SNP Links for Gene (Select 105371807) - SNP

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

Links from Gene

Items: 1 to 20 of 2868

<< First< Prev

Page of 144

Next >Last >>

Select item 14910675201.

rs1491067520 has merged into rs35808845 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 17:48295633 (GRCh38)
17:46372995 (GRCh37)
Canonical SPDI:: NC_000017.11:48295620:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:48295620:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:48295620:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:48295620:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:48295620:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.17752/889 (1000Genomes)
HGVS:: NC_000017.11:g.48295633_48295634del, NC_000017.11:g.48295634del, NC_000017.11:g.48295634dup, NC_000017.11:g.48295633_48295634dup, NC_000017.11:g.48295631_48295634dup, NC_000017.10:g.46372995_46372996del, NC_000017.10:g.46372996del, NC_000017.10:g.46372996dup, NC_000017.10:g.46372995_46372996dup, NC_000017.10:g.46372993_46372996dup

Select item 14910454662.

rs1491045466 has merged into rs34889554 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTG>-,TG,TGTG,TGTGTGTG,TGTGTGTGTG [Show Flanks]
Chromosome:: 17:48299581 (GRCh38)
17:46376943 (GRCh37)
Canonical SPDI:: NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000017.11:48299570:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
TG=0.00067/3 (Estonian)
TG=0.00071/12 (TOMMO)
TG=0.00167/1 (NorthernSweden)
TG=0.002/2 (GoNL)
TG=0.00218/4 (Korea1K)
TG=0.00463/1 (Vietnamese)
TG=0.03454/173 (1000Genomes)
HGVS:: NC_000017.11:g.48299571TG[5], NC_000017.11:g.48299571TG[6], NC_000017.11:g.48299571TG[7], NC_000017.11:g.48299571TG[9], NC_000017.11:g.48299571TG[10], NC_000017.10:g.46376933TG[5], NC_000017.10:g.46376933TG[6], NC_000017.10:g.46376933TG[7], NC_000017.10:g.46376933TG[9], NC_000017.10:g.46376933TG[10]

Select item 14907485643.

rs1490748564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48301607 (GRCh38)
17:46378969 (GRCh37)
Canonical SPDI:: NC_000017.11:48301606:G:A
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.48301607G>A, NC_000017.10:g.46378969G>A

Select item 14899165694.

rs1489916569 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:48296050 (GRCh38)
17:46373412 (GRCh37)
Canonical SPDI:: NC_000017.11:48296049:C:A
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48296050C>A, NC_000017.10:g.46373412C>A

Select item 14898468965.

rs1489846896 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48306054 (GRCh38)
17:46383416 (GRCh37)
Canonical SPDI:: NC_000017.11:48306053:A:G
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48306054A>G, NC_000017.10:g.46383416A>G

Select item 14897372506.

rs1489737250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48304380 (GRCh38)
17:46381742 (GRCh37)
Canonical SPDI:: NC_000017.11:48304379:T:C
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.48304380T>C, NC_000017.10:g.46381742T>C

Select item 14896053297.

rs1489605329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48307642 (GRCh38)
17:46385004 (GRCh37)
Canonical SPDI:: NC_000017.11:48307641:T:C
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.48307642T>C, NC_000017.10:g.46385004T>C, NR_131239.1:n.541T>C, NR_131240.1:n.481T>C

Select item 14891422188.

rs1489142218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48304630 (GRCh38)
17:46381992 (GRCh37)
Canonical SPDI:: NC_000017.11:48304629:C:T
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00011/2 (ALFA)
T=0.00022/1 (Estonian)
HGVS:: NC_000017.11:g.48304630C>T, NC_000017.10:g.46381992C>T

Select item 14881562079.

rs1488156207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:48300051 (GRCh38)
17:46377413 (GRCh37)
Canonical SPDI:: NC_000017.11:48300050:A:C
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_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_000017.11:g.48300051A>C, NC_000017.10:g.46377413A>C

Select item 148776796910.

rs1487767969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:48307400 (GRCh38)
17:46384762 (GRCh37)
Canonical SPDI:: NC_000017.11:48307399:G:A,NC_000017.11:48307399:G:C,NC_000017.11:48307399:G:T
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000156/1 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.48307400G>A, NC_000017.11:g.48307400G>C, NC_000017.11:g.48307400G>T, NC_000017.10:g.46384762G>A, NC_000017.10:g.46384762G>C, NC_000017.10:g.46384762G>T, NR_131239.1:n.299G>A, NR_131239.1:n.299G>C, NR_131239.1:n.299G>T, NR_131240.1:n.239G>A, NR_131240.1:n.239G>C, NR_131240.1:n.239G>T

Select item 148751851311.

rs1487518513 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48294989 (GRCh38)
17:46372351 (GRCh37)
Canonical SPDI:: NC_000017.11:48294988:A:G
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_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)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.48294989A>G, NC_000017.10:g.46372351A>G

Select item 148716873112.

rs1487168731 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:48300019 (GRCh38)
17:46377381 (GRCh37)
Canonical SPDI:: NC_000017.11:48300018:A:G
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48300019A>G, NC_000017.10:g.46377381A>G

Select item 148672699213.

rs1486726992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48292633 (GRCh38)
17:46369995 (GRCh37)
Canonical SPDI:: NC_000017.11:48292632:T:C
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_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_000017.11:g.48292633T>C, NC_000017.10:g.46369995T>C

Select item 148661457714.

rs1486614577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48302500 (GRCh38)
17:46379862 (GRCh37)
Canonical SPDI:: NC_000017.11:48302499:G:A
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48302500G>A, NC_000017.10:g.46379862G>A

Select item 148656383615.

rs1486563836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:48292702 (GRCh38)
17:46370064 (GRCh37)
Canonical SPDI:: NC_000017.11:48292701:G:T
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48292702G>T, NC_000017.10:g.46370064G>T

Select item 148642531416.

rs1486425314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:48305274 (GRCh38)
17:46382636 (GRCh37)
Canonical SPDI:: NC_000017.11:48305273:C:G,NC_000017.11:48305273:C:T
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48305274C>G, NC_000017.11:g.48305274C>T, NC_000017.10:g.46382636C>G, NC_000017.10:g.46382636C>T

Select item 148629610917.

rs1486296109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:48292990 (GRCh38)
17:46370352 (GRCh37)
Canonical SPDI:: NC_000017.11:48292989:G:A
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.48292990G>A, NC_000017.10:g.46370352G>A

Select item 148615336518.

rs1486153365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:48299265 (GRCh38)
17:46376627 (GRCh37)
Canonical SPDI:: NC_000017.11:48299264:T:A
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.48299265T>A, NC_000017.10:g.46376627T>A

Select item 148577675119.

rs1485776751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:48306550 (GRCh38)
17:46383912 (GRCh37)
Canonical SPDI:: NC_000017.11:48306549:T:C
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.48306550T>C, NC_000017.10:g.46383912T>C

Select item 148499708920.

rs1484997089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:48305348 (GRCh38)
17:46382710 (GRCh37)
Canonical SPDI:: NC_000017.11:48305347:C:T
Gene:: SKAP1 (Varview), SKAP1-AS2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.48305348C>T, NC_000017.10:g.46382710C>T

<< First< Prev

Page of 144

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 105371807) (2868)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: