CCR10 - SNP

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Select item 40286341.

rs4028634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42683631 (GRCh38)
17:40835649 (GRCh37)
Canonical SPDI:: NC_000017.11:42683630:T:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.422794/62270 (ALFA)
T=0.270833/13 (Siberian)
T=0.284444/128 (SGDP_PRJ)
T=0.325/13 (GENOME_DK)
T=0.355/213 (NorthernSweden)
T=0.378758/378 (GoNL)
T=0.381162/1469 (ALSPAC)
T=0.388619/1441 (TWINSUK)
C=0.391735/1147 (KOREAN)
T=0.404018/1810 (Estonian)
C=0.406114/744 (Korea1K)
T=0.439656/61470 (GnomAD)
T=0.44186/836 (HapMap)
T=0.448782/2248 (1000Genomes)
T=0.452514/119776 (TOPMED)
C=0.457844/7672 (TOMMO)
C=0.485981/104 (Vietnamese)
C=0.490741/106 (Qatari)
HGVS:: NC_000017.11:g.42683631T>C, NC_000017.10:g.40835649T>C, NG_042091.1:g.6018T>C, XM_005257748.5:c.-219T>C, XM_005257748.4:c.-219T>C, XM_005257748.3:c.-219T>C, XM_005257748.2:c.-219T>C, XM_005257748.1:c.-219T>C

Select item 80753492.

rs8075349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42683596 (GRCh38)
17:40835614 (GRCh37)
Canonical SPDI:: NC_000017.11:42683595:A:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.020104/409 (ALFA)
C=0./0 (PRJEB36033)
C=0.000223/1 (Estonian)
C=0.001557/6 (ALSPAC)
C=0.001618/6 (TWINSUK)
C=0.004008/4 (GoNL)
C=0.027778/6 (Qatari)
C=0.0283/3965 (GnomAD)
C=0.03135/8298 (TOPMED)
C=0.033104/166 (1000Genomes)
C=0.071981/93 (HapMap)
A=0.45/9 (SGDP_PRJ)
HGVS:: NC_000017.11:g.42683596A>C, NC_000017.10:g.40835614A>C, NG_042091.1:g.5983A>C, XM_005257748.5:c.-254A>C, XM_005257748.4:c.-254A>C, XM_005257748.3:c.-254A>C, XM_005257748.2:c.-254A>C, XM_005257748.1:c.-254A>C

Select item 129470313.

rs12947031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:42682613 (GRCh38)
17:40834631 (GRCh37)
Canonical SPDI:: NC_000017.11:42682612:G:A,NC_000017.11:42682612:G:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.377342/3787 (ALFA)
G=0.26087/12 (Siberian)
G=0.293839/124 (SGDP_PRJ)
C=0.384259/83 (Qatari)
C=0.39215/1149 (KOREAN)
C=0.406114/744 (Korea1K)
G=0.415/249 (NorthernSweden)
G=0.430721/1660 (ALSPAC)
G=0.432866/432 (GoNL)
G=0.437163/1621 (TWINSUK)
C=0.455598/7634 (TOMMO)
G=0.475/19 (GENOME_DK)
G=0.489694/2452 (1000Genomes)
C=0.495765/131224 (TOPMED)
HGVS:: NC_000017.11:g.42682613G>A, NC_000017.11:g.42682613G>C, NC_000017.10:g.40834631G>A, NC_000017.10:g.40834631G>C, NG_042091.1:g.5000G>A, NG_042091.1:g.5000G>C, NM_003632.3:c.-217G>A, NM_003632.3:c.-217G>C

Select item 348664914.

rs34866491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:42680177 (GRCh38)
17:40832195 (GRCh37)
Canonical SPDI:: NC_000017.11:42680176:G:A,NC_000017.11:42680176:G:C
Gene:: CCR10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00119/53 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
A=0.00476/1 (Vietnamese)
C=0.00984/127 (GoESP)
C=0.01343/67 (1000Genomes)
C=0.01852/4 (Qatari)
G=0.5/4 (SGDP_PRJ)
HGVS:: NC_000017.11:g.42680177G>A, NC_000017.11:g.42680177G>C, NC_000017.10:g.40832195G>A, NC_000017.10:g.40832195G>C, NG_042091.1:g.2564G>A, NG_042091.1:g.2564G>C, NM_016602.3:c.465C>T, NM_016602.3:c.465C>G, NM_016602.2:c.465C>T, NM_016602.2:c.465C>G

