SNP Links for Gene (Select 53632) - SNP

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Select item 14914986121.

rs1491498612 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:218825335 (GRCh38)
2:219690058 (GRCh37)
Canonical SPDI:: NC_000002.12:218825334:CA:
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.218825335_218825336del, NC_000002.11:g.219690058_219690059del, NG_016458.1:g.11454_11455del

Select item 14910943542.

rs1491094354 has merged into rs3078328 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:218825348 (GRCh38)
2:219690071 (GRCh37)
Canonical SPDI:: NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:218825335:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218825348_218825355del, NC_000002.12:g.218825352_218825355del, NC_000002.12:g.218825353_218825355del, NC_000002.12:g.218825354_218825355del, NC_000002.12:g.218825355del, NC_000002.12:g.218825355dup, NC_000002.12:g.218825354_218825355dup, NC_000002.12:g.218825353_218825355dup, NC_000002.12:g.218825352_218825355dup, NC_000002.12:g.218825351_218825355dup, NC_000002.12:g.218825350_218825355dup, NC_000002.11:g.219690071_219690078del, NC_000002.11:g.219690075_219690078del, NC_000002.11:g.219690076_219690078del, NC_000002.11:g.219690077_219690078del, NC_000002.11:g.219690078del, NC_000002.11:g.219690078dup, NC_000002.11:g.219690077_219690078dup, NC_000002.11:g.219690076_219690078dup, NC_000002.11:g.219690075_219690078dup, NC_000002.11:g.219690074_219690078dup, NC_000002.11:g.219690073_219690078dup, NG_016458.1:g.11447_11454del, NG_016458.1:g.11451_11454del, NG_016458.1:g.11452_11454del, NG_016458.1:g.11453_11454del, NG_016458.1:g.11454del, NG_016458.1:g.11454dup, NG_016458.1:g.11453_11454dup, NG_016458.1:g.11452_11454dup, NG_016458.1:g.11451_11454dup, NG_016458.1:g.11450_11454dup, NG_016458.1:g.11449_11454dup

Select item 14910016673.

rs1491001667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218822009 (GRCh38)
2:219686732 (GRCh37)
Canonical SPDI:: NC_000002.12:218822008:C:T
Gene:: PRKAG3 (Varview), MIR9500 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,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_000002.12:g.218822009C>T, NC_000002.11:g.219686732C>T, NG_016458.1:g.14781G>A

Select item 14901858354.

rs1490185835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218822490 (GRCh38)
2:219687213 (GRCh37)
Canonical SPDI:: NC_000002.12:218822489:G:A
Gene:: PRKAG3 (Varview), MIR9500 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_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_000002.12:g.218822490G>A, NC_000002.11:g.219687213G>A, NG_016458.1:g.14300C>T, NM_017431.4:c.*703C>T, NM_017431.3:c.*703C>T, NM_017431.2:c.*703C>T

Select item 14899936065.

rs1489993606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218830962 (GRCh38)
2:219695685 (GRCh37)
Canonical SPDI:: NC_000002.12:218830961:T:C
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.218830962T>C, NC_000002.11:g.219695685T>C, NG_016458.1:g.5828A>G

Select item 14899698186.

rs1489969818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218821435 (GRCh38)
2:219686158 (GRCh37)
Canonical SPDI:: NC_000002.12:218821434:T:C
Gene:: MIR9500 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.218821435T>C, NC_000002.11:g.219686158T>C, NG_016458.1:g.15355A>G

Select item 14896448527.

rs1489644852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:218823121 (GRCh38)
2:219687844 (GRCh37)
Canonical SPDI:: NC_000002.12:218823120:C:G,NC_000002.12:218823120:C:T
Gene:: PRKAG3 (Varview), MIR9500 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218823121C>G, NC_000002.12:g.218823121C>T, NC_000002.11:g.219687844C>G, NC_000002.11:g.219687844C>T, NG_016458.1:g.13669G>C, NG_016458.1:g.13669G>A, NG_082834.1:g.360C>G, NG_082834.1:g.360C>T, NR_128707.1:n.32C>G, NR_128707.1:n.32C>T

Select item 14893599958.

