SNP Links for Gene (Select 388951) - SNP

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Select item 14907808641.

rs1490780864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54257105 (GRCh38)
2:54484242 (GRCh37)
Canonical SPDI:: NC_000002.12:54257104:G:A
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.54257105G>A, NC_000002.11:g.54484242G>A

Select item 14906965142.

rs1490696514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54253427 (GRCh38)
2:54480564 (GRCh37)
Canonical SPDI:: NC_000002.12:54253426:A:G
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.54253427A>G, NC_000002.11:g.54480564A>G, NM_001003937.3:c.*1492T>C, NM_001003937.2:c.*1492T>C

Select item 14906534353.

rs1490653435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:54255205 (GRCh38)
2:54482342 (GRCh37)
Canonical SPDI:: NC_000002.12:54255204:C:G
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.54255205C>G, NC_000002.11:g.54482342C>G, NM_001003937.3:c.947G>C, NM_001003937.2:c.947G>C, NP_001003937.2:p.Arg316Thr

Select item 14906158564.

rs1490615856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:54258104 (GRCh38)
2:54485241 (GRCh37)
Canonical SPDI:: NC_000002.12:54258103:T:C
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54258104T>C, NC_000002.11:g.54485241T>C

Select item 14905600565.

rs1490560056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54254662 (GRCh38)
2:54481799 (GRCh37)
Canonical SPDI:: NC_000002.12:54254661:G:A
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54254662G>A, NC_000002.11:g.54481799G>A, NM_001003937.3:c.*257C>T, NM_001003937.2:c.*257C>T

Select item 14903496326.

rs1490349632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:54258206 (GRCh38)
2:54485343 (GRCh37)
Canonical SPDI:: NC_000002.12:54258205:G:A,NC_000002.12:54258205:G:T
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0001/14 (GnomAD)
HGVS:: NC_000002.12:g.54258206G>A, NC_000002.12:g.54258206G>T, NC_000002.11:g.54485343G>A, NC_000002.11:g.54485343G>T

Select item 14896921667.

rs1489692166 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:54255134 (GRCh38)
2:54482272 (GRCh37)
Canonical SPDI:: NC_000002.12:54255134:G:GG
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54255135dup, NC_000002.11:g.54482272dup, NM_001003937.3:c.1017dup, NM_001003937.2:c.1017dup, NP_001003937.2:p.Ile340fs

Select item 14888394608.

rs1488839460 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54254516 (GRCh38)
2:54481653 (GRCh37)
Canonical SPDI:: NC_000002.12:54254515:A:G
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54254516A>G, NC_000002.11:g.54481653A>G, NM_001003937.3:c.*403T>C, NM_001003937.2:c.*403T>C

Select item 14886165159.

rs1488616515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:54257334 (GRCh38)
2:54484471 (GRCh37)
Canonical SPDI:: NC_000002.12:54257333:C:A,NC_000002.12:54257333:C:T
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.54257334C>A, NC_000002.12:g.54257334C>T, NC_000002.11:g.54484471C>A, NC_000002.11:g.54484471C>T

Select item 148752129210.

rs1487521292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54254714 (GRCh38)
2:54481851 (GRCh37)
Canonical SPDI:: NC_000002.12:54254713:A:G
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.54254714A>G, NC_000002.11:g.54481851A>G, NM_001003937.3:c.*205T>C, NM_001003937.2:c.*205T>C

Select item 148617266911.

rs1486172669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54255444 (GRCh38)
2:54482581 (GRCh37)
Canonical SPDI:: NC_000002.12:54255443:G:A
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.54255444G>A, NC_000002.11:g.54482581G>A, NM_001003937.3:c.708C>T, NM_001003937.2:c.708C>T

Select item 148583713112.

rs1485837131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54256912 (GRCh38)
2:54484049 (GRCh37)
Canonical SPDI:: NC_000002.12:54256911:C:T
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.54256912C>T, NC_000002.11:g.54484049C>T

Select item 148564123213.

rs1485641232 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54253865 (GRCh38)
2:54481002 (GRCh37)
Canonical SPDI:: NC_000002.12:54253864:A:G
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,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_000002.12:g.54253865A>G, NC_000002.11:g.54481002A>G, NM_001003937.3:c.*1054T>C, NM_001003937.2:c.*1054T>C

Select item 148551433314.

rs1485514333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54255892 (GRCh38)
2:54483029 (GRCh37)
Canonical SPDI:: NC_000002.12:54255891:C:T
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000106/2 (TOMMO)
T=0.001369/4 (KOREAN)
T=0.001638/3 (Korea1K)
HGVS:: NC_000002.12:g.54255892C>T, NC_000002.11:g.54483029C>T, NM_001003937.3:c.260G>A, NM_001003937.2:c.260G>A, NP_001003937.2:p.Gly87Glu

Select item 148545503615.

rs1485455036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:54256618 (GRCh38)
2:54483755 (GRCh37)
Canonical SPDI:: NC_000002.12:54256617:A:G
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.54256618A>G, NC_000002.11:g.54483755A>G

Select item 148438879916.

rs1484388799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:54255434 (GRCh38)
2:54482571 (GRCh37)
Canonical SPDI:: NC_000002.12:54255433:G:T
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.54255434G>T, NC_000002.11:g.54482571G>T, NM_001003937.3:c.718C>A, NM_001003937.2:c.718C>A, NP_001003937.2:p.Gln240Lys

Select item 148410276117.

rs1484102761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:54254596 (GRCh38)
2:54481733 (GRCh37)
Canonical SPDI:: NC_000002.12:54254595:C:T
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.54254596C>T, NC_000002.11:g.54481733C>T, NM_001003937.3:c.*323G>A, NM_001003937.2:c.*323G>A

Select item 148332181418.

rs1483321814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:54255704 (GRCh38)
2:54482841 (GRCh37)
Canonical SPDI:: NC_000002.12:54255703:C:A
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_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)
HGVS:: NC_000002.12:g.54255704C>A, NC_000002.11:g.54482841C>A, NM_001003937.3:c.448G>T, NM_001003937.2:c.448G>T, NP_001003937.2:p.Val150Leu

Select item 148321046619.

rs1483210466 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTAGGTAG>-,GTAGGTAGGTAG [Show Flanks]
Chromosome:: 2:54256196 (GRCh38)
2:54483333 (GRCh37)
Canonical SPDI:: NC_000002.12:54256193:AGGTAGGTAG:AG,NC_000002.12:54256193:AGGTAGGTAG:AGGTAGGTAGGTAG
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGTAGGTAGGTAG=0./0 (ALFA)
AGGT=0.000005/1 (GnomAD_exomes)
AGGT=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.54256196_54256203del, NC_000002.12:g.54256196GTAG[3], NC_000002.11:g.54483333_54483340del, NC_000002.11:g.54483333GTAG[3], NM_001003937.3:c.-50_-43del, NM_001003937.3:c.-50ACCT[3], NM_001003937.2:c.-50_-43del, NM_001003937.2:c.-50ACCT[3]

Select item 148269331820.

rs1482693318 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:54255581 (GRCh38)
2:54482718 (GRCh37)
Canonical SPDI:: NC_000002.12:54255580:G:A
Gene:: ACYP2 (Varview), TSPYL6 (Varview), LOC105374610 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000002.12:g.54255581G>A, NC_000002.11:g.54482718G>A, NM_001003937.3:c.571C>T, NM_001003937.2:c.571C>T, NP_001003937.2:p.Pro191Ser

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