AGFG2 - SNP

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Items: 1 to 20 of 11777

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Select item 7417841.

rs741784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:100562302 (GRCh38)
7:100159925 (GRCh37)
Canonical SPDI:: NC_000007.14:100562301:C:A,NC_000007.14:100562301:C:T
Gene:: AGFG2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0008/92 (ALFA)
A=0./0 (HapMap)
T=0.000035/1 (TOMMO)
T=0.000223/1 (Estonian)
T=0.001927/483 (GnomAD_exomes)
T=0.002558/307 (ExAC)
T=0.00463/1 (Qatari)
T=0.007495/38 (1000Genomes)
T=0.008165/1145 (GnomAD)
T=0.00841/2226 (TOPMED)
T=0.009073/118 (GoESP)
HGVS:: NC_000007.14:g.100562302C>A, NC_000007.14:g.100562302C>T, NC_000007.13:g.100159925C>A, NC_000007.13:g.100159925C>T, NM_006076.5:c.921C>A, NM_006076.5:c.921C>T, NM_006076.4:c.921C>A, NM_006076.4:c.921C>T, XM_005250306.3:c.954C>A, XM_005250306.3:c.954C>T, XM_005250306.2:c.954C>A, XM_005250306.2:c.954C>T, XM_005250306.1:c.954C>A, XM_005250306.1:c.954C>T, XM_047420307.1:c.693C>A, XM_047420307.1:c.693C>T, XM_047420308.1:c.219C>A, XM_047420308.1:c.219C>T

Select item 19855232.

rs1985523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:100551914 (GRCh38)
7:100149537 (GRCh37)
Canonical SPDI:: NC_000007.14:100551913:A:G
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.100551914A>G, NC_000007.13:g.100149537A>G

Select item 20183123.

rs2018312 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:100551936 (GRCh38)
7:100149559 (GRCh37)
Canonical SPDI:: NC_000007.14:100551935:A:C
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.100551936A>C, NC_000007.13:g.100149559A>C

Select item 24062434.

rs2406243 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100552355 (GRCh38)
7:100149978 (GRCh37)
Canonical SPDI:: NC_000007.14:100552354:G:A
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.080212/1953 (ALFA)
A=0.033333/20 (NorthernSweden)
A=0.05/2 (GENOME_DK)
A=0.062946/282 (Estonian)
A=0.072546/269 (TWINSUK)
A=0.073171/282 (ALSPAC)
A=0.074148/74 (GoNL)
A=0.077295/387 (1000Genomes)
A=0.089894/23794 (TOPMED)
A=0.090725/12713 (GnomAD)
A=0.091203/141 (HapMap)
A=0.092593/20 (Qatari)
G=0.45122/37 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000007.14:g.100552355G>A, NC_000007.13:g.100149978G>A

Select item 24062445.

rs2406244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:100551504 (GRCh38)
7:100149127 (GRCh37)
Canonical SPDI:: NC_000007.14:100551503:C:G
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100551504C>G, NC_000007.13:g.100149127C>G

Select item 24062456.

rs2406245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100551463 (GRCh38)
7:100149086 (GRCh37)
Canonical SPDI:: NC_000007.14:100551462:G:A
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.00021/29 (GnomAD)
A=0.000468/124 (TOPMED)
A=0.001718/9 (1000Genomes)
A=0.004176/70 (TOMMO)
A=0.007096/13 (Korea1K)
A=0.008898/26 (KOREAN)
HGVS:: NC_000007.14:g.100551463G>A, NC_000007.13:g.100149086G>A

Select item 24062467.

rs2406246 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:100551418 (GRCh38)
7:100149041 (GRCh37)
Canonical SPDI:: NC_000007.14:100551417:T:C,NC_000007.14:100551417:T:G
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.100551418T>C, NC_000007.14:g.100551418T>G, NC_000007.13:g.100149041T>C, NC_000007.13:g.100149041T>G

Select item 24062478.

rs2406247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100551260 (GRCh38)
7:100148883 (GRCh37)
Canonical SPDI:: NC_000007.14:100551259:G:A
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.100551260G>A, NC_000007.13:g.100148883G>A

Select item 24062489.

rs2406248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:100551117 (GRCh38)
7:100148740 (GRCh37)
Canonical SPDI:: NC_000007.14:100551116:T:G
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.100551117T>G, NC_000007.13:g.100148740T>G

Select item 268681310.

rs2686813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:100568445 (GRCh38)
7:100166068 (GRCh37)
Canonical SPDI:: NC_000007.14:100568444:C:G,NC_000007.14:100568444:C:T
Gene:: AGFG2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (HapMap)
T=0.0002/1 (1000Genomes)
HGVS:: NC_000007.14:g.100568445C>G, NC_000007.14:g.100568445C>T, NC_000007.13:g.100166068C>G, NC_000007.13:g.100166068C>T

Select item 268681411.

