OR13H1 - SNP

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Select item 573287541.

rs57328754 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: X:131544966 (GRCh38)
X:130678940 (GRCh37)
Canonical SPDI:: NC_000023.11:131544965:G:A,NC_000023.11:131544965:G:C,NC_000023.11:131544965:G:T
Gene:: OR13H1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002279/414 (ALFA)
A=0.000809/3 (TWINSUK)
A=0.001517/16 (GoESP)
A=0.002077/6 (ALSPAC)
A=0.00216/28 (TOMMO)
A=0.002346/244 (GnomAD)
A=0.004084/1081 (TOPMED)
A=0.004995/19 (1000Genomes)
A=0.005618/3 (MGP)
A=0.005917/493 (ExAC)
A=0.007529/22 (KOREAN)
G=0.25/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.131544966G>A, NC_000023.11:g.131544966G>C, NC_000023.11:g.131544966G>T, NC_000023.10:g.130678940G>A, NC_000023.10:g.130678940G>C, NC_000023.10:g.130678940G>T, NG_021190.4:g.38934C>T, NG_021190.4:g.38934C>G, NG_021190.4:g.38934C>A, NM_001004486.1:c.893G>A, NM_001004486.1:c.893G>C, NM_001004486.1:c.893G>T, NP_001004486.1:p.Arg298Gln, NP_001004486.1:p.Arg298Pro, NP_001004486.1:p.Arg298Leu

Select item 617483402.

rs61748340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:131544313 (GRCh38)
X:130678287 (GRCh37)
Canonical SPDI:: NC_000023.11:131544312:G:A
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000825/19 (ALFA)
A=0.000376/69 (GnomAD_exomes)
A=0.000433/38 (ExAC)
A=0.000832/3 (1000Genomes)
A=0.001325/14 (GoESP)
A=0.001509/157 (GnomAD)
A=0.001757/465 (TOPMED)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000023.11:g.131544313G>A, NC_000023.10:g.130678287G>A, NG_021190.4:g.39587C>T, NM_001004486.1:c.240G>A

Select item 1428393853.

rs142839385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:131544150 (GRCh38)
X:130678124 (GRCh37)
Canonical SPDI:: NC_000023.11:131544149:C:T
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000153/25 (ALFA)
T=0.000379/69 (GnomAD_exomes)
T=0.000468/40 (ExAC)
T=0.00143/149 (GnomAD)
T=0.001457/5 (1000Genomes)
T=0.001609/17 (GoESP)
T=0.002323/615 (TOPMED)
HGVS:: NC_000023.11:g.131544150C>T, NC_000023.10:g.130678124C>T, NG_021190.4:g.39750G>A, NM_001004486.1:c.77C>T, NP_001004486.1:p.Thr26Met

Select item 1819574864.

rs181957486 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:131544249 (GRCh38)
X:130678223 (GRCh37)
Canonical SPDI:: NC_000023.11:131544248:T:A
Gene:: OR13H1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000569/8 (ALFA)
A=0.000221/23 (GnomAD)
A=0.000416/2 (1000Genomes)
A=0.000786/208 (TOPMED)
A=0.001517/133 (ExAC)
A=0.001702/312 (GnomAD_exomes)
HGVS:: NC_000023.11:g.131544249T>A, NC_000023.10:g.130678223T>A, NG_021190.4:g.39651A>T, NM_001004486.1:c.176T>A, NP_001004486.1:p.Ile59Asn

Select item 3768787175.

rs376878717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:131544264 (GRCh38)
X:130678238 (GRCh37)
Canonical SPDI:: NC_000023.11:131544263:G:A,NC_000023.11:131544263:G:T
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000055/10 (GnomAD_exomes)
A=0.000057/5 (ExAC)
A=0.000058/6 (GnomAD)
A=0.000095/1 (GoESP)
A=0.003745/2 (MGP)
HGVS:: NC_000023.11:g.131544264G>A, NC_000023.11:g.131544264G>T, NC_000023.10:g.130678238G>A, NC_000023.10:g.130678238G>T, NG_021190.4:g.39636C>T, NG_021190.4:g.39636C>A, NM_001004486.1:c.191G>A, NM_001004486.1:c.191G>T, NP_001004486.1:p.Ser64Asn, NP_001004486.1:p.Ser64Ile

Select item 7510323506.

rs751032350 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:131544413 (GRCh38)
X:130678387 (GRCh37)
Canonical SPDI:: NC_000023.11:131544412:C:T
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/3 (ExAC)
T=0.000055/10 (GnomAD_exomes)
T=0.000077/8 (GnomAD)
T=0.000174/46 (TOPMED)
HGVS:: NC_000023.11:g.131544413C>T, NC_000023.10:g.130678387C>T, NG_021190.4:g.39487G>A, NM_001004486.1:c.340C>T

Select item 9159523567.

