ETV5 - SNP - NCBI

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Select item 15167251.

rs1516725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:186106215 (GRCh38)
3:185824004 (GRCh37)
Canonical SPDI:: NC_000003.12:186106214:T:A,NC_000003.12:186106214:T:C,NC_000003.12:186106214:T:G
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.130204/6086 (ALFA)
G=0./0 (KOREAN)
T=0.014297/240 (TOMMO)
T=0.030568/56 (Korea1K)
T=0.069444/15 (Vietnamese)
T=0.071429/4 (Siberian)
T=0.095238/20 (HapMap)
T=0.1/4 (GENOME_DK)
T=0.103795/465 (Estonian)
T=0.105556/57 (SGDP_PRJ)
T=0.119238/119 (GoNL)
T=0.121018/606 (1000Genomes)
T=0.129422/10185 (PAGE_STUDY)
T=0.134406/518 (ALSPAC)
T=0.138022/19328 (GnomAD)
T=0.13826/36596 (TOPMED)
T=0.14/84 (NorthernSweden)
T=0.142665/529 (TWINSUK)
T=0.203704/44 (Qatari)
HGVS:: NC_000003.12:g.186106215T>A, NC_000003.12:g.186106215T>C, NC_000003.12:g.186106215T>G, NC_000003.11:g.185824004T>A, NC_000003.11:g.185824004T>C, NC_000003.11:g.185824004T>G

PubMed LitVar

Select item 46867272.

rs4686727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:186064176 (GRCh38)
3:185781965 (GRCh37)
Canonical SPDI:: NC_000003.12:186064175:T:A,NC_000003.12:186064175:T:C,NC_000003.12:186064175:T:G
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003705/71 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (TWINSUK)
T=0./0 (Vietnamese)
T=0.000546/1 (Korea1K)
T=0.00463/1 (Qatari)
T=0.005396/3 (SGDP_PRJ)
T=0.00609/30 (1000Genomes)
T=0.006124/859 (GnomAD)
T=0.006853/1814 (TOPMED)
T=0.015945/14 (HapMap)
HGVS:: NC_000003.12:g.186064176T>A, NC_000003.12:g.186064176T>C, NC_000003.12:g.186064176T>G, NC_000003.11:g.185781965T>A, NC_000003.11:g.185781965T>C, NC_000003.11:g.185781965T>G

Select item 46867313.

rs4686731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:186106184 (GRCh38)
3:185823973 (GRCh37)
Canonical SPDI:: NC_000003.12:186106183:T:C
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.018551/356 (ALFA)
C=0.011022/11 (GoNL)
C=0.011676/45 (ALSPAC)
C=0.020341/5384 (TOPMED)
C=0.021036/78 (TWINSUK)
C=0.022017/110 (1000Genomes)
C=0.02388/3346 (GnomAD)
C=0.025/1 (GENOME_DK)
C=0.031114/57 (Korea1K)
C=0.035592/104 (KOREAN)
C=0.044643/200 (Estonian)
C=0.053333/32 (NorthernSweden)
C=0.057152/958 (TOMMO)
T=0.431818/19 (SGDP_PRJ)
T=0.5/5 (Siberian)
HGVS:: NC_000003.12:g.186106184T>C, NC_000003.11:g.185823973T>C

Select item 126316584.

rs12631658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:186106153 (GRCh38)
3:185823942 (GRCh37)
Canonical SPDI:: NC_000003.12:186106152:C:G,NC_000003.12:186106152:C:T
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.046859/1983 (ALFA)
T=0.014028/14 (GoNL)
T=0.023463/87 (TWINSUK)
T=0.025/1 (GENOME_DK)
T=0.028282/109 (ALSPAC)
T=0.046667/28 (NorthernSweden)
T=0.049704/10193 (GENOGRAPHIC)
T=0.05067/227 (Estonian)
T=0.069444/15 (Qatari)
T=0.072391/10134 (GnomAD)
T=0.089977/23816 (TOPMED)
T=0.18399/14480 (PAGE_STUDY)
T=0.185197/927 (1000Genomes)
T=0.25/52 (HapMap)
C=0.366667/77 (SGDP_PRJ)
C=0.457547/97 (Vietnamese)
C=0.486348/1425 (KOREAN)
T=0.495895/8311 (TOMMO)
C=0.5/5 (Siberian)
HGVS:: NC_000003.12:g.186106153C>G, NC_000003.12:g.186106153C>T, NC_000003.11:g.185823942C>G, NC_000003.11:g.185823942C>T

