SNP Links for Gene (Select 345651) - SNP

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Select item 14908493341.

rs1490849334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:57483848 (GRCh38)
5:56779675 (GRCh37)
Canonical SPDI:: NC_000005.10:57483847:T:C,NC_000005.10:57483847:T:G
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.57483848T>C, NC_000005.10:g.57483848T>G, NC_000005.9:g.56779675T>C, NC_000005.9:g.56779675T>G

Select item 14903661802.

rs1490366180 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 5:57480222 (GRCh38)
5:56776049 (GRCh37)
Canonical SPDI:: NC_000005.10:57480221:T:A,NC_000005.10:57480221:T:G
Gene:: ACTBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.57480222T>A, NC_000005.10:g.57480222T>G, NC_000005.9:g.56776049T>A, NC_000005.9:g.56776049T>G, NM_001017992.4:c.*1355A>T, NM_001017992.4:c.*1355A>C, NM_001017992.3:c.*1355A>T, NM_001017992.3:c.*1355A>C

Select item 14901542343.

rs1490154234 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 5:57482444 (GRCh38)
5:56778271 (GRCh37)
Canonical SPDI:: NC_000005.10:57482443:GT:
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.57482444_57482445del, NC_000005.9:g.56778271_56778272del, NM_001017992.4:c.263_264del, NM_001017992.3:c.263_264del, NP_001017992.1:p.Tyr88fs

Select item 14900403084.

rs1490040308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:57481181 (GRCh38)
5:56777008 (GRCh37)
Canonical SPDI:: NC_000005.10:57481180:T:A,NC_000005.10:57481180:T:C
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000005.10:g.57481181T>A, NC_000005.10:g.57481181T>C, NC_000005.9:g.56777008T>A, NC_000005.9:g.56777008T>C, NM_001017992.4:c.*396A>T, NM_001017992.4:c.*396A>G, NM_001017992.3:c.*396A>T, NM_001017992.3:c.*396A>G

Select item 14880719245.

rs1488071924 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:57484167 (GRCh38)
5:56779994 (GRCh37)
Canonical SPDI:: NC_000005.10:57484164:ACAC:AC
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ACAC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.57484165AC[1], NC_000005.9:g.56779992AC[1]

Select item 14870617276.

rs1487061727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:57483104 (GRCh38)
5:56778931 (GRCh37)
Canonical SPDI:: NC_000005.10:57483103:G:A
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.57483104G>A, NC_000005.9:g.56778931G>A, XR_007059132.1:n.145G>A

Select item 14862347397.

rs1486234739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 5:57481813 (GRCh38)
5:56777640 (GRCh37)
Canonical SPDI:: NC_000005.10:57481812:C:A,NC_000005.10:57481812:C:G,NC_000005.10:57481812:C:T
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.57481813C>A, NC_000005.10:g.57481813C>G, NC_000005.10:g.57481813C>T, NC_000005.9:g.56777640C>A, NC_000005.9:g.56777640C>G, NC_000005.9:g.56777640C>T, NM_001017992.4:c.895G>T, NM_001017992.4:c.895G>C, NM_001017992.4:c.895G>A, NM_001017992.3:c.895G>T, NM_001017992.3:c.895G>C, NM_001017992.3:c.895G>A, NP_001017992.1:p.Val299Leu, NP_001017992.1:p.Val299Leu, NP_001017992.1:p.Val299Met

Select item 14860772368.

rs1486077236 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:57480688 (GRCh38)
5:56776515 (GRCh37)
Canonical SPDI:: NC_000005.10:57480687:A:G
Gene:: ACTBL2 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.57480688A>G, NC_000005.9:g.56776515A>G, NM_001017992.4:c.*889T>C, NM_001017992.3:c.*889T>C

Select item 14860714959.

rs1486071495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:57479596 (GRCh38)
5:56775423 (GRCh37)
Canonical SPDI:: NC_000005.10:57479595:T:A
Gene:: ACTBL2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.57479596T>A, NC_000005.9:g.56775423T>A

Select item 148542301610.

rs1485423016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:57484481 (GRCh38)
5:56780308 (GRCh37)
Canonical SPDI:: NC_000005.10:57484480:T:C
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.57484481T>C, NC_000005.9:g.56780308T>C

Select item 148459521611.

rs1484595216 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:57482096 (GRCh38)
5:56777923 (GRCh37)
Canonical SPDI:: NC_000005.10:57482095:A:G
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_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_000005.10:g.57482096A>G, NC_000005.9:g.56777923A>G, NM_001017992.4:c.612T>C, NM_001017992.3:c.612T>C

Select item 148449666312.

rs1484496663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:57481997 (GRCh38)
5:56777824 (GRCh37)
Canonical SPDI:: NC_000005.10:57481996:C:T
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.57481997C>T, NC_000005.9:g.56777824C>T, NM_001017992.4:c.711G>A, NM_001017992.3:c.711G>A

Select item 148377504713.

rs1483775047 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGG>- [Show Flanks]
Chromosome:: 5:57481818 (GRCh38)
5:56777645 (GRCh37)
Canonical SPDI:: NC_000005.10:57481816:GTTGG:G
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.57481818_57481821del, NC_000005.9:g.56777645_56777648del, NM_001017992.4:c.888_891del, NM_001017992.3:c.888_891del, NP_001017992.1:p.Asn297fs

Select item 148365806014.

rs1483658060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:57479712 (GRCh38)
5:56775539 (GRCh37)
Canonical SPDI:: NC_000005.10:57479711:C:A
Gene:: ACTBL2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.57479712C>A, NC_000005.9:g.56775539C>A

Select item 148276672315.

rs1482766723 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:57479695 (GRCh38)
5:56775522 (GRCh37)
Canonical SPDI:: NC_000005.10:57479694:G:T
Gene:: ACTBL2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.57479695G>T, NC_000005.9:g.56775522G>T

Select item 148147437216.

rs1481474372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:57481731 (GRCh38)
5:56777558 (GRCh37)
Canonical SPDI:: NC_000005.10:57481730:A:G
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.57481731A>G, NC_000005.9:g.56777558A>G, NM_001017992.4:c.977T>C, NM_001017992.3:c.977T>C, NP_001017992.1:p.Met326Thr

Select item 148140224417.

rs1481402244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:57480785 (GRCh38)
5:56776612 (GRCh37)
Canonical SPDI:: NC_000005.10:57480784:C:T
Gene:: ACTBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.57480785C>T, NC_000005.9:g.56776612C>T, NM_001017992.4:c.*792G>A, NM_001017992.3:c.*792G>A

Select item 148126191618.

rs1481261916 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:57483951 (GRCh38)
5:56779778 (GRCh37)
Canonical SPDI:: NC_000005.10:57483950:A:G
Gene:: ACTBL2 (Varview), LOC102724122 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.57483951A>G, NC_000005.9:g.56779778A>G

Select item 148107194819.

rs1481071948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:57480324 (GRCh38)
5:56776151 (GRCh37)
Canonical SPDI:: NC_000005.10:57480323:C:A
Gene:: ACTBL2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.57480324C>A, NC_000005.9:g.56776151C>A, NM_001017992.4:c.*1253G>T, NM_001017992.3:c.*1253G>T

Select item 148100888020.

rs1481008880 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:57479831 (GRCh38)
5:56775658 (GRCh37)
Canonical SPDI:: NC_000005.10:57479830:A:G
Gene:: ACTBL2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000005.10:g.57479831A>G, NC_000005.9:g.56775658A>G

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