TPI1P2 - SNP

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Select item 22420281.

rs2242028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:129054922 (GRCh38)
7:128694976 (GRCh37)
Canonical SPDI:: NC_000007.14:129054921:C:A,NC_000007.14:129054921:C:G,NC_000007.14:129054921:C:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.256682/4648 (ALFA)
T=0.005618/3 (MGP)
C=0.125/27 (Qatari)
C=0.166667/7 (Siberian)
C=0.209419/209 (GoNL)
C=0.225/135 (NorthernSweden)
C=0.225728/837 (TWINSUK)
C=0.225999/871 (ALSPAC)
C=0.236842/108 (SGDP_PRJ)
C=0.239955/1075 (Estonian)
C=0.273475/38298 (GnomAD)
C=0.275/11 (GENOME_DK)
C=0.28646/75823 (TOPMED)
C=0.357745/1792 (1000Genomes)
C=0.473253/867 (Korea1K)
C=0.483618/1417 (KOREAN)
T=0.484889/8126 (TOMMO)
C=0.5/107 (Vietnamese)
HGVS:: NC_000007.14:g.129054922C>A, NC_000007.14:g.129054922C>G, NC_000007.14:g.129054922C>T, NC_000007.13:g.128694976C>A, NC_000007.13:g.128694976C>G, NC_000007.13:g.128694976C>T, NG_023428.1:g.5252G>T, NG_023428.1:g.5252G>C, NG_023428.1:g.5252G>A, NM_012470.4:c.-152G>T, NM_012470.4:c.-152G>C, NM_012470.4:c.-152G>A, NM_012470.3:c.-152G>T, NM_012470.3:c.-152G>C, NM_012470.3:c.-152G>A, NR_034053.3:n.190G>T, NR_034053.3:n.190G>C, NR_034053.3:n.190G>A, NR_034053.2:n.252G>T, NR_034053.2:n.252G>C, NR_034053.2:n.252G>A, NM_001191028.3:c.-152G>T, NM_001191028.3:c.-152G>C, NM_001191028.3:c.-152G>A, NM_001191028.2:c.-152G>T, NM_001191028.2:c.-152G>C, NM_001191028.2:c.-152G>A, NR_167915.1:n.190G>T, NR_167915.1:n.190G>C, NR_167915.1:n.190G>A, NR_167921.1:n.190G>T, NR_167921.1:n.190G>C, NR_167921.1:n.190G>A, NR_167918.1:n.190G>T, NR_167918.1:n.190G>C, NR_167918.1:n.190G>A, NR_167911.1:n.190G>T, NR_167911.1:n.190G>C, NR_167911.1:n.190G>A, NR_167927.1:n.190G>T, NR_167927.1:n.190G>C, NR_167927.1:n.190G>A, NR_167924.1:n.190G>T, NR_167924.1:n.190G>C, NR_167924.1:n.190G>A, NR_167919.1:n.190G>T, NR_167919.1:n.190G>C, NR_167919.1:n.190G>A, NR_167922.1:n.190G>T, NR_167922.1:n.190G>C, NR_167922.1:n.190G>A, NR_167912.1:n.190G>T, NR_167912.1:n.190G>C, NR_167912.1:n.190G>A, NM_001382216.1:c.-152G>T, NM_001382216.1:c.-152G>C, NM_001382216.1:c.-152G>A, NR_167920.1:n.190G>T, NR_167920.1:n.190G>C, NR_167920.1:n.190G>A, NM_001382217.1:c.-152G>T, NM_001382217.1:c.-152G>C, NM_001382217.1:c.-152G>A, NR_167914.1:n.190G>T, NR_167914.1:n.190G>C, NR_167914.1:n.190G>A, NR_167926.1:n.190G>T, NR_167926.1:n.190G>C, NR_167926.1:n.190G>A, NR_167925.1:n.190G>T, NR_167925.1:n.190G>C, NR_167925.1:n.190G>A, NR_167923.1:n.190G>T, NR_167923.1:n.190G>C, NR_167923.1:n.190G>A, NR_167913.1:n.190G>T, NR_167913.1:n.190G>C, NR_167913.1:n.190G>A, NM_001382218.1:c.-152G>T, NM_001382218.1:c.-152G>C, NM_001382218.1:c.-152G>A, NM_001382219.1:c.-152G>T, NM_001382219.1:c.-152G>C, NM_001382219.1:c.-152G>A, NM_001382220.1:c.-152G>T, NM_001382220.1:c.-152G>C, NM_001382220.1:c.-152G>A, NM_001382221.1:c.-152G>T, NM_001382221.1:c.-152G>C, NM_001382221.1:c.-152G>A, NM_001382222.1:c.-152G>T, NM_001382222.1:c.-152G>C, NM_001382222.1:c.-152G>A, NR_167917.1:n.190G>T, NR_167917.1:n.190G>C, NR_167917.1:n.190G>A, NR_167916.1:n.190G>T, NR_167916.1:n.190G>C, NR_167916.1:n.190G>A, NM_001382223.1:c.-152G>T, NM_001382223.1:c.-152G>C, NM_001382223.1:c.-152G>A