Select item 598521265.

rs59852126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 3:186057024 (GRCh38)
3:185774813 (GRCh37)
Canonical SPDI:: NC_000003.12:186057023:C:A,NC_000003.12:186057023:C:G
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.036995/1477 (ALFA)
A=0.016032/16 (GoNL)
A=0.023732/88 (TWINSUK)
A=0.025/1 (GENOME_DK)
A=0.027064/352 (GoESP)
A=0.027244/105 (ALSPAC)
A=0.035581/19 (MGP)
A=0.046667/28 (NorthernSweden)
A=0.054464/244 (Estonian)
A=0.054555/7648 (GnomAD)
A=0.064815/14 (Qatari)
A=0.065888/17440 (TOPMED)
A=0.09179/10878 (ExAC)
A=0.100381/23770 (GnomAD_exomes)
A=0.146627/734 (1000Genomes)
C=0.384615/70 (SGDP_PRJ)
A=0.462617/99 (Vietnamese)
A=0.473282/7932 (TOMMO)
A=0.480887/1409 (KOREAN)
C=0.5/5 (Siberian)
HGVS:: NC_000003.12:g.186057024C>A, NC_000003.12:g.186057024C>G, NC_000003.11:g.185774813C>A, NC_000003.11:g.185774813C>G

Select item 746079926.

rs74607992 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:186052307 (GRCh38)
3:185770096 (GRCh37)
Canonical SPDI:: NC_000003.12:186052306:G:T
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.042831/1321 (ALFA)
T=0.013109/7 (MGP)
T=0.018519/4 (Qatari)
T=0.019363/97 (1000Genomes)
T=0.030133/7976 (TOPMED)
T=0.035466/4973 (GnomAD)
T=0.042071/156 (TWINSUK)
T=0.046429/208 (Estonian)
T=0.051635/199 (ALSPAC)
T=0.055/33 (NorthernSweden)
T=0.059118/59 (GoNL)
G=0.5/1 (Siberian)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186052307G>T, NC_000003.11:g.185770096G>T

Select item 778058267.

rs77805826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186080236 (GRCh38)
3:185798025 (GRCh37)
Canonical SPDI:: NC_000003.12:186080235:C:T
Gene:: ETV5 (Varview), LOC124909470 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.125304/2367 (ALFA)
T=0.01412/237 (TOMMO)
T=0.022587/66 (KOREAN)
T=0.029476/54 (Korea1K)
T=0.060185/13 (Vietnamese)
T=0.086142/46 (MGP)
T=0.1/4 (GENOME_DK)
T=0.103795/465 (Estonian)
T=0.108994/546 (1000Genomes)
T=0.119238/119 (GoNL)
T=0.124358/17431 (GnomAD)
T=0.124602/32981 (TOPMED)
T=0.132849/512 (ALSPAC)
T=0.14/84 (NorthernSweden)
T=0.142125/527 (TWINSUK)
T=0.189815/41 (Qatari)
C=0.451613/56 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000003.12:g.186080236C>T, NC_000003.11:g.185798025C>T

Select item 785062018.

rs78506201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:186080022 (GRCh38)
3:185797811 (GRCh37)
Canonical SPDI:: NC_000003.12:186080021:G:A,NC_000003.12:186080021:G:C
Gene:: ETV5 (Varview), LOC124909470 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.003856/172 (ALFA)
C=0.00281/536 (GnomAD_exomes)
C=0.004051/470 (ExAC)
C=0.009259/2 (Qatari)
C=0.012775/165 (GoESP)
C=0.013155/1842 (GnomAD)
C=0.014349/3798 (TOPMED)
C=0.01624/81 (1000Genomes)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186080022G>A, NC_000003.12:g.186080022G>C, NC_000003.11:g.185797811G>A, NC_000003.11:g.185797811G>C, NM_004454.3:c.445C>T, NM_004454.3:c.445C>G, NM_004454.2:c.445C>T, NM_004454.2:c.445C>G, NP_004445.1:p.Leu149Val

