SNP Links for Gene (Select 71) - SNP

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Select item 14898366901.

rs1489836690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81513682 (GRCh38)
17:79480708 (GRCh37)
Canonical SPDI:: NC_000017.11:81513681:G:A
Gene:: ACTG1 (Varview), FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000017.11:g.81513682G>A, NC_000017.10:g.79480708G>A, NG_011433.1:g.4120C>T, NW_025791805.1:g.169887G>A, NW_003871087.1:g.168320G>A

Select item 14894154192.

rs1489415419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81514247 (GRCh38)
17:79481273 (GRCh37)
Canonical SPDI:: NC_000017.11:81514246:G:A
Gene:: ACTG1 (Varview), FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.81514247G>A, NC_000017.10:g.79481273G>A, NG_011433.1:g.3555C>T, NW_025791805.1:g.170452G>A, NW_003871087.1:g.168885G>A

Select item 14890711173.

rs1489071117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:81512183 (GRCh38)
17:79479209 (GRCh37)
Canonical SPDI:: NC_000017.11:81512182:C:G
Gene:: ACTG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.81512183C>G, NC_000017.10:g.79479209C>G, NG_011433.1:g.5619G>C, NW_025791805.1:g.168388C>G, NW_003871087.1:g.166821C>G

Select item 14890025544.

rs1489002554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:81513995 (GRCh38)
17:79481021 (GRCh37)
Canonical SPDI:: NC_000017.11:81513994:G:T
Gene:: ACTG1 (Varview), FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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.81513995G>T, NC_000017.10:g.79481021G>T, NG_011433.1:g.3807C>A, NW_025791805.1:g.170200G>T, NW_003871087.1:g.168633G>T

Select item 14883216725.

rs1488321672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81510181 (GRCh38)
17:79477207 (GRCh37)
Canonical SPDI:: NC_000017.11:81510180:G:A,NC_000017.11:81510180:G:C
Gene:: ACTG1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000038/10 (TOPMED)
HGVS:: NC_000017.11:g.81510181G>A, NC_000017.11:g.81510181G>C, NC_000017.10:g.79477207G>A, NC_000017.10:g.79477207G>C, NG_011433.1:g.7621C>T, NG_011433.1:g.7621C>G, NM_001614.5:c.*509C>T, NM_001614.5:c.*509C>G, NM_001614.4:c.*509C>T, NM_001614.4:c.*509C>G, NM_001614.3:c.*509C>T, NM_001614.3:c.*509C>G, NM_001199954.3:c.*509C>T, NM_001199954.3:c.*509C>G, NM_001199954.2:c.*509C>T, NM_001199954.2:c.*509C>G, NM_001199954.1:c.*509C>T, NM_001199954.1:c.*509C>G, NR_037688.3:n.1560C>T, NR_037688.3:n.1560C>G, NR_037688.2:n.1560C>T, NR_037688.2:n.1560C>G, NR_037688.1:n.1627C>T, NR_037688.1:n.1627C>G, NW_025791805.1:g.166386G>A, NW_025791805.1:g.166386G>C, NW_003871087.1:g.164819G>A, NW_003871087.1:g.164819G>C

Select item 14880229166.

rs1488022916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81513742 (GRCh38)
17:79480768 (GRCh37)
Canonical SPDI:: NC_000017.11:81513741:A:G
Gene:: ACTG1 (Varview), FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81513742A>G, NC_000017.10:g.79480768A>G, NG_011433.1:g.4060T>C, NW_025791805.1:g.169947A>G, NW_003871087.1:g.168380A>G

Select item 14879030157.

rs1487903015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81513207 (GRCh38)
17:79480233 (GRCh37)
Canonical SPDI:: NC_000017.11:81513206:G:A
Gene:: ACTG1 (Varview), FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000017.11:g.81513207G>A, NC_000017.10:g.79480233G>A, NG_011433.1:g.4595C>T, NW_025791805.1:g.169412G>A, NW_003871087.1:g.167845G>A

Select item 14876246358.

rs1487624635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81514836 (GRCh38)
17:79481862 (GRCh37)
Canonical SPDI:: NC_000017.11:81514835:G:A
Gene:: FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000022/3 (GnomAD)
HGVS:: NC_000017.11:g.81514836G>A, NC_000017.10:g.79481862G>A, NG_011433.1:g.2966C>T, NW_025791805.1:g.171041G>A, NW_003871087.1:g.169474G>A

Select item 14875457469.

rs1487545746 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81510382 (GRCh38)
17:79477408 (GRCh37)
Canonical SPDI:: NC_000017.11:81510381:T:C
Gene:: ACTG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81510382T>C, NC_000017.10:g.79477408T>C, NG_011433.1:g.7420A>G, NM_001614.5:c.*308A>G, NM_001614.4:c.*308A>G, NM_001614.3:c.*308A>G, NM_001199954.3:c.*308A>G, NM_001199954.2:c.*308A>G, NM_001199954.1:c.*308A>G, NW_025791805.1:g.166587T>C, NW_003871087.1:g.165020T>C

