SNP Links for Nucleotide (Select 1237938442) - SNP

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Links from Nucleotide

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Select item 14901799161.

rs1490179916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:136044863 (GRCh38)
6:136366001 (GRCh37)
Canonical SPDI:: NC_000006.12:136044862:C:G,NC_000006.12:136044862:C:T
Gene:: PDE7B (Varview), LOC644135 (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 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.136044863C>G, NC_000006.12:g.136044863C>T, NC_000006.11:g.136366001C>G, NC_000006.11:g.136366001C>T, NG_011994.1:g.198168C>G, NG_011994.1:g.198168C>T, NR_149042.1:n.559G>C, NR_149042.1:n.559G>A

Select item 14840202042.

rs1484020204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:136072808 (GRCh38)
6:136393946 (GRCh37)
Canonical SPDI:: NC_000006.12:136072807:T:C
Gene:: PDE7B (Varview), LOC644135 (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 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136072808T>C, NC_000006.11:g.136393946T>C, NG_011994.1:g.226113T>C, NR_149042.1:n.20A>G

Select item 14814359903.

rs1481435990 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:136044578 (GRCh38)
6:136365717 (GRCh37)
Canonical SPDI:: NC_000006.12:136044578:AAAAAA:AAAAAAA
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAA=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.136044584dup, NC_000006.11:g.136365722dup, NG_011994.1:g.197889dup, NR_149042.1:n.843dup

Select item 14800628064.

rs1480062806 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:136044631 (GRCh38)
6:136365769 (GRCh37)
Canonical SPDI:: NC_000006.12:136044627:AGAGA:AGA
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.136044629GA[1], NC_000006.11:g.136365767GA[1], NG_011994.1:g.197934GA[1], NR_149042.1:n.791CT[1]

Select item 14792938775.

rs1479293877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136044781 (GRCh38)
6:136365919 (GRCh37)
Canonical SPDI:: NC_000006.12:136044780:A:G
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136044781A>G, NC_000006.11:g.136365919A>G, NG_011994.1:g.198086A>G, NR_149042.1:n.641T>C

Select item 14791564276.

rs1479156427 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:136044911 (GRCh38)
6:136366049 (GRCh37)
Canonical SPDI:: NC_000006.12:136044910:A:C,NC_000006.12:136044910:A:G
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.136044911A>C, NC_000006.12:g.136044911A>G, NC_000006.11:g.136366049A>C, NC_000006.11:g.136366049A>G, NG_011994.1:g.198216A>C, NG_011994.1:g.198216A>G, NR_149042.1:n.511T>G, NR_149042.1:n.511T>C

Select item 14761796147.

rs1476179614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:136072647 (GRCh38)
6:136393785 (GRCh37)
Canonical SPDI:: NC_000006.12:136072646:T:A
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136072647T>A, NC_000006.11:g.136393785T>A, NG_011994.1:g.225952T>A, NR_149042.1:n.181A>T

Select item 14747335288.

rs1474733528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:136072549 (GRCh38)
6:136393687 (GRCh37)
Canonical SPDI:: NC_000006.12:136072548:C:G
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.136072549C>G, NC_000006.11:g.136393687C>G, NG_011994.1:g.225854C>G, NR_149042.1:n.279G>C

Select item 14665184689.

rs1466518468 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:136072560 (GRCh38)
6:136393698 (GRCh37)
Canonical SPDI:: NC_000006.12:136072559:T:C
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.136072560T>C, NC_000006.11:g.136393698T>C, NG_011994.1:g.225865T>C, NR_149042.1:n.268A>G

Select item 146471234310.

rs1464712343 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:136070250 (GRCh38)
6:136391388 (GRCh37)
Canonical SPDI:: NC_000006.12:136070249:T:C
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000038/10 (TOPMED)
C=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.136070250T>C, NC_000006.11:g.136391388T>C, NG_011994.1:g.223555T>C, NR_149042.1:n.462A>G

