SNP Links for Gene (Select 27099) - SNP

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Select item 14907921901.

rs1490792190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:127997438 (GRCh38)
7:127637491 (GRCh37)
Canonical SPDI:: NC_000007.14:127997437:C:A
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.127997438C>A, NC_000007.13:g.127637491C>A, NG_051199.1:g.350450C>A

Select item 14893344052.

rs1489334405 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:127998708 (GRCh38)
7:127638761 (GRCh37)
Canonical SPDI:: NC_000007.14:127998707:A:G
Gene:: SND1 (Varview), SND1-IT1 (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_000007.14:g.127998708A>G, NC_000007.13:g.127638761A>G, NG_051199.1:g.351720A>G, NM_014411.2:c.*682A>G, NR_027330.1:n.1200A>G, NM_014411.1:c.*682A>G

Select item 14891618833.

rs1489161883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:127997407 (GRCh38)
7:127637460 (GRCh37)
Canonical SPDI:: NC_000007.14:127997406:A:C
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127997407A>C, NC_000007.13:g.127637460A>C, NG_051199.1:g.350419A>C

Select item 14888755844.

rs1488875584 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:127999187 (GRCh38)
7:127639240 (GRCh37)
Canonical SPDI:: NC_000007.14:127999186:T:G
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.127999187T>G, NC_000007.13:g.127639240T>G, NG_051199.1:g.352199T>G, NM_014411.2:c.*1161T>G, NR_027330.1:n.1679T>G, NM_014411.1:c.*1161T>G

Select item 14882250095.

rs1488225009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:127997730 (GRCh38)
7:127637783 (GRCh37)
Canonical SPDI:: NC_000007.14:127997729:C:T
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127997730C>T, NC_000007.13:g.127637783C>T, NG_051199.1:g.350742C>T, NM_014411.2:c.37C>T, NR_027330.1:n.222C>T, NM_014411.1:c.37C>T

Select item 14855995106.

rs1485599510 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:128000127 (GRCh38)
7:127640180 (GRCh37)
Canonical SPDI:: NC_000007.14:128000126:G:A
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.128000127G>A, NC_000007.13:g.127640180G>A, NG_051199.1:g.353139G>A

Select item 14854255167.

rs1485425516 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCTTTCCT>- [Show Flanks]
Chromosome:: 7:127997848 (GRCh38)
7:127637901 (GRCh37)
Canonical SPDI:: NC_000007.14:127997845:CTTGCTTTCCT:CT
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.127997848_127997856del, NC_000007.13:g.127637901_127637909del, NG_051199.1:g.350860_350868del, NM_014411.2:c.155_163del, NR_027330.1:n.340_348del, NM_014411.1:c.155_163del

Select item 14852115908.

rs1485211590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:127997146 (GRCh38)
7:127637199 (GRCh37)
Canonical SPDI:: NC_000007.14:127997145:T:G
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127997146T>G, NC_000007.13:g.127637199T>G, NG_051199.1:g.350158T>G

Select item 14849253649.

rs1484925364 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:127999040 (GRCh38)
7:127639093 (GRCh37)
Canonical SPDI:: NC_000007.14:127999039:T:C
Gene:: SND1 (Varview), SND1-IT1 (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_000007.14:g.127999040T>C, NC_000007.13:g.127639093T>C, NG_051199.1:g.352052T>C, NM_014411.2:c.*1014T>C, NR_027330.1:n.1532T>C, NM_014411.1:c.*1014T>C

Select item 148489422110.

rs1484894221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:128000106 (GRCh38)
7:127640159 (GRCh37)
Canonical SPDI:: NC_000007.14:128000105:G:C,NC_000007.14:128000105:G:T
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.128000106G>C, NC_000007.14:g.128000106G>T, NC_000007.13:g.127640159G>C, NC_000007.13:g.127640159G>T, NG_051199.1:g.353118G>C, NG_051199.1:g.353118G>T

Select item 148482508811.

rs1484825088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:127996750 (GRCh38)
7:127636803 (GRCh37)
Canonical SPDI:: NC_000007.14:127996749:G:A
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127996750G>A, NC_000007.13:g.127636803G>A, NG_051199.1:g.349762G>A

