SNP Links for Nucleotide (Select 324072824) - SNP - NCBI

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Links from Nucleotide

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Select item 14905152851.

rs1490515285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:166733979 (GRCh38)
4:167655130 (GRCh37)
Canonical SPDI:: NC_000004.12:166733978:A:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.166733979A>C, NC_000004.11:g.167655130A>C, NG_030414.1:g.505612T>G, NM_016950.2:c.*942T>G, NM_016950.3:c.*942T>G, NM_001040159.2:c.*942T>G, NM_001040159.1:c.*942T>G, NM_001204352.1:c.*942T>G, NM_001204352.2:c.*942T>G, NM_001204354.1:c.*942T>G, NM_001204354.2:c.*942T>G, NM_001204356.1:c.*942T>G, NM_001204356.2:c.*942T>G, NM_001204355.1:c.*942T>G, NM_001204355.2:c.*942T>G, NM_001204353.1:c.*942T>G, NM_001251967.1:c.*942T>G, NM_001251967.2:c.*942T>G, XM_017008258.2:c.*942T>G, XM_017008258.1:c.*942T>G, XM_017008257.2:c.*942T>G, XM_017008257.1:c.*942T>G, XM_011532018.2:c.*942T>G, XM_011532018.1:c.*942T>G, NM_001204357.1:c.*942T>G

Select item 14851485592.

rs1485148559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:166737483 (GRCh38)
4:167658634 (GRCh37)
Canonical SPDI:: NC_000004.12:166737482:A:C,NC_000004.12:166737482:A:G
Gene:: SPOCK3 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.166737483A>C, NC_000004.12:g.166737483A>G, NC_000004.11:g.167658634A>C, NC_000004.11:g.167658634A>G, NG_030414.1:g.502108T>G, NG_030414.1:g.502108T>C, NM_016950.2:c.1125T>G, NM_016950.2:c.1125T>C, NM_016950.3:c.1125T>G, NM_016950.3:c.1125T>C, NM_001040159.2:c.1116T>G, NM_001040159.2:c.1116T>C, NM_001040159.1:c.1116T>G, NM_001040159.1:c.1116T>C, NM_001204352.1:c.972T>G, NM_001204352.1:c.972T>C, NM_001204352.2:c.972T>G, NM_001204352.2:c.972T>C, NM_001204354.1:c.849T>G, NM_001204354.1:c.849T>C, NM_001204354.2:c.849T>G, NM_001204354.2:c.849T>C, NM_001204356.1:c.996T>G, NM_001204356.1:c.996T>C, NM_001204356.2:c.996T>G, NM_001204356.2:c.996T>C, NM_001204355.1:c.837T>G, NM_001204355.1:c.837T>C, NM_001204355.2:c.837T>G, NM_001204355.2:c.837T>C, NM_001204353.1:c.765T>G, NM_001204353.1:c.765T>C, NM_001251967.1:c.831T>G, NM_001251967.1:c.831T>C, NM_001251967.2:c.831T>G, NM_001251967.2:c.831T>C, XM_017008258.2:c.1116T>G, XM_017008258.2:c.1116T>C, XM_017008258.1:c.1116T>G, XM_017008258.1:c.1116T>C, XM_017008257.2:c.1152T>G, XM_017008257.2:c.1152T>C, XM_017008257.1:c.1152T>G, XM_017008257.1:c.1152T>C, XM_011532018.2:c.1125T>G, XM_011532018.2:c.1125T>C, XM_011532018.1:c.1125T>G, XM_011532018.1:c.1125T>C, NM_001204357.1:c.996T>G, NM_001204357.1:c.996T>C, NP_058646.2:p.Asn375Lys, NP_001035249.1:p.Asn372Lys, NP_001191281.1:p.Asn324Lys, NP_001191283.1:p.Asn283Lys, NP_001191285.1:p.Asn332Lys, NP_001191284.1:p.Asn279Lys, NP_001191282.1:p.Asn255Lys, NP_001238896.1:p.Asn277Lys, XP_016863747.1:p.Asn372Lys, XP_016863746.1:p.Asn384Lys, XP_011530320.1:p.Asn375Lys

Select item 14849396683.

