SNP Links for Gene (Select 100133251) - SNP

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Select item 14907968391.

rs1490796839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:7785613 (GRCh38)
8:7643135 (GRCh37)
Canonical SPDI:: NC_000008.11:7785612:C:G
Gene:: PRR23D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7785613C>G, NC_000008.10:g.7643135C>G, NW_018654717.1:g.683923C>G

Select item 14899651072.

rs1489965107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7786103 (GRCh38)
8:7643625 (GRCh37)
Canonical SPDI:: NC_000008.11:7786102:T:G
Gene:: PRR23D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7786103T>G, NC_000008.10:g.7643625T>G, NW_018654717.1:g.684414T>G

Select item 14893355563.

rs1489335556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:7780112 (GRCh38)
8:7637634 (GRCh37)
Canonical SPDI:: NC_000008.11:7780111:G:A,NC_000008.11:7780111:G:T
Gene:: PRR23D2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00019/3 (GnomAD)
HGVS:: NC_000008.11:g.7780112G>A, NC_000008.11:g.7780112G>T, NC_000008.10:g.7637634G>A, NC_000008.10:g.7637634G>T, NW_018654717.1:g.678423G>A, NW_018654717.1:g.678423G>T

Select item 14893033064.

rs1489303306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:7784477 (GRCh38)
8:7641999 (GRCh37)
Canonical SPDI:: NC_000008.11:7784476:T:C
Gene:: PRR23D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7784477T>C, NC_000008.10:g.7641999T>C, NW_018654717.1:g.682787T>C

Select item 14888604265.

rs1488860426 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 8:7784130 (GRCh38)
8:7641652 (GRCh37)
Canonical SPDI:: NC_000008.11:7784129:CC:C
Gene:: PRR23D2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.7784131del, NC_000008.10:g.7641653del, NW_018654717.1:g.682442del, XM_011543811.3:c.-729del, XM_011543811.2:c.-729del, XM_011543811.1:c.-729del

Select item 14887588976.

rs1488758897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:7783639 (GRCh38)
8:7641161 (GRCh37)
Canonical SPDI:: NC_000008.11:7783638:A:C
Gene:: PRR23D2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7783639A>C, NC_000008.10:g.7641161A>C, NW_018654717.1:g.681950A>C, XM_011543811.3:c.-238T>G, XM_011543811.2:c.-238T>G, XM_011543811.1:c.-238T>G

Select item 14882023287.

rs1488202328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7785284 (GRCh38)
8:7642806 (GRCh37)
Canonical SPDI:: NC_000008.11:7785283:G:A
Gene:: PRR23D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00031/8 (TOMMO)
HGVS:: NC_000008.11:g.7785284G>A, NC_000008.10:g.7642806G>A, NW_018654717.1:g.683594G>A

Select item 14875823398.

rs1487582339 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:7784083 (GRCh38)
8:7641605 (GRCh37)
Canonical SPDI:: NC_000008.11:7784082:A:G
Gene:: PRR23D2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.7784083A>G, NC_000008.10:g.7641605A>G, NW_018654717.1:g.682394A>G, XM_011543811.3:c.-682T>C, XM_011543811.2:c.-682T>C, XM_011543811.1:c.-682T>C

Select item 14872488059.

rs1487248805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:7785702 (GRCh38)
8:7643224 (GRCh37)
Canonical SPDI:: NC_000008.11:7785701:G:C,NC_000008.11:7785701:G:T
Gene:: PRR23D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7785702G>C, NC_000008.11:g.7785702G>T, NC_000008.10:g.7643224G>C, NC_000008.10:g.7643224G>T, NW_018654717.1:g.684012G>C, NW_018654717.1:g.684012G>T

Select item 148711467110.

rs1487114671 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:7783929 (GRCh38)
8:7641451 (GRCh37)
Canonical SPDI:: NC_000008.11:7783928:C:A
Gene:: PRR23D2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.7783929C>A, NC_000008.10:g.7641451C>A, NW_018654717.1:g.682240C>A, XM_011543811.3:c.-528G>T, XM_011543811.2:c.-528G>T, XM_011543811.1:c.-528G>T

