SNP Links for Gene (Select 285973) - SNP

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Select item 14909536001.

rs1490953600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:151025247 (GRCh38)
7:150722334 (GRCh37)
Canonical SPDI:: NC_000007.14:151025246:C:A,NC_000007.14:151025246:C:T
Gene:: ATG9B (Varview), LOC124901777 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151025247C>A, NC_000007.14:g.151025247C>T, NC_000007.13:g.150722334C>A, NC_000007.13:g.150722334C>T, NG_030317.1:g.4253G>T, NG_030317.1:g.4253G>A

Select item 14909173582.

rs1490917358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151022024 (GRCh38)
7:150719111 (GRCh37)
Canonical SPDI:: NC_000007.14:151022023:C:T
Gene:: ATG9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.001416/24 (TOMMO)
T=0.001711/5 (KOREAN)
HGVS:: NC_000007.14:g.151022024C>T, NC_000007.13:g.150719111C>T, NG_030317.1:g.7476G>A

Select item 14908627853.

rs1490862785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:151011968 (GRCh38)
7:150709056 (GRCh37)
Canonical SPDI:: NC_000007.14:151011967:C:G
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_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_000007.14:g.151011968C>G, NC_000007.13:g.150709056C>G, NG_011992.1:g.25910C>G, NG_030317.1:g.17532G>C

Select item 14908589654.

rs1490858965 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:151024304 (GRCh38)
7:150721391 (GRCh37)
Canonical SPDI:: NC_000007.14:151024303:G:C
Gene:: ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000023/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151024304G>C, NC_000007.13:g.150721391G>C, NG_030317.1:g.5196C>G, NM_001317056.2:c.120C>G, NM_001317056.1:c.120C>G, NR_133652.1:n.196C>G, NM_173681.5:c.120C>G, XM_011516065.3:c.120C>G, XM_011516065.2:c.252C>G, XM_011516065.1:c.120C>G, XR_002956421.2:n.191C>G, XR_002956421.1:n.711C>G, XR_007060009.1:n.191C>G, NP_001303985.1:p.Cys40Trp, XP_011514367.3:p.Cys40Trp

Select item 14908192105.

rs1490819210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151013375 (GRCh38)
7:150710463 (GRCh37)
Canonical SPDI:: NC_000007.14:151013374:C:T
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151013375C>T, NC_000007.13:g.150710463C>T, NG_011992.1:g.27317C>T, NM_000603.5:c.3251C>T, NM_000603.4:c.3251C>T, NG_030317.1:g.16125G>A, NR_133652.1:n.3411G>A, NR_073169.1:n.2674G>A, NM_173681.5:c.*560G>A, XR_007060009.1:n.3454G>A, NP_000594.2:p.Pro1084Leu

Select item 14906711256.

rs1490671125 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:151011887 (GRCh38)
7:150708975 (GRCh37)
Canonical SPDI:: NC_000007.14:151011886:G:A,NC_000007.14:151011886:G:C,NC_000007.14:151011886:G:T
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.151011887G>A, NC_000007.14:g.151011887G>C, NC_000007.14:g.151011887G>T, NC_000007.13:g.150708975G>A, NC_000007.13:g.150708975G>C, NC_000007.13:g.150708975G>T, NG_011992.1:g.25829G>A, NG_011992.1:g.25829G>C, NG_011992.1:g.25829G>T, NG_030317.1:g.17613C>T, NG_030317.1:g.17613C>G, NG_030317.1:g.17613C>A

Select item 14903925137.

rs1490392513 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:151024894 (GRCh38)
7:150721981 (GRCh37)
Canonical SPDI:: NC_000007.14:151024893:T:A
Gene:: ATG9B (Varview), LOC124901777 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.151024894T>A, NC_000007.13:g.150721981T>A, NG_030317.1:g.4606A>T

Select item 14903786938.