rs2686814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:100567880 (GRCh38)
7:100165503 (GRCh37)
Canonical SPDI:: NC_000007.14:100567879:G:A
Gene:: AGFG2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (HapMap)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.100567880G>A, NC_000007.13:g.100165503G>A, NM_006076.5:c.*2889G>A, NM_006076.4:c.*2889G>A, XM_005250306.3:c.*2889G>A, XM_005250306.2:c.*2889G>A, XM_047420307.1:c.*2889G>A, XM_047420308.1:c.*2889G>A

Select item 273489712.

rs2734897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 7:100561944 (GRCh38)
7:100159567 (GRCh37)
Canonical SPDI:: NC_000007.14:100561943:A:C,NC_000007.14:100561943:A:G,NC_000007.14:100561943:A:T
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.299269/91125 (ALFA)
T=0./0 (KOREAN)
A=0.14/7 (Siberian)
A=0.158537/78 (SGDP_PRJ)
A=0.166667/6 (PRJEB36033)
A=0.203704/44 (Qatari)
A=0.233087/441 (HapMap)
A=0.261772/36681 (GnomAD)
A=0.262934/4406 (TOMMO)
A=0.263117/1318 (1000Genomes)
A=0.269557/71349 (TOPMED)
A=0.282751/518 (Korea1K)
A=0.285491/1279 (Estonian)
A=0.297505/620 (HGDP_Stanford)
A=0.309524/65 (Vietnamese)
A=0.325/13 (GENOME_DK)
A=0.326667/196 (NorthernSweden)
A=0.326933/1260 (ALSPAC)
A=0.329558/1222 (TWINSUK)
A=0.333667/333 (GoNL)
HGVS:: NC_000007.14:g.100561944A>C, NC_000007.14:g.100561944A>G, NC_000007.14:g.100561944A>T, NC_000007.13:g.100159567A>C, NC_000007.13:g.100159567A>G, NC_000007.13:g.100159567A>T

Select item 273489813.

rs2734898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:100553694 (GRCh38)
7:100151317 (GRCh37)
Canonical SPDI:: NC_000007.14:100553693:G:A,NC_000007.14:100553693:G:C
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (HapMap)
HGVS:: NC_000007.14:g.100553694G>A, NC_000007.14:g.100553694G>C, NC_000007.13:g.100151317G>A, NC_000007.13:g.100151317G>C

Select item 289735614.

rs2897356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:100551553 (GRCh38)
7:100149176 (GRCh37)
Canonical SPDI:: NC_000007.14:100551552:T:C
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.100551553T>C, NC_000007.13:g.100149176T>C

Select item 310759015.

rs3107590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:100555106 (GRCh38)
7:100152729 (GRCh37)
Canonical SPDI:: NC_000007.14:100555105:C:A
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000007.14:g.100555106C>A, NC_000007.13:g.100152729C>A

Select item 311558216.

rs3115582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:100555138 (GRCh38)
7:100152761 (GRCh37)
Canonical SPDI:: NC_000007.14:100555137:C:T
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.100555138C>T, NC_000007.13:g.100152761C>T

Select item 311558317.

rs3115583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100554125 (GRCh38)
7:100151748 (GRCh37)
Canonical SPDI:: NC_000007.14:100554124:G:A,NC_000007.14:100554124:G:T
Gene:: AGFG2 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.100554125G>A, NC_000007.14:g.100554125G>T, NC_000007.13:g.100151748G>A, NC_000007.13:g.100151748G>T, NM_006076.5:c.618G>A, NM_006076.5:c.618G>T, NM_006076.4:c.618G>A, NM_006076.4:c.618G>T, XM_005250306.3:c.618G>A, XM_005250306.3:c.618G>T, XM_005250306.2:c.618G>A, XM_005250306.2:c.618G>T, XM_005250306.1:c.618G>A, XM_005250306.1:c.618G>T, XM_047420307.1:c.357G>A, XM_047420307.1:c.357G>T, NP_006067.3:p.Gln206His, XP_005250363.1:p.Gln206His, XP_047276263.1:p.Gln119His

Select item 311558418.

rs3115584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:100553895 (GRCh38)
7:100151518 (GRCh37)
Canonical SPDI:: NC_000007.14:100553894:G:C
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0./0 (HapMap)
HGVS:: NC_000007.14:g.100553895G>C, NC_000007.13:g.100151518G>C

Select item 311558619.

rs3115586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:100548003 (GRCh38)
7:100145626 (GRCh37)
Canonical SPDI:: NC_000007.14:100548002:C:G
Gene:: AGFG2 (Varview), LOC124901708 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (HapMap)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.100548003C>G, NC_000007.13:g.100145626C>G

Select item 373569020.

rs3735690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:100539608 (GRCh38)
7:100137231 (GRCh37)
Canonical SPDI:: NC_000007.14:100539607:G:A,NC_000007.14:100539607:G:T
Gene:: AGFG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000015/2 (GnomAD)
A=0.001138/2 (Korea1K)
A=0.001432/4 (KOREAN)
A=0.003311/55 (TOMMO)
HGVS:: NC_000007.14:g.100539608G>A, NC_000007.14:g.100539608G>T, NC_000007.13:g.100137231G>A, NC_000007.13:g.100137231G>T

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