rs915952356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:131544386 (GRCh38)
X:130678360 (GRCh37)
Canonical SPDI:: NC_000023.11:131544385:T:C
Gene:: OR13H1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.131544386T>C, NC_000023.10:g.130678360T>C, NG_021190.4:g.39514A>G, NM_001004486.1:c.313T>C

Select item 4990308.

rs499030 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:131544493 (GRCh38)
X:130678467 (GRCh37)
Canonical SPDI:: NC_000023.11:131544492:A:C,NC_000023.11:131544492:A:G
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.365057/56892 (ALFA)
A=0.05/2 (Siberian)
A=0.088095/37 (SGDP_PRJ)
A=0.284501/536 (HapMap)
A=0.300672/3176 (GoESP)
A=0.304058/1148 (1000Genomes)
A=0.311299/3998 (TOMMO)
A=0.314815/34 (Qatari)
A=0.318712/84360 (TOPMED)
A=0.329352/965 (KOREAN)
G=0.35/14 (GENOME_DK)
A=0.354826/31114 (ExAC)
A=0.360773/66107 (GnomAD_exomes)
A=0.368914/197 (MGP)
A=0.374524/1082 (ALSPAC)
A=0.385383/1429 (TWINSUK)
A=0.412162/61 (Vietnamese)
HGVS:: NC_000023.11:g.131544493A>C, NC_000023.11:g.131544493A>G, NC_000023.10:g.130678467A>C, NC_000023.10:g.130678467A>G, NG_021190.4:g.39407T>G, NG_021190.4:g.39407T>C, NM_001004486.1:c.420A>C, NM_001004486.1:c.420A>G

Select item 6268309.

rs626830 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:131543079 (GRCh38)
X:130677053 (GRCh37)
Canonical SPDI:: NC_000023.11:131543078:C:A
Gene:: OR13H1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000413/39 (ALFA)
A=0.002125/221 (GnomAD)
A=0.002131/564 (TOPMED)
A=0.002289/9 (1000Genomes)
A=0.00495/2 (HapMap)
HGVS:: NC_000023.11:g.131543079C>A, NC_000023.10:g.130677053C>A, NG_021190.4:g.40821G>T

Select item 65541510.

rs655415 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: X:131544870 (GRCh38)
X:130678844 (GRCh37)
Canonical SPDI:: NC_000023.11:131544869:A:C,NC_000023.11:131544869:A:G,NC_000023.11:131544869:A:T
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.366683/104769 (ALFA)
T=0./0 (KOREAN)
T=0.000049/5 (GnomAD)
A=0.05/2 (Siberian)
A=0.088095/37 (SGDP_PRJ)
A=0.283069/535 (HapMap)
A=0.300577/3175 (GoESP)
A=0.304266/1149 (1000Genomes)
A=0.310461/647 (HGDP_Stanford)
A=0.311299/3998 (TOMMO)
A=0.314815/34 (Qatari)
A=0.318656/84345 (TOPMED)
C=0.35/14 (GENOME_DK)
A=0.368914/197 (MGP)
A=0.374178/1081 (ALSPAC)
A=0.385383/1429 (TWINSUK)
A=0.421769/62 (Vietnamese)
A=0.5/30 (PRJEB36033)
HGVS:: NC_000023.11:g.131544870A>C, NC_000023.11:g.131544870A>G, NC_000023.11:g.131544870A>T, NC_000023.10:g.130678844A>C, NC_000023.10:g.130678844A>G, NC_000023.10:g.130678844A>T, NG_021190.4:g.39030T>G, NG_021190.4:g.39030T>C, NG_021190.4:g.39030T>A, NM_001004486.1:c.797A>C, NM_001004486.1:c.797A>G, NM_001004486.1:c.797A>T, NP_001004486.1:p.Tyr266Ser, NP_001004486.1:p.Tyr266Cys, NP_001004486.1:p.Tyr266Phe

Select item 1731662511.

rs17316625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:131544622 (GRCh38)
X:130678596 (GRCh37)
Canonical SPDI:: NC_000023.11:131544621:C:G
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.299906/8272 (ALFA)
G=0.046416/136 (KOREAN)
G=0.061828/794 (TOMMO)
G=0.106383/5 (Vietnamese)
G=0.15/6 (GENOME_DK)
G=0.158221/281 (HapMap)
C=0.164557/26 (SGDP_PRJ)
G=0.180021/680 (1000Genomes)
C=0.1875/3 (Siberian)
G=0.225826/59774 (TOPMED)
G=0.238993/24682 (GnomAD)
G=0.250024/2641 (GoESP)
G=0.273244/23908 (ExAC)
G=0.276559/50511 (GnomAD_exomes)
G=0.342593/37 (Qatari)
G=0.342772/1271 (TWINSUK)
G=0.365871/1057 (ALSPAC)
G=0.372659/199 (MGP)
G=0.404049/459 (Daghestan)
HGVS:: NC_000023.11:g.131544622C>G, NC_000023.10:g.130678596C>G, NG_021190.4:g.39278G>C, NM_001004486.1:c.549C>G

PubMed LitVar

Select item 7363850512.