rs1484939668 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:167234081 (GRCh38)
4:168155232 (GRCh37)
Canonical SPDI:: NC_000004.12:167234080:C:A
Gene:: SPOCK3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.167234081C>A, NC_000004.11:g.168155232C>A, NG_030414.1:g.5510G>T, NM_016950.2:c.93G>T, NM_016950.3:c.93G>T, NM_001040159.2:c.93G>T, NM_001040159.1:c.93G>T, NM_001204358.2:c.93G>T, NM_001204358.1:c.93G>T, NM_001204352.1:c.-133G>T, NM_001204352.2:c.-133G>T, NM_001204354.1:c.-129G>T, NM_001204354.2:c.-129G>T, NM_001204356.1:c.93G>T, NM_001204356.2:c.93G>T, NM_001204355.1:c.-26G>T, NM_001204355.2:c.-26G>T, NM_001204353.1:c.-144G>T, NM_001251967.1:c.93G>T, NM_001251967.2:c.93G>T, XM_017008258.2:c.93G>T, XM_017008258.1:c.93G>T, XM_017008257.2:c.129G>T, XM_017008257.1:c.129G>T, XM_011532018.2:c.93G>T, XM_011532018.1:c.93G>T, NM_001204357.1:c.93G>T, NM_001204359.1:c.93G>T

Select item 14848733264.

rs1484873326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:166733961 (GRCh38)
4:167655112 (GRCh37)
Canonical SPDI:: NC_000004.12:166733960:T:A
Gene:: SPOCK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.166733961T>A, NC_000004.11:g.167655112T>A, NG_030414.1:g.505630A>T, NM_016950.2:c.*960A>T, NM_016950.3:c.*960A>T, NM_001040159.2:c.*960A>T, NM_001040159.1:c.*960A>T, NM_001204352.1:c.*960A>T, NM_001204352.2:c.*960A>T, NM_001204354.1:c.*960A>T, NM_001204354.2:c.*960A>T, NM_001204356.1:c.*960A>T, NM_001204356.2:c.*960A>T, NM_001204355.1:c.*960A>T, NM_001204355.2:c.*960A>T, NM_001204353.1:c.*960A>T, NM_001251967.1:c.*960A>T, NM_001251967.2:c.*960A>T, XM_017008258.2:c.*960A>T, XM_017008258.1:c.*960A>T, XM_017008257.2:c.*960A>T, XM_017008257.1:c.*960A>T, XM_011532018.2:c.*960A>T, XM_011532018.1:c.*960A>T, NM_001204357.1:c.*960A>T

Select item 14824584595.

rs1482458459 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:166754725 (GRCh38)
4:167675876 (GRCh37)
Canonical SPDI:: NC_000004.12:166754724:G:A,NC_000004.12:166754724:G:T
Gene:: SPOCK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.166754725G>A, NC_000004.12:g.166754725G>T, NC_000004.11:g.167675876G>A, NC_000004.11:g.167675876G>T, NG_030414.1:g.484866C>T, NG_030414.1:g.484866C>A, NM_016950.2:c.723C>T, NM_016950.2:c.723C>A, NM_016950.3:c.723C>T, NM_016950.3:c.723C>A, NM_001040159.2:c.714C>T, NM_001040159.2:c.714C>A, NM_001040159.1:c.714C>T, NM_001040159.1:c.714C>A, NM_001204358.2:c.714C>T, NM_001204358.2:c.714C>A, NM_001204358.1:c.714C>T, NM_001204358.1:c.714C>A, NM_001204352.1:c.570C>T, NM_001204352.1:c.570C>A, NM_001204352.2:c.570C>T, NM_001204352.2:c.570C>A, NM_001204354.1:c.447C>T, NM_001204354.1:c.447C>A, NM_001204354.2:c.447C>T, NM_001204354.2:c.447C>A, NM_001204356.1:c.594C>T, NM_001204356.1:c.594C>A, NM_001204356.2:c.594C>T, NM_001204356.2:c.594C>A, NM_001204355.1:c.435C>T, NM_001204355.1:c.435C>A, NM_001204355.2:c.435C>T, NM_001204355.2:c.435C>A, NM_001204353.1:c.363C>T, NM_001204353.1:c.363C>A, NM_001251967.1:c.429C>T, NM_001251967.1:c.429C>A, NM_001251967.2:c.429C>T, NM_001251967.2:c.429C>A, XM_017008258.2:c.714C>T, XM_017008258.2:c.714C>A, XM_017008258.1:c.714C>T, XM_017008258.1:c.714C>A, XM_017008257.2:c.750C>T, XM_017008257.2:c.750C>A, XM_017008257.1:c.750C>T, XM_017008257.1:c.750C>A, XM_011532018.2:c.723C>T, XM_011532018.2:c.723C>A, XM_011532018.1:c.723C>T, XM_011532018.1:c.723C>A, NM_001204357.1:c.594C>T, NM_001204357.1:c.594C>A, NM_001204359.1:c.723C>T, NM_001204359.1:c.723C>A, NP_058646.2:p.Phe241Leu, NP_001035249.1:p.Phe238Leu, NP_001191287.1:p.Phe238Leu, NP_001191281.1:p.Phe190Leu, NP_001191283.1:p.Phe149Leu, NP_001191285.1:p.Phe198Leu, NP_001191284.1:p.Phe145Leu, NP_001191282.1:p.Phe121Leu, NP_001238896.1:p.Phe143Leu, XP_016863747.1:p.Phe238Leu, XP_016863746.1:p.Phe250Leu, XP_011530320.1:p.Phe241Leu

