SNP Links for Gene (Select 29895) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14904151151.

rs1490415115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30372144 (GRCh38)
16:30383465 (GRCh37)
Canonical SPDI:: NC_000016.10:30372143:A:G
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.30372144A>G, NC_000016.9:g.30383465A>G, NG_050592.1:g.6211A>G

Select item 14900919642.

rs1490091964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30371092 (GRCh38)
16:30382413 (GRCh37)
Canonical SPDI:: NC_000016.10:30371091:G:A
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000016.10:g.30371092G>A, NC_000016.9:g.30382413G>A, NG_050592.1:g.5159G>A

Select item 14900755533.

rs1490075553 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30372295 (GRCh38)
16:30383616 (GRCh37)
Canonical SPDI:: NC_000016.10:30372294:C:T
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30372295C>T, NC_000016.9:g.30383616C>T, NG_050592.1:g.6362C>T, NM_001324458.2:c.-241C>T

Select item 14899243874.

rs1489924387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30371616 (GRCh38)
16:30382937 (GRCh37)
Canonical SPDI:: NC_000016.10:30371615:C:T
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30371616C>T, NC_000016.9:g.30382937C>T, NG_050592.1:g.5683C>T

Select item 14898103185.

rs1489810318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30378488 (GRCh38)
16:30389809 (GRCh37)
Canonical SPDI:: NC_000016.10:30378487:C:T
Gene:: SEPTIN1 (Varview), MYL11 (Varview), ZNF48 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000016.10:g.30378488C>T, NC_000016.9:g.30389809C>T, NG_050732.1:g.5177C>T, NG_050592.1:g.12555C>T, NM_052838.6:c.1065G>A, NM_052838.5:c.1065G>A, NM_052838.4:c.1191G>A, NM_001365977.2:c.1065G>A, NM_001365977.1:c.1065G>A, NP_443070.6:p.Met355Ile, NP_001352906.1:p.Met355Ile

Select item 14897944106.

rs1489794410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30378440 (GRCh38)
16:30389761 (GRCh37)
Canonical SPDI:: NC_000016.10:30378439:G:A
Gene:: SEPTIN1 (Varview), MYL11 (Varview), ZNF48 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30378440G>A, NC_000016.9:g.30389761G>A, NG_050732.1:g.5129G>A, NG_050592.1:g.12507G>A, NM_052838.6:c.1113C>T, NM_052838.5:c.1113C>T, NM_052838.4:c.1239C>T, NM_001365977.2:c.1113C>T, NM_001365977.1:c.1113C>T

Select item 14897758127.

rs1489775812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30370023 (GRCh38)
16:30381344 (GRCh37)
Canonical SPDI:: NC_000016.10:30370022:G:A
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.30370023G>A, NC_000016.9:g.30381344G>A, NG_050592.1:g.4090G>A, NM_015527.4:c.161C>T, NM_015527.3:c.161C>T, XM_011545789.3:c.161C>T, XM_011545789.2:c.161C>T, XM_011545789.1:c.161C>T, NP_056342.3:p.Ala54Val, XP_011544091.1:p.Ala54Val

Select item 14897751508.

rs1489775150 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30370310 (GRCh38)
16:30381631 (GRCh37)
Canonical SPDI:: NC_000016.10:30370309:G:A
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.30370310G>A, NC_000016.9:g.30381631G>A, NG_050592.1:g.4377G>A, NM_015527.4:c.-127C>T, XM_011545789.3:c.-127C>T, XM_011545789.2:c.-127C>T

Select item 14890918939.

rs1489091893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30374103 (GRCh38)
16:30385424 (GRCh37)
Canonical SPDI:: NC_000016.10:30374102:A:G
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30374103A>G, NC_000016.9:g.30385424A>G, NG_050732.1:g.792A>G, NG_050592.1:g.8170A>G

Select item 148901582410.

rs1489015824 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30374136 (GRCh38)
16:30385457 (GRCh37)
Canonical SPDI:: NC_000016.10:30374135:C:T
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30374136C>T, NC_000016.9:g.30385457C>T, NG_050732.1:g.825C>T, NG_050592.1:g.8203C>T

Select item 148876705311.

