SNP Links for Gene (Select 342979) - SNP

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Select item 14908850431.

rs1490885043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14053686 (GRCh38)
19:14164498 (GRCh37)
Canonical SPDI:: NC_000019.10:14053685:C:T
Gene:: IL27RA (Varview), PALM3 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14053686C>T, NC_000019.9:g.14164498C>T, NW_021160022.1:g.265527C>T, NM_001145028.2:c.1986G>A, NM_001145028.1:c.1941G>A, NM_001367327.1:c.1788G>A, XM_047438763.1:c.1905G>A, XM_047438764.1:c.1788G>A

Select item 14903979742.

rs1490397974 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:14054035 (GRCh38)
19:14164847 (GRCh37)
Canonical SPDI:: NC_000019.10:14054034:G:T
Gene:: PALM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14054035G>T, NC_000019.9:g.14164847G>T, NW_021160022.1:g.265876G>T, NM_001145028.2:c.1637C>A, NM_001145028.1:c.1592C>A, NM_001367327.1:c.1439C>A, XM_047438763.1:c.1556C>A, XM_047438764.1:c.1439C>A

Select item 14903093743.

rs1490309374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:14057576 (GRCh38)
19:14168388 (GRCh37)
Canonical SPDI:: NC_000019.10:14057575:C:A,NC_000019.10:14057575:C:T
Gene:: PALM3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14057576C>A, NC_000019.10:g.14057576C>T, NC_000019.9:g.14168388C>A, NC_000019.9:g.14168388C>T, NW_021160022.1:g.269417C>A, NW_021160022.1:g.269417C>T, NM_001367327.1:c.-253G>T, NM_001367327.1:c.-253G>A, XM_047438764.1:c.-77G>T, XM_047438764.1:c.-77G>A

Select item 14902236104.

rs1490223610 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:14059945 (GRCh38)
19:14170757 (GRCh37)
Canonical SPDI:: NC_000019.10:14059944:G:C
Gene:: PALM3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000019.10:g.14059945G>C, NC_000019.9:g.14170757G>C, NW_021160022.1:g.271786G>C

Select item 14901669025.

rs1490166902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14059128 (GRCh38)
19:14169940 (GRCh37)
Canonical SPDI:: NC_000019.10:14059127:A:G
Gene:: PALM3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14059128A>G, NC_000019.9:g.14169940A>G, NW_021160022.1:g.270969A>G, NM_001145028.2:c.77T>C, NM_001145028.1:c.32T>C, XM_047438763.1:c.77T>C, NP_001138500.2:p.Leu26Pro, XP_047294719.1:p.Leu26Pro

Select item 14893547866.

rs1489354786 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14058778 (GRCh38)
19:14169590 (GRCh37)
Canonical SPDI:: NC_000019.10:14058777:A:G
Gene:: PALM3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14058778A>G, NC_000019.9:g.14169590A>G, NW_021160022.1:g.270619A>G

Select item 14891557607.

rs1489155760 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14062520 (GRCh38)
19:14173332 (GRCh37)
Canonical SPDI:: NC_000019.10:14062519:C:T
Gene:: PALM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.14062520C>T, NC_000019.9:g.14173332C>T, NW_021160022.1:g.274361C>T

Select item 14887649088.

rs1488764908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:14062419 (GRCh38)
19:14173231 (GRCh37)
Canonical SPDI:: NC_000019.10:14062418:C:A
Gene:: PALM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14062419C>A, NC_000019.9:g.14173231C>A, NW_021160022.1:g.274260C>A

Select item 14886953189.

rs1488695318 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:14063315 (GRCh38)
19:14174127 (GRCh37)
Canonical SPDI:: NC_000019.10:14063314:A:C,NC_000019.10:14063314:A:G
Gene:: PALM3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14063315A>C, NC_000019.10:g.14063315A>G, NC_000019.9:g.14174127A>C, NC_000019.9:g.14174127A>G, NW_021160022.1:g.275156A>C, NW_021160022.1:g.275156A>G

Select item 148864694310.

