SNP Links for Nucleotide (Select 299829291) - SNP

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Links from Nucleotide

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Select item 14893314661.

rs1489331466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:101348386 (GRCh38)
4:102269543 (GRCh37)
Canonical SPDI:: NC_000004.12:101348385:G:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.101348386G>T, NC_000004.11:g.102269543G>T, NR_033874.1:n.296G>T

Select item 14892639032.

rs1489263903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:101347948 (GRCh38)
4:102269105 (GRCh37)
Canonical SPDI:: NC_000004.12:101347947:C:A
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.101347948C>A, NC_000004.11:g.102269105C>A, NR_033874.1:n.172C>A

Select item 14883518903.

rs1488351890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101348767 (GRCh38)
4:102269924 (GRCh37)
Canonical SPDI:: NC_000004.12:101348766:A:G
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.101348767A>G, NC_000004.11:g.102269924A>G, NR_033874.1:n.677A>G

Select item 14799359064.

rs1479935906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:101348329 (GRCh38)
4:102269486 (GRCh37)
Canonical SPDI:: NC_000004.12:101348328:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.101348329C>T, NC_000004.11:g.102269486C>T, NR_033874.1:n.239C>T

Select item 14793317585.

rs1479331758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:101348837 (GRCh38)
4:102269994 (GRCh37)
Canonical SPDI:: NC_000004.12:101348836:T:C
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000004.12:g.101348837T>C, NC_000004.11:g.102269994T>C, NR_033874.1:n.747T>C

Select item 14791548656.

rs1479154865 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:101348735 (GRCh38)
4:102269892 (GRCh37)
Canonical SPDI:: NC_000004.12:101348732:CACA:CA
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.101348733CA[1], NC_000004.11:g.102269890CA[1], NR_033874.1:n.643CA[1]

Select item 14791040537.

rs1479104053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:101347916 (GRCh38)
4:102269073 (GRCh37)
Canonical SPDI:: NC_000004.12:101347915:C:A
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_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_000004.12:g.101347916C>A, NC_000004.11:g.102269073C>A, NR_033874.1:n.140C>A

Select item 14733152368.

rs1473315236 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 4:101348393 (GRCh38)
4:102269550 (GRCh37)
Canonical SPDI:: NC_000004.12:101348392:CCCC:CCC
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.101348396del, NC_000004.11:g.102269553del, NR_033874.1:n.306del

Select item 14727369239.

rs1472736923 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:101347805 (GRCh38)
4:102268962 (GRCh37)
Canonical SPDI:: NC_000004.12:101347804:C:A,NC_000004.12:101347804:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000142/2 (TOMMO)
HGVS:: NC_000004.12:g.101347805C>A, NC_000004.12:g.101347805C>T, NC_000004.11:g.102268962C>A, NC_000004.11:g.102268962C>T, NR_033874.1:n.29C>A, NR_033874.1:n.29C>T

Select item 146546077110.

rs1465460771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 4:101347784 (GRCh38)
4:102268941 (GRCh37)
Canonical SPDI:: NC_000004.12:101347783:C:A,NC_000004.12:101347783:C:G,NC_000004.12:101347783:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00034/1 (KOREAN)
HGVS:: NC_000004.12:g.101347784C>A, NC_000004.12:g.101347784C>G, NC_000004.12:g.101347784C>T, NC_000004.11:g.102268941C>A, NC_000004.11:g.102268941C>G, NC_000004.11:g.102268941C>T, NR_033874.1:n.8C>A, NR_033874.1:n.8C>G, NR_033874.1:n.8C>T

Select item 146144761211.

rs1461447612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101348876 (GRCh38)
4:102270033 (GRCh37)
Canonical SPDI:: NC_000004.12:101348875:A:G
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_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_000004.12:g.101348876A>G, NC_000004.11:g.102270033A>G, NR_033874.1:n.786A>G

Select item 146131589712.

rs1461315897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:101348702 (GRCh38)
4:102269859 (GRCh37)
Canonical SPDI:: NC_000004.12:101348701:G:A
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,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)
A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.101348702G>A, NC_000004.11:g.102269859G>A, NR_033874.1:n.612G>A

Select item 146112119413.

rs1461121194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:101348580 (GRCh38)
4:102269737 (GRCh37)
Canonical SPDI:: NC_000004.12:101348579:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000015/2 (GnomAD_exomes)
T=0.000177/3 (TOMMO)
HGVS:: NC_000004.12:g.101348580C>T, NC_000004.11:g.102269737C>T, NR_033874.1:n.490C>T

Select item 146099559614.

rs1460995596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:101348464 (GRCh38)
4:102269621 (GRCh37)
Canonical SPDI:: NC_000004.12:101348463:G:A
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.101348464G>A, NC_000004.11:g.102269621G>A, NR_033874.1:n.374G>A

Select item 145747829915.

rs1457478299 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:101348527 (GRCh38)
4:102269684 (GRCh37)
Canonical SPDI:: NC_000004.12:101348526:C:A,NC_000004.12:101348526:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.101348527C>A, NC_000004.12:g.101348527C>T, NC_000004.11:g.102269684C>A, NC_000004.11:g.102269684C>T, NR_033874.1:n.437C>A, NR_033874.1:n.437C>T

Select item 145358562716.

rs1453585627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:101347813 (GRCh38)
4:102268970 (GRCh37)
Canonical SPDI:: NC_000004.12:101347812:T:C
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.101347813T>C, NC_000004.11:g.102268970T>C, NR_033874.1:n.37T>C

Select item 144408148517.

rs1444081485 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:101348570 (GRCh38)
4:102269727 (GRCh37)
Canonical SPDI:: NC_000004.12:101348569:A:G
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.101348570A>G, NC_000004.11:g.102269727A>G, NR_033874.1:n.480A>G

Select item 144327469118.

rs1443274691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:101348487 (GRCh38)
4:102269644 (GRCh37)
Canonical SPDI:: NC_000004.12:101348486:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.101348487C>T, NC_000004.11:g.102269644C>T, NR_033874.1:n.397C>T

Select item 144240322219.

rs1442403222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:101347781 (GRCh38)
4:102268938 (GRCh37)
Canonical SPDI:: NC_000004.12:101347780:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.101347781C>T, NC_000004.11:g.102268938C>T, NR_033874.1:n.5C>T

Select item 143874873420.

rs1438748734 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:101348627 (GRCh38)
4:102269784 (GRCh37)
Canonical SPDI:: NC_000004.12:101348626:C:A,NC_000004.12:101348626:C:T
Gene:: PPP3CA (Varview), FLJ20021 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.101348627C>A, NC_000004.12:g.101348627C>T, NC_000004.11:g.102269784C>A, NC_000004.11:g.102269784C>T, NR_033874.1:n.537C>A, NR_033874.1:n.537C>T

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