Select item 790601739.

rs79060173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:186048922 (GRCh38)
3:185766711 (GRCh37)
Canonical SPDI:: NC_000003.12:186048921:G:A,NC_000003.12:186048921:G:C
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.133622/3735 (ALFA)
A=0.075/6 (PRJEB36033)
A=0.126253/126 (GoNL)
A=0.134574/499 (TWINSUK)
A=0.134925/520 (ALSPAC)
A=0.146501/20521 (GnomAD)
A=0.149107/668 (Estonian)
A=0.160286/42426 (TOPMED)
A=0.164794/88 (MGP)
A=0.17/102 (NorthernSweden)
A=0.225/9 (GENOME_DK)
A=0.269363/1349 (1000Genomes)
A=0.296296/64 (Qatari)
G=0.316038/67 (Vietnamese)
G=0.35/7 (Siberian)
G=0.364505/1068 (KOREAN)
G=0.367754/6164 (TOMMO)
G=0.368243/109 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186048922G>A, NC_000003.12:g.186048922G>C, NC_000003.11:g.185766711G>A, NC_000003.11:g.185766711G>C

Select item 11358670410.

rs113586704 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:186080939 (GRCh38)
3:185798728 (GRCh37)
Canonical SPDI:: NC_000003.12:186080938:A:G
Gene:: ETV5 (Varview), LOC124909470 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.033314/1028 (ALFA)
G=0.01/6 (NorthernSweden)
G=0.014286/3 (Vietnamese)
G=0.017857/80 (Estonian)
G=0.019165/56 (KOREAN)
G=0.024345/13 (MGP)
G=0.024489/410 (TOMMO)
G=0.026747/49 (Korea1K)
G=0.033711/125 (TWINSUK)
G=0.034068/34 (GoNL)
G=0.037104/143 (ALSPAC)
G=0.042494/5959 (GnomAD)
G=0.045555/12058 (TOPMED)
G=0.047314/237 (1000Genomes)
G=0.060185/13 (Qatari)
A=0.5/1 (Siberian)
A=0.5/11 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186080939A>G, NC_000003.11:g.185798728A>G

Select item 11570363211.

rs115703632 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:186048773 (GRCh38)
3:185766562 (GRCh37)
Canonical SPDI:: NC_000003.12:186048772:G:A
Gene:: ETV5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003475/166 (ALFA)
A=0.000035/1 (TOMMO)
A=0.002003/502 (GnomAD_exomes)
A=0.002533/307 (ExAC)
A=0.008786/1232 (GnomAD)
A=0.008875/2349 (TOPMED)
A=0.009057/45 (1000Genomes)
A=0.009259/2 (Qatari)
A=0.009842/128 (GoESP)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186048773G>A, NC_000003.11:g.185766562G>A, NM_004454.3:c.1399C>T, NM_004454.2:c.1399C>T

Select item 11652368812.

rs116523688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:186048726 (GRCh38)
3:185766515 (GRCh37)
Canonical SPDI:: NC_000003.12:186048725:C:A,NC_000003.12:186048725:C:T
Gene:: ETV5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001014/50 (ALFA)
T=0./0 (TWINSUK)
A=0.000035/1 (TOMMO)
T=0.000259/1 (ALSPAC)
T=0.000944/237 (GnomAD_exomes)
T=0.001171/142 (ExAC)
T=0.00418/586 (GnomAD)
T=0.004379/1159 (TOPMED)
T=0.00463/1 (Qatari)
T=0.004767/62 (GoESP)
T=0.005309/27 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186048726C>A, NC_000003.12:g.186048726C>T, NC_000003.11:g.185766515C>A, NC_000003.11:g.185766515C>T, NM_004454.3:c.1446G>T, NM_004454.3:c.1446G>A, NM_004454.2:c.1446G>T, NM_004454.2:c.1446G>A

