SNP Links for Gene (Select 100302255) - SNP

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Select item 14915849101.

rs1491584910 has merged into rs771038079 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 19:53671642 (GRCh38)
19:54174896 (GRCh37)
Canonical SPDI:: NC_000019.10:53671641:TTT:TT,NC_000019.10:53671641:TTT:TTTT
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000184/3 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000106/2 (TOMMO)
-=0.000832/110 (GnomAD)
HGVS:: NC_000019.10:g.53671644del, NC_000019.10:g.53671644dup, NC_000019.9:g.54174898del, NC_000019.9:g.54174898dup

Select item 14915059072.

rs1491505907 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:53671641 (GRCh38)
19:54174895 (GRCh37)
Canonical SPDI:: NC_000019.10:53671640:AT:
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.002951/35 (ALFA)
-=0.00314/439 (GnomAD)
-=0.003435/22 (1000Genomes)
HGVS:: NC_000019.10:g.53671641_53671642del, NC_000019.9:g.54174895_54174896del

Select item 14910602453.

rs1491060245 has merged into rs60760866 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:53671178 (GRCh38)
19:54174432 (GRCh37)
Canonical SPDI:: NC_000019.10:53671168:AAAAAAAAAAA:AAAAAAAAA,NC_000019.10:53671168:AAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:53671168:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:53671168:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:53671168:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:53671168:AAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.056851/39 (1000Genomes)
-=0.1/60 (NorthernSweden)
-=0.112729/418 (TWINSUK)
-=0.121692/469 (ALSPAC)
-=0.135166/35777 (TOPMED)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000019.10:g.53671178_53671179del, NC_000019.10:g.53671179del, NC_000019.10:g.53671179dup, NC_000019.10:g.53671178_53671179dup, NC_000019.10:g.53671177_53671179dup, NC_000019.10:g.53671175_53671179dup, NC_000019.9:g.54174432_54174433del, NC_000019.9:g.54174433del, NC_000019.9:g.54174433dup, NC_000019.9:g.54174432_54174433dup, NC_000019.9:g.54174431_54174433dup, NC_000019.9:g.54174429_54174433dup

Select item 14900605124.

rs1490060512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53670098 (GRCh38)
19:54173352 (GRCh37)
Canonical SPDI:: NC_000019.10:53670097:G:A
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53670098G>A, NC_000019.9:g.54173352G>A

Select item 14854090355.

rs1485409035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53671911 (GRCh38)
19:54175165 (GRCh37)
Canonical SPDI:: NC_000019.10:53671910:G:A
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.53671911G>A, NC_000019.9:g.54175165G>A

Select item 14849210326.

rs1484921032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:53672174 (GRCh38)
19:54175428 (GRCh37)
Canonical SPDI:: NC_000019.10:53672173:C:A
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,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.53672174C>A, NC_000019.9:g.54175428C>A

Select item 14823286407.

rs1482328640 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:53670090 (GRCh38)
19:54173344 (GRCh37)
Canonical SPDI:: NC_000019.10:53670089:T:A,NC_000019.10:53670089:T:G
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000017/2 (GnomAD)
G=0.008556/25 (KOREAN)
HGVS:: NC_000019.10:g.53670090T>A, NC_000019.10:g.53670090T>G, NC_000019.9:g.54173344T>A, NC_000019.9:g.54173344T>G

Select item 14821876118.

rs1482187611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53670367 (GRCh38)
19:54173621 (GRCh37)
Canonical SPDI:: NC_000019.10:53670366:A:G
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53670367A>G, NC_000019.9:g.54173621A>G

Select item 14817545659.

rs1481754565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53672131 (GRCh38)
19:54175385 (GRCh37)
Canonical SPDI:: NC_000019.10:53672130:T:G
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53672131T>G, NC_000019.9:g.54175385T>G

Select item 147980633810.

rs1479806338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:53670149 (GRCh38)
19:54173403 (GRCh37)
Canonical SPDI:: NC_000019.10:53670148:T:A
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00548/16 (KOREAN)
HGVS:: NC_000019.10:g.53670149T>A, NC_000019.9:g.54173403T>A

Select item 147810664411.

rs1478106644 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53670235 (GRCh38)
19:54173489 (GRCh37)
Canonical SPDI:: NC_000019.10:53670234:T:C
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53670235T>C, NC_000019.9:g.54173489T>C

Select item 147745140012.

rs1477451400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53671782 (GRCh38)
19:54175036 (GRCh37)
Canonical SPDI:: NC_000019.10:53671781:T:C
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53671782T>C, NC_000019.9:g.54175036T>C

Select item 147744208513.

rs1477442085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53671065 (GRCh38)
19:54174319 (GRCh37)
Canonical SPDI:: NC_000019.10:53671064:A:G
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53671065A>G, NC_000019.9:g.54174319A>G

Select item 147669786314.

rs1476697863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:53670381 (GRCh38)
19:54173635 (GRCh37)
Canonical SPDI:: NC_000019.10:53670380:C:A,NC_000019.10:53670380:C:T
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.53670381C>A, NC_000019.10:g.53670381C>T, NC_000019.9:g.54173635C>A, NC_000019.9:g.54173635C>T

Select item 147401362415.

rs1474013624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53670993 (GRCh38)
19:54174247 (GRCh37)
Canonical SPDI:: NC_000019.10:53670992:C:T
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000019.10:g.53670993C>T, NC_000019.9:g.54174247C>T

Select item 147396359316.

rs1473963593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53670085 (GRCh38)
19:54173339 (GRCh37)
Canonical SPDI:: NC_000019.10:53670084:T:G
Gene:: MIR1323 (Varview), LOC107985342 (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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53670085T>G, NC_000019.9:g.54173339T>G

Select item 147359358217.

rs1473593582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53670622 (GRCh38)
19:54173876 (GRCh37)
Canonical SPDI:: NC_000019.10:53670621:A:G
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53670622A>G, NC_000019.9:g.54173876A>G, XR_001753996.2:n.395A>G, XR_001753996.1:n.377A>G

Select item 147292015118.

rs1472920151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:53669999 (GRCh38)
19:54173253 (GRCh37)
Canonical SPDI:: NC_000019.10:53669998:G:A,NC_000019.10:53669998:G:T
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
A=0.000038/10 (TOPMED)
HGVS:: NC_000019.10:g.53669999G>A, NC_000019.10:g.53669999G>T, NC_000019.9:g.54173253G>A, NC_000019.9:g.54173253G>T

Select item 147224108619.

rs1472241086 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:53671310 (GRCh38)
19:54174564 (GRCh37)
Canonical SPDI:: NC_000019.10:53671309:C:G,NC_000019.10:53671309:C:T
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_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_000019.10:g.53671310C>G, NC_000019.10:g.53671310C>T, NC_000019.9:g.54174564C>G, NC_000019.9:g.54174564C>T

Select item 147217973220.

rs1472179732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:53670608 (GRCh38)
19:54173862 (GRCh37)
Canonical SPDI:: NC_000019.10:53670607:G:C,NC_000019.10:53670607:G:T
Gene:: MIR1323 (Varview), LOC107985342 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53670608G>C, NC_000019.10:g.53670608G>T, NC_000019.9:g.54173862G>C, NC_000019.9:g.54173862G>T, XR_001753996.2:n.381G>C, XR_001753996.2:n.381G>T, XR_001753996.1:n.363G>C, XR_001753996.1:n.363G>T