Select item 22420292.

rs2242029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:129055225 (GRCh38)
7:128695279 (GRCh37)
Canonical SPDI:: NC_000007.14:129055224:A:G,NC_000007.14:129055224:A:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.215123/7559 (ALFA)
A=0.092593/20 (Qatari)
A=0.154309/154 (GoNL)
A=0.166667/7 (Siberian)
A=0.175836/652 (TWINSUK)
A=0.179325/85 (SGDP_PRJ)
A=0.179911/806 (Estonian)
A=0.181111/698 (ALSPAC)
A=0.191667/115 (NorthernSweden)
A=0.213422/29880 (GnomAD)
A=0.231561/61292 (TOPMED)
A=0.28935/1449 (1000Genomes)
A=0.3/12 (GENOME_DK)
A=0.390284/715 (Korea1K)
A=0.399317/1170 (KOREAN)
A=0.404255/76 (HapMap)
A=0.440725/7386 (TOMMO)
HGVS:: NC_000007.14:g.129055225A>G, NC_000007.14:g.129055225A>T, NC_000007.13:g.128695279A>G, NC_000007.13:g.128695279A>T, NG_023428.1:g.4949T>C, NG_023428.1:g.4949T>A, NR_002187.3:n.3A>G, NR_002187.3:n.3A>T

Select item 102660773.

rs10266077 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 7:129054467 (GRCh38)
7:128694521 (GRCh37)
Canonical SPDI:: NC_000007.14:129054466:G:A,NC_000007.14:129054466:G:C,NC_000007.14:129054466:G:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.01389/3 (Qatari)
C=0.01562/78 (1000Genomes)
C=0.0184/6 (HapMap)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129054467G>A, NC_000007.14:g.129054467G>C, NC_000007.14:g.129054467G>T, NC_000007.13:g.128694521G>A, NC_000007.13:g.128694521G>C, NC_000007.13:g.128694521G>T, NG_023428.1:g.5707C>T, NG_023428.1:g.5707C>G, NG_023428.1:g.5707C>A

Select item 1146660554.

rs114666055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 7:129055497 (GRCh38)
7:128695551 (GRCh37)
Canonical SPDI:: NC_000007.14:129055496:T:A,NC_000007.14:129055496:T:C
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant,non_coding_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001092/16 (ALFA)
C=0.00463/1 (Qatari)
C=0.004933/692 (GnomAD)
C=0.006715/34 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129055497T>A, NC_000007.14:g.129055497T>C, NC_000007.13:g.128695551T>A, NC_000007.13:g.128695551T>C, NG_023428.1:g.4677A>T, NG_023428.1:g.4677A>G, NR_002187.3:n.275T>A, NR_002187.3:n.275T>C, NM_203419.1:c.-522T>A, NM_203419.1:c.-522T>C

Select item 1382637035.