Select item 148453201312.

rs1484532013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:127997746 (GRCh38)
7:127637799 (GRCh37)
Canonical SPDI:: NC_000007.14:127997745:T:A
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_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.127997746T>A, NC_000007.13:g.127637799T>A, NG_051199.1:g.350758T>A, NM_014411.2:c.53T>A, NR_027330.1:n.238T>A, NM_014411.1:c.53T>A

Select item 148449986313.

rs1484499863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:127998915 (GRCh38)
7:127638968 (GRCh37)
Canonical SPDI:: NC_000007.14:127998914:G:A
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.127998915G>A, NC_000007.13:g.127638968G>A, NG_051199.1:g.351927G>A, NM_014411.2:c.*889G>A, NR_027330.1:n.1407G>A, NM_014411.1:c.*889G>A

Select item 148135082914.

rs1481350829 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:127997570 (GRCh38)
7:127637623 (GRCh37)
Canonical SPDI:: NC_000007.14:127997569:A:C,NC_000007.14:127997569:A:G
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127997570A>C, NC_000007.14:g.127997570A>G, NC_000007.13:g.127637623A>C, NC_000007.13:g.127637623A>G, NG_051199.1:g.350582A>C, NG_051199.1:g.350582A>G, NM_014411.2:c.-124A>C, NM_014411.2:c.-124A>G, NR_027330.1:n.62A>C, NR_027330.1:n.62A>G, NM_014411.1:c.-124A>C, NM_014411.1:c.-124A>G

Select item 148106546515.

rs1481065465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:127995790 (GRCh38)
7:127635843 (GRCh37)
Canonical SPDI:: NC_000007.14:127995789:T:C
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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.127995790T>C, NC_000007.13:g.127635843T>C, NG_051199.1:g.348802T>C

Select item 148103375016.

rs1481033750 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:127997058 (GRCh38)
7:127637111 (GRCh37)
Canonical SPDI:: NC_000007.14:127997057:T:C,NC_000007.14:127997057:T:G
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.127997058T>C, NC_000007.14:g.127997058T>G, NC_000007.13:g.127637111T>C, NC_000007.13:g.127637111T>G, NG_051199.1:g.350070T>C, NG_051199.1:g.350070T>G

Select item 148087360617.

rs1480873606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:127997766 (GRCh38)
7:127637819 (GRCh37)
Canonical SPDI:: NC_000007.14:127997765:A:G
Gene:: SND1 (Varview), SND1-IT1 (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 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.127997766A>G, NC_000007.13:g.127637819A>G, NG_051199.1:g.350778A>G, NM_014411.2:c.73A>G, NR_027330.1:n.258A>G, NM_014411.1:c.73A>G

Select item 148065812918.

rs1480658129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:127999938 (GRCh38)
7:127639991 (GRCh37)
Canonical SPDI:: NC_000007.14:127999937:T:C,NC_000007.14:127999937:T:G
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.127999938T>C, NC_000007.14:g.127999938T>G, NC_000007.13:g.127639991T>C, NC_000007.13:g.127639991T>G, NG_051199.1:g.352950T>C, NG_051199.1:g.352950T>G, NM_014411.2:c.*1912T>C, NM_014411.2:c.*1912T>G, NR_027330.1:n.2430T>C, NR_027330.1:n.2430T>G

Select item 148011537019.

rs1480115370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:127996588 (GRCh38)
7:127636641 (GRCh37)
Canonical SPDI:: NC_000007.14:127996587:C:G
Gene:: SND1 (Varview), SND1-IT1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.127996588C>G, NC_000007.13:g.127636641C>G, NG_051199.1:g.349600C>G

Select item 147859793020.

rs1478597930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:127998296 (GRCh38)
7:127638349 (GRCh37)
Canonical SPDI:: NC_000007.14:127998295:G:A
Gene:: SND1 (Varview), SND1-IT1 (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_000007.14:g.127998296G>A, NC_000007.13:g.127638349G>A, NG_051199.1:g.351308G>A, NM_014411.2:c.*270G>A, NR_027330.1:n.788G>A, NM_014411.1:c.*270G>A

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