TTC23 - SNP

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Select item 7729700391.

rs772970039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:99218714 (GRCh38)
15:99758919 (GRCh37)
Canonical SPDI:: NC_000015.10:99218713:C:A
Gene:: TTC23 (Varview)
Functional Consequence:: splice_acceptor_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000049/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000016/2 (ExAC)
A=0.000016/4 (GnomAD_exomes)
A=0.018519/4 (Qatari)
HGVS:: NC_000015.10:g.99218714C>A, NC_000015.9:g.99758919C>A

Select item 1819872.

rs181987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:99139450 (GRCh38)
15:99679655 (GRCh37)
Canonical SPDI:: NC_000015.10:99139449:C:A
Gene:: SYNM (Varview), TTC23 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.144836/14766 (ALFA)
A=0.033843/62 (Korea1K)
A=0.040717/25 (Vietnamese)
A=0.04449/130 (KOREAN)
A=0.087373/1464 (TOMMO)
A=0.087963/19 (Qatari)
A=0.099682/188 (HapMap)
A=0.106742/57 (MGP)
A=0.122361/255 (HGDP_Stanford)
A=0.12258/614 (1000Genomes)
A=0.138333/83 (NorthernSweden)
A=0.138619/514 (TWINSUK)
A=0.146567/36084 (GnomAD_exomes)
A=0.147355/20638 (GnomAD)
A=0.147379/568 (ALSPAC)
A=0.148691/39357 (TOPMED)
A=0.148884/667 (Estonian)
A=0.149523/1942 (GoESP)
A=0.15/6 (GENOME_DK)
A=0.169339/169 (GoNL)
A=0.171187/16687 (ExAC)
A=0.174342/53 (FINRISK)
A=0.195122/16 (PRJEB36033)
C=0.424242/56 (SGDP_PRJ)
C=0.444444/8 (Siberian)
HGVS:: NC_000015.10:g.99139450C>A, NC_000015.9:g.99679655C>A, NW_003871084.1:g.16391G>T, NR_109947.3:n.1663G>T, NR_109947.2:n.1741G>T, NR_109947.1:n.1701G>T, XM_017022035.2:c.*2864C>A, XM_011521935.2:c.1319G>T, XM_011521935.1:c.1319G>T, XM_011521939.2:c.1319G>T, XM_011521939.1:c.1319G>T, XM_011521936.2:c.1319G>T, XM_011521936.1:c.1319G>T, XM_024450028.2:c.1319G>T, XM_024450028.1:c.1319G>T, XM_047432952.1:c.1364G>T, XM_047432954.1:c.1319G>T, XM_047432953.1:c.1364G>T, XM_047432962.1:c.893G>T, XM_047432960.1:c.1206G>T, XP_011520237.1:p.Cys440Phe, XP_011520241.1:p.Cys440Phe, XP_011520238.1:p.Cys440Phe, XP_024305796.1:p.Cys440Phe, XP_047288908.1:p.Cys455Phe, XP_047288910.1:p.Cys440Phe, XP_047288909.1:p.Cys455Phe, XP_047288918.1:p.Cys298Phe

Select item 1877553.

rs187755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:99144227 (GRCh38)
15:99684432 (GRCh37)
Canonical SPDI:: NC_000015.10:99144226:C:A,NC_000015.10:99144226:C:G,NC_000015.10:99144226:C:T
Gene:: TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.24468/4622 (ALFA)
T=0./0 (KOREAN)
C=0.148148/32 (Qatari)
C=0.15/6 (GENOME_DK)
C=0.189189/98 (SGDP_PRJ)
C=0.196429/11 (Siberian)
C=0.21875/980 (Estonian)
C=0.228333/137 (NorthernSweden)
C=0.230303/76 (HapMap)
C=0.233916/1171 (1000Genomes)
C=0.235494/32980 (GnomAD)
C=0.243224/64379 (TOPMED)
C=0.244489/244 (GoNL)
C=0.25476/4270 (TOMMO)
C=0.25836/958 (TWINSUK)
C=0.259211/999 (ALSPAC)
C=0.272926/500 (Korea1K)
C=0.290476/61 (Vietnamese)
HGVS:: NC_000015.10:g.99144227C>A, NC_000015.10:g.99144227C>G, NC_000015.10:g.99144227C>T, NC_000015.9:g.99684432C>A, NC_000015.9:g.99684432C>G, NC_000015.9:g.99684432C>T, NW_003871084.1:g.11614G>T, NW_003871084.1:g.11614G>C, NW_003871084.1:g.11614G>A

