SNP Links for Nucleotide (Select 148235001) - SNP

Links from Nucleotide

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Select item 14887345421.

rs1488734542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15744447 (GRCh38)
17:15647761 (GRCh37)
Canonical SPDI:: NC_000017.11:15744446:T:C
Gene:: TBC1D26 (Varview), LOC105371559 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.15744447T>C, NC_000017.10:g.15647761T>C, NM_178571.4:c.*529T>C, NR_171000.1:n.3451T>C, NM_001388465.1:c.1262T>C, NP_001375394.1:p.Met421Thr

Select item 14876669582.

rs1487666958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15735624 (GRCh38)
17:15638938 (GRCh37)
Canonical SPDI:: NC_000017.11:15735623:T:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.15735624T>C, NC_000017.10:g.15638938T>C, NM_178571.4:c.103T>C, NR_171000.1:n.2292T>C, NM_001388465.1:c.103T>C

Select item 14852095723.

rs1485209572 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:15741151 (GRCh38)
17:15644465 (GRCh37)
Canonical SPDI:: NC_000017.11:15741150:C:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (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)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.15741151C>A, NC_000017.10:g.15644465C>A, NM_178571.4:c.576C>A, NR_171000.1:n.2765C>A, NM_001388465.1:c.576C>A

Select item 14844087644.

rs1484408764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15738787 (GRCh38)
17:15642101 (GRCh37)
Canonical SPDI:: NC_000017.11:15738786:A:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.15738787A>G, NC_000017.10:g.15642101A>G, NM_178571.4:c.454A>G, NR_171000.1:n.2643A>G, NM_001388465.1:c.454A>G, NP_848666.2:p.Thr152Ala, NP_001375394.1:p.Thr152Ala

Select item 14823441645.

rs1482344164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15744319 (GRCh38)
17:15647633 (GRCh37)
Canonical SPDI:: NC_000017.11:15744318:G:A
Gene:: TBC1D26 (Varview), LOC105371559 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.15744319G>A, NC_000017.10:g.15647633G>A, NM_178571.4:c.*401G>A, NR_171000.1:n.3323G>A, NM_001388465.1:c.1134G>A

Select item 14809193846.

rs1480919384 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15732372 (GRCh38)
17:15635686 (GRCh37)
Canonical SPDI:: NC_000017.11:15732371:T:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.15732372T>C, NC_000017.10:g.15635686T>C, NM_178571.4:c.-155T>C, NM_001388465.1:c.-155T>C

Select item 14804333667.

rs1480433366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15737499 (GRCh38)
17:15640813 (GRCh37)
Canonical SPDI:: NC_000017.11:15737498:C:T
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15737499C>T, NC_000017.10:g.15640813C>T, NM_178571.4:c.174C>T, NR_171000.1:n.2363C>T, NM_001388465.1:c.174C>T

Select item 14801708488.

rs1480170848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15738802 (GRCh38)
17:15642116 (GRCh37)
Canonical SPDI:: NC_000017.11:15738801:A:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15738802A>G, NC_000017.10:g.15642116A>G, NM_178571.4:c.469A>G, NR_171000.1:n.2658A>G, NM_001388465.1:c.469A>G, NP_848666.2:p.Met157Val, NP_001375394.1:p.Met157Val

Select item 14750854479.

rs1475085447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15735045 (GRCh38)
17:15638359 (GRCh37)
Canonical SPDI:: NC_000017.11:15735044:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000038/10 (TOPMED)
A=0.000064/9 (GnomAD)
HGVS:: NC_000017.11:g.15735045G>A, NC_000017.10:g.15638359G>A, NM_178571.4:c.-27G>A, NR_171000.1:n.2163G>A, NM_001388465.1:c.-27G>A

Select item 146995238710.

rs1469952387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:15742929 (GRCh38)
17:15646243 (GRCh37)
Canonical SPDI:: NC_000017.11:15742928:G:A,NC_000017.11:15742928:G:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.15742929G>A, NC_000017.11:g.15742929G>C, NC_000017.10:g.15646243G>A, NC_000017.10:g.15646243G>C, NM_178571.4:c.*95G>A, NM_178571.4:c.*95G>C, NR_171000.1:n.3017G>A, NR_171000.1:n.3017G>C, NM_001388465.1:c.828G>A, NM_001388465.1:c.828G>C

Select item 146953071111.

rs1469530711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15738764 (GRCh38)
17:15642078 (GRCh37)
Canonical SPDI:: NC_000017.11:15738763:G:A
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.15738764G>A, NC_000017.10:g.15642078G>A, NM_178571.4:c.431G>A, NR_171000.1:n.2620G>A, NM_001388465.1:c.431G>A, NP_848666.2:p.Cys144Tyr, NP_001375394.1:p.Cys144Tyr

Select item 146936221412.

rs1469362214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:15738295 (GRCh38)
17:15641609 (GRCh37)
Canonical SPDI:: NC_000017.11:15738294:T:C,NC_000017.11:15738294:T:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.15738295T>C, NC_000017.11:g.15738295T>G, NC_000017.10:g.15641609T>C, NC_000017.10:g.15641609T>G, NM_178571.4:c.295T>C, NM_178571.4:c.295T>G, NR_171000.1:n.2484T>C, NR_171000.1:n.2484T>G, NM_001388465.1:c.295T>C, NM_001388465.1:c.295T>G, NP_848666.2:p.Tyr99His, NP_848666.2:p.Tyr99Asp, NP_001375394.1:p.Tyr99His, NP_001375394.1:p.Tyr99Asp

Select item 146755772513.

rs1467557725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:15744413 (GRCh38)
17:15647727 (GRCh37)
Canonical SPDI:: NC_000017.11:15744412:G:A
Gene:: TBC1D26 (Varview), LOC105371559 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,missense_variant,3_prime_UTR_variant,500B_downstream_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.15744413G>A, NC_000017.10:g.15647727G>A, NM_178571.4:c.*495G>A, NR_171000.1:n.3417G>A, NM_001388465.1:c.1228G>A, NP_001375394.1:p.Gly410Ser

Select item 146732642714.

rs1467326427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:15738812 (GRCh38)
17:15642126 (GRCh37)
Canonical SPDI:: NC_000017.11:15738811:T:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15738812T>C, NC_000017.10:g.15642126T>C, NM_178571.4:c.479T>C, NR_171000.1:n.2668T>C, NM_001388465.1:c.479T>C, NP_848666.2:p.Ile160Thr, NP_001375394.1:p.Ile160Thr

Select item 146704772115.

rs1467047721 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:15738001 (GRCh38)
17:15641315 (GRCh37)
Canonical SPDI:: NC_000017.11:15738000:G:C
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.15738001G>C, NC_000017.10:g.15641315G>C, NM_178571.4:c.203G>C, NR_171000.1:n.2392G>C, NM_001388465.1:c.203G>C, NP_848666.2:p.Arg68Thr, NP_001375394.1:p.Arg68Thr

Select item 146452668816.

rs1464526688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:15743502 (GRCh38)
17:15646816 (GRCh37)
Canonical SPDI:: NC_000017.11:15743501:A:G
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,intron_variant,coding_sequence_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_000017.11:g.15743502A>G, NC_000017.10:g.15646816A>G, NM_178571.4:c.*310A>G, NR_171000.1:n.3232A>G, NM_001388465.1:c.1043A>G, NP_001375394.1:p.Asp348Gly

Select item 146448033417.

rs1464480334 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:15744595 (GRCh38)
17:15647909 (GRCh37)
Canonical SPDI:: NC_000017.11:15744594:C:A,NC_000017.11:15744594:C:T
Gene:: TBC1D26 (Varview), LOC105371559 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.15744595C>A, NC_000017.11:g.15744595C>T, NC_000017.10:g.15647909C>A, NC_000017.10:g.15647909C>T, NM_178571.4:c.*677C>A, NM_178571.4:c.*677C>T, NM_001388465.1:c.*3C>A, NM_001388465.1:c.*3C>T

Select item 146420127718.

rs1464201277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:15741188 (GRCh38)
17:15644502 (GRCh37)
Canonical SPDI:: NC_000017.11:15741187:G:T
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.15741188G>T, NC_000017.10:g.15644502G>T, NM_178571.4:c.613G>T, NR_171000.1:n.2802G>T, NM_001388465.1:c.613G>T, NP_848666.2:p.Asp205Tyr, NP_001375394.1:p.Asp205Tyr

Select item 146225099219.

rs1462250992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:15737510 (GRCh38)
17:15640824 (GRCh37)
Canonical SPDI:: NC_000017.11:15737509:C:T
Gene:: TBC1D26 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.15737510C>T, NC_000017.10:g.15640824C>T, NM_178571.4:c.185C>T, NR_171000.1:n.2374C>T, NM_001388465.1:c.185C>T, NP_848666.2:p.Ala62Val, NP_001375394.1:p.Ala62Val

Select item 146035300620.

rs1460353006 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:15744631 (GRCh38)
17:15647945 (GRCh37)
Canonical SPDI:: NC_000017.11:15744630:C:A,NC_000017.11:15744630:C:T
Gene:: TBC1D26 (Varview), LOC105371559 (Varview), TBC1D26-AS1 (Varview), ZNF286A-TBC1D26 (Varview)
Functional Consequence:: downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000017.11:g.15744631C>A, NC_000017.11:g.15744631C>T, NC_000017.10:g.15647945C>A, NC_000017.10:g.15647945C>T, NM_178571.4:c.*713C>A, NM_178571.4:c.*713C>T, NM_001388465.1:c.*39C>A, NM_001388465.1:c.*39C>T

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