Select item 14817545556.

rs1481754555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:166734118 (GRCh38)
4:167655269 (GRCh37)
Canonical SPDI:: NC_000004.12:166734117:C:T
Gene:: SPOCK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.166734118C>T, NC_000004.11:g.167655269C>T, NG_030414.1:g.505473G>A, NM_016950.2:c.*803G>A, NM_016950.3:c.*803G>A, NM_001040159.2:c.*803G>A, NM_001040159.1:c.*803G>A, NM_001204352.1:c.*803G>A, NM_001204352.2:c.*803G>A, NM_001204354.1:c.*803G>A, NM_001204354.2:c.*803G>A, NM_001204356.1:c.*803G>A, NM_001204356.2:c.*803G>A, NM_001204355.1:c.*803G>A, NM_001204355.2:c.*803G>A, NM_001204353.1:c.*803G>A, NM_001251967.1:c.*803G>A, NM_001251967.2:c.*803G>A, XM_017008258.2:c.*803G>A, XM_017008258.1:c.*803G>A, XM_017008257.2:c.*803G>A, XM_017008257.1:c.*803G>A, XM_011532018.2:c.*803G>A, XM_011532018.1:c.*803G>A, NM_001204357.1:c.*803G>A

Select item 14800628727.

rs1480062872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:166734095 (GRCh38)
4:167655246 (GRCh37)
Canonical SPDI:: NC_000004.12:166734094:A:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.166734095A>C, NC_000004.11:g.167655246A>C, NG_030414.1:g.505496T>G, NM_016950.2:c.*826T>G, NM_016950.3:c.*826T>G, NM_001040159.2:c.*826T>G, NM_001040159.1:c.*826T>G, NM_001204352.1:c.*826T>G, NM_001204352.2:c.*826T>G, NM_001204354.1:c.*826T>G, NM_001204354.2:c.*826T>G, NM_001204356.1:c.*826T>G, NM_001204356.2:c.*826T>G, NM_001204355.1:c.*826T>G, NM_001204355.2:c.*826T>G, NM_001204353.1:c.*826T>G, NM_001251967.1:c.*826T>G, NM_001251967.2:c.*826T>G, XM_017008258.2:c.*826T>G, XM_017008258.1:c.*826T>G, XM_017008257.2:c.*826T>G, XM_017008257.1:c.*826T>G, XM_011532018.2:c.*826T>G, XM_011532018.1:c.*826T>G, NM_001204357.1:c.*826T>G

Select item 14795447628.

rs1479544762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:167062511 (GRCh38)
4:167983662 (GRCh37)
Canonical SPDI:: NC_000004.12:167062510:T:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.167062511T>C, NC_000004.11:g.167983662T>C, NG_030414.1:g.177080A>G, NM_016950.2:c.225A>G, NM_016950.3:c.225A>G, NM_001040159.2:c.216A>G, NM_001040159.1:c.216A>G, NM_001204358.2:c.216A>G, NM_001204358.1:c.216A>G, NM_001204352.1:c.72A>G, NM_001204352.2:c.72A>G, NM_001204356.1:c.216A>G, NM_001204356.2:c.216A>G, NM_001204353.1:c.-21A>G, XM_017008258.2:c.216A>G, XM_017008258.1:c.216A>G, XM_017008257.2:c.252A>G, XM_017008257.1:c.252A>G, XM_011532018.2:c.225A>G, XM_011532018.1:c.225A>G, NM_001204357.1:c.216A>G, NM_001204359.1:c.225A>G

Select item 14761185749.