Select item 361084205.

rs36108420 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:42683801 (GRCh38)
17:40835820 (GRCh37)
Canonical SPDI:: NC_000017.11:42683801::T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.442644/12209 (ALFA)
-=0.325/13 (GENOME_DK)
-=0.355/213 (NorthernSweden)
T=0.375/3 (KOREAN)
-=0.381162/1469 (ALSPAC)
-=0.388889/1442 (TWINSUK)
-=0.405357/1816 (Estonian)
-=0.405863/47020 (ExAC)
T=0.407205/746 (Korea1K)
-=0.418405/101434 (GnomAD_exomes)
-=0.434803/5442 (GoESP)
-=0.440172/61544 (GnomAD)
-=0.452842/2268 (1000Genomes)
-=0.453821/120122 (TOPMED)
T=0.45849/7684 (TOMMO)
HGVS:: NC_000017.11:g.42683801_42683802insT, NC_000017.10:g.40835819_40835820insT, NG_042091.1:g.6188_6189insT, NG_080536.1:g.131_132insT

Select item 1430906396.

rs143090639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42681816 (GRCh38)
17:40833834 (GRCh37)
Canonical SPDI:: NC_000017.11:42681815:G:A
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000146/29 (ALFA)
A=0.000077/1 (GoESP)
A=0.00099/118 (ExAC)
A=0.001521/381 (GnomAD_exomes)
A=0.001834/257 (GnomAD)
A=0.001873/1 (MGP)
A=0.00203/10 (1000Genomes)
A=0.002478/656 (TOPMED)
A=0.003304/260 (PAGE_STUDY)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.42681816G>A, NC_000017.10:g.40833834G>A, NG_042091.1:g.4203G>A, NM_016602.3:c.8C>T, NM_016602.2:c.8C>T, NP_057686.2:p.Thr3Met

Select item 5586927477.

rs558692747 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:42683802 (GRCh38)
17:40835820 (GRCh37)
Canonical SPDI:: NC_000017.11:42683801:G:A,NC_000017.11:42683801:G:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.0004/2 (1000Genomes)
A=0.00109/48 (GnomAD_exomes)
A=0.00133/25 (ExAC)
A=0.00498/139 (GnomAD)
HGVS:: NC_000017.11:g.42683802G>A, NC_000017.11:g.42683802G>T, NC_000017.10:g.40835820G>A, NC_000017.10:g.40835820G>T, NG_042091.1:g.6189G>A, NG_042091.1:g.6189G>T, NG_080536.1:g.132G>A, NG_080536.1:g.132G>T

Select item 7465948088.

rs746594808 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42683823 (GRCh38)
17:40835841 (GRCh37)
Canonical SPDI:: NC_000017.11:42683822:G:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000017/2 (ExAC)
HGVS:: NC_000017.11:g.42683823G>C, NC_000017.10:g.40835841G>C, NG_042091.1:g.6210G>C, NM_003632.3:c.70G>C, NM_003632.2:c.70G>C, NG_080536.1:g.153G>C, XM_005257748.5:c.-159G>C, XM_005257748.4:c.-159G>C, XM_005257748.3:c.-159G>C, XM_005257748.2:c.-159G>C, XM_005257748.1:c.-159G>C, NP_003623.1:p.Gly24Arg

Select item 13470261099.

rs1347026109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42683840 (GRCh38)
17:40835858 (GRCh37)
Canonical SPDI:: NC_000017.11:42683839:G:A
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42683840G>A, NC_000017.10:g.40835858G>A, NG_042091.1:g.6227G>A, NM_003632.3:c.87G>A, NM_003632.2:c.87G>A, NG_080536.1:g.170G>A, XM_005257748.5:c.-142G>A, XM_005257748.4:c.-142G>A, XM_005257748.3:c.-142G>A, XM_005257748.2:c.-142G>A, XM_005257748.1:c.-142G>A

