GPS2 - SNP - NCBI

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Select item 65030131.

rs6503013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7314165 (GRCh38)
17:7217484 (GRCh37)
Canonical SPDI:: NC_000017.11:7314164:G:A
Gene:: GPS2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.013955/896 (ALFA)
A=0.000519/2 (ALSPAC)
A=0.000809/3 (TWINSUK)
A=0.003195/2 (Chileans)
A=0.005618/3 (MGP)
A=0.006873/1728 (GnomAD_exomes)
A=0.008294/1007 (ExAC)
A=0.018519/4 (Qatari)
A=0.02818/3910 (GnomAD)
A=0.028732/144 (1000Genomes)
A=0.029178/7723 (TOPMED)
A=0.030294/394 (GoESP)
A=0.040816/52 (HapMap)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.7314165G>A, NC_000017.10:g.7217484G>A, NW_021160020.1:g.72530G>A

Select item 1435260872.

rs143526087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7314601 (GRCh38)
17:7217920 (GRCh37)
Canonical SPDI:: NC_000017.11:7314600:G:A
Gene:: GPS2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003042/151 (ALFA)
A=0.000223/1 (Estonian)
A=0.000778/3 (ALSPAC)
A=0.001079/4 (TWINSUK)
A=0.002676/668 (GnomAD_exomes)
A=0.002966/360 (ExAC)
A=0.009366/1312 (GnomAD)
A=0.009457/123 (GoESP)
A=0.009691/2565 (TOPMED)
A=0.010931/55 (1000Genomes)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000017.11:g.7314601G>A, NC_000017.10:g.7217920G>A, NW_021160020.1:g.72966G>A

Select item 588859573.

rs58885957 has merged into rs6503013 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7314165 (GRCh38)
17:7217484 (GRCh37)
Canonical SPDI:: NC_000017.11:7314164:G:A
Gene:: GPS2 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.013955/896 (ALFA)
A=0.000519/2 (ALSPAC)
A=0.000809/3 (TWINSUK)
A=0.003195/2 (Chileans)
A=0.005618/3 (MGP)
A=0.006873/1728 (GnomAD_exomes)
A=0.008294/1007 (ExAC)
A=0.018519/4 (Qatari)
A=0.02818/3910 (GnomAD)
A=0.028732/144 (1000Genomes)
A=0.029178/7723 (TOPMED)
A=0.030294/394 (GoESP)
A=0.040816/52 (HapMap)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.7314165G>A, NC_000017.10:g.7217484G>A, NW_021160020.1:g.72530G>A

Select item 86104.

rs8610 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 17:7315911 (GRCh38)
17:7219230 (GRCh37)
Canonical SPDI:: NC_000017.11:7315910:A:C,NC_000017.11:7315910:A:G,NC_000017.11:7315910:A:T
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.440075/54961 (ALFA)
T=0./0 (KOREAN)
A=0.054639/916 (TOMMO)
A=0.067686/124 (Korea1K)
A=0.093458/20 (Vietnamese)
A=0.174699/87 (SGDP_PRJ)
A=0.185185/10 (Siberian)
A=0.293331/1469 (1000Genomes)
A=0.31164/589 (HapMap)
A=0.375/15 (GENOME_DK)
A=0.385715/102095 (TOPMED)
A=0.399413/55933 (GnomAD)
A=0.41178/1587 (ALSPAC)
G=0.41573/222 (MGP)
A=0.423333/254 (NorthernSweden)
A=0.423409/1570 (TWINSUK)
A=0.435937/1953 (Estonian)
A=0.460922/460 (GoNL)
G=0.481481/104 (Qatari)
HGVS:: NC_000017.11:g.7315911A>C, NC_000017.11:g.7315911A>G, NC_000017.11:g.7315911A>T, NC_000017.10:g.7219230A>C, NC_000017.10:g.7219230A>G, NC_000017.10:g.7219230A>T, NW_021160020.1:g.74276A>C, NW_021160020.1:g.74276A>G, NW_021160020.1:g.74276A>T, NM_032442.3:c.*212T>G, NM_032442.3:c.*212T>C, NM_032442.3:c.*212T>A, NM_032442.2:c.*212T>G, NM_032442.2:c.*212T>C, NM_032442.2:c.*212T>A, NM_001005408.2:c.*212T>G, NM_001005408.2:c.*212T>C, NM_001005408.2:c.*212T>A, NM_001005408.1:c.*212T>G, NM_001005408.1:c.*212T>C, NM_001005408.1:c.*212T>A

