SNP Links for Gene (Select 148046) - SNP

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Select item 14914769021.

rs1491476902 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:1270233 (GRCh38)
19:1270233 (GRCh37)
Canonical SPDI:: NC_000019.10:1270233::T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000162/1 (GnomAD)
HGVS:: NC_000019.10:g.1270233_1270234insT, NC_000019.9:g.1270232_1270233insT, NR_027271.1:n.27_28insA, NM_152480.1:c.-94_-93insA

Select item 14904906482.

rs1490490648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1269806 (GRCh38)
19:1269805 (GRCh37)
Canonical SPDI:: NC_000019.10:1269805:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.1269806C>T, NC_000019.9:g.1269805C>T

Select item 14895043403.

rs1489504340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1269653 (GRCh38)
19:1269652 (GRCh37)
Canonical SPDI:: NC_000019.10:1269652:G:A,NC_000019.10:1269652:G:C
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1269653G>A, NC_000019.10:g.1269653G>C, NC_000019.9:g.1269652G>A, NC_000019.9:g.1269652G>C

Select item 14890402844.

rs1489040284 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:1269260 (GRCh38)
19:1269259 (GRCh37)
Canonical SPDI:: NC_000019.10:1269259:A:
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.1269260del, NC_000019.9:g.1269259del

Select item 14885459205.

rs1488545920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1268068 (GRCh38)
19:1268067 (GRCh37)
Canonical SPDI:: NC_000019.10:1268067:G:A
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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.1268068G>A, NC_000019.9:g.1268067G>A, NR_027271.1:n.759C>T, NM_152480.1:c.*309C>T

Select item 14880630046.

rs1488063004 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1268601 (GRCh38)
19:1268600 (GRCh37)
Canonical SPDI:: NC_000019.10:1268600:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1268601C>T, NC_000019.9:g.1268600C>T

Select item 14876429937.

rs1487642993 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:1269132 (GRCh38)
19:1269131 (GRCh37)
Canonical SPDI:: NC_000019.10:1269131:G:C
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_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.1269132G>C, NC_000019.9:g.1269131G>C

Select item 14871962898.

rs1487196289 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:1270515 (GRCh38)
19:1270514 (GRCh37)
Canonical SPDI:: NC_000019.10:1270514:C:A,NC_000019.10:1270514:C:G
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.1270515C>A, NC_000019.10:g.1270515C>G, NC_000019.9:g.1270514C>A, NC_000019.9:g.1270514C>G

Select item 14867405849.

rs1486740584 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1268406 (GRCh38)
19:1268405 (GRCh37)
Canonical SPDI:: NC_000019.10:1268405:A:G
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.1268406A>G, NC_000019.9:g.1268405A>G

Select item 148569798310.

rs1485697983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1271724 (GRCh38)
19:1271723 (GRCh37)
Canonical SPDI:: NC_000019.10:1271723:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1271724C>T, NC_000019.9:g.1271723C>T

Select item 148551505111.

rs1485515051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1269849 (GRCh38)
19:1269848 (GRCh37)
Canonical SPDI:: NC_000019.10:1269848:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.1269849C>T, NC_000019.9:g.1269848C>T, NR_027271.1:n.412G>A, NM_152480.1:c.292G>A

Select item 148543274912.

rs1485432749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 19:1267155 (GRCh38)
19:1267154 (GRCh37)
Canonical SPDI:: NC_000019.10:1267154:G:C,NC_000019.10:1267154:G:T
Gene:: CIRBP-AS1 (Varview), LOC105372236 (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)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1267155G>C, NC_000019.10:g.1267155G>T, NC_000019.9:g.1267154G>C, NC_000019.9:g.1267154G>T

Select item 148459548513.

rs1484595485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1268150 (GRCh38)
19:1268149 (GRCh37)
Canonical SPDI:: NC_000019.10:1268149:A:G
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: non_coding_transcript_variant,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.1268150A>G, NC_000019.9:g.1268149A>G, NR_027271.1:n.677T>C, NM_152480.1:c.*227T>C

Select item 148426219214.

rs1484262192 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1271498 (GRCh38)
19:1271497 (GRCh37)
Canonical SPDI:: NC_000019.10:1271497:G:A,NC_000019.10:1271497:G:C
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1271498G>A, NC_000019.10:g.1271498G>C, NC_000019.9:g.1271497G>A, NC_000019.9:g.1271497G>C

