CTAGE6 - SNP

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Select item 772466731.

rs77246673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:143756568 (GRCh38)
7:143453661 (GRCh37)
Canonical SPDI:: NC_000007.14:143756567:T:A,NC_000007.14:143756567:T:C,NC_000007.14:143756567:T:G
Gene:: CTAGE6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.099057/21 (Qatari)
G=0.207676/606 (KOREAN)
G=0.228954/3832 (TOMMO)
G=0.234809/37761 (GnomAD_exomes)
G=0.265459/1700 (1000Genomes)
G=0.323731/21666 (ExAC)
T=0.387097/24 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756568T>A, NC_000007.14:g.143756568T>C, NC_000007.14:g.143756568T>G, NC_000007.13:g.143453661T>A, NC_000007.13:g.143453661T>C, NC_000007.13:g.143453661T>G, NG_065172.1:g.6183A>T, NG_065172.1:g.6183A>G, NG_065172.1:g.6183A>C, NM_178561.5:c.1091A>T, NM_178561.5:c.1091A>G, NM_178561.5:c.1091A>C, NM_178561.4:c.1091A>T, NM_178561.4:c.1091A>G, NM_178561.4:c.1091A>C, NW_018654714.1:g.300889T>A, NW_018654714.1:g.300889T>C, NW_018654714.1:g.300889T>G, NP_848656.2:p.Glu364Val, NP_848656.2:p.Glu364Gly, NP_848656.2:p.Glu364Ala

Select item 2009077752.

rs200907775 has merged into rs77246673 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:143756568 (GRCh38)
7:143453661 (GRCh37)
Canonical SPDI:: NC_000007.14:143756567:T:A,NC_000007.14:143756567:T:C,NC_000007.14:143756567:T:G
Gene:: CTAGE6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.099057/21 (Qatari)
G=0.207676/606 (KOREAN)
G=0.228954/3832 (TOMMO)
G=0.234809/37761 (GnomAD_exomes)
G=0.265459/1700 (1000Genomes)
G=0.323731/21666 (ExAC)
T=0.387097/24 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756568T>A, NC_000007.14:g.143756568T>C, NC_000007.14:g.143756568T>G, NC_000007.13:g.143453661T>A, NC_000007.13:g.143453661T>C, NC_000007.13:g.143453661T>G, NG_065172.1:g.6183A>T, NG_065172.1:g.6183A>G, NG_065172.1:g.6183A>C, NM_178561.5:c.1091A>T, NM_178561.5:c.1091A>G, NM_178561.5:c.1091A>C, NM_178561.4:c.1091A>T, NM_178561.4:c.1091A>G, NM_178561.4:c.1091A>C, NW_018654714.1:g.300889T>A, NW_018654714.1:g.300889T>C, NW_018654714.1:g.300889T>G, NP_848656.2:p.Glu364Val, NP_848656.2:p.Glu364Gly, NP_848656.2:p.Glu364Ala

Select item 29666413.

rs2966641 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143754618 (GRCh38)
7:143451711 (GRCh37)
Canonical SPDI:: NC_000007.14:143754617:T:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.48475/7917 (ALFA)
C=0.05812/58 (GoNL)
C=0.37963/82 (Qatari)
T=0.43652/1279 (KOREAN)
T=0.44214/810 (Korea1K)
T=0.44239/215 (SGDP_PRJ)
T=0.44819/7511 (TOMMO)
T=0.49581/2483 (1000Genomes)
HGVS:: NC_000007.14:g.143754618T>C, NC_000007.13:g.143451711T>C, NG_065172.1:g.8133A>G, NG_044335.1:g.213A>G, NW_018654714.1:g.298939T>C

Select item 178556594.

rs17855659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143756425 (GRCh38)
7:143453518 (GRCh37)
Canonical SPDI:: NC_000007.14:143756424:C:T
Gene:: CTAGE6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.143756425C>T, NC_000007.13:g.143453518C>T, NG_065172.1:g.6326G>A, NM_178561.5:c.1234G>A, NM_178561.4:c.1234G>A, NW_018654714.1:g.300746C>T, NP_848656.2:p.Glu412Lys

