SNP Links for Gene (Select 644090) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1680

<< First< Prev

Page of 84

Next >Last >>

Select item 14912653101.

rs1491265310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 7:151811273 (GRCh38)
7:151508359 (GRCh37)
Canonical SPDI:: NC_000007.14:151811271:TAT:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.151811273_151811274del, NC_000007.13:g.151508359_151508360del, NG_007486.2:g.70959_70960del

Select item 14911786492.

rs1491178649 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:151811272 (GRCh38)
7:151508359 (GRCh37)
Canonical SPDI:: NC_000007.14:151811272:A:AA
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151811273dup, NC_000007.13:g.151508359dup, NG_007486.2:g.70959dup

Select item 14909889593.

rs1490988959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151806513 (GRCh38)
7:151503599 (GRCh37)
Canonical SPDI:: NC_000007.14:151806512:C:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_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_000007.14:g.151806513C>T, NC_000007.13:g.151503599C>T, NG_007486.2:g.75719G>A, NM_001354885.2:c.-383C>T, NR_171033.1:n.176C>T

Select item 14909531574.

rs1490953157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151808777 (GRCh38)
7:151505863 (GRCh37)
Canonical SPDI:: NC_000007.14:151808776:G:A
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151808777G>A, NC_000007.13:g.151505863G>A, NG_007486.2:g.73455C>T

Select item 14907544705.

rs1490754470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151808012 (GRCh38)
7:151505098 (GRCh37)
Canonical SPDI:: NC_000007.14:151808011:T:C
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151808012T>C, NC_000007.13:g.151505098T>C, NG_007486.2:g.74220A>G

Select item 14902121116.

rs1490212111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151806553 (GRCh38)
7:151503639 (GRCh37)
Canonical SPDI:: NC_000007.14:151806552:G:A
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.151806553G>A, NC_000007.13:g.151503639G>A, NG_007486.2:g.75679C>T, NM_001354885.2:c.-343G>A, NR_171033.1:n.216G>A

Select item 14901073977.

rs1490107397 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151807484 (GRCh38)
7:151504570 (GRCh37)
Canonical SPDI:: NC_000007.14:151807483:C:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.151807484C>T, NC_000007.13:g.151504570C>T, NG_007486.2:g.74748G>A, NM_001354885.2:c.254C>T, NR_171033.1:n.812C>T, NM_001354885.1:c.254C>T

Select item 14898156038.

rs1489815603 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAGCTCCGAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14897906329.

rs1489790632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151807670 (GRCh38)
7:151504756 (GRCh37)
Canonical SPDI:: NC_000007.14:151807669:C:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000015/2 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.151807670C>T, NC_000007.13:g.151504756C>T, NG_007486.2:g.74562G>A

Select item 148883895710.

rs1488838957 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151809474 (GRCh38)
7:151506560 (GRCh37)
Canonical SPDI:: NC_000007.14:151809473:C:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.151809474C>T, NC_000007.13:g.151506560C>T, NG_007486.2:g.72758G>A, NM_001354885.2:c.*214C>T, NR_171033.1:n.1189C>T, NM_001354885.1:c.*214C>T

Select item 148795105811.

rs1487951058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151805445 (GRCh38)
7:151502531 (GRCh37)
Canonical SPDI:: NC_000007.14:151805444:C:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.151805445C>T, NC_000007.13:g.151502531C>T, NG_007486.2:g.76787G>A

Select item 148741262212.

rs1487412622 has merged into rs923970541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TTT,TTTTT [Show Flanks]
Chromosome:: 7:151808313 (GRCh38)
7:151505399 (GRCh37)
Canonical SPDI:: NC_000007.14:151808307:TTTTTTTTT:TTTTT,NC_000007.14:151808307:TTTTTTTTT:TTTTTTTT,NC_000007.14:151808307:TTTTTTTTT:TTTTTTTTTT
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.151808313_151808316del, NC_000007.14:g.151808316del, NC_000007.14:g.151808316dup, NC_000007.13:g.151505399_151505402del, NC_000007.13:g.151505402del, NC_000007.13:g.151505402dup, NG_007486.2:g.73921_73924del, NG_007486.2:g.73924del, NG_007486.2:g.73924dup

Select item 148698828213.

rs1486988282 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:151807747 (GRCh38)
7:151504833 (GRCh37)
Canonical SPDI:: NC_000007.14:151807746:A:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151807747A>T, NC_000007.13:g.151504833A>T, NG_007486.2:g.74485T>A

Select item 148667100514.

rs1486671005 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:151804239 (GRCh38)
7:151501325 (GRCh37)
Canonical SPDI:: NC_000007.14:151804238:C:A,NC_000007.14:151804238:C:T
Gene:: PRKAG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.151804239C>A, NC_000007.14:g.151804239C>T, NC_000007.13:g.151501325C>A, NC_000007.13:g.151501325C>T, NG_007486.2:g.77993G>T, NG_007486.2:g.77993G>A

Select item 148655237515.

rs1486552375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151810927 (GRCh38)
7:151508013 (GRCh37)
Canonical SPDI:: NC_000007.14:151810926:A:G
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151810927A>G, NC_000007.13:g.151508013A>G, NG_007486.2:g.71305T>C

Select item 148538980016.

rs1485389800 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:151810050 (GRCh38)
7:151507136 (GRCh37)
Canonical SPDI:: NC_000007.14:151810049:T:G
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.151810050T>G, NC_000007.13:g.151507136T>G, NG_007486.2:g.72182A>C, NM_001354885.2:c.*790T>G, NR_171033.1:n.1765T>G, NM_001354885.1:c.*790T>G

Select item 148514885817.

rs1485148858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151806443 (GRCh38)
7:151503529 (GRCh37)
Canonical SPDI:: NC_000007.14:151806442:C:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,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_000007.14:g.151806443C>T, NC_000007.13:g.151503529C>T, NG_007486.2:g.75789G>A, NM_001354885.2:c.-453C>T, NR_171033.1:n.106C>T

Select item 148395049218.

rs1483950492 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:151810988 (GRCh38)
7:151508074 (GRCh37)
Canonical SPDI:: NC_000007.14:151810987:G:T
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151810988G>T, NC_000007.13:g.151508074G>T, NG_007486.2:g.71244C>A

Select item 148363943519.

rs1483639435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151809014 (GRCh38)
7:151506100 (GRCh37)
Canonical SPDI:: NC_000007.14:151809013:C:G
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.151809014C>G, NC_000007.13:g.151506100C>G, NG_007486.2:g.73218G>C

Select item 148352861520.

rs1483528615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:151806723 (GRCh38)
7:151503809 (GRCh37)
Canonical SPDI:: NC_000007.14:151806722:T:A,NC_000007.14:151806722:T:C
Gene:: PRKAG2 (Varview), PRKAG2-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.151806723T>A, NC_000007.14:g.151806723T>C, NC_000007.13:g.151503809T>A, NC_000007.13:g.151503809T>C, NG_007486.2:g.75509A>T, NG_007486.2:g.75509A>G, NM_001354885.2:c.-173T>A, NM_001354885.2:c.-173T>C, NR_171033.1:n.386T>A, NR_171033.1:n.386T>C, NM_001354885.1:c.-173T>A, NM_001354885.1:c.-173T>C

<< First< Prev

Page of 84

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 644090) (1680)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: