THEG5 - SNP

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Select item 7298521.

rs729852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:31590992 (GRCh38)
19:32081898 (GRCh37)
Canonical SPDI:: NC_000019.10:31590991:C:T
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000741/14 (ALFA)
T=0./0 (HapMap)
T=0.000446/2 (Estonian)
T=0.000638/169 (TOPMED)
T=0.00072/101 (GnomAD)
T=0.001038/4 (ALSPAC)
T=0.001348/5 (TWINSUK)
T=0.01/6 (NorthernSweden)
HGVS:: NC_000019.10:g.31590992C>T, NC_000019.9:g.32081898C>T

Select item 22889452.

rs2288945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:31593592 (GRCh38)
19:32084498 (GRCh37)
Canonical SPDI:: NC_000019.10:31593591:T:C,NC_000019.10:31593591:T:G
Gene:: THEG5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.003074/58 (ALFA)
G=0.002777/389 (GnomAD)
G=0.004685/23 (1000Genomes)
G=0.006667/4 (NorthernSweden)
G=0.033843/62 (Korea1K)
G=0.03525/103 (KOREAN)
G=0.05609/940 (TOMMO)
T=0.5/3 (Siberian)
T=0.5/9 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31593592T>C, NC_000019.10:g.31593592T>G, NC_000019.9:g.32084498T>C, NC_000019.9:g.32084498T>G, NM_001278577.3:c.*553T>C, NM_001278577.3:c.*553T>G, NM_001278576.3:c.*553T>C, NM_001278576.3:c.*553T>G, NM_001278575.3:c.*553T>C, NM_001278575.3:c.*553T>G, NM_001278578.3:c.*553T>C, NM_001278578.3:c.*553T>G, NM_001205273.3:c.*553T>C, NM_001205273.3:c.*553T>G, NM_001278577.2:c.*553T>C, NM_001278577.2:c.*553T>G, NM_001278576.2:c.*553T>C, NM_001278576.2:c.*553T>G, NM_001278575.2:c.*553T>C, NM_001278575.2:c.*553T>G, NM_001278578.2:c.*553T>C, NM_001278578.2:c.*553T>G, NR_172935.1:n.1560T>C, NR_172935.1:n.1560T>G, NR_172937.1:n.1549T>C, NR_172937.1:n.1549T>G, NR_172934.1:n.1425T>C, NR_172934.1:n.1425T>G, NR_172936.1:n.1418T>C, NR_172936.1:n.1418T>G

Select item 72456973.

rs7245697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:31592790 (GRCh38)
19:32083696 (GRCh37)
Canonical SPDI:: NC_000019.10:31592789:T:A,NC_000019.10:31592789:T:C
Gene:: THEG5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.029988/845 (ALFA)
T=0.000955/16 (TOMMO)
T=0.001638/3 (Korea1K)
T=0.003754/11 (KOREAN)
T=0.009259/2 (Qatari)
T=0.016245/9 (SGDP_PRJ)
T=0.017645/88 (1000Genomes)
T=0.020787/224 (ExAC)
T=0.028218/3957 (GnomAD)
T=0.030371/8039 (TOPMED)
T=0.032064/32 (GoNL)
T=0.035045/157 (Estonian)
T=0.038665/4951 (GnomAD_exomes)
T=0.041667/25 (NorthernSweden)
T=0.042553/164 (ALSPAC)
T=0.047465/176 (TWINSUK)
T=0.071429/4 (Siberian)
HGVS:: NC_000019.10:g.31592790T>A, NC_000019.10:g.31592790T>C, NC_000019.9:g.32083696T>A, NC_000019.9:g.32083696T>C, NM_001278577.3:c.174T>A, NM_001278577.3:c.174T>C, NM_001278576.3:c.174T>A, NM_001278576.3:c.174T>C, NM_001278575.3:c.174T>A, NM_001278575.3:c.174T>C, NM_001278578.3:c.174T>A, NM_001278578.3:c.174T>C, NM_001205273.3:c.198T>A, NM_001205273.3:c.198T>C, NM_001278577.2:c.174T>A, NM_001278577.2:c.174T>C, NM_001278576.2:c.174T>A, NM_001278576.2:c.174T>C, NM_001278575.2:c.174T>A, NM_001278575.2:c.174T>C, NM_001278578.2:c.174T>A, NM_001278578.2:c.174T>C, NM_001205273.2:c.198T>A, NM_001205273.2:c.198T>C, NR_172935.1:n.758T>A, NR_172935.1:n.758T>C, NR_172937.1:n.747T>A, NR_172937.1:n.747T>C, NR_172934.1:n.623T>A, NR_172934.1:n.623T>C, NR_172936.1:n.616T>A, NR_172936.1:n.616T>C, NM_001278577.1:c.174T>A, NM_001278577.1:c.174T>C, NR_102398.1:n.732T>A, NR_102398.1:n.732T>C, NM_001278576.1:c.174T>A, NM_001278576.1:c.174T>C, NR_102397.1:n.608T>A, NR_102397.1:n.608T>C, NM_001278575.1:c.174T>A, NM_001278575.1:c.174T>C, NM_001278578.1:c.174T>A, NM_001278578.1:c.174T>C

Select item 81008224.

rs8100822 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:31593608 (GRCh38)
19:32084514 (GRCh37)
Canonical SPDI:: NC_000019.10:31593607:A:G
Gene:: THEG5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.022292/421 (ALFA)
G=0.010723/180 (TOMMO)
G=0.013889/3 (Qatari)
G=0.015147/76 (1000Genomes)
G=0.018724/4956 (TOPMED)
G=0.019652/88 (Estonian)
G=0.020855/2919 (GnomAD)
G=0.021903/64 (KOREAN)
G=0.025/1 (GENOME_DK)
G=0.030475/113 (TWINSUK)
G=0.031667/19 (NorthernSweden)
G=0.03451/133 (ALSPAC)
G=0.038076/38 (GoNL)
A=0.5/16 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31593608A>G, NC_000019.9:g.32084514A>G, NM_001278577.3:c.*569A>G, NM_001278576.3:c.*569A>G, NM_001278575.3:c.*569A>G, NM_001278578.3:c.*569A>G, NM_001205273.3:c.*569A>G, NM_001278577.2:c.*569A>G, NM_001278576.2:c.*569A>G, NM_001278575.2:c.*569A>G, NM_001278578.2:c.*569A>G, NR_172935.1:n.1576A>G, NR_172937.1:n.1565A>G, NR_172934.1:n.1441A>G, NR_172936.1:n.1434A>G

Select item 81008235.

rs8100823 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:31593613 (GRCh38)
19:32084519 (GRCh37)
Canonical SPDI:: NC_000019.10:31593612:A:T
Gene:: THEG5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.024884/470 (ALFA)
T=0.00303/1 (HapMap)
T=0.010723/180 (TOMMO)
T=0.013889/3 (Qatari)
T=0.018738/94 (1000Genomes)
T=0.019643/88 (Estonian)
T=0.021903/64 (KOREAN)
T=0.023223/6147 (TOPMED)
T=0.025/1 (GENOME_DK)
T=0.02517/3526 (GnomAD)
T=0.030475/113 (TWINSUK)
T=0.031773/19 (NorthernSweden)
T=0.03451/133 (ALSPAC)
T=0.038076/38 (GoNL)
A=0.5/17 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31593613A>T, NC_000019.9:g.32084519A>T, NM_001278577.3:c.*574A>T, NM_001278576.3:c.*574A>T, NM_001278575.3:c.*574A>T, NM_001278578.3:c.*574A>T, NM_001205273.3:c.*574A>T, NM_001278577.2:c.*574A>T, NM_001278576.2:c.*574A>T, NM_001278575.2:c.*574A>T, NM_001278578.2:c.*574A>T, NR_172935.1:n.1581A>T, NR_172937.1:n.1570A>T, NR_172934.1:n.1446A>T, NR_172936.1:n.1439A>T

Select item 81009506.

rs8100950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:31593765 (GRCh38)
19:32084671 (GRCh37)
Canonical SPDI:: NC_000019.10:31593764:A:G
Gene:: THEG5 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.022499/425 (ALFA)
G=0.010723/180 (TOMMO)
G=0.013333/4 (HapMap)
G=0.013889/3 (Qatari)
G=0.015147/76 (1000Genomes)
G=0.01872/4955 (TOPMED)
G=0.020313/91 (Estonian)
G=0.020873/2927 (GnomAD)
G=0.021575/63 (KOREAN)
G=0.025/1 (GENOME_DK)
G=0.031553/117 (TWINSUK)
G=0.035/21 (NorthernSweden)
G=0.037104/143 (ALSPAC)
G=0.038076/38 (GoNL)
G=0.056604/12 (Vietnamese)
A=0.5/16 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31593765A>G, NC_000019.9:g.32084671A>G, NM_001278577.3:c.*726A>G, NM_001278576.3:c.*726A>G, NM_001278575.3:c.*726A>G, NM_001278578.3:c.*726A>G, NM_001205273.3:c.*726A>G, NM_001278577.2:c.*726A>G, NM_001278576.2:c.*726A>G, NM_001278575.2:c.*726A>G, NM_001278578.2:c.*726A>G, NR_172935.1:n.1733A>G, NR_172937.1:n.1722A>G, NR_172934.1:n.1598A>G, NR_172936.1:n.1591A>G

Select item 81071817.

rs8107181 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:31593980 (GRCh38)
19:32084886 (GRCh37)
Canonical SPDI:: NC_000019.10:31593979:T:G
Gene:: THEG5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.025093/474 (ALFA)
G=0.010723/180 (TOMMO)
G=0.013889/3 (Qatari)
G=0.018738/94 (1000Genomes)
G=0.020313/91 (Estonian)
G=0.021341/7 (HapMap)
G=0.022245/65 (KOREAN)
G=0.023208/6143 (TOPMED)
G=0.025/1 (GENOME_DK)
G=0.025232/3538 (GnomAD)
G=0.031553/117 (TWINSUK)
G=0.035/21 (NorthernSweden)
G=0.037104/143 (ALSPAC)
G=0.038076/38 (GoNL)
G=0.055556/12 (Vietnamese)
T=0.5/17 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31593980T>G, NC_000019.9:g.32084886T>G

Select item 93048268.

rs9304826 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:31587975 (GRCh38)
19:32078881 (GRCh37)
Canonical SPDI:: NC_000019.10:31587974:C:A
Gene:: THEG5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.017476/252 (ALFA)
A=0./0 (ALSPAC)
A=0.000035/1 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.00463/1 (Qatari)
A=0.019831/99 (1000Genomes)
A=0.023872/3347 (GnomAD)
A=0.025732/6811 (TOPMED)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31587975C>A, NC_000019.9:g.32078881C>A

Select item 93048279.

rs9304827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:31587980 (GRCh38)
19:32078886 (GRCh37)
Canonical SPDI:: NC_000019.10:31587979:G:A
Gene:: THEG5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.04648/878 (ALFA)
A=0.010758/180 (TOMMO)
A=0.018519/4 (Qatari)
A=0.020313/91 (Estonian)
A=0.021903/64 (KOREAN)
A=0.025/1 (GENOME_DK)
A=0.032093/119 (TWINSUK)
A=0.035/21 (NorthernSweden)
A=0.037074/37 (GoNL)
A=0.037104/143 (ALSPAC)
A=0.054653/274 (1000Genomes)
A=0.056604/12 (Vietnamese)
A=0.062543/8766 (GnomAD)
A=0.0633/16755 (TOPMED)
G=0.467742/29 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31587980G>A, NC_000019.9:g.32078886G>A

Select item 980782210.

rs9807822 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:31587703 (GRCh38)
19:32078609 (GRCh37)
Canonical SPDI:: NC_000019.10:31587702:T:A
Gene:: THEG5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.017476/252 (ALFA)
A=0./0 (ALSPAC)
A=0.000035/1 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.00463/1 (Qatari)
A=0.019831/99 (1000Genomes)
A=0.021212/7 (HapMap)
A=0.023908/3350 (GnomAD)
A=0.025728/6810 (TOPMED)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31587703T>A, NC_000019.9:g.32078609T>A

Select item 1016435311.

rs10164353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:31589924 (GRCh38)
19:32080830 (GRCh37)
Canonical SPDI:: NC_000019.10:31589923:G:A,NC_000019.10:31589923:G:C
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002739/342 (ALFA)
A=0./0 (ALSPAC)
A=0.000283/5 (TOMMO)
A=0.000539/2 (TWINSUK)
A=0.018894/95 (1000Genomes)
A=0.021212/7 (HapMap)
A=0.022349/3134 (GnomAD)
G=0.5/7 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31589924G>A, NC_000019.10:g.31589924G>C, NC_000019.9:g.32080830G>A, NC_000019.9:g.32080830G>C

Select item 1041770112.

rs10417701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:31589408 (GRCh38)
19:32080314 (GRCh37)
Canonical SPDI:: NC_000019.10:31589407:T:C,NC_000019.10:31589407:T:G
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000494/7 (ALFA)
C=0.010487/1471 (GnomAD)
C=0.010618/53 (1000Genomes)
C=0.018405/6 (HapMap)
T=0.428571/6 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31589408T>C, NC_000019.10:g.31589408T>G, NC_000019.9:g.32080314T>C, NC_000019.9:g.32080314T>G

Select item 1133880413.

rs11338804 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 19:31593900 (GRCh38)
19:32084806 (GRCh37)
Canonical SPDI:: NC_000019.10:31593899:TTTT:TTT
Gene:: THEG5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.022084/409 (ALFA)
-=0.010723/180 (TOMMO)
-=0.015147/76 (1000Genomes)
-=0.018716/4954 (TOPMED)
-=0.020313/91 (Estonian)
-=0.020887/2928 (GnomAD)
-=0.025/1 (GENOME_DK)
-=0.031553/117 (TWINSUK)
-=0.035/21 (NorthernSweden)
-=0.037104/143 (ALSPAC)
-=0.038076/38 (GoNL)
-=0.056075/12 (Vietnamese)
HGVS:: NC_000019.10:g.31593903del, NC_000019.9:g.32084809del

Select item 1188012514.

rs11880125 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:31592317 (GRCh38)
19:32083223 (GRCh37)
Canonical SPDI:: NC_000019.10:31592316:A:C,NC_000019.10:31592316:A:G
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.030545/869 (ALFA)
G=0.010758/180 (TOMMO)
G=0.021205/95 (Estonian)
G=0.021903/64 (KOREAN)
G=0.022364/14 (Chileans)
G=0.027349/294 (ExAC)
G=0.032362/120 (TWINSUK)
G=0.035/21 (NorthernSweden)
G=0.037883/146 (ALSPAC)
G=0.038076/38 (GoNL)
G=0.042382/5419 (GnomAD_exomes)
G=0.060748/13 (Vietnamese)
G=0.083333/18 (Qatari)
G=0.126015/631 (1000Genomes)
G=0.128108/33909 (TOPMED)
G=0.160148/303 (HapMap)
A=0.380435/35 (SGDP_PRJ)
A=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31592317A>C, NC_000019.10:g.31592317A>G, NC_000019.9:g.32083223A>C, NC_000019.9:g.32083223A>G, NM_001205273.3:c.37A>C, NM_001205273.3:c.37A>G, NM_001205273.2:c.37A>C, NM_001205273.2:c.37A>G

Select item 1188078315.

rs11880783 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:31592398 (GRCh38)
19:32083304 (GRCh37)
Canonical SPDI:: NC_000019.10:31592397:T:C
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.038971/1201 (ALFA)
C=0.010758/180 (TOMMO)
C=0.018519/4 (Qatari)
C=0.020313/91 (Estonian)
C=0.021903/64 (KOREAN)
C=0.025/1 (GENOME_DK)
C=0.032093/119 (TWINSUK)
C=0.035/21 (NorthernSweden)
C=0.037104/143 (ALSPAC)
C=0.038076/38 (GoNL)
C=0.048876/245 (1000Genomes)
C=0.055556/12 (Vietnamese)
C=0.05593/14804 (TOPMED)
C=0.056128/7869 (GnomAD)
C=0.057576/19 (HapMap)
T=0.464286/26 (SGDP_PRJ)
T=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31592398T>C, NC_000019.9:g.32083304T>C