rs1489359995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:218831402 (GRCh38)
2:219696125 (GRCh37)
Canonical SPDI:: NC_000002.12:218831401:G:A,NC_000002.12:218831401:G:C
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218831402G>A, NC_000002.12:g.218831402G>C, NC_000002.11:g.219696125G>A, NC_000002.11:g.219696125G>C, NG_016458.1:g.5388C>T, NG_016458.1:g.5388C>G

Select item 14893586529.

rs1489358652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:218831847 (GRCh38)
2:219696570 (GRCh37)
Canonical SPDI:: NC_000002.12:218831846:G:T
Gene:: PRKAG3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.218831847G>T, NC_000002.11:g.219696570G>T, NG_016458.1:g.4943C>A

Select item 148884771610.

rs1488847716 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218831335 (GRCh38)
2:219696058 (GRCh37)
Canonical SPDI:: NC_000002.12:218831334:C:T
Gene:: PRKAG3 (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.218831335C>T, NC_000002.11:g.219696058C>T, NG_016458.1:g.5455G>A

Select item 148837814711.

rs1488378147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:218830394 (GRCh38)
2:219695117 (GRCh37)
Canonical SPDI:: NC_000002.12:218830393:G:A
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.218830394G>A, NC_000002.11:g.219695117G>A, NG_016458.1:g.6396C>T

Select item 148794787812.

rs1487947878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:218833522 (GRCh38)
2:219698245 (GRCh37)
Canonical SPDI:: NC_000002.12:218833521:C:G
Gene:: PRKAG3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218833522C>G, NC_000002.11:g.219698245C>G, NG_016458.1:g.3268G>C

Select item 148791769913.

rs1487917699 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:218832370 (GRCh38)
2:219697094 (GRCh37)
Canonical SPDI:: NC_000002.12:218832370:GTGT:GTGTGT
Gene:: PRKAG3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.218832371GT[3], NC_000002.11:g.219697094GT[3], NG_016458.1:g.4416AC[3]

Select item 148787384914.

rs1487873849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:218833146 (GRCh38)
2:219697869 (GRCh37)
Canonical SPDI:: NC_000002.12:218833145:T:C
Gene:: PRKAG3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.218833146T>C, NC_000002.11:g.219697869T>C, NG_016458.1:g.3644A>G

Select item 148755678715.

rs1487556787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:218825926 (GRCh38)
2:219690649 (GRCh37)
Canonical SPDI:: NC_000002.12:218825925:T:G
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.218825926T>G, NC_000002.11:g.219690649T>G, NG_016458.1:g.10864A>C

Select item 148734120216.

rs1487341202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:218824645 (GRCh38)
2:219689368 (GRCh37)
Canonical SPDI:: NC_000002.12:218824644:C:T
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218824645C>T, NC_000002.11:g.219689368C>T, NG_016458.1:g.12145G>A

Select item 148727196517.

rs1487271965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:218826919 (GRCh38)
2:219691642 (GRCh37)
Canonical SPDI:: NC_000002.12:218826918:G:A,NC_000002.12:218826918:G:T
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.218826919G>A, NC_000002.12:g.218826919G>T, NC_000002.11:g.219691642G>A, NC_000002.11:g.219691642G>T, NG_016458.1:g.9871C>T, NG_016458.1:g.9871C>A

Select item 148699511918.

rs1486995119 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:218832971 (GRCh38)
2:219697694 (GRCh37)
Canonical SPDI:: NC_000002.12:218832970:G:C
Gene:: PRKAG3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000002.12:g.218832971G>C, NC_000002.11:g.219697694G>C, NG_016458.1:g.3819C>G

Select item 148672488819.

rs1486724888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:218825972 (GRCh38)
2:219690695 (GRCh37)
Canonical SPDI:: NC_000002.12:218825971:G:C,NC_000002.12:218825971:G:T
Gene:: PRKAG3 (Varview)
Functional Consequence:: 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_000002.12:g.218825972G>C, NC_000002.12:g.218825972G>T, NC_000002.11:g.219690695G>C, NC_000002.11:g.219690695G>T, NG_016458.1:g.10818C>G, NG_016458.1:g.10818C>A

Select item 148669124120.

rs1486691241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:218825490 (GRCh38)
2:219690213 (GRCh37)
Canonical SPDI:: NC_000002.12:218825489:C:A
Gene:: PRKAG3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.000546/1 (Korea1K)
HGVS:: NC_000002.12:g.218825490C>A, NC_000002.11:g.219690213C>A, NG_016458.1:g.11300G>T

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