UTP3 - SNP - NCBI

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Select item 168453851.

rs16845385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:70688745 (GRCh38)
4:71554462 (GRCh37)
Canonical SPDI:: NC_000004.12:70688744:C:G,NC_000004.12:70688744:C:T
Gene:: UTP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001314/299 (ALFA)
G=0.000283/5 (TOMMO)
T=0.001873/1 (MGP)
T=0.002188/550 (GnomAD_exomes)
T=0.00283/341 (ExAC)
T=0.009423/1321 (GnomAD)
T=0.010227/2707 (TOPMED)
T=0.010534/137 (GoESP)
T=0.011087/56 (1000Genomes)
T=0.014282/1124 (PAGE_STUDY)
T=0.016018/14 (HapMap)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70688745C>G, NC_000004.12:g.70688745C>T, NC_000004.11:g.71554462C>G, NC_000004.11:g.71554462C>T, NM_020368.3:c.68C>G, NM_020368.3:c.68C>T, NM_020368.2:c.68C>G, NM_020368.2:c.68C>T, NP_065101.1:p.Thr23Arg, NP_065101.1:p.Thr23Met

Select item 168453872.

rs16845387 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:70688761 (GRCh38)
4:71554478 (GRCh37)
Canonical SPDI:: NC_000004.12:70688760:T:C,NC_000004.12:70688760:T:G
Gene:: UTP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00323/170 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.001873/1 (MGP)
G=0.003289/1 (FINRISK)
C=0.009509/1327 (GnomAD)
C=0.010261/2716 (TOPMED)
C=0.010534/137 (GoESP)
C=0.011087/56 (1000Genomes)
C=0.026582/21 (HapMap)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70688761T>C, NC_000004.12:g.70688761T>G, NC_000004.11:g.71554478T>C, NC_000004.11:g.71554478T>G, NM_020368.3:c.84T>C, NM_020368.3:c.84T>G, NM_020368.2:c.84T>C, NM_020368.2:c.84T>G, NP_065101.1:p.Asn28Lys

Select item 346481053.

rs34648105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:70689790 (GRCh38)
4:71555507 (GRCh37)
Canonical SPDI:: NC_000004.12:70689789:T:A
Gene:: UTP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.009628/1104 (ALFA)
A=0.001874/9 (1000Genomes)
A=0.00463/1 (Qatari)
A=0.005357/24 (Estonian)
A=0.006143/1626 (TOPMED)
A=0.006545/917 (GnomAD)
A=0.007344/1828 (GnomAD_exomes)
A=0.00774/931 (ExAC)
A=0.007791/101 (GoESP)
A=0.014271/55 (ALSPAC)
A=0.016721/62 (TWINSUK)
A=0.021667/13 (NorthernSweden)
A=0.029058/29 (GoNL)
A=0.075/3 (GENOME_DK)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70689790T>A, NC_000004.11:g.71555507T>A, NM_020368.3:c.1113T>A, NM_020368.2:c.1113T>A, NP_065101.1:p.Asp371Glu

Select item 527922344.

rs52792234 has merged into rs16845385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:70688745 (GRCh38)
4:71554462 (GRCh37)
Canonical SPDI:: NC_000004.12:70688744:C:G,NC_000004.12:70688744:C:T
Gene:: UTP3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001314/299 (ALFA)
G=0.000283/5 (TOMMO)
T=0.001873/1 (MGP)
T=0.002188/550 (GnomAD_exomes)
T=0.00283/341 (ExAC)
T=0.009423/1321 (GnomAD)
T=0.010227/2707 (TOPMED)
T=0.010534/137 (GoESP)
T=0.011087/56 (1000Genomes)
T=0.014282/1124 (PAGE_STUDY)
T=0.016018/14 (HapMap)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70688745C>G, NC_000004.12:g.70688745C>T, NC_000004.11:g.71554462C>G, NC_000004.11:g.71554462C>T, NM_020368.3:c.68C>G, NM_020368.3:c.68C>T, NM_020368.2:c.68C>G, NM_020368.2:c.68C>T, NP_065101.1:p.Thr23Arg, NP_065101.1:p.Thr23Met