Select item 148689661711.

rs1486896617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7783645 (GRCh38)
8:7641167 (GRCh37)
Canonical SPDI:: NC_000008.11:7783644:C:T
Gene:: PRR23D2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.7783645C>T, NC_000008.10:g.7641167C>T, NW_018654717.1:g.681956C>T, XM_011543811.3:c.-244G>A, XM_011543811.2:c.-244G>A, XM_011543811.1:c.-244G>A

Select item 148679331612.

rs1486793316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:7783079 (GRCh38)
8:7640601 (GRCh37)
Canonical SPDI:: NC_000008.11:7783078:G:C
Gene:: PRR23D2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.7783079G>C, NC_000008.10:g.7640601G>C, NW_018654717.1:g.681390G>C

Select item 148646853113.

rs1486468531 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7785372 (GRCh38)
8:7642894 (GRCh37)
Canonical SPDI:: NC_000008.11:7785371:G:A
Gene:: PRR23D2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.7785372G>A, NC_000008.10:g.7642894G>A, NW_018654717.1:g.683682G>A

Select item 148621807014.

rs1486218070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:7783073 (GRCh38)
8:7640595 (GRCh37)
Canonical SPDI:: NC_000008.11:7783072:C:A,NC_000008.11:7783072:C:G
Gene:: PRR23D2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000212/4 (TOMMO)
A=0.000312/2 (1000Genomes)
G=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.7783073C>A, NC_000008.11:g.7783073C>G, NC_000008.10:g.7640595C>A, NC_000008.10:g.7640595C>G, NW_018654717.1:g.681384C>A, NW_018654717.1:g.681384C>G

Select item 148617542415.

rs1486175424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:7784028 (GRCh38)
8:7641550 (GRCh37)
Canonical SPDI:: NC_000008.11:7784027:A:T
Gene:: PRR23D2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000008.11:g.7784028A>T, NC_000008.10:g.7641550A>T, NW_018654717.1:g.682339A>T, XM_011543811.3:c.-627T>A, XM_011543811.2:c.-627T>A, XM_011543811.1:c.-627T>A

Select item 148616645116.

rs1486166451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:7784610 (GRCh38)
8:7642132 (GRCh37)
Canonical SPDI:: NC_000008.11:7784609:G:A
Gene:: PRR23D2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.00007/1 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000008.11:g.7784610G>A, NC_000008.10:g.7642132G>A, NW_018654717.1:g.682920G>A

Select item 148579681817.

rs1485796818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:7782762 (GRCh38)
8:7640284 (GRCh37)
Canonical SPDI:: NC_000008.11:7782761:T:G
Gene:: PRR23D2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.7782762T>G, NC_000008.10:g.7640284T>G, NW_018654717.1:g.681073T>G

Select item 148522889818.

rs1485228898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:7781681 (GRCh38)
8:7639203 (GRCh37)
Canonical SPDI:: NC_000008.11:7781680:C:T
Gene:: PRR23D2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.7781681C>T, NC_000008.10:g.7639203C>T, NW_018654717.1:g.679992C>T

Select item 148516092219.

rs1485160922 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:7783388 (GRCh38)
8:7640910 (GRCh37)
Canonical SPDI:: NC_000008.11:7783387:T:A
Gene:: PRR23D2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.7783388T>A, NC_000008.10:g.7640910T>A, NW_018654717.1:g.681699T>A

Select item 148393255320.

rs1483932553 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 8:7785536 (GRCh38)
8:7643058 (GRCh37)
Canonical SPDI:: NC_000008.11:7785535:A:C,NC_000008.11:7785535:A:G
Gene:: PRR23D2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.7785536A>C, NC_000008.11:g.7785536A>G, NC_000008.10:g.7643058A>C, NC_000008.10:g.7643058A>G, NW_018654717.1:g.683846A>C, NW_018654717.1:g.683846A>G

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