Select item 11669981913.

rs116699819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186048777 (GRCh38)
3:185766566 (GRCh37)
Canonical SPDI:: NC_000003.12:186048776:C:T
Gene:: ETV5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002373/107 (ALFA)
T=0./0 (KOREAN)
T=0.000035/1 (TOMMO)
T=0.002024/507 (GnomAD_exomes)
T=0.00255/309 (ExAC)
T=0.008775/1230 (GnomAD)
T=0.008875/2349 (TOPMED)
T=0.009057/45 (1000Genomes)
T=0.009259/2 (Qatari)
T=0.009842/128 (GoESP)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000003.12:g.186048777C>T, NC_000003.11:g.185766566C>T, NM_004454.3:c.1395G>A, NM_004454.2:c.1395G>A

Select item 5755035914.

rs57550359 has merged into rs1516725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:186106215 (GRCh38)
3:185824004 (GRCh37)
Canonical SPDI:: NC_000003.12:186106214:T:A,NC_000003.12:186106214:T:C,NC_000003.12:186106214:T:G
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.130204/6086 (ALFA)
G=0./0 (KOREAN)
T=0.014297/240 (TOMMO)
T=0.030568/56 (Korea1K)
T=0.069444/15 (Vietnamese)
T=0.071429/4 (Siberian)
T=0.095238/20 (HapMap)
T=0.1/4 (GENOME_DK)
T=0.103795/465 (Estonian)
T=0.105556/57 (SGDP_PRJ)
T=0.119238/119 (GoNL)
T=0.121018/606 (1000Genomes)
T=0.129422/10185 (PAGE_STUDY)
T=0.134406/518 (ALSPAC)
T=0.138022/19328 (GnomAD)
T=0.13826/36596 (TOPMED)
T=0.14/84 (NorthernSweden)
T=0.142665/529 (TWINSUK)
T=0.203704/44 (Qatari)
HGVS:: NC_000003.12:g.186106215T>A, NC_000003.12:g.186106215T>C, NC_000003.12:g.186106215T>G, NC_000003.11:g.185824004T>A, NC_000003.11:g.185824004T>C, NC_000003.11:g.185824004T>G

Select item 5771202915.

rs57712029 has merged into rs4686727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:186064176 (GRCh38)
3:185781965 (GRCh37)
Canonical SPDI:: NC_000003.12:186064175:T:A,NC_000003.12:186064175:T:C,NC_000003.12:186064175:T:G
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003705/71 (ALFA)
T=0./0 (ALSPAC)
T=0./0 (GENOME_DK)
A=0./0 (KOREAN)
T=0./0 (NorthernSweden)
T=0./0 (Siberian)
T=0./0 (TOMMO)
T=0./0 (TWINSUK)
T=0./0 (Vietnamese)
T=0.000546/1 (Korea1K)
T=0.00463/1 (Qatari)
T=0.005396/3 (SGDP_PRJ)
T=0.00609/30 (1000Genomes)
T=0.006124/859 (GnomAD)
T=0.006853/1814 (TOPMED)
T=0.015945/14 (HapMap)
HGVS:: NC_000003.12:g.186064176T>A, NC_000003.12:g.186064176T>C, NC_000003.12:g.186064176T>G, NC_000003.11:g.185781965T>A, NC_000003.11:g.185781965T>C, NC_000003.11:g.185781965T>G

Select item 5790342816.