rs73638505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:131542229 (GRCh38)
X:130676203 (GRCh37)
Canonical SPDI:: NC_000023.11:131542228:C:T
Gene:: OR13H1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005765/81 (ALFA)
T=0.006484/671 (GnomAD)
T=0.00666/25 (1000Genomes)
T=0.007254/1920 (TOPMED)
C=0.25/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.131542229C>T, NC_000023.10:g.130676203C>T, NG_021190.4:g.41671G>A

Select item 13921319713.

rs139213197 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:131542494 (GRCh38)
X:130676468 (GRCh37)
Canonical SPDI:: NC_000023.11:131542493:G:A
Gene:: OR13H1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.063877/1183 (ALFA)
A=0.000342/1 (KOREAN)
A=0.053306/154 (ALSPAC)
A=0.055151/208 (1000Genomes)
A=0.058792/218 (TWINSUK)
A=0.074074/8 (Qatari)
A=0.075/3 (GENOME_DK)
A=0.075602/20011 (TOPMED)
A=0.075844/7837 (GnomAD)
G=0.214286/6 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000023.11:g.131542494G>A, NC_000023.10:g.130676468G>A, NG_021190.4:g.41406C>T

Select item 14110594114.

rs141105941 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:131545139 (GRCh38)
X:130679113 (GRCh37)
Canonical SPDI:: NC_000023.11:131545138:A:G
Gene:: OR13H1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001068/15 (ALFA)
G=0.002035/212 (GnomAD)
G=0.002248/595 (TOPMED)
G=0.003746/14 (1000Genomes)
G=0.009259/1 (Qatari)
HGVS:: NC_000023.11:g.131545139A>G, NC_000023.10:g.130679113A>G, NG_021190.4:g.38761T>C

Select item 14121165315.

rs141211653 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:131544958 (GRCh38)
X:130678932 (GRCh37)
Canonical SPDI:: NC_000023.11:131544957:T:A
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000095/1 (GoESP)
HGVS:: NC_000023.11:g.131544958T>A, NC_000023.10:g.130678932T>A, NG_021190.4:g.38942A>T, NM_001004486.1:c.885T>A, NP_001004486.1:p.Asp295Glu

Select item 14147222216.

rs141472222 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:131544518 (GRCh38)
X:130678492 (GRCh37)
Canonical SPDI:: NC_000023.11:131544517:T:C
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000095/1 (GoESP)
HGVS:: NC_000023.11:g.131544518T>C, NC_000023.10:g.130678492T>C, NG_021190.4:g.39382A>G, NM_001004486.1:c.445T>C, NP_001004486.1:p.Trp149Arg

Select item 14424020617.

rs144240206 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:131543361 (GRCh38)
X:130677335 (GRCh37)
Canonical SPDI:: NC_000023.11:131543360:A:G
Gene:: OR13H1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000216/4 (ALFA)
G=0.000914/95 (GnomAD)
G=0.001897/502 (TOPMED)
G=0.008741/33 (1000Genomes)
G=0.020833/1 (Vietnamese)
G=0.039014/114 (KOREAN)
G=0.039824/511 (TOMMO)
A=0.25/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.131543361A>G, NC_000023.10:g.130677335A>G, NG_021190.4:g.40539T>C

Select item 14442869118.

rs144428691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:131544624 (GRCh38)
X:130678598 (GRCh37)
Canonical SPDI:: NC_000023.11:131544623:T:A
Gene:: OR13H1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000053/14 (TOPMED)
A=0.000066/12 (GnomAD_exomes)
A=0.00008/7 (ExAC)
A=0.000087/9 (GnomAD)
A=0.000189/2 (GoESP)
HGVS:: NC_000023.11:g.131544624T>A, NC_000023.10:g.130678598T>A, NG_021190.4:g.39276A>T, NM_001004486.1:c.551T>A, NP_001004486.1:p.Ile184Asn

Select item 14461580019.

rs144615800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:131543893 (GRCh38)
X:130677867 (GRCh37)
Canonical SPDI:: NC_000023.11:131543892:G:A
Gene:: OR13H1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.014306/201 (ALFA)
A=0.019992/2078 (GnomAD)
A=0.021572/5710 (TOPMED)
A=0.027471/104 (1000Genomes)
G=0.166667/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.131543893G>A, NC_000023.10:g.130677867G>A, NG_021190.4:g.40007C>T

Select item 14623784620.

rs146237846 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:131542474 (GRCh38)
X:130676448 (GRCh37)
Canonical SPDI:: NC_000023.11:131542473:G:A
Gene:: OR13H1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.006429/121 (ALFA)
A=0.001873/7 (1000Genomes)
A=0.004896/1296 (TOPMED)
A=0.005282/547 (GnomAD)
A=0.009692/28 (ALSPAC)
A=0.013215/49 (TWINSUK)
A=0.075/3 (GENOME_DK)
HGVS:: NC_000023.11:g.131542474G>A, NC_000023.10:g.130676448G>A, NG_021190.4:g.41426C>T

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