Select item 8708925.

rs870892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7313409 (GRCh38)
17:7216728 (GRCh37)
Canonical SPDI:: NC_000017.11:7313408:A:G
Gene:: GPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.7313409A>G, NC_000017.10:g.7216728A>G, NW_021160020.1:g.71774A>G, NM_004489.5:c.695T>C, NM_004489.4:c.695T>C, NM_032938.1:c.695T>C, NP_004480.1:p.Val232Ala

Select item 10437866.

rs1043786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7315779 (GRCh38)
17:7219098 (GRCh37)
Canonical SPDI:: NC_000017.11:7315778:C:T
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (TWINSUK)
T=0.000007/1 (GnomAD)
T=0.000259/1 (ALSPAC)
HGVS:: NC_000017.11:g.7315779C>T, NC_000017.10:g.7219098C>T, NW_021160020.1:g.74144C>T, NM_032442.3:c.*344G>A, NM_032442.2:c.*344G>A, NM_001005408.2:c.*344G>A, NM_001005408.1:c.*344G>A

Select item 10437907.

rs1043790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7315698 (GRCh38)
17:7219017 (GRCh37)
Canonical SPDI:: NC_000017.11:7315697:C:G,NC_000017.11:7315697:C:T
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.7315698C>G, NC_000017.11:g.7315698C>T, NC_000017.10:g.7219017C>G, NC_000017.10:g.7219017C>T, NW_021160020.1:g.74063C>G, NW_021160020.1:g.74063C>T, NM_032442.3:c.*425G>C, NM_032442.3:c.*425G>A, NM_032442.2:c.*425G>C, NM_032442.2:c.*425G>A, NM_001005408.2:c.*425G>C, NM_001005408.2:c.*425G>A, NM_001005408.1:c.*425G>C, NM_001005408.1:c.*425G>A

Select item 10437918.

rs1043791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7315667 (GRCh38)
17:7218986 (GRCh37)
Canonical SPDI:: NC_000017.11:7315666:G:C
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_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_000017.11:g.7315667G>C, NC_000017.10:g.7218986G>C, NW_021160020.1:g.74032G>C, NM_032442.3:c.*456C>G, NM_032442.2:c.*456C>G, NM_001005408.2:c.*456C>G, NM_001005408.1:c.*456C>G

Select item 10437929.

rs1043792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 17:7315660 (GRCh38)
17:7218979 (GRCh37)
Canonical SPDI:: NC_000017.11:7315659:G:C,NC_000017.11:7315659:G:T
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
T=0.000686/2 (KOREAN)
HGVS:: NC_000017.11:g.7315660G>C, NC_000017.11:g.7315660G>T, NC_000017.10:g.7218979G>C, NC_000017.10:g.7218979G>T, NW_021160020.1:g.74025G>C, NW_021160020.1:g.74025G>T, NM_032442.3:c.*463C>G, NM_032442.3:c.*463C>A, NM_032442.2:c.*463C>G, NM_032442.2:c.*463C>A, NM_001005408.2:c.*463C>G, NM_001005408.2:c.*463C>A, NM_001005408.1:c.*463C>G, NM_001005408.1:c.*463C>A

Select item 105433510.

rs1054335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:7312161 (GRCh38)
17:7215480 (GRCh37)
Canonical SPDI:: NC_000017.11:7312160:C:T
Gene:: EIF5A (Varview), GPS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.7312161C>T, NC_000017.10:g.7215480C>T, NW_021160020.1:g.70526C>T, NM_001970.5:c.*351C>T, NM_001970.4:c.*351C>T, NM_001143762.2:c.*351C>T, NM_001143762.1:c.*351C>T, XM_047435524.1:c.*351C>T, NM_001143761.1:c.*351C>T, NM_001370421.1:c.*351C>T, NM_001143760.1:c.*351C>T, NM_001370420.1:c.*351C>T

Select item 105437811.

