SNP Links for Nucleotide (Select 91680847) - SNP

Links from Nucleotide

Items: 1 to 20 of 35

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Select item 14884157361.

rs1488415736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:39567481 (GRCh38)
1:40033153 (GRCh37)
Canonical SPDI:: NC_000001.11:39567480:C:A
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.39567481C>A, NC_000001.10:g.40033153C>A, NR_002983.1:n.30G>T

Select item 14845277192.

rs1484527719 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39567506 (GRCh38)
1:40033178 (GRCh37)
Canonical SPDI:: NC_000001.11:39567505:T:C
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.39567506T>C, NC_000001.10:g.40033178T>C, NR_002983.1:n.5A>G

Select item 14760024993.

rs1476002499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39567386 (GRCh38)
1:40033058 (GRCh37)
Canonical SPDI:: NC_000001.11:39567385:G:A
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000001.11:g.39567386G>A, NC_000001.10:g.40033058G>A, NR_002983.1:n.125C>T

Select item 14716269464.

rs1471626946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39567498 (GRCh38)
1:40033170 (GRCh37)
Canonical SPDI:: NC_000001.11:39567497:G:A
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.39567498G>A, NC_000001.10:g.40033170G>A, NR_002983.1:n.13C>T

Select item 14259830055.

rs1425983005 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:39567403 (GRCh38)
1:40033076 (GRCh37)
Canonical SPDI:: NC_000001.11:39567403:AA:AAA
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39567405dup, NC_000001.10:g.40033077dup, NR_002983.1:n.107dup

Select item 13353336506.

rs1335333650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39567466 (GRCh38)
1:40033138 (GRCh37)
Canonical SPDI:: NC_000001.11:39567465:C:T
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39567466C>T, NC_000001.10:g.40033138C>T, NR_002983.1:n.45G>A

Select item 12760139997.

rs1276013999 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:39567447 (GRCh38)
1:40033119 (GRCh37)
Canonical SPDI:: NC_000001.11:39567446:C:G
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.39567447C>G, NC_000001.10:g.40033119C>G, NR_002983.1:n.64G>C

Select item 12348881298.

rs1234888129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:39567424 (GRCh38)
1:40033096 (GRCh37)
Canonical SPDI:: NC_000001.11:39567423:T:A
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39567424T>A, NC_000001.10:g.40033096T>A, NR_002983.1:n.87A>T

Select item 12307423269.

rs1230742326 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCAC [Show Flanks]
Chromosome:: 1:39567451 (GRCh38)
1:40033124 (GRCh37)
Canonical SPDI:: NC_000001.11:39567451:GCAC:GCACGCAC
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCACGCAC=0./0 (ALFA)
GCAC=0.000004/1 (TOPMED)
GCAC=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39567452_39567455dup, NC_000001.10:g.40033124_40033127dup, NR_002983.1:n.56_59dup

Select item 122245739010.

rs1222457390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39567469 (GRCh38)
1:40033141 (GRCh37)
Canonical SPDI:: NC_000001.11:39567468:A:G
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.39567469A>G, NC_000001.10:g.40033141A>G, NR_002983.1:n.42T>C

Select item 118648209311.

rs1186482093 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39567391 (GRCh38)
1:40033063 (GRCh37)
Canonical SPDI:: NC_000001.11:39567390:A:G
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39567391A>G, NC_000001.10:g.40033063A>G, NR_002983.1:n.120T>C

Select item 118615198612.

rs1186151986 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:39567384 (GRCh38)
1:40033056 (GRCh37)
Canonical SPDI:: NC_000001.11:39567383:G:C
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.39567384G>C, NC_000001.10:g.40033056G>C, NR_002983.1:n.127C>G

Select item 118452934913.

rs1184529349 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:39567510 (GRCh38)
1:40033182 (GRCh37)
Canonical SPDI:: NC_000001.11:39567509:C:A
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39567510C>A, NC_000001.10:g.40033182C>A, NR_002983.1:n.1G>T

Select item 116507866314.

rs1165078663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39567412 (GRCh38)
1:40033084 (GRCh37)
Canonical SPDI:: NC_000001.11:39567411:T:C
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.39567412T>C, NC_000001.10:g.40033084T>C, NR_002983.1:n.99A>G

Select item 105160229315.

rs1051602293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:39567441 (GRCh38)
1:40033113 (GRCh37)
Canonical SPDI:: NC_000001.11:39567440:C:T
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00013/3 (ALFA)
T=0.000022/5 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.39567441C>T, NC_000001.10:g.40033113C>T, NR_002983.1:n.70G>A

Select item 103124741616.

rs1031247416 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:39567504 (GRCh38)
1:40033176 (GRCh37)
Canonical SPDI:: NC_000001.11:39567503:G:A
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.39567504G>A, NC_000001.10:g.40033176G>A, NR_002983.1:n.7C>T

Select item 102908202617.

rs1029082026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:39567395 (GRCh38)
1:40033067 (GRCh37)
Canonical SPDI:: NC_000001.11:39567394:A:G
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.39567395A>G, NC_000001.10:g.40033067A>G, NR_002983.1:n.116T>C

Select item 101229727818.

rs1012297278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:39567477 (GRCh38)
1:40033149 (GRCh37)
Canonical SPDI:: NC_000001.11:39567476:G:A,NC_000001.11:39567476:G:C
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.39567477G>A, NC_000001.11:g.39567477G>C, NC_000001.10:g.40033149G>A, NC_000001.10:g.40033149G>C, NR_002983.1:n.34C>T, NR_002983.1:n.34C>G

Select item 100372855019.

rs1003728550 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:39567491 (GRCh38)
1:40033163 (GRCh37)
Canonical SPDI:: NC_000001.11:39567490:T:C
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.39567491T>C, NC_000001.10:g.40033163T>C, NR_002983.1:n.20A>G

Select item 97454176620.

rs974541766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:39567389 (GRCh38)
1:40033061 (GRCh37)
Canonical SPDI:: NC_000001.11:39567388:G:A,NC_000001.11:39567388:G:C
Gene:: PABPC4 (Varview), SNORA55 (Varview), PABPC4-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.39567389G>A, NC_000001.11:g.39567389G>C, NC_000001.10:g.40033061G>A, NC_000001.10:g.40033061G>C, NR_002983.1:n.122C>T, NR_002983.1:n.122C>G

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Links from Nucleotide

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