CORO7-PAM16 - SNP

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Select item 119891.

rs11989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:4340357 (GRCh38)
16:4390358 (GRCh37)
Canonical SPDI:: NC_000016.10:4340356:G:C,NC_000016.10:4340356:G:T
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.054202/14582 (ALFA)
T=0.025/1 (GENOME_DK)
T=0.043527/195 (Estonian)
T=0.045307/168 (TWINSUK)
T=0.050078/193 (ALSPAC)
T=0.057114/57 (GoNL)
T=0.060606/4 (PRJEB36033)
T=0.061667/37 (NorthernSweden)
T=0.061798/33 (MGP)
T=0.065789/20 (FINRISK)
T=0.072553/212 (KOREAN)
T=0.077136/9248 (ExAC)
T=0.086284/1121 (GoESP)
T=0.091139/72 (PRJEB37584)
T=0.091258/190 (HGDP_Stanford)
T=0.097565/1635 (TOMMO)
T=0.123437/9712 (PAGE_STUDY)
T=0.125/27 (Qatari)
T=0.130231/652 (1000Genomes)
T=0.137705/84 (Vietnamese)
T=0.138478/262 (HapMap)
G=0.466667/56 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000016.10:g.4340357G>C, NC_000016.10:g.4340357G>T, NC_000016.9:g.4390358G>C, NC_000016.9:g.4390358G>T, NG_016391.2:g.30597G>C, NG_016391.2:g.30597G>T, NT_187608.1:g.40721G>C, NT_187608.1:g.40721G>T, NG_054893.1:g.16016C>G, NG_054893.1:g.16016C>A, NM_016069.11:c.340C>G, NM_016069.11:c.340C>A, NM_016069.10:c.340C>G, NM_016069.10:c.340C>A, NM_016069.9:c.340C>G, NM_016069.9:c.340C>A, NM_001201479.2:c.3109C>G, NM_001201479.2:c.3109C>A, NM_001201479.1:c.3109C>G, NM_001201479.1:c.3109C>A, NP_057153.8:p.Gln114Glu, NP_057153.8:p.Gln114Lys, NP_001188408.1:p.Gln1037Glu, NP_001188408.1:p.Gln1037Lys

Select item 6218672.

rs621867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:4340646 (GRCh38)
16:4390647 (GRCh37)
Canonical SPDI:: NC_000016.10:4340645:C:G,NC_000016.10:4340645:C:T
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (KOREAN)
T=0.000021/3 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.4340646C>G, NC_000016.10:g.4340646C>T, NC_000016.9:g.4390647T>C, NC_000016.9:g.4390647T>G, NG_016391.2:g.30886C>G, NG_016391.2:g.30886C>T, NT_187608.1:g.41010C>G, NT_187608.1:g.41010C>T, NG_054893.1:g.15727G>C, NG_054893.1:g.15727G>A

Select item 7400173.

rs740017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4340031 (GRCh38)
16:4390032 (GRCh37)
Canonical SPDI:: NC_000016.10:4340030:G:C
Gene:: PAM16 (Varview), GLIS2 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.067761/1280 (ALFA)
C=0.001309/22 (TOMMO)
C=0.005476/16 (KOREAN)
C=0.025/1 (GENOME_DK)
C=0.031823/118 (TWINSUK)
C=0.032064/32 (GoNL)
C=0.036066/139 (ALSPAC)
C=0.04/24 (NorthernSweden)
C=0.055556/12 (Qatari)
C=0.058705/263 (Estonian)
C=0.078701/394 (1000Genomes)
C=0.079523/11149 (GnomAD)
C=0.086135/22799 (TOPMED)
G=0.394737/30 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000016.10:g.4340031G>C, NC_000016.9:g.4390032G>C, NG_016391.2:g.30271G>C, NT_187608.1:g.40395G>C, NG_054893.1:g.16342C>G

Select item 20721514.