rs1488646943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:14056216 (GRCh38)
19:14167028 (GRCh37)
Canonical SPDI:: NC_000019.10:14056215:T:C
Gene:: PALM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.14056216T>C, NC_000019.9:g.14167028T>C, NW_021160022.1:g.268057T>C

Select item 148860488211.

rs1488604882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14054812 (GRCh38)
19:14165624 (GRCh37)
Canonical SPDI:: NC_000019.10:14054811:C:T
Gene:: PALM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
T=0.000026/4 (GnomAD_exomes)
HGVS:: NC_000019.10:g.14054812C>T, NC_000019.9:g.14165624C>T, NW_021160022.1:g.266653C>T, NM_001145028.2:c.860G>A, NM_001145028.1:c.815G>A, NM_001367327.1:c.662G>A, XM_047438763.1:c.779G>A, XM_047438764.1:c.662G>A

Select item 148834379712.

rs1488343797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:14056170 (GRCh38)
19:14166982 (GRCh37)
Canonical SPDI:: NC_000019.10:14056169:A:G
Gene:: PALM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.14056170A>G, NC_000019.9:g.14166982A>G, NW_021160022.1:g.268011A>G

Select item 148831953713.

rs1488319537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14056395 (GRCh38)
19:14167207 (GRCh37)
Canonical SPDI:: NC_000019.10:14056394:C:T
Gene:: PALM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14056395C>T, NC_000019.9:g.14167207C>T, NW_021160022.1:g.268236C>T

Select item 148829139814.

rs1488291398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:14056057 (GRCh38)
19:14166869 (GRCh37)
Canonical SPDI:: NC_000019.10:14056056:C:T
Gene:: PALM3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.14056057C>T, NC_000019.9:g.14166869C>T, NW_021160022.1:g.267898C>T

Select item 148828579115.

rs1488285791 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:14057696 (GRCh38)
19:14168508 (GRCh37)
Canonical SPDI:: NC_000019.10:14057695:C:A
Gene:: PALM3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.14057696C>A, NC_000019.9:g.14168508C>A, NW_021160022.1:g.269537C>A

Select item 148798893416.

rs1487988934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:14058288 (GRCh38)
19:14169100 (GRCh37)
Canonical SPDI:: NC_000019.10:14058287:G:A
Gene:: PALM3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000019.10:g.14058288G>A, NC_000019.9:g.14169100G>A, NW_021160022.1:g.270129G>A

Select item 148795920517.

rs1487959205 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:14060564 (GRCh38)
19:14171376 (GRCh37)
Canonical SPDI:: NC_000019.10:14060563:G:A,NC_000019.10:14060563:G:T
Gene:: PALM3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.14060564G>A, NC_000019.10:g.14060564G>T, NC_000019.9:g.14171376G>A, NC_000019.9:g.14171376G>T, NW_021160022.1:g.272405G>A, NW_021160022.1:g.272405G>T

Select item 148787771118.

rs1487877711 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:14053496 (GRCh38)
19:14164308 (GRCh37)
Canonical SPDI:: NC_000019.10:14053495:T:A
Gene:: IL27RA (Varview), PALM3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.14053496T>A, NC_000019.9:g.14164308T>A, NW_021160022.1:g.265337T>A, NM_001145028.2:c.*109A>T, NM_001145028.1:c.*109A>T, NM_001367327.1:c.*109A>T, XM_047438763.1:c.*109A>T, XM_047438764.1:c.*109A>T

Select item 148766024819.

rs1487660248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:14060602 (GRCh38)
19:14171414 (GRCh37)
Canonical SPDI:: NC_000019.10:14060601:G:C
Gene:: PALM3 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000019.10:g.14060602G>C, NC_000019.9:g.14171414G>C, NW_021160022.1:g.272443G>C

Select item 148763115920.

rs1487631159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:14059487 (GRCh38)
19:14170299 (GRCh37)
Canonical SPDI:: NC_000019.10:14059486:C:A
Gene:: PALM3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.14059487C>A, NC_000019.9:g.14170299C>A, NW_021160022.1:g.271328C>A

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