Select item 148739891210.

rs1487398912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81512792 (GRCh38)
17:79479818 (GRCh37)
Canonical SPDI:: NC_000017.11:81512791:C:T
Gene:: ACTG1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/2 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.81512792C>T, NC_000017.10:g.79479818C>T, NG_011433.1:g.5010G>A, NM_001614.5:c.-65G>A, NM_001614.4:c.-65G>A, NM_001614.3:c.-65G>A, NM_001199954.3:c.-184G>A, NM_001199954.2:c.-184G>A, NM_001199954.1:c.-184G>A, NR_037688.3:n.8G>A, NR_037688.2:n.8G>A, NR_037688.1:n.75G>A, NW_025791805.1:g.168997C>T, NW_003871087.1:g.167430C>T

Select item 148692992411.

rs1486929924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81513022 (GRCh38)
17:79480048 (GRCh37)
Canonical SPDI:: NC_000017.11:81513021:C:A,NC_000017.11:81513021:C:T
Gene:: ACTG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.81513022C>A, NC_000017.11:g.81513022C>T, NC_000017.10:g.79480048C>A, NC_000017.10:g.79480048C>T, NG_011433.1:g.4780G>T, NG_011433.1:g.4780G>A, NW_025791805.1:g.169227C>A, NW_025791805.1:g.169227C>T, NW_003871087.1:g.167660C>A, NW_003871087.1:g.167660C>T

Select item 148599895012.

rs1485998950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81512637 (GRCh38)
17:79479663 (GRCh37)
Canonical SPDI:: NC_000017.11:81512636:G:A,NC_000017.11:81512636:G:C
Gene:: ACTG1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.81512637G>A, NC_000017.11:g.81512637G>C, NC_000017.10:g.79479663G>A, NC_000017.10:g.79479663G>C, NG_011433.1:g.5165C>T, NG_011433.1:g.5165C>G, NM_001199954.3:c.-29C>T, NM_001199954.3:c.-29C>G, NM_001199954.2:c.-29C>T, NM_001199954.2:c.-29C>G, NM_001199954.1:c.-29C>T, NM_001199954.1:c.-29C>G, NW_025791805.1:g.168842G>A, NW_025791805.1:g.168842G>C, NW_003871087.1:g.167275G>A, NW_003871087.1:g.167275G>C

Select item 148594666613.

rs1485946666 has merged into rs781911676 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCGCGCGGCCCGGCGGCGCGC>-,CCGCGCGGCCCGGCGGCGCGCCCGCGCGGCCCGGCGGCGCGC [Show Flanks]
Chromosome:: 17:81512846 (GRCh38)
17:79479872 (GRCh37)
Canonical SPDI:: NC_000017.11:81512836:GCGGCGCGCCCGCGCGGCCCGGCGGCGCGC:GCGGCGCGC,NC_000017.11:81512836:GCGGCGCGCCCGCGCGGCCCGGCGGCGCGC:GCGGCGCGCCCGCGCGGCCCGGCGGCGCGCCCGCGCGGCCCGGCGGCGCGC
Gene:: ACTG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGCGCCCGCGCGGCCCGGCGGCGCGCCCGCGCGGCCCGGCGGCGCGC=0./0 (ALFA)
-=0.00002/2 (GnomAD_exomes)
-=0.00011/1 (ExAC)
HGVS:: NC_000017.11:g.81512846_81512866del, NC_000017.11:g.81512846_81512866dup, NC_000017.10:g.79479872_79479892del, NC_000017.10:g.79479872_79479892dup, NG_011433.1:g.4945_4965del, NG_011433.1:g.4945_4965dup, NW_025791805.1:g.169051_169071del, NW_025791805.1:g.169051_169071dup, NW_003871087.1:g.167484_167504del, NW_003871087.1:g.167484_167504dup, NM_001614.3:c.-130_-110del, NM_001614.3:c.-130_-110dup, NM_001199954.1:c.-249_-229del, NM_001199954.1:c.-249_-229dup, NR_037688.1:n.10_30del, NR_037688.1:n.10_30dup

Select item 148501361214.

rs1485013612 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81512499 (GRCh38)
17:79479525 (GRCh37)
Canonical SPDI:: NC_000017.11:81512498:G:A,NC_000017.11:81512498:G:T
Gene:: ACTG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81512499G>A, NC_000017.11:g.81512499G>T, NC_000017.10:g.79479525G>A, NC_000017.10:g.79479525G>T, NG_011433.1:g.5303C>T, NG_011433.1:g.5303C>A, NW_025791805.1:g.168704G>A, NW_025791805.1:g.168704G>T, NW_003871087.1:g.167137G>A, NW_003871087.1:g.167137G>T