rs1488767053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:30375117 (GRCh38)
16:30386438 (GRCh37)
Canonical SPDI:: NC_000016.10:30375116:A:G,NC_000016.10:30375116:A:T
Gene:: MYL11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000043/6 (GnomAD)
HGVS:: NC_000016.10:g.30375117A>G, NC_000016.10:g.30375117A>T, NC_000016.9:g.30386438A>G, NC_000016.9:g.30386438A>T, NG_050732.1:g.1806A>G, NG_050732.1:g.1806A>T, NG_050592.1:g.9184A>G, NG_050592.1:g.9184A>T

Select item 148868763612.

rs1488687636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30374536 (GRCh38)
16:30385857 (GRCh37)
Canonical SPDI:: NC_000016.10:30374535:C:T
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.30374536C>T, NC_000016.9:g.30385857C>T, NG_050732.1:g.1225C>T, NG_050592.1:g.8603C>T

Select item 148865578913.

rs1488655789 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGAGTG [Show Flanks]
Chromosome:: 16:30375512 (GRCh38)
16:30386834 (GRCh37)
Canonical SPDI:: NC_000016.10:30375512:ATGAGTG:ATGAGTGATGAGTG
Gene:: MYL11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATGAGTGATGAGTG=0./0 (ALFA)
ATGAGTG=0.000004/1 (TOPMED)
ATGAGTG=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.30375513_30375519dup, NC_000016.9:g.30386834_30386840dup, NG_050732.1:g.2202_2208dup, NG_050592.1:g.9580_9586dup

Select item 148850154814.

rs1488501548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:30373057 (GRCh38)
16:30384378 (GRCh37)
Canonical SPDI:: NC_000016.10:30373056:T:G
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.30373057T>G, NC_000016.9:g.30384378T>G, NG_050592.1:g.7124T>G

Select item 148817764815.

rs1488177648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:30374070 (GRCh38)
16:30385391 (GRCh37)
Canonical SPDI:: NC_000016.10:30374069:T:C
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.30374070T>C, NC_000016.9:g.30385391T>C, NG_050732.1:g.759T>C, NG_050592.1:g.8137T>C

Select item 148816110216.

rs1488161102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:30371214 (GRCh38)
16:30382535 (GRCh37)
Canonical SPDI:: NC_000016.10:30371213:G:A
Gene:: TBC1D10B (Varview), MYL11 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000016.10:g.30371214G>A, NC_000016.9:g.30382535G>A, NG_050592.1:g.5281G>A

Select item 148809602417.

rs1488096024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:30372735 (GRCh38)
16:30384056 (GRCh37)
Canonical SPDI:: NC_000016.10:30372734:A:G
Gene:: MYL11 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000016.10:g.30372735A>G, NC_000016.9:g.30384056A>G, NG_050592.1:g.6802A>G

Select item 148806465318.

rs1488064653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:30373743 (GRCh38)
16:30385064 (GRCh37)
Canonical SPDI:: NC_000016.10:30373742:C:G,NC_000016.10:30373742:C:T
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.30373743C>G, NC_000016.10:g.30373743C>T, NC_000016.9:g.30385064C>G, NC_000016.9:g.30385064C>T, NG_050732.1:g.432C>G, NG_050732.1:g.432C>T, NG_050592.1:g.7810C>G, NG_050592.1:g.7810C>T

Select item 148799526219.

rs1487995262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30374685 (GRCh38)
16:30386006 (GRCh37)
Canonical SPDI:: NC_000016.10:30374684:C:T
Gene:: MYL11 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.30374685C>T, NC_000016.9:g.30386006C>T, NG_050732.1:g.1374C>T, NG_050592.1:g.8752C>T

Select item 148786693720.

rs1487866937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:30377643 (GRCh38)
16:30388964 (GRCh37)
Canonical SPDI:: NC_000016.10:30377642:C:T
Gene:: SEPTIN1 (Varview), MYL11 (Varview), ZNF48 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
HGVS:: NC_000016.10:g.30377643C>T, NC_000016.9:g.30388964C>T, NG_050732.1:g.4332C>T, NG_050592.1:g.11710C>T, NG_056816.1:g.36C>T