rs57903428 has merged into rs12631658 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:186106153 (GRCh38)
3:185823942 (GRCh37)
Canonical SPDI:: NC_000003.12:186106152:C:G,NC_000003.12:186106152:C:T
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.046859/1983 (ALFA)
T=0.014028/14 (GoNL)
T=0.023463/87 (TWINSUK)
T=0.025/1 (GENOME_DK)
T=0.028282/109 (ALSPAC)
T=0.046667/28 (NorthernSweden)
T=0.049704/10193 (GENOGRAPHIC)
T=0.05067/227 (Estonian)
T=0.069444/15 (Qatari)
T=0.072391/10134 (GnomAD)
T=0.089977/23816 (TOPMED)
T=0.18399/14480 (PAGE_STUDY)
T=0.185197/927 (1000Genomes)
T=0.25/52 (HapMap)
C=0.366667/77 (SGDP_PRJ)
C=0.457547/97 (Vietnamese)
C=0.486348/1425 (KOREAN)
T=0.495895/8311 (TOMMO)
C=0.5/5 (Siberian)
HGVS:: NC_000003.12:g.186106153C>G, NC_000003.12:g.186106153C>T, NC_000003.11:g.185823942C>G, NC_000003.11:g.185823942C>T

Select item 375817.

rs3758 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:186097245 (GRCh38)
3:185815034 (GRCh37)
Canonical SPDI:: NC_000003.12:186097244:A:G
Gene:: ETV5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.457/95 (HapMap)
HGVS:: NC_000003.12:g.186097245A>G, NC_000003.11:g.185815034A>G

Select item 831018.

rs8310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:186047944 (GRCh38)
3:185765733 (GRCh37)
Canonical SPDI:: NC_000003.12:186047943:T:A
Gene:: ETV5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.186047944T>A, NC_000003.11:g.185765733T>A, NM_004454.3:c.*695A>T, NM_004454.2:c.*695A>T

Select item 86939919.

rs869399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:186108975 (GRCh38)
3:185826764 (GRCh37)
Canonical SPDI:: NC_000003.12:186108974:C:A,NC_000003.12:186108974:C:G,NC_000003.12:186108974:C:T
Gene:: ETV5 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.371825/3133 (ALFA)
C=0.175/7 (GENOME_DK)
C=0.238333/143 (NorthernSweden)
C=0.239383/1071 (Estonian)
C=0.244421/942 (ALSPAC)
C=0.251888/934 (TWINSUK)
C=0.26/13 (Siberian)
C=0.27512/115 (SGDP_PRJ)
C=0.347222/75 (Qatari)
C=0.362945/96068 (TOPMED)
C=0.440037/2204 (1000Genomes)
T=0.452542/801 (Korea1K)
T=0.457615/1328 (KOREAN)
T=0.467037/7821 (TOMMO)
HGVS:: NC_000003.12:g.186108975C>A, NC_000003.12:g.186108975C>G, NC_000003.12:g.186108975C>T, NC_000003.11:g.185826764C>A, NC_000003.11:g.185826764C>G, NC_000003.11:g.185826764C>T, NM_004454.3:c.-110G>T, NM_004454.3:c.-110G>C, NM_004454.3:c.-110G>A, NM_004454.2:c.-110G>T, NM_004454.2:c.-110G>C, NM_004454.2:c.-110G>A

Select item 86940020.

rs869400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 3:186108951 (GRCh38)
3:185826740 (GRCh37)
Canonical SPDI:: NC_000003.12:186108950:T:A,NC_000003.12:186108950:T:C,NC_000003.12:186108950:T:G
Gene:: ETV5 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
T=0.015549/260 (TOMMO)
T=0.029944/53 (Korea1K)
T=0.131579/70 (SGDP_PRJ)
T=0.15/6 (GENOME_DK)
T=0.162555/814 (1000Genomes)
T=0.166667/9 (Siberian)
T=0.172845/774 (Estonian)
T=0.178775/689 (ALSPAC)
T=0.181667/109 (NorthernSweden)
T=0.184287/48779 (TOPMED)
T=0.187865/26285 (GnomAD)
T=0.195523/725 (TWINSUK)
T=0.231481/50 (Qatari)
HGVS:: NC_000003.12:g.186108951T>A, NC_000003.12:g.186108951T>C, NC_000003.12:g.186108951T>G, NC_000003.11:g.185826740T>A, NC_000003.11:g.185826740T>C, NC_000003.11:g.185826740T>G, NM_004454.3:c.-86A>T, NM_004454.3:c.-86A>G, NM_004454.3:c.-86A>C, NM_004454.2:c.-86A>T, NM_004454.2:c.-86A>G, NM_004454.2:c.-86A>C

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