SNP Links for Gene (Select 6991) - SNP

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Select item 14910067091.

rs1491006709 has merged into rs557162178 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:169739219 (GRCh38)
6:170139315 (GRCh37)
Canonical SPDI:: NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:169739208:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000006.12:g.169739219_169739228del, NC_000006.12:g.169739225_169739228del, NC_000006.12:g.169739226_169739228del, NC_000006.12:g.169739227_169739228del, NC_000006.12:g.169739228del, NC_000006.12:g.169739228dup, NC_000006.12:g.169739227_169739228dup, NC_000006.12:g.169739226_169739228dup, NC_000006.12:g.169739225_169739228dup, NC_000006.12:g.169739209_169739228T[37]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.170139315_170139324del, NC_000006.11:g.170139321_170139324del, NC_000006.11:g.170139322_170139324del, NC_000006.11:g.170139323_170139324del, NC_000006.11:g.170139324del, NC_000006.11:g.170139324dup, NC_000006.11:g.170139323_170139324dup, NC_000006.11:g.170139322_170139324dup, NC_000006.11:g.170139321_170139324dup, NC_000006.11:g.170139305_170139324T[37]CTTTTTTTTTTTTTTTTTTTTT[1], NT_187552.1:g.14421_14430del, NT_187552.1:g.14427_14430del, NT_187552.1:g.14428_14430del, NT_187552.1:g.14429_14430del, NT_187552.1:g.14430del, NT_187552.1:g.14430dup, NT_187552.1:g.14429_14430dup, NT_187552.1:g.14428_14430dup, NT_187552.1:g.14427_14430dup, NT_187552.1:g.14411_14430T[37]CTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14907464392.

rs1490746439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:169738859 (GRCh38)
6:170138955 (GRCh37)
Canonical SPDI:: NC_000006.12:169738858:T:C,NC_000006.12:169738858:T:G
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.169738859T>C, NC_000006.12:g.169738859T>G, NC_000006.11:g.170138955T>C, NC_000006.11:g.170138955T>G, NT_187552.1:g.14061T>C, NT_187552.1:g.14061T>G

Select item 14907447263.

rs1490744726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:169752947 (GRCh38)
6:170153043 (GRCh37)
Canonical SPDI:: NC_000006.12:169752946:G:T
Gene:: DYNLT2 (Varview), ERMARD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.169752947G>T, NC_000006.11:g.170153043G>T, NG_033842.1:g.6326G>T, NT_187552.1:g.28149G>T, XM_011535940.3:c.-607G>T, XM_011535940.2:c.-607G>T, XM_011535940.1:c.-607G>T

Select item 14907153644.

rs1490715364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:169737388 (GRCh38)
6:170137484 (GRCh37)
Canonical SPDI:: NC_000006.12:169737387:A:G
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.169737388A>G, NC_000006.11:g.170137484A>G, NT_187552.1:g.12590A>G

Select item 14905817465.

rs1490581746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:169752494 (GRCh38)
6:170152590 (GRCh37)
Canonical SPDI:: NC_000006.12:169752493:A:G
Gene:: DYNLT2 (Varview), ERMARD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.169752494A>G, NC_000006.11:g.170152590A>G, NG_033842.1:g.5873A>G, NT_187552.1:g.27696A>G, XM_011535940.3:c.-1060A>G, XM_011535940.2:c.-1060A>G, XM_011535940.1:c.-1060A>G

Select item 14904057216.

rs1490405721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:169726796 (GRCh38)
6:170126892 (GRCh37)
Canonical SPDI:: NC_000006.12:169726795:C:A
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.169726796C>A, NC_000006.11:g.170126892C>A, NT_187552.1:g.1998C>A

Select item 14902387987.

rs1490238798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:169726341 (GRCh38)
6:170126438 (GRCh37)
Canonical SPDI:: NC_000006.12:169726341:AAAAAAAA:AAAAAAAAA
Gene:: DYNLT2 (Varview), PHF10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.169726349dup, NC_000006.11:g.170126445dup, NT_187552.1:g.1551dup

Select item 14902193658.

rs1490219365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:169737711 (GRCh38)
6:170137807 (GRCh37)
Canonical SPDI:: NC_000006.12:169737710:G:A,NC_000006.12:169737710:G:C
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.169737711G>A, NC_000006.12:g.169737711G>C, NC_000006.11:g.170137807G>A, NC_000006.11:g.170137807G>C, NT_187552.1:g.12913G>A, NT_187552.1:g.12913G>C

