SNP Links for Gene (Select 23519) - SNP

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Select item 14911912961.

rs1491191296 has merged into rs34351264 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 12:48470691 (GRCh38)
12:48864474 (GRCh37)
Canonical SPDI:: NC_000012.12:48470683:TTTTTTTTT:TTTTTTT,NC_000012.12:48470683:TTTTTTTTT:TTTTTTTT,NC_000012.12:48470683:TTTTTTTTT:TTTTTTTTTT,NC_000012.12:48470683:TTTTTTTTT:TTTTTTTTTTT
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.04889/537 (ALFA)
-=0.31218/1461 (1000Genomes)
HGVS:: NC_000012.12:g.48470691_48470692del, NC_000012.12:g.48470692del, NC_000012.12:g.48470692dup, NC_000012.12:g.48470691_48470692dup, NC_000012.11:g.48864474_48864475del, NC_000012.11:g.48864475del, NC_000012.11:g.48864475dup, NC_000012.11:g.48864474_48864475dup

Select item 14903706672.

rs1490370667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48472254 (GRCh38)
12:48866037 (GRCh37)
Canonical SPDI:: NC_000012.12:48472253:G:A
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.48472254G>A, NC_000012.11:g.48866037G>A

Select item 14903180333.

rs1490318033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:48471265 (GRCh38)
12:48865048 (GRCh37)
Canonical SPDI:: NC_000012.12:48471264:A:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00034/1 (KOREAN)
HGVS:: NC_000012.12:g.48471265A>T, NC_000012.11:g.48865048A>T

Select item 14869224834.

rs1486922483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48472784 (GRCh38)
12:48866567 (GRCh37)
Canonical SPDI:: NC_000012.12:48472783:A:G
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48472784A>G, NC_000012.11:g.48866567A>G, NM_012404.3:c.120A>G, NM_012404.2:c.120A>G

Select item 14845906255.

rs1484590625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48470676 (GRCh38)
12:48864459 (GRCh37)
Canonical SPDI:: NC_000012.12:48470675:C:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.48470676C>T, NC_000012.11:g.48864459C>T

Select item 14836144896.

rs1483614489 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48472395 (GRCh38)
12:48866178 (GRCh37)
Canonical SPDI:: NC_000012.12:48472394:C:T
Gene:: ANP32D (Varview), C12orf54 (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=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48472395C>T, NC_000012.11:g.48866178C>T

Select item 14826969097.

rs1482696909 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48473493 (GRCh38)
12:48867276 (GRCh37)
Canonical SPDI:: NC_000012.12:48473492:C:A
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48473493C>A, NC_000012.11:g.48867276C>A, NM_012404.3:c.*433C>A

Select item 14826045968.

rs1482604596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48473396 (GRCh38)
12:48867179 (GRCh37)
Canonical SPDI:: NC_000012.12:48473395:G:A
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48473396G>A, NC_000012.11:g.48867179G>A, NM_012404.3:c.*336G>A

Select item 14814572019.

rs1481457201 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48471161 (GRCh38)
12:48864944 (GRCh37)
Canonical SPDI:: NC_000012.12:48471160:A:G
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48471161A>G, NC_000012.11:g.48864944A>G

Select item 148144617210.

rs1481446172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48470910 (GRCh38)
12:48864693 (GRCh37)
Canonical SPDI:: NC_000012.12:48470909:C:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48470910C>T, NC_000012.11:g.48864693C>T

Select item 148033069111.

rs1480330691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48471576 (GRCh38)
12:48865359 (GRCh37)
Canonical SPDI:: NC_000012.12:48471575:C:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48471576C>T, NC_000012.11:g.48865359C>T

Select item 148023992812.

rs1480239928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48471118 (GRCh38)
12:48864901 (GRCh37)
Canonical SPDI:: NC_000012.12:48471117:C:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.48471118C>T, NC_000012.11:g.48864901C>T

Select item 147948716713.

rs1479487167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:48471754 (GRCh38)
12:48865537 (GRCh37)
Canonical SPDI:: NC_000012.12:48471753:G:A,NC_000012.12:48471753:G:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48471754G>A, NC_000012.12:g.48471754G>T, NC_000012.11:g.48865537G>A, NC_000012.11:g.48865537G>T

Select item 147894435214.

rs1478944352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48471844 (GRCh38)
12:48865627 (GRCh37)
Canonical SPDI:: NC_000012.12:48471843:G:A
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48471844G>A, NC_000012.11:g.48865627G>A

Select item 147648572815.

rs1476485728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48472733 (GRCh38)
12:48866516 (GRCh37)
Canonical SPDI:: NC_000012.12:48472732:C:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48472733C>T, NC_000012.11:g.48866516C>T, NM_012404.3:c.69C>T, NM_012404.2:c.69C>T

Select item 147461398716.

rs1474613987 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 12:48472265 (GRCh38)
12:48866048 (GRCh37)
Canonical SPDI:: NC_000012.12:48472264:A:
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48472265del, NC_000012.11:g.48866048del

Select item 147326682217.

rs1473266822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48472157 (GRCh38)
12:48865940 (GRCh37)
Canonical SPDI:: NC_000012.12:48472156:T:C
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_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_000012.12:g.48472157T>C, NC_000012.11:g.48865940T>C

Select item 147226908718.

rs1472269087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48472965 (GRCh38)
12:48866748 (GRCh37)
Canonical SPDI:: NC_000012.12:48472964:A:G
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48472965A>G, NC_000012.11:g.48866748A>G, NM_012404.3:c.301A>G, NM_012404.2:c.301A>G, NP_036536.2:p.Lys101Glu

Select item 147153717719.

rs1471537177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 12:48473480 (GRCh38)
12:48867263 (GRCh37)
Canonical SPDI:: NC_000012.12:48473479:C:A,NC_000012.12:48473479:C:G
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.48473480C>A, NC_000012.12:g.48473480C>G, NC_000012.11:g.48867263C>A, NC_000012.11:g.48867263C>G, NM_012404.3:c.*420C>A, NM_012404.3:c.*420C>G

Select item 147111670720.

rs1471116707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48471032 (GRCh38)
12:48864815 (GRCh37)
Canonical SPDI:: NC_000012.12:48471031:C:T
Gene:: ANP32D (Varview), C12orf54 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.48471032C>T, NC_000012.11:g.48864815C>T

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