rs1490378693 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151012373 (GRCh38)
7:150709461 (GRCh37)
Canonical SPDI:: NC_000007.14:151012372:C:T
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151012373C>T, NC_000007.13:g.150709461C>T, NG_011992.1:g.26315C>T, NM_000603.5:c.3007C>T, NM_000603.4:c.3007C>T, NG_030317.1:g.17127G>A, NR_133652.1:n.4413G>A, NR_073169.1:n.3676G>A, NM_173681.5:c.*1562G>A, XR_007060009.1:n.4456G>A, NP_000594.2:p.Pro1003Ser

Select item 14903716569.

rs1490371656 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:151012489 (GRCh38)
7:150709577 (GRCh37)
Canonical SPDI:: NC_000007.14:151012488:A:G
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151012489A>G, NC_000007.13:g.150709577A>G, NG_011992.1:g.26431A>G, NG_030317.1:g.17011T>C, NR_133652.1:n.4297T>C, NR_073169.1:n.3560T>C, NM_173681.5:c.*1446T>C, XR_007060009.1:n.4340T>C

Select item 149033974710.

rs1490339747 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151018990 (GRCh38)
7:150716077 (GRCh37)
Canonical SPDI:: NC_000007.14:151018989:T:C
Gene:: ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_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_000007.14:g.151018990T>C, NC_000007.13:g.150716077T>C, NG_030317.1:g.10510A>G, NM_001317056.2:c.1348A>G, NM_001317056.1:c.1348A>G, NR_133652.1:n.1424A>G, NM_173681.5:c.1348A>G, XM_011516065.3:c.1348A>G, XM_011516065.2:c.1480A>G, XM_011516065.1:c.1348A>G, XR_002956421.2:n.1419A>G, XR_002956421.1:n.1939A>G, XR_007060009.1:n.1419A>G, NP_001303985.1:p.Ser450Gly, XP_011514367.3:p.Ser450Gly

Select item 148986483811.

rs1489864838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:151011861 (GRCh38)
7:150708949 (GRCh37)
Canonical SPDI:: NC_000007.14:151011860:T:C
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_downstream_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_000007.14:g.151011861T>C, NC_000007.13:g.150708949T>C, NG_011992.1:g.25803T>C, NG_030317.1:g.17639A>G

Select item 148984772712.

rs1489847727 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:151019437 (GRCh38)
7:150716524 (GRCh37)
Canonical SPDI:: NC_000007.14:151019436:CC:C
Gene:: ATG9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.151019438del, NC_000007.13:g.150716525del, NG_030317.1:g.10063del

Select item 148975988813.

rs1489759888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:151019000 (GRCh38)
7:150716087 (GRCh37)
Canonical SPDI:: NC_000007.14:151018999:G:T
Gene:: ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000117/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.151019000G>T, NC_000007.13:g.150716087G>T, NG_030317.1:g.10500C>A, NM_001317056.2:c.1338C>A, NM_001317056.1:c.1338C>A, NR_133652.1:n.1414C>A, NM_173681.5:c.1338C>A, XM_011516065.3:c.1338C>A, XM_011516065.2:c.1470C>A, XM_011516065.1:c.1338C>A, XR_002956421.2:n.1409C>A, XR_002956421.1:n.1929C>A, XR_007060009.1:n.1409C>A, NP_001303985.1:p.Asn446Lys, XP_011514367.3:p.Asn446Lys

Select item 148953915814.

rs1489539158 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151015947 (GRCh38)
7:150713035 (GRCh37)
Canonical SPDI:: NC_000007.14:151015946:C:T
Gene:: ATG9B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151015947C>T, NC_000007.13:g.150713035C>T, NG_011992.1:g.29889C>T, NG_030317.1:g.13553G>A, NM_001317056.2:c.2724G>A, NM_001317056.1:c.2724G>A, NR_133652.1:n.2800G>A, NR_073169.1:n.1652G>A, NM_173681.5:c.2724G>A, XM_011516065.3:c.2724G>A, XM_011516065.2:c.2856G>A, XM_011516065.1:c.2724G>A, XR_002956421.2:n.2795G>A, XR_002956421.1:n.3315G>A, XR_007060009.1:n.2795G>A