Select item 148436644715.

rs1484366447 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:81509507 (GRCh38)
17:79476533 (GRCh37)
Canonical SPDI:: NC_000017.11:81509506:A:G
Gene:: ACTG1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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.81509507A>G, NC_000017.10:g.79476533A>G, NG_011433.1:g.8295T>C, NW_025791805.1:g.165712A>G, NW_003871087.1:g.164145A>G

Select item 148396884516.

rs1483968845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:81512668 (GRCh38)
17:79479694 (GRCh37)
Canonical SPDI:: NC_000017.11:81512667:G:A,NC_000017.11:81512667:G:C,NC_000017.11:81512667:G:T
Gene:: ACTG1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000086/12 (GnomAD)
HGVS:: NC_000017.11:g.81512668G>A, NC_000017.11:g.81512668G>C, NC_000017.11:g.81512668G>T, NC_000017.10:g.79479694G>A, NC_000017.10:g.79479694G>C, NC_000017.10:g.79479694G>T, NG_011433.1:g.5134C>T, NG_011433.1:g.5134C>G, NG_011433.1:g.5134C>A, NM_001199954.3:c.-60C>T, NM_001199954.3:c.-60C>G, NM_001199954.3:c.-60C>A, NM_001199954.2:c.-60C>T, NM_001199954.2:c.-60C>G, NM_001199954.2:c.-60C>A, NM_001199954.1:c.-60C>T, NM_001199954.1:c.-60C>G, NM_001199954.1:c.-60C>A, NW_025791805.1:g.168873G>A, NW_025791805.1:g.168873G>C, NW_025791805.1:g.168873G>T, NW_003871087.1:g.167306G>A, NW_003871087.1:g.167306G>C, NW_003871087.1:g.167306G>T

Select item 148369424117.

rs1483694241 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:81513753 (GRCh38)
17:79480779 (GRCh37)
Canonical SPDI:: NC_000017.11:81513752:T:A,NC_000017.11:81513752:T:C
Gene:: ACTG1 (Varview), FSCN2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.81513753T>A, NC_000017.11:g.81513753T>C, NC_000017.10:g.79480779T>A, NC_000017.10:g.79480779T>C, NG_011433.1:g.4049A>T, NG_011433.1:g.4049A>G, NW_025791805.1:g.169958T>A, NW_025791805.1:g.169958T>C, NW_003871087.1:g.168391T>A, NW_003871087.1:g.168391T>C

Select item 148292759818.

rs1482927598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:81512178 (GRCh38)
17:79479204 (GRCh37)
Canonical SPDI:: NC_000017.11:81512177:C:A,NC_000017.11:81512177:C:T
Gene:: ACTG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.81512178C>A, NC_000017.11:g.81512178C>T, NC_000017.10:g.79479204C>A, NC_000017.10:g.79479204C>T, NG_011433.1:g.5624G>T, NG_011433.1:g.5624G>A, NW_025791805.1:g.168383C>A, NW_025791805.1:g.168383C>T, NW_003871087.1:g.166816C>A, NW_003871087.1:g.166816C>T

Select item 148266054419.

rs1482660544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:81513056 (GRCh38)
17:79480082 (GRCh37)
Canonical SPDI:: NC_000017.11:81513055:C:A,NC_000017.11:81513055:C:G,NC_000017.11:81513055:C:T
Gene:: ACTG1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.81513056C>A, NC_000017.11:g.81513056C>G, NC_000017.11:g.81513056C>T, NC_000017.10:g.79480082C>A, NC_000017.10:g.79480082C>G, NC_000017.10:g.79480082C>T, NG_011433.1:g.4746G>T, NG_011433.1:g.4746G>C, NG_011433.1:g.4746G>A, NW_025791805.1:g.169261C>A, NW_025791805.1:g.169261C>G, NW_025791805.1:g.169261C>T, NW_003871087.1:g.167694C>A, NW_003871087.1:g.167694C>G, NW_003871087.1:g.167694C>T

Select item 148237413820.

rs1482374138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81512116 (GRCh38)
17:79479142 (GRCh37)
Canonical SPDI:: NC_000017.11:81512115:C:T
Gene:: ACTG1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
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.81512116C>T, NC_000017.10:g.79479142C>T, NG_011433.1:g.5686G>A, NM_001614.5:c.150G>A, NM_001614.4:c.150G>A, NM_001614.3:c.150G>A, NM_001199954.3:c.150G>A, NM_001199954.2:c.150G>A, NM_001199954.1:c.150G>A, NR_037688.3:n.222G>A, NR_037688.2:n.222G>A, NR_037688.1:n.289G>A, NW_025791805.1:g.168321C>T, NW_003871087.1:g.166754C>T

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