rs1054378 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:7312217 (GRCh38)
17:7215536 (GRCh37)
Canonical SPDI:: NC_000017.11:7312216:T:A,NC_000017.11:7312216:T:C,NC_000017.11:7312216:T:G
Gene:: EIF5A (Varview), GPS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.439413/4221 (ALFA)
G=0./0 (KOREAN)
T=0.247934/120 (SGDP_PRJ)
T=0.263742/4407 (TOMMO)
T=0.318777/584 (Korea1K)
C=0.355805/190 (MGP)
T=0.383945/1717 (Estonian)
T=0.404255/1558 (ALSPAC)
T=0.409275/2050 (1000Genomes)
T=0.424488/1574 (TWINSUK)
T=0.435872/435 (GoNL)
C=0.439815/95 (Qatari)
T=0.449032/61758 (GnomAD)
T=0.452586/119795 (TOPMED)
HGVS:: NC_000017.11:g.7312217T>A, NC_000017.11:g.7312217T>C, NC_000017.11:g.7312217T>G, NC_000017.10:g.7215536T>A, NC_000017.10:g.7215536T>C, NC_000017.10:g.7215536T>G, NW_021160020.1:g.70582T>A, NW_021160020.1:g.70582T>C, NW_021160020.1:g.70582T>G, NM_001970.5:c.*407T>A, NM_001970.5:c.*407T>C, NM_001970.5:c.*407T>G, NM_001970.4:c.*407T>A, NM_001970.4:c.*407T>C, NM_001970.4:c.*407T>G, NM_001143762.2:c.*407T>A, NM_001143762.2:c.*407T>C, NM_001143762.2:c.*407T>G, NM_001143762.1:c.*407T>A, NM_001143762.1:c.*407T>C, NM_001143762.1:c.*407T>G, XM_047435524.1:c.*407T>A, XM_047435524.1:c.*407T>C, XM_047435524.1:c.*407T>G, NM_001143761.1:c.*407T>A, NM_001143761.1:c.*407T>C, NM_001143761.1:c.*407T>G, NM_001370421.1:c.*407T>A, NM_001370421.1:c.*407T>C, NM_001370421.1:c.*407T>G, NM_001370420.1:c.*407T>A, NM_001370420.1:c.*407T>C, NM_001370420.1:c.*407T>G, NM_001143760.1:c.*407T>A, NM_001143760.1:c.*407T>C, NM_001143760.1:c.*407T>G

Select item 105441412.

rs1054414 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7312313 (GRCh38)
17:7215632 (GRCh37)
Canonical SPDI:: NC_000017.11:7312312:G:A
Gene:: EIF5A (Varview), GPS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.7312313G>A, NC_000017.10:g.7215632G>A, NW_021160020.1:g.70678G>A, NM_001970.5:c.*503G>A, NM_001970.4:c.*503G>A, NM_001143762.2:c.*503G>A, NM_001143762.1:c.*503G>A, XM_047435524.1:c.*503G>A, NM_001143761.1:c.*503G>A, NM_001370421.1:c.*503G>A, NM_001370420.1:c.*503G>A, NM_001143760.1:c.*503G>A

Select item 105441813.

rs1054418 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7312321 (GRCh38)
17:7215640 (GRCh37)
Canonical SPDI:: NC_000017.11:7312320:G:A
Gene:: EIF5A (Varview), GPS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
HGVS:: NC_000017.11:g.7312321G>A, NC_000017.10:g.7215640G>A, NW_021160020.1:g.70686G>A, NM_001970.5:c.*511G>A, NM_001970.4:c.*511G>A, NM_001143762.2:c.*511G>A, NM_001143762.1:c.*511G>A, XM_047435524.1:c.*511G>A, NM_001143761.1:c.*511G>A, NM_001370421.1:c.*511G>A, NM_001370420.1:c.*511G>A, NM_001143760.1:c.*511G>A

Select item 227098114.

