SNP Links for Gene (Select 574472) - SNP

Links from Gene

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Select item 14913306351.

rs1491330635 has merged into rs56206694 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:53698842 (GRCh38)
19:54202096 (GRCh37)
Canonical SPDI:: NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:53698833:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MIR523 (Varview), MIR518F (Varview), LOC107985346 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000019.10:g.53698842_53698853del, NC_000019.10:g.53698843_53698853del, NC_000019.10:g.53698846_53698853del, NC_000019.10:g.53698847_53698853del, NC_000019.10:g.53698848_53698853del, NC_000019.10:g.53698850_53698853del, NC_000019.10:g.53698851_53698853del, NC_000019.10:g.53698852_53698853del, NC_000019.10:g.53698853del, NC_000019.10:g.53698853dup, NC_000019.10:g.53698852_53698853dup, NC_000019.10:g.53698851_53698853dup, NC_000019.10:g.53698850_53698853dup, NC_000019.10:g.53698848_53698853dup, NC_000019.10:g.53698847_53698853dup, NC_000019.10:g.53698845_53698853dup, NC_000019.10:g.53698844_53698853dup, NC_000019.10:g.53698843_53698853dup, NC_000019.10:g.53698842_53698853dup, NC_000019.10:g.53698841_53698853dup, NC_000019.10:g.53698840_53698853dup, NC_000019.10:g.53698839_53698853dup, NC_000019.10:g.53698838_53698853dup, NC_000019.10:g.53698837_53698853dup, NC_000019.10:g.53698836_53698853dup, NC_000019.10:g.53698853_53698854insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.54202096_54202107del, NC_000019.9:g.54202097_54202107del, NC_000019.9:g.54202100_54202107del, NC_000019.9:g.54202101_54202107del, NC_000019.9:g.54202102_54202107del, NC_000019.9:g.54202104_54202107del, NC_000019.9:g.54202105_54202107del, NC_000019.9:g.54202106_54202107del, NC_000019.9:g.54202107del, NC_000019.9:g.54202107dup, NC_000019.9:g.54202106_54202107dup, NC_000019.9:g.54202105_54202107dup, NC_000019.9:g.54202104_54202107dup, NC_000019.9:g.54202102_54202107dup, NC_000019.9:g.54202101_54202107dup, NC_000019.9:g.54202099_54202107dup, NC_000019.9:g.54202098_54202107dup, NC_000019.9:g.54202097_54202107dup, NC_000019.9:g.54202096_54202107dup, NC_000019.9:g.54202095_54202107dup, NC_000019.9:g.54202094_54202107dup, NC_000019.9:g.54202093_54202107dup, NC_000019.9:g.54202092_54202107dup, NC_000019.9:g.54202091_54202107dup, NC_000019.9:g.54202090_54202107dup, NC_000019.9:g.54202107_54202108insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910441512.

rs1491044151 has merged into rs566728707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 19:53698565 (GRCh38)
19:54201819 (GRCh37)
Canonical SPDI:: NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:53698556:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: MIR523 (Varview), MIR518F (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53698565_53698570del, NC_000019.10:g.53698568_53698570del, NC_000019.10:g.53698569_53698570del, NC_000019.10:g.53698570del, NC_000019.10:g.53698570dup, NC_000019.10:g.53698569_53698570dup, NC_000019.10:g.53698568_53698570dup, NC_000019.9:g.54201819_54201824del, NC_000019.9:g.54201822_54201824del, NC_000019.9:g.54201823_54201824del, NC_000019.9:g.54201824del, NC_000019.9:g.54201824dup, NC_000019.9:g.54201823_54201824dup, NC_000019.9:g.54201822_54201824dup

Select item 14907518653.

rs1490751865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53698887 (GRCh38)
19:54202141 (GRCh37)
Canonical SPDI:: NC_000019.10:53698886:T:C
Gene:: MIR523 (Varview), MIR518F (Varview), LOC107985346 (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=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.53698887T>C, NC_000019.9:g.54202141T>C

Select item 14892518124.

rs1489251812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53700330 (GRCh38)
19:54203584 (GRCh37)
Canonical SPDI:: NC_000019.10:53700329:G:A
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53700330G>A, NC_000019.9:g.54203584G>A

Select item 14868741105.

rs1486874110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53698054 (GRCh38)
19:54201308 (GRCh37)
Canonical SPDI:: NC_000019.10:53698053:C:T
Gene:: MIR525 (Varview), MIR523 (Varview), MIR518F (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.53698054C>T, NC_000019.9:g.54201308C>T

Select item 14845178966.

rs1484517896 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53698921 (GRCh38)
19:54202175 (GRCh37)
Canonical SPDI:: NC_000019.10:53698920:G:A
Gene:: MIR523 (Varview), MIR518F (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000048/6 (GnomAD)
A=0.000071/2 (TOMMO)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.53698921G>A, NC_000019.9:g.54202175G>A

Select item 14842421007.

rs1484242100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53699929 (GRCh38)
19:54203183 (GRCh37)
Canonical SPDI:: NC_000019.10:53699928:C:G
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (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:: NC_000019.10:g.53699929C>G, NC_000019.9:g.54203183C>G

Select item 14833706208.

rs1483370620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:53698568 (GRCh38)
19:54201822 (GRCh37)
Canonical SPDI:: NC_000019.10:53698567:T:A
Gene:: MIR523 (Varview), MIR518F (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53698568T>A, NC_000019.9:g.54201822T>A

Select item 14831356649.

rs1483135664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53698744 (GRCh38)
19:54201998 (GRCh37)
Canonical SPDI:: NC_000019.10:53698743:C:A
Gene:: MIR523 (Varview), MIR518F (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000425/7 (TOMMO)
A=0.000684/2 (KOREAN)
A=0.001638/3 (Korea1K)
HGVS:: NC_000019.10:g.53698744C>A, NC_000019.9:g.54201998C>A

Select item 148254749710.

rs1482547497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:53700416 (GRCh38)
19:54203670 (GRCh37)
Canonical SPDI:: NC_000019.10:53700415:G:T
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (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.53700416G>T, NC_000019.9:g.54203670G>T

Select item 148221887011.

rs1482218870 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53700011 (GRCh38)
19:54203265 (GRCh37)
Canonical SPDI:: NC_000019.10:53700010:A:T
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (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.53700011A>T, NC_000019.9:g.54203265A>T

Select item 147847476912.

rs1478474769 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:53700229 (GRCh38)
19:54203483 (GRCh37)
Canonical SPDI:: NC_000019.10:53700228:A:C
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (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=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53700229A>C, NC_000019.9:g.54203483A>C

Select item 147654480013.

rs1476544800 has merged into rs1227404453 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 19:53698826 (GRCh38)
19:54202080 (GRCh37)
Canonical SPDI:: NC_000019.10:53698821:TTTTTT:TTTT,NC_000019.10:53698821:TTTTTT:TTTTT,NC_000019.10:53698821:TTTTTT:TTTTTTT,NC_000019.10:53698821:TTTTTT:TTTTTTTTTTT,NC_000019.10:53698821:TTTTTT:TTTTTTTTTTTT
Gene:: MIR523 (Varview), MIR518F (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.53698826_53698827del, NC_000019.10:g.53698827del, NC_000019.10:g.53698827dup, NC_000019.10:g.53698823_53698827dup, NC_000019.10:g.53698822_53698827dup, NC_000019.9:g.54202080_54202081del, NC_000019.9:g.54202081del, NC_000019.9:g.54202081dup, NC_000019.9:g.54202077_54202081dup, NC_000019.9:g.54202076_54202081dup

Select item 147441038214.

rs1474410382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53699473 (GRCh38)
19:54202727 (GRCh37)
Canonical SPDI:: NC_000019.10:53699472:C:T
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53699473C>T, NC_000019.9:g.54202727C>T

Select item 147312443815.

rs1473124438 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:53700148 (GRCh38)
19:54203402 (GRCh37)
Canonical SPDI:: NC_000019.10:53700147:G:C
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (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.53700148G>C, NC_000019.9:g.54203402G>C

Select item 147297907916.

rs1472979079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53699201 (GRCh38)
19:54202455 (GRCh37)
Canonical SPDI:: NC_000019.10:53699200:C:G
Gene:: MIR518F (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.53699201C>G, NC_000019.9:g.54202455C>G

Select item 147245936417.

rs1472459364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53698405 (GRCh38)
19:54201659 (GRCh37)
Canonical SPDI:: NC_000019.10:53698404:G:A
Gene:: MIR523 (Varview), MIR518F (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53698405G>A, NC_000019.9:g.54201659G>A, NR_030193.1:n.21G>A

Select item 147102397218.

rs1471023972 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:53698655 (GRCh38)
19:54201909 (GRCh37)
Canonical SPDI:: NC_000019.10:53698654:GGG:GG
Gene:: MIR523 (Varview), MIR518F (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53698657del, NC_000019.9:g.54201911del

Select item 146970047119.

rs1469700471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:53699150 (GRCh38)
19:54202404 (GRCh37)
Canonical SPDI:: NC_000019.10:53699149:A:T
Gene:: MIR518F (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53699150A>T, NC_000019.9:g.54202404A>T

Select item 146936833220.

rs1469368332 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53699331 (GRCh38)
19:54202585 (GRCh37)
Canonical SPDI:: NC_000019.10:53699330:G:A
Gene:: MIR518F (Varview), MIR520B (Varview), LOC107985346 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.001012/12 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53699331G>A, NC_000019.9:g.54202585G>A

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