rs2072151 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4341039 (GRCh38)
16:4391040 (GRCh37)
Canonical SPDI:: NC_000016.10:4341038:T:C
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.152142/26923 (ALFA)
C=0.075/3 (GENOME_DK)
C=0.115965/430 (TWINSUK)
C=0.126253/126 (GoNL)
C=0.128333/77 (NorthernSweden)
C=0.132071/509 (ALSPAC)
C=0.15/672 (Estonian)
C=0.179775/96 (MGP)
C=0.259527/1185 (GoESP)
C=0.274827/38461 (GnomAD)
C=0.28445/75291 (TOPMED)
C=0.296296/64 (Qatari)
C=0.322526/945 (KOREAN)
T=0.325/78 (SGDP_PRJ)
C=0.339319/1699 (1000Genomes)
C=0.364782/6114 (TOMMO)
C=0.417903/789 (HapMap)
T=0.5/8 (Siberian)
HGVS:: NC_000016.10:g.4341039T>C, NC_000016.9:g.4391040T>C, NG_016391.2:g.31279T>C, NT_187608.1:g.41403T>C, NG_054893.1:g.15334A>G

Select item 22893035.

rs2289303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:4343375 (GRCh38)
16:4393376 (GRCh37)
Canonical SPDI:: NC_000016.10:4343374:A:C
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.149265/3494 (ALFA)
C=0.001873/1 (MGP)
C=0.075/3 (GENOME_DK)
C=0.07974/233 (KOREAN)
C=0.100113/1678 (TOMMO)
C=0.102211/379 (TWINSUK)
C=0.112224/112 (GoNL)
C=0.115724/446 (ALSPAC)
C=0.116667/70 (NorthernSweden)
C=0.11808/529 (Estonian)
C=0.12963/28 (Vietnamese)
C=0.196547/27546 (GnomAD)
C=0.204934/54244 (TOPMED)
C=0.226577/1135 (1000Genomes)
C=0.231481/50 (Qatari)
A=0.393617/74 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000016.10:g.4343375A>C, NC_000016.9:g.4393376A>C, NG_054893.1:g.12998T>G, NT_187608.1:g.43739A>C

Select item 37475796.

rs3747579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4395326 (GRCh38)
16:4445327 (GRCh37)
Canonical SPDI:: NC_000016.10:4395325:C:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.30123/114535 (ALFA)
C=0.166667/9 (Siberian)
C=0.176792/518 (KOREAN)
C=0.184337/3089 (TOMMO)
C=0.22/132 (NorthernSweden)
C=0.23058/1033 (Estonian)
C=0.242347/95 (SGDP_PRJ)
C=0.25/10 (GENOME_DK)
C=0.256579/78 (FINRISK)
C=0.27027/20 (PRJEB36033)
C=0.276144/169 (Vietnamese)
C=0.287494/1108 (ALSPAC)
C=0.288565/1070 (TWINSUK)
C=0.296593/296 (GoNL)
C=0.346996/87062 (GnomAD_exomes)
C=0.350066/42344 (ExAC)
C=0.357678/191 (MGP)
C=0.383877/800 (HGDP_Stanford)
T=0.445704/35076 (PAGE_STUDY)
C=0.448718/62834 (GnomAD)
C=0.45244/5879 (GoESP)
C=0.465571/123232 (TOPMED)
T=0.468288/886 (HapMap)
C=0.481481/104 (Qatari)
T=0.494691/2477 (1000Genomes)
HGVS:: NC_000016.10:g.4395326C>T, NC_000016.9:g.4445327C>T, NG_052966.1:g.26636G>A, NM_024535.5:c.578G>A, NM_024535.4:c.578G>A, NM_001351729.2:c.-83G>A, NM_001351729.1:c.-83G>A, NM_001201472.2:c.524G>A, NM_001201472.1:c.524G>A, NM_001201473.2:c.323G>A, NM_001201473.1:c.323G>A, NT_187608.1:g.97649C>T, NM_001201479.2:c.578G>A, NM_001201479.1:c.578G>A, NR_145128.1:n.676G>A, NP_078811.3:p.Arg193Gln, NP_001188401.1:p.Arg175Gln, NP_001188402.1:p.Arg108Gln, NP_001188408.1:p.Arg193Gln