rs2270981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:7313221 (GRCh38)
17:7216540 (GRCh37)
Canonical SPDI:: NC_000017.11:7313220:G:A,NC_000017.11:7313220:G:C
Gene:: GPS2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.051033/16932 (ALFA)
A=0.019866/89 (Estonian)
A=0.026667/16 (NorthernSweden)
A=0.031062/31 (GoNL)
A=0.037037/8 (Qatari)
A=0.042763/13 (FINRISK)
A=0.044888/173 (ALSPAC)
A=0.051456/7216 (GnomAD)
A=0.058792/218 (TWINSUK)
A=0.061204/16200 (TOPMED)
A=0.067416/36 (MGP)
A=0.068182/6 (PRJEB36033)
A=0.068383/8262 (ExAC)
A=0.075/3 (GENOME_DK)
A=0.092362/7268 (PAGE_STUDY)
A=0.094609/179 (HapMap)
A=0.099938/500 (1000Genomes)
A=0.128119/267 (HGDP_Stanford)
A=0.222199/3724 (TOMMO)
A=0.271288/497 (Korea1K)
A=0.289873/229 (PRJEB37584)
A=0.299659/878 (KOREAN)
A=0.30456/187 (Vietnamese)
G=0.439394/58 (SGDP_PRJ)
G=0.5/4 (Siberian)
HGVS:: NC_000017.11:g.7313221G>A, NC_000017.11:g.7313221G>C, NC_000017.10:g.7216540G>A, NC_000017.10:g.7216540G>C, NW_021160020.1:g.71586G>A, NW_021160020.1:g.71586G>C, NM_004489.5:c.795C>T, NM_004489.5:c.795C>G, NM_004489.4:c.795C>T, NM_004489.4:c.795C>G, NM_032938.1:c.795C>T, NM_032938.1:c.795C>G, NP_004480.1:p.Phe265Leu

PubMed

Select item 227981815.

rs2279818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:7315219 (GRCh38)
17:7218538 (GRCh37)
Canonical SPDI:: NC_000017.11:7315218:G:A
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.132094/2495 (ALFA)
A=0.069444/15 (Qatari)
A=0.128712/17977 (GnomAD)
A=0.133205/35258 (TOPMED)
A=0.136667/82 (NorthernSweden)
A=0.141586/525 (TWINSUK)
A=0.142449/549 (ALSPAC)
A=0.154757/693 (Estonian)
A=0.175/7 (GENOME_DK)
A=0.20253/1014 (1000Genomes)
A=0.319444/69 (Vietnamese)
A=0.362118/1019 (KOREAN)
A=0.383747/680 (Korea1K)
G=0.410714/92 (SGDP_PRJ)
A=0.419949/7033 (TOMMO)
G=0.458333/11 (Siberian)
HGVS:: NC_000017.11:g.7315219G>A, NC_000017.10:g.7218538G>A, NW_021160020.1:g.73584G>A

Select item 229206416.

rs2292064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:7314144 (GRCh38)
17:7217463 (GRCh37)
Canonical SPDI:: NC_000017.11:7314143:T:A,NC_000017.11:7314143:T:C,NC_000017.11:7314143:T:G
Gene:: GPS2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.489558/68026 (ALFA)
C=0.179487/14 (PRJEB36033)
T=0.259259/14 (Siberian)
T=0.276087/127 (SGDP_PRJ)
T=0.277762/4655 (TOMMO)
T=0.33952/622 (Korea1K)
T=0.356061/282 (PRJEB37584)
T=0.37372/1095 (KOREAN)
T=0.375/114 (FINRISK)
T=0.386992/238 (Vietnamese)
C=0.421296/91 (Qatari)
T=0.427701/2142 (1000Genomes)
T=0.440019/917 (HGDP_Stanford)
C=0.449438/240 (MGP)
T=0.455/273 (NorthernSweden)
T=0.456473/2045 (Estonian)
T=0.458744/1768 (ALSPAC)
T=0.459929/36190 (PAGE_STUDY)
T=0.473031/1754 (TWINSUK)
T=0.477974/126515 (TOPMED)
T=0.480673/67226 (GnomAD)
T=0.49062/6381 (GoESP)
T=0.49499/494 (GoNL)
HGVS:: NC_000017.11:g.7314144T>A, NC_000017.11:g.7314144T>C, NC_000017.11:g.7314144T>G, NC_000017.10:g.7217463T>A, NC_000017.10:g.7217463T>C, NC_000017.10:g.7217463T>G, NW_021160020.1:g.72509T>A, NW_021160020.1:g.72509T>C, NW_021160020.1:g.72509T>G, NM_004489.5:c.333A>T, NM_004489.5:c.333A>G, NM_004489.5:c.333A>C, NM_004489.4:c.333A>T, NM_004489.4:c.333A>G, NM_004489.4:c.333A>C, NM_032938.1:c.333G>A, NM_032938.1:c.333G>T, NM_032938.1:c.333G>C

PubMed

Select item 229206517.

