:53724318:TTTTTTTTTT:TTTTTT,NC_000019.10:53724318:TTTTTTTTTT:TTTTTTT,NC_000019.10:53724318:TTTTTTTTTT:TTTTTTTT,NC_000019.10:53724318:TTTTTTTTTT:TTTTTTTTT,NC_000019.10:53724318:TTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:53724318:TTTTTTTTTT:TTTTTTTTTTTT
Gene:: MIR516B2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.0524/96 (Korea1K)
T=0.065/39 (NorthernSweden)
HGVS:: NC_000019.10:g.53724325_53724328del, NC_000019.10:g.53724326_53724328del, NC_000019.10:g.53724327_53724328del, NC_000019.10:g.53724328del, NC_000019.10:g.53724328dup, NC_000019.10:g.53724327_53724328dup, NC_000019.9:g.54227579_54227582del, NC_000019.9:g.54227580_54227582del, NC_000019.9:g.54227581_54227582del, NC_000019.9:g.54227582del, NC_000019.9:g.54227582dup, NC_000019.9:g.54227581_54227582dup

Select item 14886723843.

rs1488672384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53724706 (GRCh38)
19:54227960 (GRCh37)
Canonical SPDI:: NC_000019.10:53724705:G:A,NC_000019.10:53724705:G:T
Gene:: MIR516B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.53724706G>A, NC_000019.10:g.53724706G>T, NC_000019.9:g.54227960G>A, NC_000019.9:g.54227960G>T

Select item 14885956944.

rs1488595694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53723851 (GRCh38)
19:54227105 (GRCh37)
Canonical SPDI:: NC_000019.10:53723850:G:T
Gene:: MIR516B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53723851G>T, NC_000019.9:g.54227105G>T

Select item 14878526035.

rs1487852603 [Homo sapiens]

Variant type:: DEL
Alleles:: ACGGG>- [Show Flanks]
Chromosome:: 19:53723789 (GRCh38)
19:54227043 (GRCh37)
Canonical SPDI:: NC_000019.10:53723788:ACGGG:
Gene:: MIR516B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.53723789_53723793del, NC_000019.9:g.54227043_54227047del

Select item 14873086276.

rs1487308627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53725950 (GRCh38)
19:54229204 (GRCh37)
Canonical SPDI:: NC_000019.10:53725949:C:T
Gene:: MIR516B2 (Varview), MIR526A2 (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:: NC_000019.10:g.53725950C>T, NC_000019.9:g.54229204C>T

Select item 14862472897.

rs1486247289 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53725884 (GRCh38)
19:54229138 (GRCh37)
Canonical SPDI:: NC_000019.10:53725883:G:A,NC_000019.10:53725883:G:T
Gene:: MIR516B2 (Varview), MIR526A2 (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)
HGVS:: NC_000019.10:g.53725884G>A, NC_000019.10:g.53725884G>T, NC_000019.9:g.54229138G>A, NC_000019.9:g.54229138G>T

Select item 14853517968.

rs1485351796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53725250 (GRCh38)
19:54228504 (GRCh37)
Canonical SPDI:: NC_000019.10:53725249:G:A
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53725250G>A, NC_000019.9:g.54228504G>A

Select item 14850440499.

rs1485044049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53725246 (GRCh38)
19:54228500 (GRCh37)
Canonical SPDI:: NC_000019.10:53725245:G:A,NC_000019.10:53725245:G:T
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000019.10:g.53725246G>A, NC_000019.10:g.53725246G>T, NC_000019.9:g.54228500G>A, NC_000019.9:g.54228500G>T

Select item 148441876710.

rs1484418767 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53723704 (GRCh38)
19:54226958 (GRCh37)
Canonical SPDI:: NC_000019.10:53723703:C:T
Gene:: MIR516B2 (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:: NC_000019.10:g.53723704C>T, NC_000019.9:g.54226958C>T

Select item 148401338511.

rs1484013385 [Homo sapiens]

Variant type:: DEL
Alleles:: TCTTTTTCG>- [Show Flanks]
Chromosome:: 19:53725698 (GRCh38)
19:54228952 (GRCh37)
Canonical SPDI:: NC_000019.10:53725697:TCTTTTTCG:
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53725698_53725706del, NC_000019.9:g.54228952_54228960del

Select item 148309065912.

rs1483090659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53723943 (GRCh38)
19:54227197 (GRCh37)
Canonical SPDI:: NC_000019.10:53723942:C:G
Gene:: MIR516B2 (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=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53723943C>G, NC_000019.9:g.54227197C>G

Select item 147869680413.

rs1478696804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53725427 (GRCh38)
19:54228681 (GRCh37)
Canonical SPDI:: NC_000019.10:53725426:G:T
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53725427G>T, NC_000019.9:g.54228681G>T

Select item 147708744614.

rs1477087446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53723543 (GRCh38)
19:54226797 (GRCh37)
Canonical SPDI:: NC_000019.10:53723542:A:G
Gene:: MIR516B2 (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=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53723543A>G, NC_000019.9:g.54226797A>G

Select item 147607314115.

rs1476073141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53725768 (GRCh38)
19:54229022 (GRCh37)
Canonical SPDI:: NC_000019.10:53725767:C:T
Gene:: MIR516B2 (Varview), MIR526A2 (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=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53725768C>T, NC_000019.9:g.54229022C>T

Select item 147557952716.

rs1475579527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:53724604 (GRCh38)
19:54227858 (GRCh37)
Canonical SPDI:: NC_000019.10:53724603:C:A,NC_000019.10:53724603:C:T
Gene:: MIR516B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.53724604C>A, NC_000019.10:g.53724604C>T, NC_000019.9:g.54227858C>A, NC_000019.9:g.54227858C>T

Select item 147535595817.

rs1475355958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53725607 (GRCh38)
19:54228861 (GRCh37)
Canonical SPDI:: NC_000019.10:53725606:T:C
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.53725607T>C, NC_000019.9:g.54228861T>C

Select item 147526203318.

rs1475262033 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53724737 (GRCh38)
19:54227991 (GRCh37)
Canonical SPDI:: NC_000019.10:53724736:T:C
Gene:: MIR516B2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.53724737T>C, NC_000019.9:g.54227991T>C

Select item 147495954019.

rs1474959540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53725330 (GRCh38)
19:54228584 (GRCh37)
Canonical SPDI:: NC_000019.10:53725329:G:A,NC_000019.10:53725329:G:T
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.53725330G>A, NC_000019.10:g.53725330G>T, NC_000019.9:g.54228584G>A, NC_000019.9:g.54228584G>T

Select item 147471248520.

rs1474712485 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53725101 (GRCh38)
19:54228355 (GRCh37)
Canonical SPDI:: NC_000019.10:53725100:C:T
Gene:: MIR516B2 (Varview), MIR526A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53725101C>T, NC_000019.9:g.54228355C>T

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