SNP Links for Gene (Select 100302220) - SNP

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Links from Gene

Items: 1 to 20 of 526

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Select item 14902817251.

rs1490281725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:50235662 (GRCh38)
12:50629445 (GRCh37)
Canonical SPDI:: NC_000012.12:50235661:G:T
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000012.12:g.50235662G>T, NC_000012.11:g.50629445G>T, NG_029859.1:g.52909C>A

Select item 14898455652.

rs1489845565 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:50234671 (GRCh38)
12:50628454 (GRCh37)
Canonical SPDI:: NC_000012.12:50234670:T:C
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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)
HGVS:: NC_000012.12:g.50234671T>C, NC_000012.11:g.50628454T>C, NG_029859.1:g.53900A>G

Select item 14898070953.

rs1489807095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:50236188 (GRCh38)
12:50629971 (GRCh37)
Canonical SPDI:: NC_000012.12:50236187:C:A
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50236188C>A, NC_000012.11:g.50629971C>A, NG_029859.1:g.52383G>T

Select item 14889754334.

rs1488975433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50235577 (GRCh38)
12:50629360 (GRCh37)
Canonical SPDI:: NC_000012.12:50235576:A:G
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.50235577A>G, NC_000012.11:g.50629360A>G, NG_029859.1:g.52994T>C

Select item 14883317335.

rs1488331733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:50234669 (GRCh38)
12:50628452 (GRCh37)
Canonical SPDI:: NC_000012.12:50234668:A:C
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,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)
HGVS:: NC_000012.12:g.50234669A>C, NC_000012.11:g.50628452A>C, NG_029859.1:g.53902T>G

Select item 14839894156.

rs1483989415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50235130 (GRCh38)
12:50628913 (GRCh37)
Canonical SPDI:: NC_000012.12:50235129:C:T
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000012.12:g.50235130C>T, NC_000012.11:g.50628913C>T, NG_029859.1:g.53441G>A

Select item 14839497177.

rs1483949717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:50234325 (GRCh38)
12:50628108 (GRCh37)
Canonical SPDI:: NC_000012.12:50234324:C:G,NC_000012.12:50234324:C:T
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000057/8 (GnomAD)
HGVS:: NC_000012.12:g.50234325C>G, NC_000012.12:g.50234325C>T, NC_000012.11:g.50628108C>G, NC_000012.11:g.50628108C>T, NG_029859.1:g.54246G>C, NG_029859.1:g.54246G>A

Select item 14839385798.

rs1483938579 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50235238 (GRCh38)
12:50629021 (GRCh37)
Canonical SPDI:: NC_000012.12:50235237:A:G
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.50235238A>G, NC_000012.11:g.50629021A>G, NG_029859.1:g.53333T>C

Select item 14823168899.

rs1482316889 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:50235384 (GRCh38)
12:50629167 (GRCh37)
Canonical SPDI:: NC_000012.12:50235383:T:G
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50235384T>G, NC_000012.11:g.50629167T>G, NG_029859.1:g.53187A>C

Select item 147937670510.

rs1479376705 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:50234337 (GRCh38)
12:50628120 (GRCh37)
Canonical SPDI:: NC_000012.12:50234336:T:C
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.50234337T>C, NC_000012.11:g.50628120T>C, NG_029859.1:g.54234A>G

Select item 147607656011.

rs1476076560 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:50234109 (GRCh38)
12:50627892 (GRCh37)
Canonical SPDI:: NC_000012.12:50234108:G:C
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.50234109G>C, NC_000012.11:g.50627892G>C, NG_029859.1:g.54462C>G

Select item 147400460712.

rs1474004607 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:50234969 (GRCh38)
12:50628752 (GRCh37)
Canonical SPDI:: NC_000012.12:50234968:C:A,NC_000012.12:50234968:C:G
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.50234969C>A, NC_000012.12:g.50234969C>G, NC_000012.11:g.50628752C>A, NC_000012.11:g.50628752C>G, NG_029859.1:g.53602G>T, NG_029859.1:g.53602G>C

Select item 147395474213.

rs1473954742 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:50233798 (GRCh38)
12:50627581 (GRCh37)
Canonical SPDI:: NC_000012.12:50233797:T:C
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.50233798T>C, NC_000012.11:g.50627581T>C, NG_029859.1:g.54773A>G

Select item 147343545114.

rs1473435451 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:50234060 (GRCh38)
12:50627843 (GRCh37)
Canonical SPDI:: NC_000012.12:50234057:TTTT:TT
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.50234060_50234061del, NC_000012.11:g.50627843_50627844del, NG_029859.1:g.54512_54513del

Select item 147303810315.

rs1473038103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:50233754 (GRCh38)
12:50627537 (GRCh37)
Canonical SPDI:: NC_000012.12:50233753:A:C
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.003821/7 (Korea1K)
HGVS:: NC_000012.12:g.50233754A>C, NC_000012.11:g.50627537A>C, NG_029859.1:g.54817T>G

Select item 147298484016.

rs1472984840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:50236207 (GRCh38)
12:50629990 (GRCh37)
Canonical SPDI:: NC_000012.12:50236206:G:T
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.50236207G>T, NC_000012.11:g.50629990G>T, NG_029859.1:g.52364C>A

Select item 147237788117.

rs1472377881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:50235925 (GRCh38)
12:50629708 (GRCh37)
Canonical SPDI:: NC_000012.12:50235924:G:C,NC_000012.12:50235924:G:T
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.50235925G>C, NC_000012.12:g.50235925G>T, NC_000012.11:g.50629708G>C, NC_000012.11:g.50629708G>T, NG_029859.1:g.52646C>G, NG_029859.1:g.52646C>A

Select item 147221827218.

rs1472218272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50235913 (GRCh38)
12:50629696 (GRCh37)
Canonical SPDI:: NC_000012.12:50235912:C:T
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.50235913C>T, NC_000012.11:g.50629696C>T, NG_029859.1:g.52658G>A

Select item 147178785619.

rs1471787856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:50234881 (GRCh38)
12:50628664 (GRCh37)
Canonical SPDI:: NC_000012.12:50234880:C:A
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50234881C>A, NC_000012.11:g.50628664C>A, NG_029859.1:g.53690G>T

Select item 146940042720.

rs1469400427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:50234864 (GRCh38)
12:50628647 (GRCh37)
Canonical SPDI:: NC_000012.12:50234863:A:C,NC_000012.12:50234863:A:G
Gene:: LIMA1 (Varview), MIR1293 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.50234864A>C, NC_000012.12:g.50234864A>G, NC_000012.11:g.50628647A>C, NC_000012.11:g.50628647A>G, NG_029859.1:g.53707T>G, NG_029859.1:g.53707T>C