Select item 572613755.

rs57261375 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:143756099 (GRCh38)
7:143453192 (GRCh37)
Canonical SPDI:: NC_000007.14:143756098:C:G,NC_000007.14:143756098:C:T
Gene:: CTAGE6 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.11536/1310 (ALFA)
G=0.00001/1 (GnomAD)
T=0.13462/28 (Qatari)
T=0.26038/1304 (1000Genomes)
T=0.3/12 (GENOME_DK)
T=0.37008/1165 (ExAC)
T=0.39888/6649 (TOMMO)
T=0.43914/1241 (KOREAN)
C=0.46094/118 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756099C>G, NC_000007.14:g.143756099C>T, NC_000007.13:g.143453192C>G, NC_000007.13:g.143453192C>T, NG_065172.1:g.6652G>C, NG_065172.1:g.6652G>A, NM_178561.5:c.1560G>C, NM_178561.5:c.1560G>A, NM_178561.4:c.1560G>C, NM_178561.4:c.1560G>A, NW_018654714.1:g.300420C>G, NW_018654714.1:g.300420C>T

Select item 624862886.

rs62486288 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143756685 (GRCh38)
7:143453778 (GRCh37)
Canonical SPDI:: NC_000007.14:143756684:T:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.063866/1595 (ALFA)
C=0.000213/4 (TOMMO)
C=0.000343/1 (KOREAN)
C=0.014286/3 (Qatari)
C=0.039194/251 (1000Genomes)
C=0.048333/29 (NorthernSweden)
C=0.053953/7298 (GnomAD)
C=0.089075/923 (ExAC)
T=0.5/11 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756685T>C, NC_000007.13:g.143453778T>C, NG_065172.1:g.6066A>G, NM_178561.5:c.974A>G, NM_178561.4:c.974A>G, NW_018654714.1:g.301006T>C, NP_848656.2:p.Asn325Ser

Select item 715289187.

rs71528918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:143759427 (GRCh38)
7:143456520 (GRCh37)
Canonical SPDI:: NC_000007.14:143759426:C:A
Gene:: CTAGE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.20943/3407 (ALFA)
C=0.06818/3 (SGDP_PRJ)
A=0.36393/5677 (TOMMO)
A=0.38481/1069 (KOREAN)
A=0.44286/93 (Qatari)
HGVS:: NC_000007.14:g.143759427C>A, NC_000007.13:g.143456520C>A, NG_065172.1:g.3324G>T, NW_018654714.1:g.303748C>A

Select item 1119335408.

rs111933540 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:143759478 (GRCh38)
7:143456571 (GRCh37)
Canonical SPDI:: NC_000007.14:143759477:A:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.143759478A>C, NC_000007.13:g.143456571A>C, NG_065172.1:g.3273T>G, NW_018654714.1:g.303799A>C

Select item 1133190029.

rs113319002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143758143 (GRCh38)
7:143455236 (GRCh37)
Canonical SPDI:: NC_000007.14:143758142:T:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.32947/5379 (ALFA)
C=0.17213/315 (Korea1K)
C=0.19062/557 (KOREAN)
C=0.20036/3356 (TOMMO)
C=0.27358/58 (Qatari)
C=0.32464/2079 (1000Genomes)
T=0.46407/155 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143758143T>C, NC_000007.13:g.143455236T>C, NG_065172.1:g.4608A>G, NW_018654714.1:g.302464T>C

Select item 18496168710.

