SNP Links for Nucleotide (Select 948284491) - SNP

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Links from Nucleotide

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Select item 14900238881.

rs1490023888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64892609 (GRCh38)
11:64660081 (GRCh37)
Canonical SPDI:: NC_000011.10:64892608:G:C
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: non_coding_transcript_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_000011.10:g.64892609G>C, NC_000011.9:g.64660081G>C, NR_133638.1:n.598C>G, NR_133639.1:n.257C>G, NR_133640.1:n.257C>G

Select item 14900162242.

rs1490016224 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:64891262 (GRCh38)
11:64658734 (GRCh37)
Canonical SPDI:: NC_000011.10:64891261:C:G
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000045/7 (GnomAD_exomes)
G=0.000057/8 (GnomAD)
G=0.000072/19 (TOPMED)
HGVS:: NC_000011.10:g.64891262C>G, NC_000011.9:g.64658734C>G, NR_133638.1:n.1945G>C

Select item 14900113993.

rs1490011399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:64891075 (GRCh38)
11:64658547 (GRCh37)
Canonical SPDI:: NC_000011.10:64891074:C:G,NC_000011.10:64891074:C:T
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000011.10:g.64891075C>G, NC_000011.10:g.64891075C>T, NC_000011.9:g.64658547C>G, NC_000011.9:g.64658547C>T, NR_133638.1:n.2132G>C, NR_133638.1:n.2132G>A

Select item 14898632794.

rs1489863279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64892076 (GRCh38)
11:64659548 (GRCh37)
Canonical SPDI:: NC_000011.10:64892075:G:A
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: non_coding_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_000011.10:g.64892076G>A, NC_000011.9:g.64659548G>A, NR_133638.1:n.1131C>T

Select item 14881029435.

rs1488102943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:64892749 (GRCh38)
11:64660221 (GRCh37)
Canonical SPDI:: NC_000011.10:64892748:G:A,NC_000011.10:64892748:G:T
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.64892749G>A, NC_000011.10:g.64892749G>T, NC_000011.9:g.64660221G>A, NC_000011.9:g.64660221G>T, NR_133638.1:n.458C>T, NR_133638.1:n.458C>A, NR_133639.1:n.117C>T, NR_133639.1:n.117C>A, NR_133640.1:n.117C>T, NR_133640.1:n.117C>A

Select item 14840408516.

rs1484040851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64893058 (GRCh38)
11:64660530 (GRCh37)
Canonical SPDI:: NC_000011.10:64893057:G:A
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000011.10:g.64893058G>A, NC_000011.9:g.64660530G>A, NR_133638.1:n.149C>T

Select item 14831612337.

rs1483161233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:64892891 (GRCh38)
11:64660363 (GRCh37)
Canonical SPDI:: NC_000011.10:64892890:A:C
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64892891A>C, NC_000011.9:g.64660363A>C, NR_133638.1:n.316T>G

Select item 14828503198.

rs1482850319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:64892306 (GRCh38)
11:64659778 (GRCh37)
Canonical SPDI:: NC_000011.10:64892305:A:C
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000011.10:g.64892306A>C, NC_000011.9:g.64659778A>C, NR_133638.1:n.901T>G

Select item 14819793979.

rs1481979397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64891963 (GRCh38)
11:64659435 (GRCh37)
Canonical SPDI:: NC_000011.10:64891962:T:C
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64891963T>C, NC_000011.9:g.64659435T>C, NR_133638.1:n.1244A>G

Select item 148070509210.

rs1480705092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64892552 (GRCh38)
11:64660024 (GRCh37)
Canonical SPDI:: NC_000011.10:64892551:C:T
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64892552C>T, NC_000011.9:g.64660024C>T, NR_133638.1:n.655G>A, NR_133639.1:n.314G>A

Select item 148012609311.

rs1480126093 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGCA>- [Show Flanks]
Chromosome:: 11:64890963 (GRCh38)
11:64658435 (GRCh37)
Canonical SPDI:: NC_000011.10:64890959:GCAAAGCA:GCA
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GCA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64890963_64890967del, NC_000011.9:g.64658435_64658439del, NR_133638.1:n.2243_2247del

Select item 148001211712.

rs1480012117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64891535 (GRCh38)
11:64659007 (GRCh37)
Canonical SPDI:: NC_000011.10:64891534:C:T
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64891535C>T, NC_000011.9:g.64659007C>T, NR_133638.1:n.1672G>A

Select item 147973842713.

rs1479738427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:64891215 (GRCh38)
11:64658687 (GRCh37)
Canonical SPDI:: NC_000011.10:64891214:A:T
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64891215A>T, NC_000011.9:g.64658687A>T, NR_133638.1:n.1992T>A, NR_029578.1:n.32T>A

Select item 147938629114.

rs1479386291 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64891100 (GRCh38)
11:64658572 (GRCh37)
Canonical SPDI:: NC_000011.10:64891099:C:T
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.64891100C>T, NC_000011.9:g.64658572C>T, NR_133638.1:n.2107G>A

Select item 147891230815.

rs1478912308 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64891557 (GRCh38)
11:64659029 (GRCh37)
Canonical SPDI:: NC_000011.10:64891556:A:G
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64891557A>G, NC_000011.9:g.64659029A>G, NR_133638.1:n.1650T>C

Select item 147759816116.

rs1477598161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64890772 (GRCh38)
11:64658244 (GRCh37)
Canonical SPDI:: NC_000011.10:64890771:C:T
Gene:: MIR192 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
T=0.00025/7 (TOMMO)
T=0.00055/1 (Korea1K)
HGVS:: NC_000011.10:g.64890772C>T, NC_000011.9:g.64658244C>T, NR_133638.1:n.2435G>A

Select item 147563016917.

rs1475630169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64891315 (GRCh38)
11:64658787 (GRCh37)
Canonical SPDI:: NC_000011.10:64891314:G:A
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64891315G>A, NC_000011.9:g.64658787G>A, NR_133638.1:n.1892C>T

Select item 147316470218.

rs1473164702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64890965 (GRCh38)
11:64658437 (GRCh37)
Canonical SPDI:: NC_000011.10:64890964:G:A
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64890965G>A, NC_000011.9:g.64658437G>A, NR_133638.1:n.2242C>T

Select item 147152587219.

rs1471525872 [Homo sapiens]

Variant type:: DEL
Alleles:: CCTGCACGCTGGGCTGGCCTGGT>- [Show Flanks]
Chromosome:: 11:64892598 (GRCh38)
11:64660070 (GRCh37)
Canonical SPDI:: NC_000011.10:64892597:CCTGCACGCTGGGCTGGCCTGGT:
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64892598_64892620del, NC_000011.9:g.64660070_64660092del, NR_133638.1:n.587_609del, NR_133639.1:n.246_268del, NR_133640.1:n.246_268del

Select item 147084897820.

rs1470848978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64891446 (GRCh38)
11:64658918 (GRCh37)
Canonical SPDI:: NC_000011.10:64891445:G:C
Gene:: MIR192 (Varview), MIR194-2 (Varview), MIR194-2HG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
HGVS:: NC_000011.10:g.64891446G>C, NC_000011.9:g.64658918G>C, NR_133638.1:n.1761C>G

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