Select item 65005957.

rs6500595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:4351057 (GRCh38)
16:4401058 (GRCh37)
Canonical SPDI:: NC_000016.10:4351056:G:C
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.187242/3537 (ALFA)
C=0.075/3 (GENOME_DK)
C=0.087973/256 (KOREAN)
C=0.099245/368 (TWINSUK)
C=0.100223/449 (Estonian)
C=0.102804/22 (Vietnamese)
C=0.103647/1737 (TOMMO)
C=0.110535/426 (ALSPAC)
C=0.115/69 (NorthernSweden)
C=0.258637/36247 (GnomAD)
C=0.271196/71783 (TOPMED)
C=0.282407/61 (Qatari)
C=0.294347/1474 (1000Genomes)
G=0.335/67 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000016.10:g.4351057G>C, NC_000016.9:g.4401058G>C, NG_054893.1:g.5316C>G, NT_187608.1:g.53381G>C

Select item 99378548.

rs9937854 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4351487 (GRCh38)
16:4401488 (GRCh37)
Canonical SPDI:: NC_000016.10:4351486:A:G
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.227528/6151 (ALFA)
G=0.075/3 (GENOME_DK)
G=0.08882/259 (KOREAN)
G=0.099245/368 (TWINSUK)
G=0.100446/450 (Estonian)
G=0.104445/1750 (TOMMO)
G=0.110535/426 (ALSPAC)
G=0.115/69 (NorthernSweden)
G=0.25802/36095 (GnomAD)
G=0.270864/71695 (TOPMED)
G=0.277778/60 (Qatari)
G=0.294816/1476 (1000Genomes)
A=0.326733/66 (SGDP_PRJ)
G=0.345503/653 (HapMap)
A=0.5/3 (Siberian)
HGVS:: NC_000016.10:g.4351487A>G, NC_000016.9:g.4401488A>G, NG_054893.1:g.4886T>C, NT_187608.1:g.53811A>G

Select item 124456939.

rs12445693 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:4341732 (GRCh38)
16:4391733 (GRCh37)
Canonical SPDI:: NC_000016.10:4341731:T:A
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.220911/4173 (ALFA)
A=0.080424/235 (KOREAN)
A=0.100227/1680 (TOMMO)
A=0.114617/425 (TWINSUK)
A=0.121667/73 (NorthernSweden)
A=0.122244/122 (GoNL)
A=0.122642/26 (Vietnamese)
A=0.131292/506 (ALSPAC)
A=0.140625/630 (Estonian)
A=0.277778/60 (Qatari)
A=0.295185/41317 (GnomAD)
A=0.307571/81411 (TOPMED)
T=0.309524/65 (SGDP_PRJ)
A=0.323392/1620 (1000Genomes)
A=0.378436/716 (HapMap)
T=0.5/4 (Siberian)
HGVS:: NC_000016.10:g.4341732T>A, NC_000016.9:g.4391733T>A, NG_054893.1:g.14641A>T, NT_187608.1:g.42096T>A

Select item 3436796810.

rs34367968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4407594 (GRCh38)
16:4457595 (GRCh37)
Canonical SPDI:: NC_000016.10:4407593:G:A
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000565/28 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000517/110 (GnomAD_exomes)
A=0.001291/55 (ExAC)
A=0.002573/681 (TOPMED)
A=0.002603/365 (GnomAD)
A=0.003391/44 (GoESP)
A=0.003748/19 (1000Genomes)
HGVS:: NC_000016.10:g.4407594G>A, NC_000016.9:g.4457595G>A, NG_052966.1:g.14368C>T, NM_024535.5:c.394C>T, NM_024535.4:c.394C>T, NM_001351729.2:c.-206C>T, NM_001351729.1:c.-206C>T, NM_001201472.2:c.340C>T, NM_001201472.1:c.340C>T, NT_187608.1:g.109917G>A, NM_001201479.2:c.394C>T, NM_001201479.1:c.394C>T, NR_145128.1:n.553C>T