Select item 159780292710.

rs1597802927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42683822 (GRCh38)
17:40835840 (GRCh37)
Canonical SPDI:: NC_000017.11:42683821:C:G
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: pathogenic
HGVS:: NC_000017.11:g.42683822C>G, NC_000017.10:g.40835840C>G, NG_042091.1:g.6209C>G, NM_003632.3:c.69C>G, NM_003632.2:c.69C>G, NG_080536.1:g.152C>G, XM_005257748.5:c.-160C>G, XM_005257748.4:c.-160C>G, XM_005257748.3:c.-160C>G, XM_005257748.2:c.-160C>G, XM_005257748.1:c.-160C>G, NP_003623.1:p.Tyr23Ter

Select item 5672584611.

rs56725846 has merged into rs4028634 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42683631 (GRCh38)
17:40835649 (GRCh37)
Canonical SPDI:: NC_000017.11:42683630:T:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.422794/62270 (ALFA)
T=0.270833/13 (Siberian)
T=0.284444/128 (SGDP_PRJ)
T=0.325/13 (GENOME_DK)
T=0.355/213 (NorthernSweden)
T=0.378758/378 (GoNL)
T=0.381162/1469 (ALSPAC)
T=0.388619/1441 (TWINSUK)
C=0.391735/1147 (KOREAN)
T=0.404018/1810 (Estonian)
C=0.406114/744 (Korea1K)
T=0.439656/61470 (GnomAD)
T=0.44186/836 (HapMap)
T=0.448782/2248 (1000Genomes)
T=0.452514/119776 (TOPMED)
C=0.457844/7672 (TOMMO)
C=0.485981/104 (Vietnamese)
C=0.490741/106 (Qatari)
HGVS:: NC_000017.11:g.42683631T>C, NC_000017.10:g.40835649T>C, NG_042091.1:g.6018T>C, XM_005257748.5:c.-219T>C, XM_005257748.4:c.-219T>C, XM_005257748.3:c.-219T>C, XM_005257748.2:c.-219T>C, XM_005257748.1:c.-219T>C

Select item 11115436212.

rs111154362 has merged into rs12947031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:42682613 (GRCh38)
17:40834631 (GRCh37)
Canonical SPDI:: NC_000017.11:42682612:G:A,NC_000017.11:42682612:G:C
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.377342/3787 (ALFA)
G=0.26087/12 (Siberian)
G=0.293839/124 (SGDP_PRJ)
C=0.384259/83 (Qatari)
C=0.39215/1149 (KOREAN)
C=0.406114/744 (Korea1K)
G=0.415/249 (NorthernSweden)
G=0.430721/1660 (ALSPAC)
G=0.432866/432 (GoNL)
G=0.437163/1621 (TWINSUK)
C=0.455598/7634 (TOMMO)
G=0.475/19 (GENOME_DK)
G=0.489694/2452 (1000Genomes)
C=0.495765/131224 (TOPMED)
HGVS:: NC_000017.11:g.42682613G>A, NC_000017.11:g.42682613G>C, NC_000017.10:g.40834631G>A, NC_000017.10:g.40834631G>C, NG_042091.1:g.5000G>A, NG_042091.1:g.5000G>C, NM_003632.3:c.-217G>A, NM_003632.3:c.-217G>C

Select item 15026609713.