Select item 37334885.

rs3733488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:70688558 (GRCh38)
4:71554275 (GRCh37)
Canonical SPDI:: NC_000004.12:70688557:C:T
Gene:: UTP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.076315/15148 (ALFA)
T=0.013689/40 (KOREAN)
T=0.032464/2555 (PAGE_STUDY)
T=0.034327/575 (TOMMO)
T=0.041199/22 (MGP)
T=0.046296/10 (Vietnamese)
T=0.049344/247 (1000Genomes)
T=0.049904/104 (HGDP_Stanford)
T=0.05/2 (GENOME_DK)
T=0.052903/14003 (TOPMED)
T=0.05623/7881 (GnomAD)
T=0.057813/259 (Estonian)
T=0.060185/13 (Qatari)
T=0.061667/37 (NorthernSweden)
T=0.074074/4 (PRJEB36033)
T=0.07515/75 (GoNL)
T=0.075748/15534 (GENOGRAPHIC)
T=0.081446/302 (TWINSUK)
T=0.081993/316 (ALSPAC)
T=0.086932/153 (HapMap)
T=0.10461/118 (Daghestan)
C=0.452381/19 (SGDP_PRJ)
C=0.5/5 (Siberian)
HGVS:: NC_000004.12:g.70688558C>T, NC_000004.11:g.71554275C>T, NM_020368.3:c.-120C>T, NM_020368.2:c.-120C>T

Select item 115419696.

rs11541969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:70689610 (GRCh38)
4:71555327 (GRCh37)
Canonical SPDI:: NC_000004.12:70689609:G:C
Gene:: UTP3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.70689610G>C, NC_000004.11:g.71555327G>C, NM_020368.3:c.933G>C, NM_020368.2:c.933G>C

Select item 168453807.

rs16845380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 4:70686588 (GRCh38)
4:71552305 (GRCh37)
Canonical SPDI:: NC_000004.12:70686587:T:A,NC_000004.12:70686587:T:C
Gene:: UTP3 (Varview), LOC101927297 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001986/269 (ALFA)
A=0.000142/2 (TOMMO)
C=0.00067/3 (Estonian)
C=0.001816/7 (ALSPAC)
C=0.002004/2 (GoNL)
C=0.002157/8 (TWINSUK)
C=0.004734/664 (GnomAD)
C=0.005119/1355 (TOPMED)
C=0.006871/34 (1000Genomes)
T=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70686588T>A, NC_000004.12:g.70686588T>C, NC_000004.11:g.71552305T>A, NC_000004.11:g.71552305T>C

Select item 168453838.

rs16845383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:70686681 (GRCh38)
4:71552398 (GRCh37)
Canonical SPDI:: NC_000004.12:70686680:A:G
Gene:: UTP3 (Varview), LOC101927297 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.039584/5464 (ALFA)
G=0.016667/10 (NorthernSweden)
G=0.022098/99 (Estonian)
G=0.022928/26 (Daghestan)
G=0.026699/99 (TWINSUK)
G=0.028542/110 (ALSPAC)
G=0.034068/34 (GoNL)
G=0.062929/315 (1000Genomes)
G=0.065538/9188 (GnomAD)
G=0.066648/17641 (TOPMED)
G=0.097826/135 (HapMap)
G=0.12037/26 (Qatari)
A=0.472222/17 (SGDP_PRJ)
A=0.5/1 (Siberian)
HGVS:: NC_000004.12:g.70686681A>G, NC_000004.11:g.71552398A>G, XR_938860.3:n.362A>G, XR_938860.2:n.374A>G, XR_938860.1:n.343A>G

Select item 168453889.