rs1476118574 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:166912641 (GRCh38)
4:167833792 (GRCh37)
Canonical SPDI:: NC_000004.12:166912640:A:G
Gene:: SPOCK3 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.166912641A>G, NC_000004.11:g.167833792A>G, NG_030414.1:g.326950T>C, NM_016950.2:c.462T>C, NM_016950.3:c.462T>C, NM_001040159.2:c.453T>C, NM_001040159.1:c.453T>C, NM_001204358.2:c.453T>C, NM_001204358.1:c.453T>C, NM_001204352.1:c.309T>C, NM_001204352.2:c.309T>C, NM_001204354.1:c.186T>C, NM_001204354.2:c.186T>C, NM_001204356.1:c.453T>C, NM_001204356.2:c.453T>C, NM_001204355.1:c.174T>C, NM_001204355.2:c.174T>C, NM_001204353.1:c.102T>C, XM_017008258.2:c.453T>C, XM_017008258.1:c.453T>C, XM_017008257.2:c.489T>C, XM_017008257.1:c.489T>C, XM_011532018.2:c.462T>C, XM_011532018.1:c.462T>C, NM_001204357.1:c.453T>C, NM_001204359.1:c.462T>C

Select item 147397359610.

rs1473973596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:166734087 (GRCh38)
4:167655238 (GRCh37)
Canonical SPDI:: NC_000004.12:166734086:T:A
Gene:: SPOCK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.166734087T>A, NC_000004.11:g.167655238T>A, NG_030414.1:g.505504A>T, NM_016950.2:c.*834A>T, NM_016950.3:c.*834A>T, NM_001040159.2:c.*834A>T, NM_001040159.1:c.*834A>T, NM_001204352.1:c.*834A>T, NM_001204352.2:c.*834A>T, NM_001204354.1:c.*834A>T, NM_001204354.2:c.*834A>T, NM_001204356.1:c.*834A>T, NM_001204356.2:c.*834A>T, NM_001204355.1:c.*834A>T, NM_001204355.2:c.*834A>T, NM_001204353.1:c.*834A>T, NM_001251967.1:c.*834A>T, NM_001251967.2:c.*834A>T, XM_017008258.2:c.*834A>T, XM_017008258.1:c.*834A>T, XM_017008257.2:c.*834A>T, XM_017008257.1:c.*834A>T, XM_011532018.2:c.*834A>T, XM_011532018.1:c.*834A>T, NM_001204357.1:c.*834A>T

Select item 147268861011.

rs1472688610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:166734830 (GRCh38)
4:167655981 (GRCh37)
Canonical SPDI:: NC_000004.12:166734829:T:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.166734830T>C, NC_000004.11:g.167655981T>C, NG_030414.1:g.504761A>G, NM_016950.2:c.*91A>G, NM_016950.3:c.*91A>G, NM_001040159.2:c.*91A>G, NM_001040159.1:c.*91A>G, NM_001204352.1:c.*91A>G, NM_001204352.2:c.*91A>G, NM_001204354.1:c.*91A>G, NM_001204354.2:c.*91A>G, NM_001204356.1:c.*91A>G, NM_001204356.2:c.*91A>G, NM_001204355.1:c.*91A>G, NM_001204355.2:c.*91A>G, NM_001204353.1:c.*91A>G, NM_001251967.1:c.*91A>G, NM_001251967.2:c.*91A>G, XM_017008258.2:c.*91A>G, XM_017008258.1:c.*91A>G, XM_017008257.2:c.*91A>G, XM_017008257.1:c.*91A>G, XM_011532018.2:c.*91A>G, XM_011532018.1:c.*91A>G, NM_001204357.1:c.*91A>G

Select item 147155135612.

rs1471551356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:166742003 (GRCh38)
4:167663154 (GRCh37)
Canonical SPDI:: NC_000004.12:166742002:G:A,NC_000004.12:166742002:G:C,NC_000004.12:166742002:G:T
Gene:: SPOCK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.166742003G>A, NC_000004.12:g.166742003G>C, NC_000004.12:g.166742003G>T, NC_000004.11:g.167663154G>A, NC_000004.11:g.167663154G>C, NC_000004.11:g.167663154G>T, NG_030414.1:g.497588C>T, NG_030414.1:g.497588C>G, NG_030414.1:g.497588C>A, NM_016950.2:c.997C>T, NM_016950.2:c.997C>G, NM_016950.2:c.997C>A, NM_016950.3:c.997C>T, NM_016950.3:c.997C>G, NM_016950.3:c.997C>A, NM_001040159.2:c.988C>T, NM_001040159.2:c.988C>G, NM_001040159.2:c.988C>A, NM_001040159.1:c.988C>T, NM_001040159.1:c.988C>G, NM_001040159.1:c.988C>A, NM_001204352.1:c.844C>T, NM_001204352.1:c.844C>G, NM_001204352.1:c.844C>A, NM_001204352.2:c.844C>T, NM_001204352.2:c.844C>G, NM_001204352.2:c.844C>A, NM_001204354.1:c.721C>T, NM_001204354.1:c.721C>G, NM_001204354.1:c.721C>A, NM_001204354.2:c.721C>T, NM_001204354.2:c.721C>G, NM_001204354.2:c.721C>A, NM_001204356.1:c.868C>T, NM_001204356.1:c.868C>G, NM_001204356.1:c.868C>A, NM_001204356.2:c.868C>T, NM_001204356.2:c.868C>G, NM_001204356.2:c.868C>A, NM_001204355.1:c.709C>T, NM_001204355.1:c.709C>G, NM_001204355.1:c.709C>A, NM_001204355.2:c.709C>T, NM_001204355.2:c.709C>G, NM_001204355.2:c.709C>A, NM_001204353.1:c.637C>T, NM_001204353.1:c.637C>G, NM_001204353.1:c.637C>A, NM_001251967.1:c.703C>T, NM_001251967.1:c.703C>G, NM_001251967.1:c.703C>A, NM_001251967.2:c.703C>T, NM_001251967.2:c.703C>G, NM_001251967.2:c.703C>A, XM_017008258.2:c.988C>T, XM_017008258.2:c.988C>G, XM_017008258.2:c.988C>A, XM_017008258.1:c.988C>T, XM_017008258.1:c.988C>G, XM_017008258.1:c.988C>A, XM_017008257.2:c.1024C>T, XM_017008257.2:c.1024C>G, XM_017008257.2:c.1024C>A, XM_017008257.1:c.1024C>T, XM_017008257.1:c.1024C>G, XM_017008257.1:c.1024C>A, XM_011532018.2:c.997C>T, XM_011532018.2:c.997C>G, XM_011532018.2:c.997C>A, XM_011532018.1:c.997C>T, XM_011532018.1:c.997C>G, XM_011532018.1:c.997C>A, NM_001204357.1:c.868C>T, NM_001204357.1:c.868C>G, NM_001204357.1:c.868C>A, NP_058646.2:p.Leu333Phe, NP_058646.2:p.Leu333Val, NP_058646.2:p.Leu333Ile, NP_001035249.1:p.Leu330Phe, NP_001035249.1:p.Leu330Val, NP_001035249.1:p.Leu330Ile, NP_001191281.1:p.Leu282Phe, NP_001191281.1:p.Leu282Val, NP_001191281.1:p.Leu282Ile, NP_001191283.1:p.Leu241Phe, NP_001191283.1:p.Leu241Val, NP_001191283.1:p.Leu241Ile, NP_001191285.1:p.Leu290Phe, NP_001191285.1:p.Leu290Val, NP_001191285.1:p.Leu290Ile, NP_001191284.1:p.Leu237Phe, NP_001191284.1:p.Leu237Val, NP_001191284.1:p.Leu237Ile, NP_001191282.1:p.Leu213Phe, NP_001191282.1:p.Leu213Val, NP_001191282.1:p.Leu213Ile, NP_001238896.1:p.Leu235Phe, NP_001238896.1:p.Leu235Val, NP_001238896.1:p.Leu235Ile, XP_016863747.1:p.Leu330Phe, XP_016863747.1:p.Leu330Val, XP_016863747.1:p.Leu330Ile, XP_016863746.1:p.Leu342Phe, XP_016863746.1:p.Leu342Val, XP_016863746.1:p.Leu342Ile, XP_011530320.1:p.Leu333Phe, XP_011530320.1:p.Leu333Val, XP_011530320.1:p.Leu333Ile

Select item 147152640213.