rs184961687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:143758028 (GRCh38)
7:143455121 (GRCh37)
Canonical SPDI:: NC_000007.14:143758027:G:C,NC_000007.14:143758027:G:T
Gene:: CTAGE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000082/1 (ALFA)
T=0.001874/9 (1000Genomes)
T=0.001955/221 (GnomAD)
C=0.023596/63 (KOREAN)
T=0.083333/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143758028G>C, NC_000007.14:g.143758028G>T, NC_000007.13:g.143455121G>C, NC_000007.13:g.143455121G>T, NG_065172.1:g.4723C>G, NG_065172.1:g.4723C>A, NW_018654714.1:g.302349G>C, NW_018654714.1:g.302349G>T

Select item 18687220211.

rs186872202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:143759585 (GRCh38)
7:143456678 (GRCh37)
Canonical SPDI:: NC_000007.14:143759584:C:T
Gene:: CTAGE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.00124/21 (TOMMO)
HGVS:: NC_000007.14:g.143759585C>T, NC_000007.13:g.143456678C>T, NG_065172.1:g.3166G>A, NW_018654714.1:g.303906C>T

Select item 19213834512.

rs192138345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143756463 (GRCh38)
7:143453556 (GRCh37)
Canonical SPDI:: NC_000007.14:143756462:T:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/6 (ALFA)
C=0.000126/15 (ExAC)
C=0.000225/56 (GnomAD_exomes)
C=0.000229/32 (GnomAD)
C=0.000625/3 (1000Genomes)
C=0.005618/3 (MGP)
HGVS:: NC_000007.14:g.143756463T>C, NC_000007.13:g.143453556T>C, NG_065172.1:g.6288A>G, NM_178561.5:c.1196A>G, NM_178561.4:c.1196A>G, NW_018654714.1:g.300784T>C, NP_848656.2:p.Tyr399Cys

Select item 19953404613.

rs199534046 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:143759341 (GRCh38)
7:143456434 (GRCh37)
Canonical SPDI:: NC_000007.14:143759340:A:G
Gene:: CTAGE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.26398/4306 (ALFA)
G=0.14222/2358 (TOMMO)
G=0.17718/517 (KOREAN)
G=0.26667/56 (Qatari)
A=0.45706/149 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143759341A>G, NC_000007.13:g.143456434A>G, NG_065172.1:g.3410T>C, NW_018654714.1:g.303662A>G

Select item 19960699914.

rs199606999 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143756877 (GRCh38)
7:143453970 (GRCh37)
Canonical SPDI:: NC_000007.14:143756876:T:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.013133/235 (ALFA)
C=0.005621/28 (1000Genomes)
C=0.006667/4 (NorthernSweden)
C=0.011457/720 (GnomAD_exomes)
C=0.011609/1572 (GnomAD)
C=0.021073/22 (ExAC)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756877T>C, NC_000007.13:g.143453970T>C, NG_065172.1:g.5874A>G, NM_178561.5:c.782A>G, NM_178561.4:c.782A>G, NW_018654714.1:g.301198T>C, NP_848656.2:p.Asp261Gly

Select item 19973411815.

rs199734118 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143756451 (GRCh38)
7:143453544 (GRCh37)
Canonical SPDI:: NC_000007.14:143756450:G:A
Gene:: CTAGE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.004058/171 (ALFA)
A=0.001505/373 (GnomAD_exomes)
A=0.004671/559 (ExAC)
A=0.004762/1 (Qatari)
A=0.00572/70 (GoESP)
A=0.008952/1233 (GnomAD)
A=0.018582/119 (1000Genomes)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756451G>A, NC_000007.13:g.143453544G>A, NG_065172.1:g.6300C>T, NM_178561.5:c.1208C>T, NM_178561.4:c.1208C>T, NW_018654714.1:g.300772G>A, NP_848656.2:p.Thr403Ile

Select item 20030501116.

