SNP Links for Gene (Select 100151683) - SNP

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Select item 14900510671.

rs1490051067 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTTTCATAGACT>- [Show Flanks]
Chromosome:: 2:121531018 (GRCh38)
2:122288594 (GRCh37)
Canonical SPDI:: NC_000002.12:121531015:CTGTTTTCATAGACT:CT
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/2 (GnomAD_exomes)
-=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.121531018_121531030del, NC_000002.11:g.122288594_122288606del, NG_029832.1:g.5139_5151del

Select item 14887331982.

rs1488733198 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:121531060 (GRCh38)
2:122288637 (GRCh37)
Canonical SPDI:: NC_000002.12:121531060:AAA:AAAA
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121531063dup, NC_000002.11:g.122288639dup, NG_029832.1:g.5184dup

Select item 14874571673.

rs1487457167 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:121530998 (GRCh38)
2:122288575 (GRCh37)
Canonical SPDI:: NC_000002.12:121530998::A
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.121530998_121530999insA, NC_000002.11:g.122288574_122288575insA, NG_029832.1:g.5119_5120insA, NR_023343.1:n.119_120insA

Select item 14873720404.

rs1487372040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:121530429 (GRCh38)
2:122288005 (GRCh37)
Canonical SPDI:: NC_000002.12:121530428:C:G
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121530429C>G, NC_000002.11:g.122288005C>G, NG_029832.1:g.4550C>G, XR_001739683.2:n.262C>G, XR_001739683.1:n.98C>G

Select item 14871649135.

rs1487164913 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:121531002 (GRCh38)
2:122288578 (GRCh37)
Canonical SPDI:: NC_000002.12:121531001:GG:G,NC_000002.12:121531001:GG:GGG
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000106/2 (TOMMO)
HGVS:: NC_000002.12:g.121531003del, NC_000002.12:g.121531003dup, NC_000002.11:g.122288579del, NC_000002.11:g.122288579dup, NG_029832.1:g.5124del, NG_029832.1:g.5124dup, NR_023343.1:n.124del, NR_023343.1:n.124dup

Select item 14863561396.

rs1486356139 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:121531289 (GRCh38)
2:122288865 (GRCh37)
Canonical SPDI:: NC_000002.12:121531288:T:C
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.121531289T>C, NC_000002.11:g.122288865T>C, NG_029832.1:g.5410T>C

Select item 14852918787.

rs1485291878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:121529357 (GRCh38)
2:122286933 (GRCh37)
Canonical SPDI:: NC_000002.12:121529356:T:C
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_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_000002.12:g.121529357T>C, NC_000002.11:g.122286933T>C, NG_029832.1:g.3478T>C

Select item 14847886358.

rs1484788635 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:121529675 (GRCh38)
2:122287251 (GRCh37)
Canonical SPDI:: NC_000002.12:121529674:G:A,NC_000002.12:121529674:G:C
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.121529675G>A, NC_000002.12:g.121529675G>C, NC_000002.11:g.122287251G>A, NC_000002.11:g.122287251G>C, NG_029832.1:g.3796G>A, NG_029832.1:g.3796G>C

Select item 14833256679.

rs1483325667 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:121530136 (GRCh38)
2:122287712 (GRCh37)
Canonical SPDI:: NC_000002.12:121530135:G:A,NC_000002.12:121530135:G:C
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.121530136G>A, NC_000002.12:g.121530136G>C, NC_000002.11:g.122287712G>A, NC_000002.11:g.122287712G>C, NG_029832.1:g.4257G>A, NG_029832.1:g.4257G>C

Select item 148184113110.

rs1481841131 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 2:121530713 (GRCh38)
2:122288289 (GRCh37)
Canonical SPDI:: NC_000002.12:121530712:G:
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.121530713del, NC_000002.11:g.122288289del, NG_029832.1:g.4834del, XR_001739683.2:n.546del, XR_001739683.1:n.382del

Select item 147986937511.

rs1479869375 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:121531027 (GRCh38)
2:122288603 (GRCh37)
Canonical SPDI:: NC_000002.12:121531025:AGA:A
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD_exomes)
-=0.000086/12 (GnomAD)
-=0.000117/31 (TOPMED)
HGVS:: NC_000002.12:g.121531027_121531028del, NC_000002.11:g.122288603_122288604del, NG_029832.1:g.5148_5149del

Select item 147865699512.

rs1478656995 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:121529639 (GRCh38)
2:122287215 (GRCh37)
Canonical SPDI:: NC_000002.12:121529638:A:G,NC_000002.12:121529638:A:T
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121529639A>G, NC_000002.12:g.121529639A>T, NC_000002.11:g.122287215A>G, NC_000002.11:g.122287215A>T, NG_029832.1:g.3760A>G, NG_029832.1:g.3760A>T

Select item 147609457613.

rs1476094576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121531236 (GRCh38)
2:122288812 (GRCh37)
Canonical SPDI:: NC_000002.12:121531235:A:G
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.121531236A>G, NC_000002.11:g.122288812A>G, NG_029832.1:g.5357A>G

Select item 147585939614.

rs1475859396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121531368 (GRCh38)
2:122288944 (GRCh37)
Canonical SPDI:: NC_000002.12:121531367:G:A
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_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_000002.12:g.121531368G>A, NC_000002.11:g.122288944G>A, NG_029832.1:g.5489G>A

Select item 147543615215.

rs1475436152 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:121531384 (GRCh38)
2:122288960 (GRCh37)
Canonical SPDI:: NC_000002.12:121531383:A:
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.121531384del, NC_000002.11:g.122288960del, NG_029832.1:g.5505del

Select item 147388258616.

rs1473882586 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:121529892 (GRCh38)
2:122287468 (GRCh37)
Canonical SPDI:: NC_000002.12:121529891:A:G
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.121529892A>G, NC_000002.11:g.122287468A>G, NG_029832.1:g.4013A>G

Select item 147250103117.

rs1472501031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121529649 (GRCh38)
2:122287225 (GRCh37)
Canonical SPDI:: NC_000002.12:121529648:G:A
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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_000002.12:g.121529649G>A, NC_000002.11:g.122287225G>A, NG_029832.1:g.3770G>A

Select item 147190932318.

rs1471909323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:121530579 (GRCh38)
2:122288155 (GRCh37)
Canonical SPDI:: NC_000002.12:121530578:G:A
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.121530579G>A, NC_000002.11:g.122288155G>A, NG_029832.1:g.4700G>A, XR_001739683.2:n.412G>A, XR_001739683.1:n.248G>A

Select item 147167047519.

rs1471670475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:121531331 (GRCh38)
2:122288907 (GRCh37)
Canonical SPDI:: NC_000002.12:121531330:C:G
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_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_000002.12:g.121531331C>G, NC_000002.11:g.122288907C>G, NG_029832.1:g.5452C>G

Select item 147140755720.

rs1471407557 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:121530758 (GRCh38)
2:122288334 (GRCh37)
Canonical SPDI:: NC_000002.12:121530757:A:C,NC_000002.12:121530757:A:G
Gene:: CLASP1 (Varview), RNU4ATAC (Varview), CLASP1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.121530758A>C, NC_000002.12:g.121530758A>G, NC_000002.11:g.122288334A>C, NC_000002.11:g.122288334A>G, NG_029832.1:g.4879A>C, NG_029832.1:g.4879A>G, XR_001739683.2:n.591A>C, XR_001739683.2:n.591A>G, XR_001739683.1:n.427A>C, XR_001739683.1:n.427A>G

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