Select item 2600884.

rs260088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:99137111 (GRCh38)
15:99677316 (GRCh37)
Canonical SPDI:: NC_000015.10:99137110:C:A,NC_000015.10:99137110:C:G,NC_000015.10:99137110:C:T
Gene:: SYNM (Varview), TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.151269/5449 (ALFA)
A=0.033843/62 (Korea1K)
A=0.042857/9 (Vietnamese)
A=0.04449/130 (KOREAN)
A=0.087621/1469 (TOMMO)
A=0.087963/19 (Qatari)
A=0.102345/192 (HapMap)
A=0.12336/618 (1000Genomes)
A=0.138333/83 (NorthernSweden)
A=0.139428/517 (TWINSUK)
A=0.147898/570 (ALSPAC)
A=0.148597/20825 (GnomAD)
A=0.149107/668 (Estonian)
A=0.150025/39710 (TOPMED)
A=0.170341/170 (GoNL)
C=0.423077/55 (SGDP_PRJ)
C=0.444444/8 (Siberian)
HGVS:: NC_000015.10:g.99137111C>A, NC_000015.10:g.99137111C>G, NC_000015.10:g.99137111C>T, NC_000015.9:g.99677316C>A, NC_000015.9:g.99677316C>G, NC_000015.9:g.99677316C>T, NG_008210.2:g.43898C>A, NG_008210.2:g.43898C>G, NG_008210.2:g.43898C>T, NW_003871084.1:g.18730G>T, NW_003871084.1:g.18730G>C, NW_003871084.1:g.18730G>A, NM_022905.4:c.*899G>T, NM_022905.4:c.*899G>C, NM_022905.4:c.*899G>A, NM_001288615.3:c.*899G>T, NM_001288615.3:c.*899G>C, NM_001288615.3:c.*899G>A, NM_001288615.2:c.*899G>T, NM_001288615.2:c.*899G>C, NM_001288615.2:c.*899G>A, NM_001288615.1:c.*899G>T, NM_001288615.1:c.*899G>C, NM_001288615.1:c.*899G>A, XM_011521927.3:c.*885G>T, XM_011521927.3:c.*885G>C, XM_011521927.3:c.*885G>A, XM_011521927.2:c.*885G>T, XM_011521927.2:c.*885G>C, XM_011521927.2:c.*885G>A, XM_011521927.1:c.*885G>T, XM_011521927.1:c.*885G>C, XM_011521927.1:c.*885G>A, NR_109947.3:n.2813G>T, NR_109947.3:n.2813G>C, NR_109947.3:n.2813G>A, NR_109947.2:n.2891G>T, NR_109947.2:n.2891G>C, NR_109947.2:n.2891G>A, NR_109947.1:n.2851G>T, NR_109947.1:n.2851G>C, NR_109947.1:n.2851G>A, NM_001288616.3:c.*899G>T, NM_001288616.3:c.*899G>C, NM_001288616.3:c.*899G>A, NM_001288616.2:c.*899G>T, NM_001288616.2:c.*899G>C, NM_001288616.2:c.*899G>A, NM_001288616.1:c.*899G>T, NM_001288616.1:c.*899G>C, NM_001288616.1:c.*899G>A, XM_017022035.2:c.*525C>A, XM_017022035.2:c.*525C>G, XM_017022035.2:c.*525C>T, XM_011521935.2:c.*885G>T, XM_011521935.2:c.*885G>C, XM_011521935.2:c.*885G>A, XM_011521935.1:c.*885G>T, XM_011521935.1:c.*885G>C, XM_011521935.1:c.*885G>A, XM_011521939.2:c.*885G>T, XM_011521939.2:c.*885G>C, XM_011521939.2:c.*885G>A, XM_011521939.1:c.*885G>T, XM_011521939.1:c.*885G>C, XM_011521939.1:c.*885G>A, XM_011521936.2:c.*885G>T, XM_011521936.2:c.*885G>C, XM_011521936.2:c.*885G>A, XM_011521936.1:c.*885G>T, XM_011521936.1:c.*885G>C, XM_011521936.1:c.*885G>A, NM_001353869.2:c.*899G>T, NM_001353869.2:c.*899G>C, NM_001353869.2:c.*899G>A, NM_001353869.1:c.*899G>T, NM_001353869.1:c.*899G>C, NM_001353869.1:c.*899G>A, XM_017022518.2:c.*899G>T, XM_017022518.2:c.*899G>C, XM_017022518.2:c.*899G>A, XM_017022518.1:c.*899G>T, XM_017022518.1:c.*899G>C, XM_017022518.1:c.*899G>A, XM_024450028.2:c.*885G>T, XM_024450028.2:c.*885G>C, XM_024450028.2:c.*885G>A, XM_024450028.1:c.*885G>T, XM_024450028.1:c.*885G>C, XM_024450028.1:c.*885G>A, XM_047432952.1:c.*885G>T, XM_047432952.1:c.*885G>C, XM_047432952.1:c.*885G>A, NM_001040655.1:c.*899G>T, NM_001040655.1:c.*899G>C, NM_001040655.1:c.*899G>A, NM_001040660.1:c.*899G>T, NM_001040660.1:c.*899G>C, NM_001040660.1:c.*899G>A, XM_047432955.1:c.*850G>T, XM_047432955.1:c.*850G>C, XM_047432955.1:c.*850G>A, XM_047432954.1:c.*885G>T, XM_047432954.1:c.*885G>C, XM_047432954.1:c.*885G>A, XM_047432956.1:c.*899G>T, XM_047432956.1:c.*899G>C, XM_047432956.1:c.*899G>A, XM_047432953.1:c.*885G>T, XM_047432953.1:c.*885G>C, XM_047432953.1:c.*885G>A, NM_001040656.1:c.*899G>T, NM_001040656.1:c.*899G>C, NM_001040656.1:c.*899G>A, NM_001018029.1:c.*899G>T, NM_001018029.1:c.*899G>C, NM_001018029.1:c.*899G>A, NM_001040657.1:c.*899G>T, NM_001040657.1:c.*899G>C, NM_001040657.1:c.*899G>A, NM_001040658.1:c.*899G>T, NM_001040658.1:c.*899G>C, NM_001040658.1:c.*899G>A, XM_047432962.1:c.*885G>T, XM_047432962.1:c.*885G>C, XM_047432962.1:c.*885G>A, NM_001040659.1:c.*899G>T, NM_001040659.1:c.*899G>C, NM_001040659.1:c.*899G>A