rs200305011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:143756373 (GRCh38)
7:143453466 (GRCh37)
Canonical SPDI:: NC_000007.14:143756372:T:C
Gene:: CTAGE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.030274/766 (ALFA)
C=0.002515/42 (TOMMO)
C=0.003084/9 (KOREAN)
C=0.011756/1395 (ExAC)
C=0.014834/74 (1000Genomes)
C=0.022766/3106 (GnomAD)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756373T>C, NC_000007.13:g.143453466T>C, NG_065172.1:g.6378A>G, NM_178561.5:c.1286A>G, NM_178561.4:c.1286A>G, NW_018654714.1:g.300694T>C, NP_848656.2:p.Gln429Arg

Select item 20041524717.

rs200415247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:143756669 (GRCh38)
7:143453762 (GRCh37)
Canonical SPDI:: NC_000007.14:143756668:G:A
Gene:: CTAGE6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000998/25 (ALFA)
A=0.000312/2 (1000Genomes)
A=0.000531/7 (ExAC)
A=0.001269/174 (GnomAD)
HGVS:: NC_000007.14:g.143756669G>A, NC_000007.13:g.143453762G>A, NG_065172.1:g.6082C>T, NM_178561.5:c.990C>T, NM_178561.4:c.990C>T, NW_018654714.1:g.300990G>A

Select item 20063968118.

rs200639681 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:143758219 (GRCh38)
7:143455312 (GRCh37)
Canonical SPDI:: NC_000007.14:143758218:T:A,NC_000007.14:143758218:T:C,NC_000007.14:143758218:T:G
Gene:: CTAGE6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.40183/6177 (ALFA)
C=0.29048/61 (Qatari)
T=0.38141/119 (SGDP_PRJ)
C=0.4441/2844 (1000Genomes)
C=0.4702/7870 (TOMMO)
C=0.47115/1372 (KOREAN)
HGVS:: NC_000007.14:g.143758219T>A, NC_000007.14:g.143758219T>C, NC_000007.14:g.143758219T>G, NC_000007.13:g.143455312T>A, NC_000007.13:g.143455312T>C, NC_000007.13:g.143455312T>G, NG_065172.1:g.4532A>T, NG_065172.1:g.4532A>G, NG_065172.1:g.4532A>C, NW_018654714.1:g.302540T>A, NW_018654714.1:g.302540T>C, NW_018654714.1:g.302540T>G

Select item 20071458219.

rs200714582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:143757075 (GRCh38)
7:143454168 (GRCh37)
Canonical SPDI:: NC_000007.14:143757074:C:G
Gene:: CTAGE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00258/42 (ALFA)
G=0.00211/132 (GnomAD)
HGVS:: NC_000007.14:g.143757075C>G, NC_000007.13:g.143454168C>G, NG_065172.1:g.5676G>C, NM_178561.5:c.584G>C, NM_178561.4:c.584G>C, NW_018654714.1:g.301396C>G, NP_848656.2:p.Cys195Ser

Select item 20102499220.

rs201024992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:143756250 (GRCh38)
7:143453343 (GRCh37)
Canonical SPDI:: NC_000007.14:143756249:C:A,NC_000007.14:143756249:C:T
Gene:: CTAGE6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006392/164 (ALFA)
T=0.004873/48 (GoESP)
T=0.008257/1094 (GnomAD)
T=0.016667/10 (NorthernSweden)
T=0.028571/6 (Qatari)
T=0.031592/2721 (ExAC)
T=0.043879/281 (1000Genomes)
T=0.166891/2792 (TOMMO)
T=0.220699/644 (KOREAN)
C=0.5/28 (SGDP_PRJ)
HGVS:: NC_000007.14:g.143756250C>A, NC_000007.14:g.143756250C>T, NC_000007.13:g.143453343C>A, NC_000007.13:g.143453343C>T, NG_065172.1:g.6501G>T, NG_065172.1:g.6501G>A, NM_178561.5:c.1409G>T, NM_178561.5:c.1409G>A, NM_178561.4:c.1409G>T, NM_178561.4:c.1409G>A, NW_018654714.1:g.300571C>A, NW_018654714.1:g.300571C>T, NP_848656.2:p.Arg470Leu, NP_848656.2:p.Arg470Gln

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