Select item 14901703229.

rs1490170322 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:169735658 (GRCh38)
6:170135754 (GRCh37)
Canonical SPDI:: NC_000006.12:169735657:T:C
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000006.12:g.169735658T>C, NC_000006.11:g.170135754T>C, NT_187552.1:g.10860T>C

Select item 148998259310.

rs1489982593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:169733815 (GRCh38)
6:170133911 (GRCh37)
Canonical SPDI:: NC_000006.12:169733814:C:A
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.169733815C>A, NC_000006.11:g.170133911C>A, NT_187552.1:g.9017C>A

Select item 148973571811.

rs1489735718 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:169752064 (GRCh38)
6:170152160 (GRCh37)
Canonical SPDI:: NC_000006.12:169752063:A:G
Gene:: DYNLT2 (Varview), ERMARD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.169752064A>G, NC_000006.11:g.170152160A>G, NG_033842.1:g.5443A>G, NT_187552.1:g.27266A>G, XM_011535940.3:c.-1490A>G

Select item 148966737112.

rs1489667371 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:169733803 (GRCh38)
6:170133899 (GRCh37)
Canonical SPDI:: NC_000006.12:169733802:TTTTTT:TTTTT
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.169733808del, NC_000006.11:g.170133904del, NT_187552.1:g.9010del

Select item 148951130913.

rs1489511309 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148949311614.

rs1489493116 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:169747267 (GRCh38)
6:170147363 (GRCh37)
Canonical SPDI:: NC_000006.12:169747266:T:C
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.169747267T>C, NC_000006.11:g.170147363T>C, NG_033842.1:g.646T>C, NT_187552.1:g.22469T>C

Select item 148937651515.

rs1489376515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:169751712 (GRCh38)
6:170151808 (GRCh37)
Canonical SPDI:: NC_000006.12:169751711:G:A,NC_000006.12:169751711:G:C
Gene:: DYNLT2 (Varview), ERMARD (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.169751712G>A, NC_000006.12:g.169751712G>C, NC_000006.11:g.170151808G>A, NC_000006.11:g.170151808G>C, NG_033842.1:g.5091G>A, NG_033842.1:g.5091G>C, NT_187552.1:g.26914G>A, NT_187552.1:g.26914G>C, XM_047419021.1:c.-598G>A, XM_047419021.1:c.-598G>C

Select item 148897760816.

rs1488977608 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:169738951 (GRCh38)
6:170139047 (GRCh37)
Canonical SPDI:: NC_000006.12:169738950:A:G
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_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_000006.12:g.169738951A>G, NC_000006.11:g.170139047A>G, NT_187552.1:g.14153A>G

Select item 148895758217.

rs1488957582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:169725146 (GRCh38)
6:170125242 (GRCh37)
Canonical SPDI:: NC_000006.12:169725145:G:A
Gene:: DYNLT2 (Varview), PHF10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.169725146G>A, NC_000006.11:g.170125242G>A, NT_187552.1:g.348G>A, XM_011536093.4:c.*434C>T, XM_011536093.1:c.*434C>T, XM_006715554.4:c.*434C>T, XM_006715554.2:c.*434C>T

Select item 148873531918.

rs1488735319 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:169725585 (GRCh38)
6:170125681 (GRCh37)
Canonical SPDI:: NC_000006.12:169725584:T:A
Gene:: DYNLT2 (Varview), PHF10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.169725585T>A, NC_000006.11:g.170125681T>A, NT_187552.1:g.787T>A

Select item 148852545719.

rs1488525457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:169745148 (GRCh38)
6:170145244 (GRCh37)
Canonical SPDI:: NC_000006.12:169745147:A:C,NC_000006.12:169745147:A:G
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.169745148A>C, NC_000006.12:g.169745148A>G, NC_000006.11:g.170145244A>C, NC_000006.11:g.170145244A>G, NT_187552.1:g.20350A>C, NT_187552.1:g.20350A>G

Select item 148832460920.

rs1488324609 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:169733389 (GRCh38)
6:170133485 (GRCh37)
Canonical SPDI:: NC_000006.12:169733388:G:C
Gene:: DYNLT2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.169733389G>C, NC_000006.11:g.170133485G>C, NT_187552.1:g.8591G>C

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