Select item 2600895.

rs260089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 15:99137940 (GRCh38)
15:99678145 (GRCh37)
Canonical SPDI:: NC_000015.10:99137939:G:A,NC_000015.10:99137939:G:C,NC_000015.10:99137939:G:T
Gene:: SYNM (Varview), TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.143356/15631 (ALFA)
A=0.032751/60 (Korea1K)
A=0.040383/118 (KOREAN)
A=0.047619/10 (Vietnamese)
A=0.08656/1451 (TOMMO)
A=0.087963/19 (Qatari)
A=0.101124/54 (MGP)
A=0.103066/195 (HapMap)
A=0.119808/75 (Chileans)
A=0.122267/612 (1000Genomes)
A=0.131667/79 (NorthernSweden)
A=0.138619/514 (TWINSUK)
A=0.145982/654 (Estonian)
A=0.146602/20541 (GnomAD)
A=0.147639/569 (ALSPAC)
A=0.148638/39343 (TOPMED)
A=0.15/6 (GENOME_DK)
A=0.154321/175 (Daghestan)
A=0.155629/47 (FINRISK)
A=0.169339/169 (GoNL)
G=0.415385/54 (SGDP_PRJ)
G=0.444444/8 (Siberian)
HGVS:: NC_000015.10:g.99137940G>A, NC_000015.10:g.99137940G>C, NC_000015.10:g.99137940G>T, NC_000015.9:g.99678145G>A, NC_000015.9:g.99678145G>C, NC_000015.9:g.99678145G>T, NW_003871084.1:g.17901C>T, NW_003871084.1:g.17901C>G, NW_003871084.1:g.17901C>A, NM_022905.4:c.*70C>T, NM_022905.4:c.*70C>G, NM_022905.4:c.*70C>A, NM_001288615.3:c.*70C>T, NM_001288615.3:c.*70C>G, NM_001288615.3:c.*70C>A, NM_001288615.2:c.*70C>T, NM_001288615.2:c.*70C>G, NM_001288615.2:c.*70C>A, NM_001288615.1:c.*70C>T, NM_001288615.1:c.*70C>G, NM_001288615.1:c.*70C>A, XM_011521927.3:c.*56C>T, XM_011521927.3:c.*56C>G, XM_011521927.3:c.*56C>A, XM_011521927.2:c.*56C>T, XM_011521927.2:c.*56C>G, XM_011521927.2:c.*56C>A, XM_011521927.1:c.*56C>T, XM_011521927.1:c.*56C>G, XM_011521927.1:c.*56C>A, NR_109947.3:n.1984C>T, NR_109947.3:n.1984C>G, NR_109947.3:n.1984C>A, NR_109947.2:n.2062C>T, NR_109947.2:n.2062C>G, NR_109947.2:n.2062C>A, NR_109947.1:n.2022C>T, NR_109947.1:n.2022C>G, NR_109947.1:n.2022C>A, NM_001288616.3:c.*70C>T, NM_001288616.3:c.*70C>G, NM_001288616.3:c.*70C>A, NM_001288616.2:c.*70C>T, NM_001288616.2:c.*70C>G, NM_001288616.2:c.*70C>A, NM_001288616.1:c.*70C>T, NM_001288616.1:c.