rs138263703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129054741 (GRCh38)
7:128694795 (GRCh37)
Canonical SPDI:: NC_000007.14:129054740:G:A
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign,conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000048/12 (GnomAD_exomes)
A=0.000074/9 (ExAC)
A=0.000136/36 (TOPMED)
A=0.000164/23 (GnomAD)
A=0.000231/3 (GoESP)
HGVS:: NC_000007.14:g.129054741G>A, NC_000007.13:g.128694795G>A, NG_023428.1:g.5433C>T, NM_012470.4:c.30C>T, NM_012470.3:c.30C>T, NR_034053.3:n.371C>T, NR_034053.2:n.433C>T, NM_001191028.3:c.30C>T, NM_001191028.2:c.30C>T, NR_167915.1:n.371C>T, NR_167921.1:n.371C>T, NR_167918.1:n.371C>T, NR_167911.1:n.371C>T, NR_167927.1:n.371C>T, NR_167924.1:n.371C>T, NR_167919.1:n.371C>T, NR_167922.1:n.371C>T, NR_167912.1:n.371C>T, NM_001382216.1:c.30C>T, NR_167920.1:n.371C>T, NM_001382217.1:c.30C>T, NR_167914.1:n.371C>T, NR_167926.1:n.371C>T, NR_167925.1:n.371C>T, NR_167923.1:n.371C>T, NR_167913.1:n.371C>T, NM_001382218.1:c.30C>T, NM_001382219.1:c.30C>T, NM_001382220.1:c.30C>T, NM_001382221.1:c.30C>T, NM_001382222.1:c.30C>T, NR_167917.1:n.371C>T, NR_167916.1:n.371C>T, NM_001382223.1:c.30C>T

Select item 2016367236.

rs201636723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:129054779 (GRCh38)
7:128694833 (GRCh37)
Canonical SPDI:: NC_000007.14:129054778:C:A,NC_000007.14:129054778:C:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/5 (ALFA)
T=0.000673/169 (GnomAD_exomes)
T=0.000768/93 (ExAC)
T=0.002811/14 (1000Genomes)
T=0.002845/37 (GoESP)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.129054779C>A, NC_000007.14:g.129054779C>T, NC_000007.13:g.128694833C>A, NC_000007.13:g.128694833C>T, NG_023428.1:g.5395G>T, NG_023428.1:g.5395G>A, NM_012470.4:c.-9G>T, NM_012470.4:c.-9G>A, NM_012470.3:c.-9G>T, NM_012470.3:c.-9G>A, NR_034053.3:n.333G>T, NR_034053.3:n.333G>A, NR_034053.2:n.395G>T, NR_034053.2:n.395G>A, NM_001191028.3:c.-9G>T, NM_001191028.3:c.-9G>A, NM_001191028.2:c.-9G>T, NM_001191028.2:c.-9G>A, NR_167915.1:n.333G>T, NR_167915.1:n.333G>A, NR_167921.1:n.333G>T, NR_167921.1:n.333G>A, NR_167918.1:n.333G>T, NR_167918.1:n.333G>A, NR_167911.1:n.333G>T, NR_167911.1:n.333G>A, NR_167927.1:n.333G>T, NR_167927.1:n.333G>A, NR_167924.1:n.333G>T, NR_167924.1:n.333G>A, NR_167919.1:n.333G>T, NR_167919.1:n.333G>A, NR_167922.1:n.333G>T, NR_167922.1:n.333G>A, NR_167912.1:n.333G>T, NR_167912.1:n.333G>A, NM_001382216.1:c.-9G>T, NM_001382216.1:c.-9G>A, NR_167920.1:n.333G>T, NR_167920.1:n.333G>A, NM_001382217.1:c.-9G>T, NM_001382217.1:c.-9G>A, NR_167914.1:n.333G>T, NR_167914.1:n.333G>A, NR_167926.1:n.333G>T, NR_167926.1:n.333G>A, NR_167925.1:n.333G>T, NR_167925.1:n.333G>A, NR_167923.1:n.333G>T, NR_167923.1:n.333G>A, NR_167913.1:n.333G>T, NR_167913.1:n.333G>A, NM_001382218.1:c.-9G>T, NM_001382218.1:c.-9G>A, NM_001382219.1:c.-9G>T, NM_001382219.1:c.-9G>A, NM_001382220.1:c.-9G>T, NM_001382220.1:c.-9G>A, NM_001382221.1:c.-9G>T, NM_001382221.1:c.-9G>A, NM_001382222.1:c.-9G>T, NM_001382222.1:c.-9G>A, NR_167917.1:n.333G>T, NR_167917.1:n.333G>A, NR_167916.1:n.333G>T, NR_167916.1:n.333G>A, NM_001382223.1:c.-9G>T, NM_001382223.1:c.-9G>A

Select item 3729060027.

rs372906002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:129054642 (GRCh38)
7:128694696 (GRCh37)
Canonical SPDI:: NC_000007.14:129054641:G:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000104/26 (GnomAD_exomes)
T=0.000142/17 (ExAC)
T=0.000312/2 (1000Genomes)
T=0.000384/5 (GoESP)
T=0.00045/119 (TOPMED)
T=0.000478/67 (GnomAD)
HGVS:: NC_000007.14:g.129054642G>T, NC_000007.13:g.128694696G>T, NG_023428.1:g.5532C>A

