SNP Links for Nucleotide (Select 224586830) - SNP

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Links from Nucleotide

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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 14885459202.

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 14855150513.

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 14845954854.

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 14841874425.

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 14831603796.

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 14827114837.

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

Select item 14812935138.

rs1481293513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:1270015 (GRCh38)
19:1270014 (GRCh37)
Canonical SPDI:: NC_000019.10:1270014:G:A,NC_000019.10:1270014:G:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1270015G>A, NC_000019.10:g.1270015G>T, NC_000019.9:g.1270014G>A, NC_000019.9:g.1270014G>T, NR_027271.1:n.246C>T, NR_027271.1:n.246C>A, NM_152480.1:c.126C>T, NM_152480.1:c.126C>A

Select item 14811506169.

rs1481150616 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 19:1268114 (GRCh38)
19:1268113 (GRCh37)
Canonical SPDI:: NC_000019.10:1268112:TGT:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1268114_1268115del, NC_000019.9:g.1268113_1268114del, NR_027271.1:n.713_714del, NM_152480.1:c.*263_*264del

Select item 148073944410.

rs1480739444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1270222 (GRCh38)
19:1270221 (GRCh37)
Canonical SPDI:: NC_000019.10:1270221:C: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)
HGVS:: NC_000019.10:g.1270222C>T, NC_000019.9:g.1270221C>T, NR_027271.1:n.39G>A, NM_152480.1:c.-82G>A

Select item 147512163611.

rs1475121636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1270076 (GRCh38)
19:1270075 (GRCh37)
Canonical SPDI:: NC_000019.10:1270075:T:C
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1270076T>C, NC_000019.9:g.1270075T>C, NR_027271.1:n.185A>G, NM_152480.1:c.65A>G

Select item 147353905712.

rs1473539057 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:1267627 (GRCh38)
19:1267626 (GRCh37)
Canonical SPDI:: NC_000019.10:1267626:C:G,NC_000019.10:1267626:C: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:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.1267627C>G, NC_000019.10:g.1267627C>T, NC_000019.9:g.1267626C>G, NC_000019.9:g.1267626C>T, NR_027271.1:n.1200G>C, NR_027271.1:n.1200G>A, NM_152480.1:c.*750G>C, NM_152480.1:c.*750G>A

Select item 147108636013.

rs1471086360 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1269967 (GRCh38)
19:1269966 (GRCh37)
Canonical SPDI:: NC_000019.10:1269966:C: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=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1269967C>T, NC_000019.9:g.1269966C>T, NR_027271.1:n.294G>A, NM_152480.1:c.174G>A

Select item 146896090714.

rs1468960907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1267957 (GRCh38)
19:1267956 (GRCh37)
Canonical SPDI:: NC_000019.10:1267956: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=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.1267957G>A, NC_000019.9:g.1267956G>A, NR_027271.1:n.870C>T, NM_152480.1:c.*420C>T

Select item 146536645115.

rs1465366451 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:1268015 (GRCh38)
19:1268014 (GRCh37)
Canonical SPDI:: NC_000019.10:1268014:T:
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000091/24 (TOPMED)
HGVS:: NC_000019.10:g.1268015del, NC_000019.9:g.1268014del, NR_027271.1:n.812del, NM_152480.1:c.*362del

Select item 146506057616.

rs1465060576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1270120 (GRCh38)
19:1270119 (GRCh37)
Canonical SPDI:: NC_000019.10:1270119:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1270120C>T, NC_000019.9:g.1270119C>T, NR_027271.1:n.141G>A, NM_152480.1:c.21G>A

Select item 146182347917.

rs1461823479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1270146 (GRCh38)
19:1270145 (GRCh37)
Canonical SPDI:: NC_000019.10:1270145:C:A,NC_000019.10:1270145:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1270146C>A, NC_000019.10:g.1270146C>T, NC_000019.9:g.1270145C>A, NC_000019.9:g.1270145C>T, NR_027271.1:n.115G>T, NR_027271.1:n.115G>A, NM_152480.1:c.-6G>T, NM_152480.1:c.-6G>A

Select item 145950392018.

rs1459503920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1268293 (GRCh38)
19:1268292 (GRCh37)
Canonical SPDI:: NC_000019.10:1268292:C:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1268293C>T, NC_000019.9:g.1268292C>T, NR_027271.1:n.534G>A, NM_152480.1:c.*84G>A

Select item 145950344419.

rs1459503444 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:1267964 (GRCh38)
19:1267963 (GRCh37)
Canonical SPDI:: NC_000019.10:1267963:T:A,NC_000019.10:1267963:T:G
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.001638/3 (Korea1K)
HGVS:: NC_000019.10:g.1267964T>A, NC_000019.10:g.1267964T>G, NC_000019.9:g.1267963T>A, NC_000019.9:g.1267963T>G, NR_027271.1:n.863A>T, NR_027271.1:n.863A>C, NM_152480.1:c.*413A>T, NM_152480.1:c.*413A>C

Select item 145942971420.

rs1459429714 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:1267488 (GRCh38)
19:1267487 (GRCh37)
Canonical SPDI:: NC_000019.10:1267487:G:T
Gene:: CIRBP (Varview), CIRBP-AS1 (Varview), LOC105372236 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.1267488G>T, NC_000019.9:g.1267487G>T, NR_027271.1:n.1339C>A, NM_152480.1:c.*889C>A