*70C>G, NM_001288616.1:c.*70C>A, XM_017022035.2:c.*1354G>A, XM_017022035.2:c.*1354G>C, XM_017022035.2:c.*1354G>T, XM_011521935.2:c.*56C>T, XM_011521935.2:c.*56C>G, XM_011521935.2:c.*56C>A, XM_011521935.1:c.*56C>T, XM_011521935.1:c.*56C>G, XM_011521935.1:c.*56C>A, XM_011521939.2:c.*56C>T, XM_011521939.2:c.*56C>G, XM_011521939.2:c.*56C>A, XM_011521939.1:c.*56C>T, XM_011521939.1:c.*56C>G, XM_011521939.1:c.*56C>A, XM_011521936.2:c.*56C>T, XM_011521936.2:c.*56C>G, XM_011521936.2:c.*56C>A, XM_011521936.1:c.*56C>T, XM_011521936.1:c.*56C>G, XM_011521936.1:c.*56C>A, NM_001353869.2:c.*70C>T, NM_001353869.2:c.*70C>G, NM_001353869.2:c.*70C>A, NM_001353869.1:c.*70C>T, NM_001353869.1:c.*70C>G, NM_001353869.1:c.*70C>A, XM_017022518.2:c.*70C>T, XM_017022518.2:c.*70C>G, XM_017022518.2:c.*70C>A, XM_017022518.1:c.*70C>T, XM_017022518.1:c.*70C>G, XM_017022518.1:c.*70C>A, XM_024450028.2:c.*56C>T, XM_024450028.2:c.*56C>G, XM_024450028.2:c.*56C>A, XM_024450028.1:c.*56C>T, XM_024450028.1:c.*56C>G, XM_024450028.1:c.*56C>A, XM_047432952.1:c.*56C>T, XM_047432952.1:c.*56C>G, XM_047432952.1:c.*56C>A, NM_001040655.1:c.*70C>T, NM_001040655.1:c.*70C>G, NM_001040655.1:c.*70C>A, NM_001040660.1:c.*70C>T, NM_001040660.1:c.*70C>G, NM_001040660.1:c.*70C>A, XM_047432955.1:c.*21C>T, XM_047432955.1:c.*21C>G, XM_047432955.1:c.*21C>A, XM_047432954.1:c.*56C>T, XM_047432954.1:c.*56C>G, XM_047432954.1:c.*56C>A, XM_047432956.1:c.*70C>T, XM_047432956.1:c.*70C>G, XM_047432956.1:c.*70C>A, XM_047432953.1:c.*56C>T, XM_047432953.1:c.*56C>G, XM_047432953.1:c.*56C>A, NM_001040656.1:c.*70C>T, NM_001040656.1:c.*70C>G, NM_001040656.1:c.*70C>A, NM_001018029.1:c.*70C>T, NM_001018029.1:c.*70C>G, NM_001018029.1:c.*70C>A, NM_001040657.1:c.*70C>T, NM_001040657.1:c.*70C>G, NM_001040657.1:c.*70C>A, NM_001040658.1:c.*70C>T, NM_001040658.1:c.*70C>G, NM_001040658.1:c.*70C>A, XM_047432962.1:c.*56C>T, XM_047432962.1:c.*56C>G, XM_047432962.1:c.*56C>A, NM_001040659.1:c.*70C>T, NM_001040659.1:c.*70C>G, NM_001040659.1:c.*70C>A