Select item 1188268016.

rs11882680 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:31590547 (GRCh38)
19:32081453 (GRCh37)
Canonical SPDI:: NC_000019.10:31590546:A:G
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.033563/634 (ALFA)
G=0.010758/180 (TOMMO)
G=0.013889/3 (Qatari)
G=0.020313/91 (Estonian)
G=0.021903/64 (KOREAN)
G=0.025/1 (GENOME_DK)
G=0.032093/119 (TWINSUK)
G=0.033417/167 (1000Genomes)
G=0.035/21 (NorthernSweden)
G=0.036585/12 (HapMap)
G=0.037104/143 (ALSPAC)
G=0.038076/38 (GoNL)
G=0.039869/10553 (TOPMED)
G=0.040397/5665 (GnomAD)
G=0.046296/10 (Vietnamese)
A=0.5/2 (Siberian)
A=0.5/22 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31590547A>G, NC_000019.9:g.32081453A>G

Select item 1188269117.

rs11882691 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 19:31592129 (GRCh38)
19:32083035 (GRCh37)
Canonical SPDI:: NC_000019.10:31592128:C:A,NC_000019.10:31592128:C:G,NC_000019.10:31592128:C:T
Gene:: THEG5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.031618/3224 (ALFA)
G=0.000156/1 (1000Genomes)
T=0.010758/180 (TOMMO)
T=0.021205/95 (Estonian)
T=0.021903/64 (KOREAN)
T=0.023148/5 (Qatari)
T=0.025/1 (GENOME_DK)
T=0.027778/2 (PRJEB36033)
T=0.032093/119 (TWINSUK)
T=0.035/21 (NorthernSweden)
T=0.037104/143 (ALSPAC)
T=0.038076/38 (GoNL)
T=0.055182/115 (HGDP_Stanford)
T=0.061321/13 (Vietnamese)
T=0.075791/20061 (TOPMED)
T=0.094709/179 (HapMap)
C=0.470588/32 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000019.10:g.31592129C>A, NC_000019.10:g.31592129C>G, NC_000019.10:g.31592129C>T, NC_000019.9:g.32083035C>A, NC_000019.9:g.32083035C>G, NC_000019.9:g.32083035C>T

Select item 1696592418.

rs16965924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:31586178 (GRCh38)
19:32077084 (GRCh37)
Canonical SPDI:: NC_000019.10:31586177:A:C,NC_000019.10:31586177:A:G
Gene:: THEG5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00229/49 (ALFA)
C=0./0 (TWINSUK)
C=0.00022/1 (Estonian)
C=0.00026/1 (ALSPAC)
C=0.00926/2 (Qatari)
C=0.01608/81 (1000Genomes)
C=0.058/58 (HapMap)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31586178A>C, NC_000019.10:g.31586178A>G, NC_000019.9:g.32077084A>C, NC_000019.9:g.32077084A>G

Select item 2850557519.

rs28505575 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:31586272 (GRCh38)
19:32077178 (GRCh37)
Canonical SPDI:: NC_000019.10:31586271:T:C
Gene:: THEG5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.005961/157 (ALFA)
C=0.010408/1460 (GnomAD)
C=0.011087/56 (1000Genomes)
C=0.011258/2980 (TOPMED)
C=0.014866/1170 (PAGE_STUDY)
T=0.428571/6 (SGDP_PRJ)
HGVS:: NC_000019.10:g.31586272T>C, NC_000019.9:g.32077178T>C

Select item 3402895220.

rs34028952 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:31594241 (GRCh38)
19:32085148 (GRCh37)
Canonical SPDI:: NC_000019.10:31594241:CCC:CCCC
Gene:: THEG5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000019.10:g.31594244dup, NC_000019.9:g.32085150dup

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