rs150266097 has merged into rs36108420 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:42683801 (GRCh38)
17:40835820 (GRCh37)
Canonical SPDI:: NC_000017.11:42683801::T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.442644/12209 (ALFA)
-=0.325/13 (GENOME_DK)
-=0.355/213 (NorthernSweden)
T=0.375/3 (KOREAN)
-=0.381162/1469 (ALSPAC)
-=0.388889/1442 (TWINSUK)
-=0.405357/1816 (Estonian)
-=0.405863/47020 (ExAC)
T=0.407205/746 (Korea1K)
-=0.418405/101434 (GnomAD_exomes)
-=0.434803/5442 (GoESP)
-=0.440172/61544 (GnomAD)
-=0.452842/2268 (1000Genomes)
-=0.453821/120122 (TOPMED)
T=0.45849/7684 (TOMMO)
HGVS:: NC_000017.11:g.42683801_42683802insT, NC_000017.10:g.40835819_40835820insT, NG_042091.1:g.6188_6189insT, NG_080536.1:g.131_132insT

Select item 187580514.

rs1875805 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:42683212 (GRCh38)
17:40835230 (GRCh37)
Canonical SPDI:: NC_000017.11:42683211:A:G,NC_000017.11:42683211:A:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.008405/115 (ALFA)
T=0./0 (ALSPAC)
T=0.00027/1 (TWINSUK)
T=0.032407/7 (Qatari)
T=0.050853/7077 (GnomAD)
T=0.053549/14174 (TOPMED)
T=0.054809/274 (1000Genomes)
T=0.059028/17 (HapMap)
A=0.5/7 (SGDP_PRJ)
HGVS:: NC_000017.11:g.42683212A>G, NC_000017.11:g.42683212A>T, NC_000017.10:g.40835230A>G, NC_000017.10:g.40835230A>T, NG_042091.1:g.5599A>G, NG_042091.1:g.5599A>T, XM_005257748.5:c.-638A>G, XM_005257748.5:c.-638A>T, XM_005257748.4:c.-638A>G, XM_005257748.4:c.-638A>T, XM_005257748.3:c.-638A>G, XM_005257748.3:c.-638A>T

Select item 376038315.

rs3760383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42683382 (GRCh38)
17:40835400 (GRCh37)
Canonical SPDI:: NC_000017.11:42683381:G:A
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000139/2 (ALFA)
A=0.000285/40 (GnomAD)
A=0.000502/133 (TOPMED)
A=0.001405/7 (1000Genomes)
A=0.003049/1 (HapMap)
A=0.008734/16 (Korea1K)
A=0.008778/147 (TOMMO)
A=0.009346/2 (Vietnamese)
A=0.010274/30 (KOREAN)
HGVS:: NC_000017.11:g.42683382G>A, NC_000017.10:g.40835400G>A, NG_042091.1:g.5769G>A, XM_005257748.5:c.-468G>A, XM_005257748.4:c.-468G>A, XM_005257748.3:c.-468G>A, XM_005257748.2:c.-468G>A, XM_005257748.1:c.-468G>A

Select item 376038416.

rs3760384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 17:42683433 (GRCh38)
17:40835451 (GRCh37)
Canonical SPDI:: NC_000017.11:42683432:A:C,NC_000017.11:42683432:A:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.411543/5462 (ALFA)
A=0.26087/12 (Siberian)
A=0.296729/127 (SGDP_PRJ)
C=0.37037/80 (Qatari)
C=0.392955/1149 (KOREAN)
C=0.406659/745 (Korea1K)
A=0.413333/248 (NorthernSweden)
A=0.429165/1654 (ALSPAC)
A=0.433927/1609 (TWINSUK)
C=0.452023/7576 (TOMMO)
A=0.456007/2042 (Estonian)
C=0.466981/99 (Vietnamese)
A=0.475/19 (GENOME_DK)
C=0.487608/905 (HapMap)
A=0.488913/2448 (1000Genomes)
A=0.494218/69070 (GnomAD)
C=0.497559/131699 (TOPMED)
HGVS:: NC_000017.11:g.42683433A>C, NC_000017.11:g.42683433A>T, NC_000017.10:g.40835451A>C, NC_000017.10:g.40835451A>T, NG_042091.1:g.5820A>C, NG_042091.1:g.5820A>T, XM_005257748.5:c.-417A>C, XM_005257748.5:c.-417A>T, XM_005257748.4:c.-417A>C, XM_005257748.4:c.-417A>T, XM_005257748.3:c.-417A>C, XM_005257748.3:c.-417A>T, XM_005257748.2:c.-417A>C, XM_005257748.2:c.-417A>T, XM_005257748.1:c.-417A>C, XM_005257748.1:c.-417A>T