Select item 2601126.

rs260112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:99146309 (GRCh38)
15:99686514 (GRCh37)
Canonical SPDI:: NC_000015.10:99146308:C:T
Gene:: TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.37845/10779 (ALFA)
T=0.238019/149 (Chileans)
T=0.287037/62 (Qatari)
T=0.287736/61 (Vietnamese)
T=0.3/12 (GENOME_DK)
T=0.30178/1119 (TWINSUK)
T=0.309375/1386 (Estonian)
T=0.311884/1202 (ALSPAC)
T=0.318333/191 (NorthernSweden)
T=0.32/16 (PRJEB36033)
T=0.338677/338 (GoNL)
T=0.344248/389 (Daghestan)
C=0.365714/128 (SGDP_PRJ)
C=0.386364/17 (Siberian)
T=0.398051/55747 (GnomAD)
T=0.404205/106989 (TOPMED)
T=0.405119/1187 (KOREAN)
T=0.426452/2136 (1000Genomes)
T=0.458686/866 (HapMap)
T=0.492852/8260 (TOMMO)
HGVS:: NC_000015.10:g.99146309C>T, NC_000015.9:g.99686514C>T, NW_003871084.1:g.9532G>A

Select item 2601137.

rs260113 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:99144944 (GRCh38)
15:99685149 (GRCh37)
Canonical SPDI:: NC_000015.10:99144943:G:A
Gene:: TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.334917/89727 (ALFA)
A=0.268519/58 (Qatari)
A=0.282407/61 (Vietnamese)
A=0.3/12 (GENOME_DK)
A=0.312837/1160 (TWINSUK)
A=0.321429/18 (PRJEB36033)
A=0.322263/1242 (ALSPAC)
A=0.34/204 (NorthernSweden)
G=0.347826/16 (Siberian)
A=0.349699/349 (GoNL)
A=0.350254/276 (PRJEB37584)
G=0.360795/127 (SGDP_PRJ)
A=0.36942/1655 (Estonian)
A=0.395873/825 (HGDP_Stanford)
A=0.404437/1185 (KOREAN)
A=0.410839/108745 (TOPMED)
A=0.414662/58080 (GnomAD)
A=0.4302/2154 (1000Genomes)
A=0.456614/863 (HapMap)
A=0.4663/36695 (PAGE_STUDY)
A=0.489985/8212 (TOMMO)
HGVS:: NC_000015.10:g.99144944G>A, NC_000015.9:g.99685149G>A, NW_003871084.1:g.10897C>T

Select item 2601148.

rs260114 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:99143900 (GRCh38)
15:99684105 (GRCh37)
Canonical SPDI:: NC_000015.10:99143899:T:C,NC_000015.10:99143899:T:G
Gene:: TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.26232/15416 (ALFA)
T=0.148148/32 (Qatari)
T=0.15/6 (GENOME_DK)
T=0.183398/95 (SGDP_PRJ)
T=0.196429/11 (Siberian)
T=0.216427/1084 (1000Genomes)
T=0.217857/976 (Estonian)
T=0.22274/58957 (TOPMED)
T=0.227801/431 (HapMap)
T=0.228333/137 (NorthernSweden)
T=0.243487/243 (GoNL)
T=0.245681/512 (HGDP_Stanford)
T=0.254583/4267 (TOMMO)
T=0.2589/960 (TWINSUK)
T=0.259211/999 (ALSPAC)
T=0.272926/500 (Korea1K)
T=0.276451/810 (KOREAN)
T=0.357143/20 (PRJEB36033)
HGVS:: NC_000015.10:g.99143900T>C, NC_000015.10:g.99143900T>G, NC_000015.9:g.99684105T>C, NC_000015.9:g.99684105T>G, NW_003871084.1:g.11941A>G, NW_003871084.1:g.11941A>C

Select item 2601159.