Select item 148946898715.

rs1489468987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151016100 (GRCh38)
7:150713188 (GRCh37)
Canonical SPDI:: NC_000007.14:151016099:C:T
Gene:: ATG9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.151016100C>T, NC_000007.13:g.150713188C>T, NG_011992.1:g.30042C>T, NG_030317.1:g.13400G>A

Select item 148931619316.

rs1489316193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:151016524 (GRCh38)
7:150713612 (GRCh37)
Canonical SPDI:: NC_000007.14:151016523:A:C
Gene:: ATG9B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.151016524A>C, NC_000007.13:g.150713612A>C, NG_011992.1:g.30466A>C, NG_030317.1:g.12976T>G, NM_001317056.2:c.2427T>G, NM_001317056.1:c.2427T>G, NR_133652.1:n.2503T>G, NR_073169.1:n.1355T>G, NM_173681.5:c.2427T>G, XM_011516065.3:c.2427T>G, XM_011516065.2:c.2559T>G, XM_011516065.1:c.2427T>G, XR_002956421.2:n.2498T>G, XR_002956421.1:n.3018T>G, XR_007060009.1:n.2498T>G

Select item 148922870317.

rs1489228703 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:151016357 (GRCh38)
7:150713445 (GRCh37)
Canonical SPDI:: NC_000007.14:151016356:C:T
Gene:: ATG9B (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_000007.14:g.151016357C>T, NC_000007.13:g.150713445C>T, NG_011992.1:g.30299C>T, NG_030317.1:g.13143G>A

Select item 148866824218.

rs1488668242 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:151022822 (GRCh38)
7:150719909 (GRCh37)
Canonical SPDI:: NC_000007.14:151022821:G:A,NC_000007.14:151022821:G:T
Gene:: ATG9B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000248/4 (TOMMO)
HGVS:: NC_000007.14:g.151022822G>A, NC_000007.14:g.151022822G>T, NC_000007.13:g.150719909G>A, NC_000007.13:g.150719909G>T, NG_030317.1:g.6678C>T, NG_030317.1:g.6678C>A

Select item 148816713019.

rs1488167130 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:151024274 (GRCh38)
7:150721361 (GRCh37)
Canonical SPDI:: NC_000007.14:151024273:G:A,NC_000007.14:151024273:G:T
Gene:: ATG9B (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.151024274G>A, NC_000007.14:g.151024274G>T, NC_000007.13:g.150721361G>A, NC_000007.13:g.150721361G>T, NG_030317.1:g.5226C>T, NG_030317.1:g.5226C>A, NM_001317056.2:c.150C>T, NM_001317056.2:c.150C>A, NM_001317056.1:c.150C>T, NM_001317056.1:c.150C>A, NR_133652.1:n.226C>T, NR_133652.1:n.226C>A, NM_173681.5:c.150C>T, NM_173681.5:c.150C>A, XM_011516065.3:c.150C>T, XM_011516065.3:c.150C>A, XM_011516065.2:c.282C>T, XM_011516065.2:c.282C>A, XM_011516065.1:c.150C>T, XM_011516065.1:c.150C>A, XR_002956421.2:n.221C>T, XR_002956421.2:n.221C>A, XR_002956421.1:n.741C>T, XR_002956421.1:n.741C>A, XR_007060009.1:n.221C>T, XR_007060009.1:n.221C>A

Select item 148794875820.

rs1487948758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:151012760 (GRCh38)
7:150709848 (GRCh37)
Canonical SPDI:: NC_000007.14:151012759:G:A
Gene:: NOS3 (Varview), ATG9B (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.151012760G>A, NC_000007.13:g.150709848G>A, NG_011992.1:g.26702G>A, NG_030317.1:g.16740C>T, NR_133652.1:n.4026C>T, NR_073169.1:n.3289C>T, NM_173681.5:c.*1175C>T, XR_007060009.1:n.4069C>T

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