rs16845388 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:70690240 (GRCh38)
4:71555957 (GRCh37)
Canonical SPDI:: NC_000004.12:70690239:G:A,NC_000004.12:70690239:G:T
Gene:: UTP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006597/121 (ALFA)
T=0.000035/1 (TOMMO)
T=0.006012/6 (GoNL)
T=0.00625/28 (Estonian)
T=0.007491/4 (MGP)
T=0.014019/3 (Vietnamese)
T=0.01453/56 (ALSPAC)
T=0.016667/10 (NorthernSweden)
T=0.019687/73 (TWINSUK)
T=0.025/1 (GENOME_DK)
T=0.029567/7826 (TOPMED)
T=0.032407/7 (Qatari)
T=0.033147/166 (1000Genomes)
G=0.45/9 (SGDP_PRJ)
T=0.452128/170 (HapMap)
G=0.5/2 (Siberian)
HGVS:: NC_000004.12:g.70690240G>A, NC_000004.12:g.70690240G>T, NC_000004.11:g.71555957G>A, NC_000004.11:g.71555957G>T, NM_020368.3:c.*123G>A, NM_020368.3:c.*123G>T, NM_020368.2:c.*123G>A, NM_020368.2:c.*123G>T

Select item 1684539010.

rs16845390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:70690244 (GRCh38)
4:71555961 (GRCh37)
Canonical SPDI:: NC_000004.12:70690243:G:C
Gene:: UTP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.045354/654 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
C=0.001002/1 (GoNL)
C=0.003745/2 (MGP)
C=0.061524/308 (1000Genomes)
C=0.063004/8685 (GnomAD)
C=0.066115/17500 (TOPMED)
C=0.07622/25 (HapMap)
C=0.078704/17 (Qatari)
G=0.461538/12 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70690244G>C, NC_000004.11:g.71555961G>C, NM_020368.3:c.*127G>C, NM_020368.2:c.*127G>C

Select item 1773536011.

rs17735360 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:70688529 (GRCh38)
4:71554246 (GRCh37)
Canonical SPDI:: NC_000004.12:70688528:T:C,NC_000004.12:70688528:T:G
Gene:: UTP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01132/205 (ALFA)
G=0.00375/2 (MGP)
G=0.00802/8 (GoNL)
G=0.01389/3 (Qatari)
G=0.015/9 (NorthernSweden)
G=0.0192/74 (ALSPAC)
G=0.02077/77 (TWINSUK)
G=0.03795/190 (1000Genomes)
G=0.04487/201 (Estonian)
T=0.44643/25 (SGDP_PRJ)
T=0.5/1 (Siberian)
HGVS:: NC_000004.12:g.70688529T>C, NC_000004.12:g.70688529T>G, NC_000004.11:g.71554246T>C, NC_000004.11:g.71554246T>G, NM_020368.2:c.-149T>C, NM_020368.2:c.-149T>G

Select item 2839336712.

rs28393367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:70687293 (GRCh38)
4:71553010 (GRCh37)
Canonical SPDI:: NC_000004.12:70687292:A:G,NC_000004.12:70687292:A:T
Gene:: UTP3 (Varview), LOC101927297 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000045/6 (GnomAD)
HGVS:: NC_000004.12:g.70687293A>G, NC_000004.12:g.70687293A>T, NC_000004.11:g.71553010A>G, NC_000004.11:g.71553010A>T

Select item 2848164813.

rs28481648 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:70687292 (GRCh38)
4:71553009 (GRCh37)
Canonical SPDI:: NC_000004.12:70687291:G:A
Gene:: UTP3 (Varview), LOC101927297 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002577/30 (ALFA)
A=0.000212/6 (TOMMO)
A=0.000232/30 (GnomAD)
A=0.00463/1 (Qatari)
A=0.008556/25 (KOREAN)
G=0.5/6 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70687292G>A, NC_000004.11:g.71553009G>A

Select item 2854063914.