rs260115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:99143581 (GRCh38)
15:99683786 (GRCh37)
Canonical SPDI:: NC_000015.10:99143580:G:A
Gene:: TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.235616/39017 (ALFA)
A=0.055556/12 (Vietnamese)
A=0.108874/319 (KOREAN)
A=0.156628/2625 (TOMMO)
A=0.175/7 (GENOME_DK)
A=0.206667/124 (NorthernSweden)
A=0.208333/45 (Qatari)
A=0.209375/938 (Estonian)
A=0.217907/808 (TWINSUK)
A=0.21929/457 (HGDP_Stanford)
A=0.227037/875 (ALSPAC)
A=0.245491/245 (GoNL)
A=0.252643/478 (HapMap)
A=0.272642/1365 (1000Genomes)
A=0.291667/14 (PRJEB36033)
A=0.297696/41712 (GnomAD)
A=0.302614/80099 (TOPMED)
G=0.396226/84 (SGDP_PRJ)
G=0.46875/15 (Siberian)
HGVS:: NC_000015.10:g.99143581G>A, NC_000015.9:g.99683786G>A, NW_003871084.1:g.12260C>T

Select item 26011610.

rs260116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:99142647 (GRCh38)
15:99682852 (GRCh37)
Canonical SPDI:: NC_000015.10:99142646:G:A
Gene:: TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.149185/11293 (ALFA)
A=0.033843/62 (Korea1K)
A=0.037037/8 (Vietnamese)
A=0.04449/130 (KOREAN)
A=0.08755/1467 (TOMMO)
A=0.087963/19 (Qatari)
A=0.100849/190 (HapMap)
A=0.122361/255 (HGDP_Stanford)
A=0.122892/615 (1000Genomes)
A=0.129393/81 (Chileans)
A=0.138333/83 (NorthernSweden)
A=0.138619/514 (TWINSUK)
A=0.147898/570 (ALSPAC)
A=0.147943/20736 (GnomAD)
A=0.148884/667 (Estonian)
A=0.149065/39456 (TOPMED)
A=0.15/6 (GENOME_DK)
A=0.170341/170 (GoNL)
A=0.181818/16 (PRJEB36033)
G=0.430769/56 (SGDP_PRJ)
G=0.444444/8 (Siberian)
HGVS:: NC_000015.10:g.99142647G>A, NC_000015.9:g.99682852G>A, NW_003871084.1:g.13194C>T

Select item 26011711.

rs260117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:99141310 (GRCh38)
15:99681515 (GRCh37)
Canonical SPDI:: NC_000015.10:99141309:C:A,NC_000015.10:99141309:C:T
Gene:: SYNM (Varview), TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.144492/2689 (ALFA)
T=0.033843/62 (Korea1K)
T=0.037037/8 (Vietnamese)
T=0.044148/129 (KOREAN)
T=0.08755/1467 (TOMMO)
T=0.087963/19 (Qatari)
T=0.115854/38 (HapMap)
T=0.122267/612 (1000Genomes)
T=0.138333/83 (NorthernSweden)
T=0.138619/514 (TWINSUK)
T=0.146904/20516 (GnomAD)
T=0.147379/568 (ALSPAC)
T=0.147648/39081 (TOPMED)
T=0.148884/667 (Estonian)
T=0.15/6 (GENOME_DK)
T=0.170341/170 (GoNL)
C=0.429688/55 (SGDP_PRJ)
C=0.444444/8 (Siberian)
HGVS:: NC_000015.10:g.99141310C>A, NC_000015.10:g.99141310C>T, NC_000015.9:g.99681515C>A, NC_000015.9:g.99681515C>T, NW_003871084.1:g.14531G>T, NW_003871084.1:g.14531G>A, XM_017022035.2:c.*4724C>A, XM_017022035.2:c.*4724C>T

Select item 26011812.

rs260118 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:99139625 (GRCh38)
15:99679830 (GRCh37)
Canonical SPDI:: NC_000015.10:99139624:A:G
Gene:: SYNM (Varview), TTC23 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.236259/26031 (ALFA)
G=0.055556/12 (Vietnamese)
G=0.109215/320 (KOREAN)
G=0.156628/2625 (TOMMO)
G=0.175/7 (GENOME_DK)
G=0.206667/124 (NorthernSweden)
G=0.207865/111 (MGP)
G=0.208705/935 (Estonian)
G=0.217368/806 (TWINSUK)
G=0.226518/873 (ALSPAC)
G=0.226852/49 (Qatari)
G=0.237593/35323 (GnomAD_exomes)
G=0.244489/244 (GoNL)
G=0.247742/5375 (ExAC)
G=0.282051/88 (HapMap)
G=0.28654/1435 (1000Genomes)
G=0.30786/43098 (GnomAD)
G=0.312381/82684 (TOPMED)
A=0.4/88 (SGDP_PRJ)
A=0.46875/15 (Siberian)
HGVS:: NC_000015.10:g.99139625A>G, NC_000015.9:g.99679830A>G, NW_003871084.1:g.16216T>C, XM_017022035.2:c.*3039A>G