Select item 146427580911.

rs1464275809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:136070274 (GRCh38)
6:136391412 (GRCh37)
Canonical SPDI:: NC_000006.12:136070273:G:A,NC_000006.12:136070273:G:C
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.136070274G>A, NC_000006.12:g.136070274G>C, NC_000006.11:g.136391412G>A, NC_000006.11:g.136391412G>C, NG_011994.1:g.223579G>A, NG_011994.1:g.223579G>C, NR_149042.1:n.438C>T, NR_149042.1:n.438C>G

Select item 146146067312.

rs1461460673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:136044771 (GRCh38)
6:136365909 (GRCh37)
Canonical SPDI:: NC_000006.12:136044770:C:A
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.136044771C>A, NC_000006.11:g.136365909C>A, NG_011994.1:g.198076C>A, NR_149042.1:n.651G>T

Select item 146116947713.

rs1461169477 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTG [Show Flanks]
Chromosome:: 6:136044327 (GRCh38)
6:136365466 (GRCh37)
Canonical SPDI:: NC_000006.12:136044327:TGTTG:TGTTGTTG
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTTGTTG=0./0 (ALFA)
TGT=0.000004/1 (TOPMED)
TGT=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.136044330_136044332dup, NC_000006.11:g.136365468_136365470dup, NG_011994.1:g.197635_197637dup, NR_149042.1:n.1092_1094dup

Select item 146023297514.

rs1460232975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136044698 (GRCh38)
6:136365836 (GRCh37)
Canonical SPDI:: NC_000006.12:136044697:A:G
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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_000006.12:g.136044698A>G, NC_000006.11:g.136365836A>G, NG_011994.1:g.198003A>G, NR_149042.1:n.724T>C

Select item 145447574715.

rs1454475747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:136044056 (GRCh38)
6:136365194 (GRCh37)
Canonical SPDI:: NC_000006.12:136044055:C:T
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.136044056C>T, NC_000006.11:g.136365194C>T, NG_011994.1:g.197361C>T, NR_149042.1:n.1366G>A

Select item 145395543316.

rs1453955433 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:136044488 (GRCh38)
6:136365626 (GRCh37)
Canonical SPDI:: NC_000006.12:136044487:T:A
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.136044488T>A, NC_000006.11:g.136365626T>A, NG_011994.1:g.197793T>A, NR_149042.1:n.934A>T

Select item 145330045717.

rs1453300457 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:136072701 (GRCh38)
6:136393839 (GRCh37)
Canonical SPDI:: NC_000006.12:136072700:C:T
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.136072701C>T, NC_000006.11:g.136393839C>T, NG_011994.1:g.226006C>T, NR_149042.1:n.127G>A

Select item 144444920118.

rs1444449201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:136044418 (GRCh38)
6:136365556 (GRCh37)
Canonical SPDI:: NC_000006.12:136044417:C:T
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_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_000006.12:g.136044418C>T, NC_000006.11:g.136365556C>T, NG_011994.1:g.197723C>T, NR_149042.1:n.1004G>A

Select item 144343869919.

rs1443438699 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 6:136044042 (GRCh38)
6:136365180 (GRCh37)
Canonical SPDI:: NC_000006.12:136044041:C:
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000108/2 (ALFA)
-=0.000045/12 (TOPMED)
-=0.000257/36 (GnomAD)
-=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.136044042del, NC_000006.11:g.136365180del, NG_011994.1:g.197347del, NR_149042.1:n.1380del

Select item 144019466420.

rs1440194664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:136072730 (GRCh38)
6:136393868 (GRCh37)
Canonical SPDI:: NC_000006.12:136072729:G:C
Gene:: PDE7B (Varview), LOC644135 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.136072730G>C, NC_000006.11:g.136393868G>C, NG_011994.1:g.226035G>C, NR_149042.1:n.98C>G