Select item 5584590111.

rs55845901 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4341566 (GRCh38)
16:4391567 (GRCh37)
Canonical SPDI:: NC_000016.10:4341565:C:T
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016919/396 (ALFA)
T=0./0 (TWINSUK)
T=0.000259/1 (ALSPAC)
T=0.003008/50 (TOMMO)
T=0.003765/11 (KOREAN)
T=0.008158/1186 (GnomAD_exomes)
T=0.013889/3 (Qatari)
T=0.022826/389 (ExAC)
T=0.03368/4721 (GnomAD)
T=0.034909/9240 (TOPMED)
T=0.037789/189 (1000Genomes)
C=0.375/6 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4341566C>T, NC_000016.9:g.4391567C>T, NG_016391.2:g.31806C>T, NT_187608.1:g.41930C>T, NG_054893.1:g.14807G>A

Select item 5748714012.

rs57487140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4341280 (GRCh38)
16:4391281 (GRCh37)
Canonical SPDI:: NC_000016.10:4341279:A:G
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.029681/428 (ALFA)
G=0.023148/5 (Qatari)
G=0.039249/5502 (GnomAD)
G=0.040882/10821 (TOPMED)
G=0.04263/213 (1000Genomes)
A=0.416667/10 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4341280A>G, NC_000016.9:g.4391281A>G, NG_016391.2:g.31520A>G, NT_187608.1:g.41644A>G, NG_054893.1:g.15093T>C

Select item 5986693913.

rs59866939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:4351556 (GRCh38)
16:4401557 (GRCh37)
Canonical SPDI:: NC_000016.10:4351555:G:A,NC_000016.10:4351555:G:T
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.026764/453 (ALFA)
T=0.05/2 (GENOME_DK)
T=0.052455/235 (Estonian)
T=0.06877/255 (TWINSUK)
T=0.076544/295 (ALSPAC)
T=0.076712/224 (KOREAN)
T=0.078333/47 (NorthernSweden)
T=0.099476/1667 (TOMMO)
T=0.109524/23 (Vietnamese)
T=0.119434/31613 (TOPMED)
T=0.148345/743 (1000Genomes)
T=0.189815/41 (Qatari)
G=0.462121/61 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000016.10:g.4351556G>A, NC_000016.10:g.4351556G>T, NC_000016.9:g.4401557G>A, NC_000016.9:g.4401557G>T, NG_054893.1:g.4817C>T, NG_054893.1:g.4817C>A, NT_187608.1:g.53880G>A, NT_187608.1:g.53880G>T

Select item 7276657114.

rs72766571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:4341808 (GRCh38)
16:4391809 (GRCh37)
Canonical SPDI:: NC_000016.10:4341807:T:C
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.017092/328 (ALFA)
C=0.003333/2 (NorthernSweden)
C=0.003795/17 (Estonian)
C=0.01002/10 (GoNL)
C=0.012675/47 (TWINSUK)
C=0.015309/59 (ALSPAC)
C=0.020612/103 (1000Genomes)
C=0.024493/3430 (GnomAD)
C=0.025/1 (GENOME_DK)
C=0.026578/7035 (TOPMED)
C=0.046296/10 (Qatari)
T=0.5/5 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4341808T>C, NC_000016.9:g.4391809T>C, NG_054893.1:g.14565A>G, NT_187608.1:g.42172T>C

Select item 7276657315.