Select item 73582313.

rs735823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:99220956 (GRCh38)
15:99761161 (GRCh37)
Canonical SPDI:: NC_000015.10:99220955:C:T
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.422047/30005 (ALFA)
T=0.253521/4249 (TOMMO)
T=0.31059/569 (Korea1K)
T=0.319795/937 (KOREAN)
T=0.326984/618 (HapMap)
T=0.358526/1795 (1000Genomes)
T=0.373321/778 (HGDP_Stanford)
C=0.375/15 (Siberian)
C=0.378882/122 (SGDP_PRJ)
T=0.384242/101705 (TOPMED)
T=0.386921/54148 (GnomAD)
T=0.415094/88 (Vietnamese)
T=0.418838/418 (GoNL)
C=0.425/17 (GENOME_DK)
C=0.425926/92 (Qatari)
T=0.437946/1962 (Estonian)
T=0.441879/1703 (ALSPAC)
T=0.451667/271 (NorthernSweden)
T=0.459817/1705 (TWINSUK)
C=0.488372/42 (PRJEB36033)
HGVS:: NC_000015.10:g.99220956C>T, NC_000015.9:g.99761161C>T

Select item 75555114.

rs755551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:99151284 (GRCh38)
15:99691489 (GRCh37)
Canonical SPDI:: NC_000015.10:99151283:A:G
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.150254/2838 (ALFA)
G=0.034389/63 (Korea1K)
G=0.037383/8 (Vietnamese)
G=0.045175/132 (KOREAN)
G=0.087963/19 (Qatari)
G=0.088294/1480 (TOMMO)
G=0.118182/39 (HapMap)
G=0.122111/612 (1000Genomes)
G=0.138333/83 (NorthernSweden)
G=0.138889/515 (TWINSUK)
G=0.146875/20574 (GnomAD)
G=0.147387/660 (Estonian)
G=0.147898/570 (ALSPAC)
G=0.148306/39255 (TOPMED)
G=0.15/6 (GENOME_DK)
G=0.169339/169 (GoNL)
A=0.430769/56 (SGDP_PRJ)
A=0.444444/8 (Siberian)
HGVS:: NC_000015.10:g.99151284A>G, NC_000015.9:g.99691489A>G, NW_003871084.1:g.4557T>C

Select item 89669915.

rs896699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:99158852 (GRCh38)
15:99699057 (GRCh37)
Canonical SPDI:: NC_000015.10:99158851:C:G
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.010194/147 (ALFA)
G=0.01187/1665 (GnomAD)
G=0.012336/62 (1000Genomes)
G=0.012407/3284 (TOPMED)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000015.10:g.99158852C>G, NC_000015.9:g.99699057C>G

Select item 90697416.

rs906974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:99224654 (GRCh38)
15:99764859 (GRCh37)
Canonical SPDI:: NC_000015.10:99224653:A:G
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.384288/105358 (ALFA)
G=0.296296/64 (Qatari)
A=0.315789/12 (Siberian)
G=0.324281/203 (Chileans)
A=0.325641/127 (SGDP_PRJ)
G=0.35383/1312 (TWINSUK)
G=0.363333/218 (NorthernSweden)
G=0.368448/1420 (ALSPAC)
G=0.375/15 (GENOME_DK)
G=0.377358/80 (Vietnamese)
G=0.380282/432 (Daghestan)
G=0.380439/78019 (GENOGRAPHIC)
G=0.384375/1722 (Estonian)
G=0.407816/407 (GoNL)
A=0.415281/6960 (TOMMO)
G=0.424051/335 (PRJEB37584)
A=0.432432/32 (PRJEB36033)
G=0.450745/63126 (GnomAD)
G=0.453073/119924 (TOPMED)
G=0.472673/2367 (1000Genomes)
G=0.478157/1401 (KOREAN)
A=0.486378/38277 (PAGE_STUDY)
A=0.493644/932 (HapMap)
A=0.499454/915 (Korea1K)
HGVS:: NC_000015.10:g.99224654A>G, NC_000015.9:g.99764859A>G