Select item 148418744215.

rs1484187442 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:1268214 (GRCh38)
19:1268213 (GRCh37)
Canonical SPDI:: NC_000019.10:1268213:G:A,NC_000019.10:1268213:G:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.1268214G>A, NC_000019.10:g.1268214G>T, NC_000019.9:g.1268213G>A, NC_000019.9:g.1268213G>T, NR_027271.1:n.613C>T, NR_027271.1:n.613C>A, NM_152480.1:c.*163C>T, NM_152480.1:c.*163C>A

Select item 148387721916.

rs1483877219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:1269760 (GRCh38)
19:1269759 (GRCh37)
Canonical SPDI:: NC_000019.10:1269759:G:A,NC_000019.10:1269759:G:C
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.1269760G>A, NC_000019.10:g.1269760G>C, NC_000019.9:g.1269759G>A, NC_000019.9:g.1269759G>C

Select item 148387434517.

rs1483874345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1271441 (GRCh38)
19:1271440 (GRCh37)
Canonical SPDI:: NC_000019.10:1271440:G:A
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.1271441G>A, NC_000019.9:g.1271440G>A, NR_023312.3:n.469G>A, NR_023312.2:n.533G>A, NR_023312.1:n.533G>A, NR_023313.3:n.301G>A, NR_023313.2:n.365G>A, NR_023313.1:n.365G>A, NM_001280.3:c.323G>A, NM_001280.2:c.323G>A, XR_001753600.3:n.469G>A, XR_001753600.2:n.469G>A, XR_001753600.1:n.535G>A, NM_001300829.2:c.323G>A, NM_001300829.1:c.323G>A, XM_006722637.2:c.323G>A, XM_006722637.1:c.323G>A, XM_017026237.2:c.323G>A, XM_017026237.1:c.323G>A, NM_001300815.2:c.323G>A, NM_001300815.1:c.323G>A, XR_001753599.2:n.408G>A, XR_001753599.1:n.408G>A, XM_011527668.1:c.323G>A, NP_001271.1:p.Arg108Gln, NP_001287758.1:p.Arg108Gln, XP_006722700.1:p.Arg108Gln, XP_016881726.1:p.Arg108Gln, NP_001287744.1:p.Arg108Gln, XP_011525970.1:p.Arg108Gln

Select item 148316037918.

rs1483160379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1267882 (GRCh38)
19:1267881 (GRCh37)
Canonical SPDI:: NC_000019.10:1267881:G:A
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000057/8 (GnomAD)
A=0.000064/17 (TOPMED)
A=0.000686/2 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000019.10:g.1267882G>A, NC_000019.9:g.1267881G>A, NR_027271.1:n.945C>T, NM_152480.1:c.*495C>T

Select item 148310902419.

rs1483109024 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCCGCAGCGGCACGCCCCTGGGAGGGGGCGGG [Show Flanks]
Chromosome:: 19:1269477 (GRCh38)
19:1269477 (GRCh37)
Canonical SPDI:: NC_000019.10:1269477:GGCGGGGCCGCAGCGGCACGCCCCTGGGAGGGGGCGGG:GGCGGGGCCGCAGCGGCACGCCCCTGGGAGGGGGCGGGGCCGCAGCGGCACGCCCCTGGGAGGGGGCGGG
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: GGCGGGGCCGCAGCGGCACGCCCCTGGGAGGG=0.000123/17 (GnomAD)
GGCGGGGCCGCAGCGGCACGCCCCTGGGAGGG=0.000156/1 (1000Genomes)
GGCGGGGCCGCAGCGGCACGCCCCTGGGAGGG=0.000497/8 (TOMMO)
HGVS:: NC_000019.10:g.1269484_1269515dup, NC_000019.9:g.1269483_1269514dup

Select item 148271148320.

rs1482711483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:1269932 (GRCh38)
19:1269931 (GRCh37)
Canonical SPDI:: NC_000019.10:1269931:G:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1269932G>T, NC_000019.9:g.1269931G>T, NR_027271.1:n.329C>A, NM_152480.1:c.209C>A