Select item 479309817.

rs4793098 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:42681169 (GRCh38)
17:40833187 (GRCh37)
Canonical SPDI:: NC_000017.11:42681168:C:A,NC_000017.11:42681168:C:G,NC_000017.11:42681168:C:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.482689/9118 (ALFA)
T=0./0 (KOREAN)
C=0.28673/121 (SGDP_PRJ)
C=0.333333/12 (Siberian)
G=0.37037/80 (Qatari)
G=0.407205/746 (Korea1K)
C=0.413333/248 (NorthernSweden)
C=0.430202/1658 (ALSPAC)
C=0.435005/1613 (TWINSUK)
C=0.458705/2055 (Estonian)
G=0.458911/7690 (TOMMO)
C=0.475/19 (GENOME_DK)
C=0.490943/2459 (1000Genomes)
G=0.495523/131160 (TOPMED)
C=0.496542/69359 (GnomAD)
HGVS:: NC_000017.11:g.42681169C>A, NC_000017.11:g.42681169C>G, NC_000017.11:g.42681169C>T, NC_000017.10:g.40833187C>A, NC_000017.10:g.40833187C>G, NC_000017.10:g.40833187C>T, NG_042091.1:g.3556C>A, NG_042091.1:g.3556C>G, NG_042091.1:g.3556C>T, NG_080535.1:g.39C>A, NG_080535.1:g.39C>G, NG_080535.1:g.39C>T

Select item 1260046918.

rs12600469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:42682055 (GRCh38)
17:40834073 (GRCh37)
Canonical SPDI:: NC_000017.11:42682054:G:A,NC_000017.11:42682054:G:T
Gene:: CCR10 (Varview), CNTNAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.424713/2815 (ALFA)
G=0.270833/13 (Siberian)
G=0.273913/126 (SGDP_PRJ)
G=0.325/13 (GENOME_DK)
G=0.36/216 (NorthernSweden)
G=0.364147/1824 (1000Genomes)
G=0.365975/96870 (TOPMED)
G=0.375752/375 (GoNL)
G=0.380125/1465 (ALSPAC)
T=0.382253/1120 (KOREAN)
G=0.386462/1433 (TWINSUK)
T=0.406114/744 (Korea1K)
G=0.458333/99 (Qatari)
T=0.460138/7711 (TOMMO)
HGVS:: NC_000017.11:g.42682055G>A, NC_000017.11:g.42682055G>T, NC_000017.10:g.40834073G>A, NC_000017.10:g.40834073G>T, NG_042091.1:g.4442G>A, NG_042091.1:g.4442G>T

Select item 1294551619.

rs12945516 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:42678980 (GRCh38)
17:40830998 (GRCh37)
Canonical SPDI:: NC_000017.11:42678979:C:G,NC_000017.11:42678979:C:T
Gene:: CCR10 (Varview), PLEKHH3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003329/48 (ALFA)
T=0.00463/1 (Qatari)
T=0.004841/24 (1000Genomes)
T=0.004907/688 (GnomAD)
T=0.004979/1318 (TOPMED)
HGVS:: NC_000017.11:g.42678980C>G, NC_000017.11:g.42678980C>T, NC_000017.10:g.40830998C>G, NC_000017.10:g.40830998C>T, NG_042091.1:g.1367C>G, NG_042091.1:g.1367C>T, NM_016602.3:c.*573G>C, NM_016602.3:c.*573G>A

Select item 1294659120.

rs12946591 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:42678979 (GRCh38)
17:40830997 (GRCh37)
Canonical SPDI:: NC_000017.11:42678978:A:C
Gene:: CCR10 (Varview), PLEKHH3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00001/1 (ALFA)
HGVS:: NC_000017.11:g.42678979A>C, NC_000017.10:g.40830997A>C, NG_042091.1:g.1366A>C, NM_016602.3:c.*574T>G

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