Select item 102058917.

rs1020589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:99167140 (GRCh38)
15:99707345 (GRCh37)
Canonical SPDI:: NC_000015.10:99167139:C:T
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.99167140C>T, NC_000015.9:g.99707345C>T

Select item 102059018.

rs1020590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:99167313 (GRCh38)
15:99707518 (GRCh37)
Canonical SPDI:: NC_000015.10:99167312:C:A,NC_000015.10:99167312:C:G
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00044/7 (ALFA)
A=0.00156/8 (1000Genomes)
A=0.00654/4 (HapMap)
HGVS:: NC_000015.10:g.99167313C>A, NC_000015.10:g.99167313C>G, NC_000015.9:g.99707518C>A, NC_000015.9:g.99707518C>G

Select item 113426719.

rs1134267 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:99136540 (GRCh38)
15:99676745 (GRCh37)
Canonical SPDI:: NC_000015.10:99136539:T:G
Gene:: SYNM (Varview), TTC23 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.99136540T>G, NC_000015.9:g.99676745T>G, NG_008210.2:g.43327T>G, NW_003871084.1:g.19301A>C, NM_022905.4:c.*1470A>C, NM_001288615.3:c.*1470A>C, NM_001288615.2:c.*1470A>C, NM_001288615.1:c.*1470A>C, XM_011521927.3:c.*1456A>C, XM_011521927.2:c.*1456A>C, XM_011521927.1:c.*1456A>C, NR_109947.3:n.3384A>C, NR_109947.2:n.3462A>C, NR_109947.1:n.3422A>C, NM_001288616.3:c.*1470A>C, NM_001288616.2:c.*1470A>C, NM_001288616.1:c.*1470A>C, XM_017022035.2:c.3557T>G, XM_017022035.1:c.3557T>G, XM_011521935.2:c.*1456A>C, XM_011521935.1:c.*1456A>C, XM_011521939.2:c.*1456A>C, XM_011521939.1:c.*1456A>C, XM_011521936.2:c.*1456A>C, XM_011521936.1:c.*1456A>C, NM_001353869.2:c.*1470A>C, NM_001353869.1:c.*1470A>C, XM_017022518.2:c.*1470A>C, XM_017022518.1:c.*1470A>C, XM_024450028.2:c.*1456A>C, XM_024450028.1:c.*1456A>C, XM_047432952.1:c.*1456A>C, NM_001040655.1:c.*1470A>C, NM_001040660.1:c.*1470A>C, XM_047432955.1:c.*1421A>C, XM_047432954.1:c.*1456A>C, XM_047432956.1:c.*1470A>C, XM_047432953.1:c.*1456A>C, NM_001040656.1:c.*1470A>C, NM_001018029.1:c.*1470A>C, NM_001040657.1:c.*1470A>C, NM_001040658.1:c.*1470A>C, XM_047432962.1:c.*1456A>C, NM_001040659.1:c.*1470A>C, XP_016877524.1:p.Val1186Gly

Select item 122395020.

rs1223950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:99242457 (GRCh38)
15:99782662 (GRCh37)
Canonical SPDI:: NC_000015.10:99242456:A:C,NC_000015.10:99242456:A:G,NC_000015.10:99242456:A:T
Gene:: TTC23 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (KOREAN)
A=0.055556/12 (Qatari)
A=0.089286/5 (Siberian)
A=0.094891/52 (SGDP_PRJ)
A=0.125/5 (GENOME_DK)
A=0.145222/727 (1000Genomes)
A=0.147508/39044 (TOPMED)
A=0.1524/21351 (GnomAD)
A=0.152439/50 (HapMap)
A=0.178923/2999 (TOMMO)
A=0.179245/38 (Vietnamese)
A=0.185044/339 (Korea1K)
A=0.189955/851 (Estonian)
A=0.201667/121 (NorthernSweden)
A=0.212425/212 (GoNL)
A=0.212766/820 (ALSPAC)
A=0.214671/796 (TWINSUK)
HGVS:: NC_000015.10:g.99242457A>C, NC_000015.10:g.99242457A>G, NC_000015.10:g.99242457A>T, NC_000015.9:g.99782662A>C, NC_000015.9:g.99782662A>G, NC_000015.9:g.99782662A>T

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