Select item 7466570438.

rs746657043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:129054667 (GRCh38)
7:128694721 (GRCh37)
Canonical SPDI:: NC_000007.14:129054666:C:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.129054667C>T, NC_000007.13:g.128694721C>T, NG_023428.1:g.5507G>A, NM_012470.4:c.104G>A, NM_012470.3:c.104G>A, NR_034053.3:n.445G>A, NR_034053.2:n.507G>A, NM_001191028.3:c.104G>A, NM_001191028.2:c.104G>A, NR_167915.1:n.445G>A, NR_167921.1:n.445G>A, NR_167918.1:n.445G>A, NR_167911.1:n.445G>A, NR_167927.1:n.445G>A, NR_167924.1:n.445G>A, NR_167919.1:n.445G>A, NR_167922.1:n.445G>A, NR_167912.1:n.445G>A, NM_001382216.1:c.104G>A, NR_167920.1:n.445G>A, NM_001382217.1:c.104G>A, NR_167914.1:n.445G>A, NR_167926.1:n.445G>A, NR_167925.1:n.445G>A, NR_167923.1:n.445G>A, NR_167913.1:n.445G>A, NM_001382218.1:c.104G>A, NM_001382219.1:c.104G>A, NM_001382220.1:c.104G>A, NM_001382221.1:c.104G>A, NM_001382222.1:c.104G>A, NR_167917.1:n.445G>A, NR_167916.1:n.445G>A, NM_001382223.1:c.104G>A, NP_036602.1:p.Gly35Glu, NP_001177957.2:p.Gly35Glu, NP_001369145.1:p.Gly35Glu, NP_001369146.1:p.Gly35Glu, NP_001369147.1:p.Gly35Glu, NP_001369148.1:p.Gly35Glu, NP_001369149.1:p.Gly35Glu, NP_001369150.1:p.Gly35Glu, NP_001369151.1:p.Gly35Glu, NP_001369152.1:p.Gly35Glu

Select item 7467080539.

rs746708053 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:129054806 (GRCh38)
7:128694860 (GRCh37)
Canonical SPDI:: NC_000007.14:129054805:T:C
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (ExAC)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
C=0.000032/8 (GnomAD_exomes)
HGVS:: NC_000007.14:g.129054806T>C, NC_000007.13:g.128694860T>C, NG_023428.1:g.5368A>G, NM_012470.4:c.-36A>G, NM_012470.3:c.-36A>G, NR_034053.3:n.306A>G, NR_034053.2:n.368A>G, NM_001191028.3:c.-36A>G, NM_001191028.2:c.-36A>G, NR_167915.1:n.306A>G, NR_167921.1:n.306A>G, NR_167918.1:n.306A>G, NR_167911.1:n.306A>G, NR_167927.1:n.306A>G, NR_167924.1:n.306A>G, NR_167919.1:n.306A>G, NR_167922.1:n.306A>G, NR_167912.1:n.306A>G, NM_001382216.1:c.-36A>G, NR_167920.1:n.306A>G, NM_001382217.1:c.-36A>G, NR_167914.1:n.306A>G, NR_167926.1:n.306A>G, NR_167925.1:n.306A>G, NR_167923.1:n.306A>G, NR_167913.1:n.306A>G, NM_001382218.1:c.-36A>G, NM_001382219.1:c.-36A>G, NM_001382220.1:c.-36A>G, NM_001382221.1:c.-36A>G, NM_001382222.1:c.-36A>G, NR_167917.1:n.306A>G, NR_167916.1:n.306A>G, NM_001382223.1:c.-36A>G

Select item 76191563910.