rs72766573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:4343195 (GRCh38)
16:4393196 (GRCh37)
Canonical SPDI:: NC_000016.10:4343194:A:G
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.042287/1182 (ALFA)
G=0./0 (KOREAN)
G=0.000071/1 (TOMMO)
G=0.016396/82 (1000Genomes)
G=0.022874/297 (GoESP)
G=0.024466/6476 (TOPMED)
G=0.025/15 (NorthernSweden)
G=0.025791/3047 (ExAC)
G=0.026126/3663 (GnomAD)
G=0.026982/6700 (GnomAD_exomes)
G=0.031835/17 (MGP)
G=0.032434/125 (ALSPAC)
G=0.033113/10 (FINRISK)
G=0.034068/34 (GoNL)
G=0.03452/128 (TWINSUK)
G=0.056027/251 (Estonian)
G=0.060185/13 (Qatari)
A=0.5/3 (Siberian)
A=0.5/7 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4343195A>G, NC_000016.9:g.4393196A>G, NG_054893.1:g.13178T>C, NT_187608.1:g.43559A>G

Select item 7350724516.

rs73507245 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 16:4340872 (GRCh38)
16:4390873 (GRCh37)
Canonical SPDI:: NC_000016.10:4340871:A:C,NC_000016.10:4340871:A:G
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.088352/3527 (ALFA)
G=0.001309/22 (TOMMO)
G=0.005818/17 (KOREAN)
G=0.049342/15 (FINRISK)
G=0.05/2 (GENOME_DK)
G=0.06/36 (NorthernSweden)
G=0.064128/64 (GoNL)
G=0.068231/253 (TWINSUK)
G=0.073034/39 (MGP)
G=0.073702/8874 (ExAC)
G=0.080176/309 (ALSPAC)
G=0.096652/433 (Estonian)
G=0.099001/496 (1000Genomes)
G=0.10862/15224 (GnomAD)
G=0.109623/1424 (GoESP)
G=0.1149/30413 (TOPMED)
G=0.115741/25 (Qatari)
A=0.413043/38 (SGDP_PRJ)
A=0.5/3 (Siberian)
HGVS:: NC_000016.10:g.4340872A>C, NC_000016.10:g.4340872A>G, NC_000016.9:g.4390873A>C, NC_000016.9:g.4390873A>G, NG_016391.2:g.31112A>C, NG_016391.2:g.31112A>G, NT_187608.1:g.41236A>C, NT_187608.1:g.41236A>G, NG_054893.1:g.15501T>G, NG_054893.1:g.15501T>C

Select item 11364023617.

rs113640236 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:4359512 (GRCh38)
16:4409513 (GRCh37)
Canonical SPDI:: NC_000016.10:4359511:G:A,NC_000016.10:4359511:G:C,NC_000016.10:4359511:G:T
Gene:: CORO7 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
A=0.00463/1 (Qatari)
A=0.006558/33 (1000Genomes)
A=0.0097/126 (GoESP)
A=0.012327/970 (PAGE_STUDY)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4359512G>A, NC_000016.10:g.4359512G>C, NC_000016.10:g.4359512G>T, NC_000016.9:g.4409513G>A, NC_000016.9:g.4409513G>C, NC_000016.9:g.4409513G>T, NG_052966.1:g.62450C>T, NG_052966.1:g.62450C>G, NG_052966.1:g.62450C>A, NM_024535.5:c.2218C>T, NM_024535.5:c.2218C>G, NM_024535.5:c.2218C>A, NM_024535.4:c.2218C>T, NM_024535.4:c.2218C>G, NM_024535.4:c.2218C>A, NM_001351729.2:c.1558C>T, NM_001351729.2:c.1558C>G, NM_001351729.2:c.1558C>A, NM_001351729.1:c.1558C>T, NM_001351729.1:c.1558C>G, NM_001351729.1:c.1558C>A, NM_001201472.2:c.2164C>T, NM_001201472.2:c.2164C>G, NM_001201472.2:c.2164C>A, NM_001201472.1:c.2164C>T, NM_001201472.1:c.2164C>G, NM_001201472.1:c.2164C>A, NM_001201473.2:c.1963C>T, NM_001201473.2:c.1963C>G, NM_001201473.2:c.1963C>A, NM_001201473.1:c.1963C>T, NM_001201473.1:c.1963C>G, NM_001201473.1:c.1963C>A, NT_187608.1:g.61835G>A, NT_187608.1:g.61835G>C, NT_187608.1:g.61835G>T, NM_001201479.2:c.2218C>T, NM_001201479.2:c.2218C>G, NM_001201479.2:c.2218C>A, NM_001201479.1:c.2218C>T, NM_001201479.1:c.2218C>G, NM_001201479.1:c.2218C>A, NR_145128.1:n.2316C>T, NR_145128.1:n.2316C>G, NR_145128.1:n.2316C>A, NP_078811.3:p.Pro740Ser, NP_078811.3:p.Pro740Ala, NP_078811.3:p.Pro740Thr, NP_001338658.1:p.Pro520Ser, NP_001338658.1:p.Pro520Ala, NP_001338658.1:p.Pro520Thr, NP_001188401.1:p.Pro722Ser, NP_001188401.1:p.Pro722Ala, NP_001188401.1:p.Pro722Thr, NP_001188402.1:p.Pro655Ser, NP_001188402.1:p.Pro655Ala, NP_001188402.1:p.Pro655Thr, NP_001188408.1:p.Pro740Ser, NP_001188408.1:p.Pro740Ala, NP_001188408.1:p.Pro740Thr

