SNP Links for Gene (Select 574480) - SNP

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Select item 14902754261.

rs1490275426 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:53711710 (GRCh38)
19:54214964 (GRCh37)
Canonical SPDI:: NC_000019.10:53711709:T:A,NC_000019.10:53711709:T:G
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.53711710T>A, NC_000019.10:g.53711710T>G, NC_000019.9:g.54214964T>A, NC_000019.9:g.54214964T>G

Select item 14897595912.

rs1489759591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:53713266 (GRCh38)
19:54216520 (GRCh37)
Canonical SPDI:: NC_000019.10:53713265:A:C
Gene:: MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.53713266A>C, NC_000019.9:g.54216520A>C

Select item 14897292523.

rs1489729252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 19:53711479 (GRCh38)
19:54214734 (GRCh37)
Canonical SPDI:: NC_000019.10:53711479:A:AGA
Gene:: MIR524 (Varview), MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000071/1 (ALFA)
AG=0.000011/3 (TOPMED)
AG=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.53711480_53711481insGA, NC_000019.9:g.54214734_54214735insGA

Select item 14894236824.

rs1489423682 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53712154 (GRCh38)
19:54215408 (GRCh37)
Canonical SPDI:: NC_000019.10:53712153:G:A,NC_000019.10:53712153:G:T
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53712154G>A, NC_000019.10:g.53712154G>T, NC_000019.9:g.54215408G>A, NC_000019.9:g.54215408G>T

Select item 14877048855.

rs1487704885 [Homo sapiens]

Variant type:: DEL
Alleles:: GATGATGCTG>- [Show Flanks]
Chromosome:: 19:53713449 (GRCh38)
19:54216703 (GRCh37)
Canonical SPDI:: NC_000019.10:53713448:GATGATGCTG:
Gene:: MIR519D (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000019.10:g.53713449_53713458del, NC_000019.9:g.54216703_54216712del

Select item 14864226746.

rs1486422674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53713906 (GRCh38)
19:54217160 (GRCh37)
Canonical SPDI:: NC_000019.10:53713905:C:A
Gene:: MIR519D (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53713906C>A, NC_000019.9:g.54217160C>A

Select item 14856729497.

rs1485672949 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:53713540 (GRCh38)
19:54216795 (GRCh37)
Canonical SPDI:: NC_000019.10:53713540:TT:TTT
Gene:: MIR519D (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: T=0.000052/6 (GnomAD)
T=0.002183/4 (Korea1K)
HGVS:: NC_000019.10:g.53713542dup, NC_000019.9:g.54216796dup

Select item 14843507658.

rs1484350765 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:53712307 (GRCh38)
19:54215561 (GRCh37)
Canonical SPDI:: NC_000019.10:53712306:G:A,NC_000019.10:53712306:G:C
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53712307G>A, NC_000019.10:g.53712307G>C, NC_000019.9:g.54215561G>A, NC_000019.9:g.54215561G>C, NR_030201.1:n.40G>A, NR_030201.1:n.40G>C

Select item 14823052389.

rs1482305238 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 19:53712413 (GRCh38)
19:54215667 (GRCh37)
Canonical SPDI:: NC_000019.10:53712408:ATCATCA:ATCA
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATCA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.53712410TCA[1], NC_000019.9:g.54215664TCA[1]

Select item 148196345510.

rs1481963455 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53713367 (GRCh38)
19:54216621 (GRCh37)
Canonical SPDI:: NC_000019.10:53713366:A:G
Gene:: MIR519D (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53713367A>G, NC_000019.9:g.54216621A>G, NR_030202.1:n.21A>G

Select item 148122500311.

rs1481225003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53713002 (GRCh38)
19:54216256 (GRCh37)
Canonical SPDI:: NC_000019.10:53713001:G:A
Gene:: MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.53713002G>A, NC_000019.9:g.54216256G>A

Select item 148081342012.

rs1480813420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53712397 (GRCh38)
19:54215651 (GRCh37)
Canonical SPDI:: NC_000019.10:53712396:C:T
Gene:: MIR517A (Varview), MIR519D (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=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53712397C>T, NC_000019.9:g.54215651C>T

Select item 148021567213.

rs1480215672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53711801 (GRCh38)
19:54215055 (GRCh37)
Canonical SPDI:: NC_000019.10:53711800:C:T
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53711801C>T, NC_000019.9:g.54215055C>T

Select item 147853265414.

rs1478532654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:53711869 (GRCh38)
19:54215123 (GRCh37)
Canonical SPDI:: NC_000019.10:53711868:C:G,NC_000019.10:53711868:C:T
Gene:: MIR517A (Varview), MIR519D (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.53711869C>G, NC_000019.10:g.53711869C>T, NC_000019.9:g.54215123C>G, NC_000019.9:g.54215123C>T

Select item 147787708715.

rs1477877087 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53712575 (GRCh38)
19:54215829 (GRCh37)
Canonical SPDI:: NC_000019.10:53712574:T:C
Gene:: MIR517A (Varview), MIR519D (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=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53712575T>C, NC_000019.9:g.54215829T>C

Select item 147680131316.

rs1476801313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53712235 (GRCh38)
19:54215489 (GRCh37)
Canonical SPDI:: NC_000019.10:53712234:G:A
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.53712235G>A, NC_000019.9:g.54215489G>A

Select item 147620551017.

rs1476205510 has merged into rs74177808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTG>-,TTTGTTTG,TTTGTTTGTTTG [Show Flanks]
Chromosome:: 19:53713536 (GRCh38)
19:54216790 (GRCh37)
Canonical SPDI:: NC_000019.10:53713523:TTTGTTTGTTTGTTTG:TTTGTTTGTTTG,NC_000019.10:53713523:TTTGTTTGTTTGTTTG:TTTGTTTGTTTGTTTGTTTG,NC_000019.10:53713523:TTTGTTTGTTTGTTTG:TTTGTTTGTTTGTTTGTTTGTTTG
Gene:: MIR519D (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTGTTTGTTTGTTTGTTTGTTTG=0./0 (ALFA)
-=0.335/201 (NorthernSweden)
-=0.35/14 (GENOME_DK)
-=0.3597/659 (Korea1K)
-=0.3857/1430 (TWINSUK)
-=0.4027/1552 (ALSPAC)
HGVS:: NC_000019.10:g.53713524TTTG[3], NC_000019.10:g.53713524TTTG[5], NC_000019.10:g.53713524TTTG[6], NC_000019.9:g.54216778TTTG[3], NC_000019.9:g.54216778TTTG[5], NC_000019.9:g.54216778TTTG[6]

Select item 147547840418.

rs1475478404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53713572 (GRCh38)
19:54216826 (GRCh37)
Canonical SPDI:: NC_000019.10:53713571:T:C
Gene:: MIR519D (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53713572T>C, NC_000019.9:g.54216826T>C

Select item 147351244319.

rs1473512443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53711901 (GRCh38)
19:54215155 (GRCh37)
Canonical SPDI:: NC_000019.10:53711900:C:A
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53711901C>A, NC_000019.9:g.54215155C>A

Select item 147325318520.

rs1473253185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53711884 (GRCh38)
19:54215138 (GRCh37)
Canonical SPDI:: NC_000019.10:53711883:A:G
Gene:: MIR517A (Varview), MIR519D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53711884A>G, NC_000019.9:g.54215138A>G

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