rs1471526402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:166754595 (GRCh38)
4:167675746 (GRCh37)
Canonical SPDI:: NC_000004.12:166754594:T:A,NC_000004.12:166754594:T:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.166754595T>A, NC_000004.12:g.166754595T>C, NC_000004.11:g.167675746T>A, NC_000004.11:g.167675746T>C, NG_030414.1:g.484996A>T, NG_030414.1:g.484996A>G, NM_016950.2:c.853A>T, NM_016950.2:c.853A>G, NM_016950.3:c.853A>T, NM_016950.3:c.853A>G, NM_001040159.2:c.844A>T, NM_001040159.2:c.844A>G, NM_001040159.1:c.844A>T, NM_001040159.1:c.844A>G, NM_001204358.2:c.844A>T, NM_001204358.2:c.844A>G, NM_001204358.1:c.844A>T, NM_001204358.1:c.844A>G, NM_001204352.1:c.700A>T, NM_001204352.1:c.700A>G, NM_001204352.2:c.700A>T, NM_001204352.2:c.700A>G, NM_001204354.1:c.577A>T, NM_001204354.1:c.577A>G, NM_001204354.2:c.577A>T, NM_001204354.2:c.577A>G, NM_001204356.1:c.724A>T, NM_001204356.1:c.724A>G, NM_001204356.2:c.724A>T, NM_001204356.2:c.724A>G, NM_001204355.1:c.565A>T, NM_001204355.1:c.565A>G, NM_001204355.2:c.565A>T, NM_001204355.2:c.565A>G, NM_001204353.1:c.493A>T, NM_001204353.1:c.493A>G, NM_001251967.1:c.559A>T, NM_001251967.1:c.559A>G, NM_001251967.2:c.559A>T, NM_001251967.2:c.559A>G, XM_017008258.2:c.844A>T, XM_017008258.2:c.844A>G, XM_017008258.1:c.844A>T, XM_017008258.1:c.844A>G, XM_017008257.2:c.880A>T, XM_017008257.2:c.880A>G, XM_017008257.1:c.880A>T, XM_017008257.1:c.880A>G, XM_011532018.2:c.853A>T, XM_011532018.2:c.853A>G, XM_011532018.1:c.853A>T, XM_011532018.1:c.853A>G, NM_001204357.1:c.724A>T, NM_001204357.1:c.724A>G, NM_001204359.1:c.853A>T, NM_001204359.1:c.853A>G, NP_058646.2:p.Thr285Ser, NP_058646.2:p.Thr285Ala, NP_001035249.1:p.Thr282Ser, NP_001035249.1:p.Thr282Ala, NP_001191287.1:p.Thr282Ser, NP_001191287.1:p.Thr282Ala, NP_001191281.1:p.Thr234Ser, NP_001191281.1:p.Thr234Ala, NP_001191283.1:p.Thr193Ser, NP_001191283.1:p.Thr193Ala, NP_001191285.1:p.Thr242Ser, NP_001191285.1:p.Thr242Ala, NP_001191284.1:p.Thr189Ser, NP_001191284.1:p.Thr189Ala, NP_001191282.1:p.Thr165Ser, NP_001191282.1:p.Thr165Ala, NP_001238896.1:p.Thr187Ser, NP_001238896.1:p.Thr187Ala, XP_016863747.1:p.Thr282Ser, XP_016863747.1:p.Thr282Ala, XP_016863746.1:p.Thr294Ser, XP_016863746.1:p.Thr294Ala, XP_011530320.1:p.Thr285Ser, XP_011530320.1:p.Thr285Ala

Select item 147125985214.

rs1471259852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:166734656 (GRCh38)
4:167655807 (GRCh37)
Canonical SPDI:: NC_000004.12:166734655:T:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000004.12:g.166734656T>C, NC_000004.11:g.167655807T>C, NG_030414.1:g.504935A>G, NM_016950.2:c.*265A>G, NM_016950.3:c.*265A>G, NM_001040159.2:c.*265A>G, NM_001040159.1:c.*265A>G, NM_001204352.1:c.*265A>G, NM_001204352.2:c.*265A>G, NM_001204354.1:c.*265A>G, NM_001204354.2:c.*265A>G, NM_001204356.1:c.*265A>G, NM_001204356.2:c.*265A>G, NM_001204355.1:c.*265A>G, NM_001204355.2:c.*265A>G, NM_001204353.1:c.*265A>G, NM_001251967.1:c.*265A>G, NM_001251967.2:c.*265A>G, XM_017008258.2:c.*265A>G, XM_017008258.1:c.*265A>G, XM_017008257.2:c.*265A>G, XM_017008257.1:c.*265A>G, XM_011532018.2:c.*265A>G, XM_011532018.1:c.*265A>G, NM_001204357.1:c.*265A>G

Select item 147041499015.

rs1470414990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:167234406 (GRCh38)
4:168155557 (GRCh37)
Canonical SPDI:: NC_000004.12:167234405:C:A,NC_000004.12:167234405:C:T
Gene:: SPOCK3 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_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_000004.12:g.167234406C>A, NC_000004.12:g.167234406C>T, NC_000004.11:g.168155557C>A, NC_000004.11:g.168155557C>T, NG_030414.1:g.5185G>T, NG_030414.1:g.5185G>A, NM_001204353.1:c.-289G>T, NM_001204353.1:c.-289G>A

Select item 146913259316.