Select item 11665714918.

rs116657149 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:4340910 (GRCh38)
16:4390911 (GRCh37)
Canonical SPDI:: NC_000016.10:4340909:G:A
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009041/215 (ALFA)
A=0.000259/1 (ALSPAC)
A=0.00027/1 (TWINSUK)
A=0.004085/1025 (GnomAD_exomes)
A=0.00463/1 (Qatari)
A=0.004797/578 (ExAC)
A=0.015971/2238 (GnomAD)
A=0.016771/4439 (TOPMED)
A=0.017324/225 (GoESP)
A=0.022486/113 (1000Genomes)
G=0.45/9 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4340910G>A, NC_000016.9:g.4390911G>A, NG_016391.2:g.31150G>A, NT_187608.1:g.41274G>A, NG_054893.1:g.15463C>T

Select item 14297638519.

rs142976385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:4340913 (GRCh38)
16:4390914 (GRCh37)
Canonical SPDI:: NC_000016.10:4340912:C:A
Gene:: PAM16 (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006447/320 (ALFA)
A=0.000937/5 (1000Genomes)
A=0.003289/1 (FINRISK)
A=0.003333/2 (NorthernSweden)
A=0.003618/436 (ExAC)
A=0.003869/1024 (TOPMED)
A=0.003901/979 (GnomAD_exomes)
A=0.004423/620 (GnomAD)
A=0.004543/59 (GoESP)
A=0.006696/30 (Estonian)
A=0.00836/31 (TWINSUK)
A=0.009018/9 (GoNL)
A=0.0096/37 (ALSPAC)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.4340913C>A, NC_000016.9:g.4390914C>A, NG_016391.2:g.31153C>A, NT_187608.1:g.41277C>A, NG_054893.1:g.15460G>T

Select item 14363794520.

rs143637945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:4381582 (GRCh38)
16:4431583 (GRCh37)
Canonical SPDI:: NC_000016.10:4381581:C:T
Gene:: CORO7 (Varview), VASN (Varview), CORO7-PAM16 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.003441/154 (ALFA)
T=0.002475/542 (GnomAD_exomes)
T=0.004731/294 (ExAC)
T=0.009537/121 (GoESP)
T=0.011326/1589 (GnomAD)
T=0.011942/3161 (TOPMED)
T=0.012804/64 (1000Genomes)
HGVS:: NC_000016.10:g.4381582C>T, NC_000016.9:g.4431583C>T, NG_052966.1:g.40380G>A, NT_187608.1:g.83905C>T, NM_138440.3:c.705C>T, NM_138440.2:c.705C>T

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