rs761915639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:129054753 (GRCh38)
7:128694807 (GRCh37)
Canonical SPDI:: NC_000007.14:129054752:C:G,NC_000007.14:129054752:C:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.129054753C>G, NC_000007.14:g.129054753C>T, NC_000007.13:g.128694807C>G, NC_000007.13:g.128694807C>T, NG_023428.1:g.5421G>C, NG_023428.1:g.5421G>A, NM_012470.4:c.18G>C, NM_012470.4:c.18G>A, NM_012470.3:c.18G>C, NM_012470.3:c.18G>A, NR_034053.3:n.359G>C, NR_034053.3:n.359G>A, NR_034053.2:n.421G>C, NR_034053.2:n.421G>A, NM_001191028.3:c.18G>C, NM_001191028.3:c.18G>A, NM_001191028.2:c.18G>C, NM_001191028.2:c.18G>A, NR_167915.1:n.359G>C, NR_167915.1:n.359G>A, NR_167921.1:n.359G>C, NR_167921.1:n.359G>A, NR_167918.1:n.359G>C, NR_167918.1:n.359G>A, NR_167911.1:n.359G>C, NR_167911.1:n.359G>A, NR_167927.1:n.359G>C, NR_167927.1:n.359G>A, NR_167924.1:n.359G>C, NR_167924.1:n.359G>A, NR_167919.1:n.359G>C, NR_167919.1:n.359G>A, NR_167922.1:n.359G>C, NR_167922.1:n.359G>A, NR_167912.1:n.359G>C, NR_167912.1:n.359G>A, NM_001382216.1:c.18G>C, NM_001382216.1:c.18G>A, NR_167920.1:n.359G>C, NR_167920.1:n.359G>A, NM_001382217.1:c.18G>C, NM_001382217.1:c.18G>A, NR_167914.1:n.359G>C, NR_167914.1:n.359G>A, NR_167926.1:n.359G>C, NR_167926.1:n.359G>A, NR_167925.1:n.359G>C, NR_167925.1:n.359G>A, NR_167923.1:n.359G>C, NR_167923.1:n.359G>A, NR_167913.1:n.359G>C, NR_167913.1:n.359G>A, NM_001382218.1:c.18G>C, NM_001382218.1:c.18G>A, NM_001382219.1:c.18G>C, NM_001382219.1:c.18G>A, NM_001382220.1:c.18G>C, NM_001382220.1:c.18G>A, NM_001382221.1:c.18G>C, NM_001382221.1:c.18G>A, NM_001382222.1:c.18G>C, NM_001382222.1:c.18G>A, NR_167917.1:n.359G>C, NR_167917.1:n.359G>A, NR_167916.1:n.359G>C, NR_167916.1:n.359G>A, NM_001382223.1:c.18G>C, NM_001382223.1:c.18G>A

Select item 77598363411.

rs775983634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:129054714 (GRCh38)
7:128694768 (GRCh37)
Canonical SPDI:: NC_000007.14:129054713:G:A
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000016/4 (GnomAD_exomes)
A=0.000017/2 (ExAC)
HGVS:: NC_000007.14:g.129054714G>A, NC_000007.13:g.128694768G>A, NG_023428.1:g.5460C>T, NM_012470.4:c.57C>T, NM_012470.3:c.57C>T, NR_034053.3:n.398C>T, NR_034053.2:n.460C>T, NM_001191028.3:c.57C>T, NM_001191028.2:c.57C>T, NR_167915.1:n.398C>T, NR_167921.1:n.398C>T, NR_167918.1:n.398C>T, NR_167911.1:n.398C>T, NR_167927.1:n.398C>T, NR_167924.1:n.398C>T, NR_167919.1:n.398C>T, NR_167922.1:n.398C>T, NR_167912.1:n.398C>T, NM_001382216.1:c.57C>T, NR_167920.1:n.398C>T, NM_001382217.1:c.57C>T, NR_167914.1:n.398C>T, NR_167926.1:n.398C>T, NR_167925.1:n.398C>T, NR_167923.1:n.398C>T, NR_167913.1:n.398C>T, NM_001382218.1:c.57C>T, NM_001382219.1:c.57C>T, NM_001382220.1:c.57C>T, NM_001382221.1:c.57C>T, NM_001382222.1:c.57C>T, NR_167917.1:n.398C>T, NR_167916.1:n.398C>T, NM_001382223.1:c.57C>T

Select item 77762732212.

rs777627322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:129054645 (GRCh38)
7:128694699 (GRCh37)
Canonical SPDI:: NC_000007.14:129054644:C:T
Gene:: TNPO3 (Varview), TPI1P2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000096/24 (GnomAD_exomes)
T=0.000125/15 (ExAC)
HGVS:: NC_000007.14:g.129054645C>T, NC_000007.13:g.128694699C>T, NG_023428.1:g.5529G>A