rs1469132593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:166733708 (GRCh38)
4:167654859 (GRCh37)
Canonical SPDI:: NC_000004.12:166733707:G:A,NC_000004.12:166733707:G:T
Gene:: SPOCK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00035/6 (TOMMO)
A=0.00164/3 (Korea1K)
HGVS:: NC_000004.12:g.166733708G>A, NC_000004.12:g.166733708G>T, NC_000004.11:g.167654859G>A, NC_000004.11:g.167654859G>T, NG_030414.1:g.505883C>T, NG_030414.1:g.505883C>A, NM_016950.2:c.*1213C>T, NM_016950.2:c.*1213C>A, NM_016950.3:c.*1213C>T, NM_016950.3:c.*1213C>A, NM_001040159.2:c.*1213C>T, NM_001040159.2:c.*1213C>A, NM_001040159.1:c.*1213C>T, NM_001040159.1:c.*1213C>A, NM_001204352.1:c.*1213C>T, NM_001204352.1:c.*1213C>A, NM_001204352.2:c.*1213C>T, NM_001204352.2:c.*1213C>A, NM_001204354.1:c.*1213C>T, NM_001204354.1:c.*1213C>A, NM_001204354.2:c.*1213C>T, NM_001204354.2:c.*1213C>A, NM_001204356.1:c.*1213C>T, NM_001204356.1:c.*1213C>A, NM_001204356.2:c.*1213C>T, NM_001204356.2:c.*1213C>A, NM_001204355.1:c.*1213C>T, NM_001204355.1:c.*1213C>A, NM_001204355.2:c.*1213C>T, NM_001204355.2:c.*1213C>A, NM_001204353.1:c.*1213C>T, NM_001204353.1:c.*1213C>A, NM_001251967.1:c.*1213C>T, NM_001251967.1:c.*1213C>A, NM_001251967.2:c.*1213C>T, NM_001251967.2:c.*1213C>A, XM_017008258.2:c.*1213C>T, XM_017008258.2:c.*1213C>A, XM_017008258.1:c.*1213C>T, XM_017008258.1:c.*1213C>A, XM_017008257.2:c.*1213C>T, XM_017008257.2:c.*1213C>A, XM_017008257.1:c.*1213C>T, XM_017008257.1:c.*1213C>A, XM_011532018.2:c.*1213C>T, XM_011532018.2:c.*1213C>A, XM_011532018.1:c.*1213C>T, XM_011532018.1:c.*1213C>A, NM_001204357.1:c.*1213C>T, NM_001204357.1:c.*1213C>A

Select item 146902189917.

rs1469021899 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:166912729 (GRCh38)
4:167833880 (GRCh37)
Canonical SPDI:: NC_000004.12:166912728:C:T
Gene:: SPOCK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_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_000004.12:g.166912729C>T, NC_000004.11:g.167833880C>T, NG_030414.1:g.326862G>A, NM_016950.2:c.374G>A, NM_016950.3:c.374G>A, NM_001040159.2:c.365G>A, NM_001040159.1:c.365G>A, NM_001204358.2:c.365G>A, NM_001204358.1:c.365G>A, NM_001204352.1:c.221G>A, NM_001204352.2:c.221G>A, NM_001204354.1:c.98G>A, NM_001204354.2:c.98G>A, NM_001204356.1:c.365G>A, NM_001204356.2:c.365G>A, NM_001204355.1:c.86G>A, NM_001204355.2:c.86G>A, NM_001204353.1:c.14G>A, XM_017008258.2:c.365G>A, XM_017008258.1:c.365G>A, XM_017008257.2:c.401G>A, XM_017008257.1:c.401G>A, XM_011532018.2:c.374G>A, XM_011532018.1:c.374G>A, NM_001204357.1:c.365G>A, NM_001204359.1:c.374G>A, NP_058646.2:p.Gly125Glu, NP_001035249.1:p.Gly122Glu, NP_001191287.1:p.Gly122Glu, NP_001191281.1:p.Gly74Glu, NP_001191283.1:p.Gly33Glu, NP_001191285.1:p.Gly122Glu, NP_001191284.1:p.Gly29Glu, NP_001191282.1:p.Gly5Glu, XP_016863747.1:p.Gly122Glu, XP_016863746.1:p.Gly134Glu, XP_011530320.1:p.Gly125Glu

Select item 146860660418.