rs2292065 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7312824 (GRCh38)
17:7216143 (GRCh37)
Canonical SPDI:: NC_000017.11:7312823:T:C
Gene:: EIF5A (Varview), GPS2 (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000181/29 (ALFA)
C=0.000264/37 (GnomAD)
C=0.000457/121 (TOPMED)
C=0.001225/308 (GnomAD_exomes)
C=0.001475/179 (ExAC)
C=0.002811/14 (1000Genomes)
C=0.006253/492 (PAGE_STUDY)
C=0.009772/6 (Vietnamese)
C=0.022659/15 (HapMap)
C=0.058864/172 (KOREAN)
C=0.058952/108 (Korea1K)
C=0.068795/1153 (TOMMO)
T=0.5/1 (Siberian)
HGVS:: NC_000017.11:g.7312824T>C, NC_000017.10:g.7216143T>C, NW_021160020.1:g.71189T>C, NM_004489.5:c.916A>G, NM_004489.4:c.916A>G, NM_032938.1:c.916A>G, NP_004480.1:p.Thr306Ala

Select item 308788718.

rs3087887 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:7312359 (GRCh38)
17:7215678 (GRCh37)
Canonical SPDI:: NC_000017.11:7312358:G:A,NC_000017.11:7312358:G:C
Gene:: EIF5A (Varview), GPS2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7312359G>A, NC_000017.11:g.7312359G>C, NC_000017.10:g.7215678G>A, NC_000017.10:g.7215678G>C, NW_021160020.1:g.70724G>A, NW_021160020.1:g.70724G>C, NM_001970.5:c.*549G>A, NM_001970.5:c.*549G>C, NM_001970.4:c.*549G>A, NM_001970.4:c.*549G>C, NM_001143762.2:c.*549G>A, NM_001143762.2:c.*549G>C, NM_001143762.1:c.*549G>A, NM_001143762.1:c.*549G>C, XM_047435524.1:c.*549G>A, XM_047435524.1:c.*549G>C, NM_001143761.1:c.*549G>A, NM_001143761.1:c.*549G>C, NM_001370421.1:c.*549G>A, NM_001370421.1:c.*549G>C, NM_001370420.1:c.*549G>A, NM_001370420.1:c.*549G>C, NM_001143760.1:c.*549G>A, NM_001143760.1:c.*549G>C

Select item 318046119.

rs3180461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7315632 (GRCh38)
17:7218951 (GRCh37)
Canonical SPDI:: NC_000017.11:7315631:C:G,NC_000017.11:7315631:C:T
Gene:: GPS2 (Varview), NEURL4 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000017.11:g.7315632C>G, NC_000017.11:g.7315632C>T, NC_000017.10:g.7218951C>G, NC_000017.10:g.7218951C>T, NW_021160020.1:g.73997C>G, NW_021160020.1:g.73997C>T, NM_032442.3:c.*491G>C, NM_032442.3:c.*491G>A, NM_032442.2:c.*491G>C, NM_032442.2:c.*491G>A, NM_001005408.2:c.*491G>C, NM_001005408.2:c.*491G>A, NM_001005408.1:c.*491G>C, NM_001005408.1:c.*491G>A, NM_032938.1:c.-369G>C, NM_032938.1:c.-369G>A

Select item 321513020.

rs3215130 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:7314179 (GRCh38)
17:7217498 (GRCh37)
Canonical SPDI:: NC_000017.11:7314178:GG:G,NC_000017.11:7314178:GG:GGG
Gene:: GPS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.06555/1808 (ALFA)
-=0.044088/44 (GoNL)
-=0.045926/177 (ALSPAC)
-=0.047195/175 (TWINSUK)
-=0.053795/241 (Estonian)
-=0.061667/37 (NorthernSweden)
-=0.072935/913 (GoESP)
-=0.073154/8880 (ExAC)
-=0.076743/19296 (GnomAD_exomes)
-=0.085614/12000 (GnomAD)
-=0.089195/23609 (TOPMED)
-=0.121487/608 (1000Genomes)
-=0.144499/88 (Vietnamese)
-=0.168873/2830 (TOMMO)
HGVS:: NC_000017.11:g.7314180del, NC_000017.11:g.7314180dup, NC_000017.10:g.7217499del, NC_000017.10:g.7217499dup, NW_021160020.1:g.72545del, NW_021160020.1:g.72545dup

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