rs1468606604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:166912631 (GRCh38)
4:167833782 (GRCh37)
Canonical SPDI:: NC_000004.12:166912630:A:G
Gene:: SPOCK3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.166912631A>G, NC_000004.11:g.167833782A>G, NG_030414.1:g.326960T>C, NM_016950.2:c.472T>C, NM_016950.3:c.472T>C, NM_001040159.2:c.463T>C, NM_001040159.1:c.463T>C, NM_001204358.2:c.463T>C, NM_001204358.1:c.463T>C, NM_001204352.1:c.319T>C, NM_001204352.2:c.319T>C, NM_001204354.1:c.196T>C, NM_001204354.2:c.196T>C, NM_001204356.1:c.463T>C, NM_001204356.2:c.463T>C, NM_001204355.1:c.184T>C, NM_001204355.2:c.184T>C, NM_001204353.1:c.112T>C, XM_017008258.2:c.463T>C, XM_017008258.1:c.463T>C, XM_017008257.2:c.499T>C, XM_017008257.1:c.499T>C, XM_011532018.2:c.472T>C, XM_011532018.1:c.472T>C, NM_001204357.1:c.463T>C, NM_001204359.1:c.472T>C, NP_058646.2:p.Tyr158His, NP_001035249.1:p.Tyr155His, NP_001191287.1:p.Tyr155His, NP_001191281.1:p.Tyr107His, NP_001191283.1:p.Tyr66His, NP_001191285.1:p.Tyr155His, NP_001191284.1:p.Tyr62His, NP_001191282.1:p.Tyr38His, XP_016863747.1:p.Tyr155His, XP_016863746.1:p.Tyr167His, XP_011530320.1:p.Tyr158His

Select item 146852150819.

rs1468521508 has merged into rs1336524835 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:166733798 (GRCh38)
4:167654949 (GRCh37)
Canonical SPDI:: NC_000004.12:166733797:AAAAAAA:AAAAAA,NC_000004.12:166733797:AAAAAAA:AAAAAAAA
Gene:: SPOCK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.166733804del, NC_000004.12:g.166733804dup, NC_000004.11:g.167654955del, NC_000004.11:g.167654955dup, NG_030414.1:g.505793del, NG_030414.1:g.505793dup, NM_016950.2:c.*1123del, NM_016950.2:c.*1123dup, NM_016950.3:c.*1123del, NM_016950.3:c.*1123dup, NM_001040159.2:c.*1123del, NM_001040159.2:c.*1123dup, NM_001040159.1:c.*1123del, NM_001040159.1:c.*1123dup, NM_001204352.1:c.*1123del, NM_001204352.1:c.*1123dup, NM_001204352.2:c.*1123del, NM_001204352.2:c.*1123dup, NM_001204354.1:c.*1123del, NM_001204354.1:c.*1123dup, NM_001204354.2:c.*1123del, NM_001204354.2:c.*1123dup, NM_001204356.1:c.*1123del, NM_001204356.1:c.*1123dup, NM_001204356.2:c.*1123del, NM_001204356.2:c.*1123dup, NM_001204355.1:c.*1123del, NM_001204355.1:c.*1123dup, NM_001204355.2:c.*1123del, NM_001204355.2:c.*1123dup, NM_001204353.1:c.*1123del, NM_001204353.1:c.*1123dup, NM_001251967.1:c.*1123del, NM_001251967.1:c.*1123dup, NM_001251967.2:c.*1123del, NM_001251967.2:c.*1123dup, XM_017008258.2:c.*1123del, XM_017008258.2:c.*1123dup, XM_017008258.1:c.*1123del, XM_017008258.1:c.*1123dup, XM_017008257.2:c.*1123del, XM_017008257.2:c.*1123dup, XM_017008257.1:c.*1123del, XM_017008257.1:c.*1123dup, XM_011532018.2:c.*1123del, XM_011532018.2:c.*1123dup, XM_011532018.1:c.*1123del, XM_011532018.1:c.*1123dup, NM_001204357.1:c.*1123del, NM_001204357.1:c.*1123dup

Select item 146608723920.

rs1466087239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:166733490 (GRCh38)
4:167654641 (GRCh37)
Canonical SPDI:: NC_000004.12:166733489:T:C
Gene:: SPOCK3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.166733490T>C, NC_000004.11:g.167654641T>C, NG_030414.1:g.506101A>G, NM_016950.2:c.*1431A>G, NM_016950.3:c.*1431A>G, NM_001040159.2:c.*1431A>G, NM_001040159.1:c.*1431A>G, NM_001204352.1:c.*1431A>G, NM_001204352.2:c.*1431A>G, NM_001204354.1:c.*1431A>G, NM_001204354.2:c.*1431A>G, NM_001204356.1:c.*1431A>G, NM_001204356.2:c.*1431A>G, NM_001204355.1:c.*1431A>G, NM_001204355.2:c.*1431A>G, NM_001204353.1:c.*1431A>G, NM_001251967.1:c.*1431A>G, NM_001251967.2:c.*1431A>G, XM_017008258.2:c.*1431A>G, XM_017008258.1:c.*1431A>G, XM_017008257.2:c.*1431A>G, XM_017008257.1:c.*1431A>G, XM_011532018.2:c.*1431A>G, XM_011532018.1:c.*1431A>G, NM_001204357.1:c.*1431A>G

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SNP Links for Nucleotide (Select 324072824) (749)
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