rs28540639 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:70687369 (GRCh38)
4:71553086 (GRCh37)
Canonical SPDI:: NC_000004.12:70687368:A:T
Gene:: UTP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.045284/653 (ALFA)
T=0.061524/308 (1000Genomes)
T=0.062095/8678 (GnomAD)
T=0.066187/17519 (TOPMED)
T=0.078704/17 (Qatari)
A=0.461538/12 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70687369A>T, NC_000004.11:g.71553086A>T

Select item 2858049315.

rs28580493 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:70687415 (GRCh38)
4:71553132 (GRCh37)
Canonical SPDI:: NC_000004.12:70687414:G:A,NC_000004.12:70687414:G:C
Gene:: UTP3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002556/34 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
C=0.001002/1 (GoNL)
C=0.061524/308 (1000Genomes)
C=0.062176/8691 (GnomAD)
C=0.066172/17515 (TOPMED)
C=0.078704/17 (Qatari)
G=0.461538/12 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70687415G>A, NC_000004.12:g.70687415G>C, NC_000004.11:g.71553132G>A, NC_000004.11:g.71553132G>C

Select item 3416583016.

rs34165830 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:70688657 (GRCh38)
4:71554375 (GRCh37)
Canonical SPDI:: NC_000004.12:70688657:AAAA:AAAAA
Gene:: UTP3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
HGVS:: NC_000004.12:g.70688661dup, NC_000004.11:g.71554378dup, NM_020368.3:c.-17dup, NM_020368.2:c.-17dup

Select item 3527569917.

rs35275699 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:70690436 (GRCh38)
4:71556154 (GRCh37)
Canonical SPDI:: NC_000004.12:70690436:G:GG
Gene:: UTP3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000004.12:g.70690437dup, NC_000004.11:g.71556154dup, NM_020368.3:c.*320dup, NM_020368.2:c.*320dup

Select item 6110440218.

rs61104402 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGGAG>-,GAG,GAGGAGGAG,GAGGAGGAGGAG [Show Flanks]
Chromosome:: 4:70688987 (GRCh38)
4:71554704 (GRCh37)
Canonical SPDI:: NC_000004.12:70688973:GGAGGAGGAGGAGGAGGAG:GGAGGAGGAGGAG,NC_000004.12:70688973:GGAGGAGGAGGAGGAGGAG:GGAGGAGGAGGAGGAG,NC_000004.12:70688973:GGAGGAGGAGGAGGAGGAG:GGAGGAGGAGGAGGAGGAGGAG,NC_000004.12:70688973:GGAGGAGGAGGAGGAGGAG:GGAGGAGGAGGAGGAGGAGGAGGAG
Gene:: UTP3 (Varview)
Functional Consequence:: inframe_insertion,inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGAGGAGGAGGAGGAGGAGGAG=0.00004/1 (ALFA)
GGA=0.00012/2 (TOMMO)
-=0.00022/1 (Estonian)
-=0.00437/22 (1000Genomes)
HGVS:: NC_000004.12:g.70688975GAG[4], NC_000004.12:g.70688975GAG[5], NC_000004.12:g.70688975GAG[7], NC_000004.12:g.70688975GAG[8], NC_000004.11:g.71554692GAG[4], NC_000004.11:g.71554692GAG[5], NC_000004.11:g.71554692GAG[7], NC_000004.11:g.71554692GAG[8], NM_020368.3:c.298GAG[4], NM_020368.3:c.298GAG[5], NM_020368.3:c.298GAG[7], NM_020368.3:c.298GAG[8], NM_020368.2:c.298GAG[4], NM_020368.2:c.298GAG[5], NM_020368.2:c.298GAG[7], NM_020368.2:c.298GAG[8], NP_065101.1:p.Glu104_Glu105del, NP_065101.1:p.Glu105del, NP_065101.1:p.Glu105dup, NP_065101.1:p.Glu104_Glu105dup

Select item 7484668819.

rs74846688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:70690744 (GRCh38)
4:71556461 (GRCh37)
Canonical SPDI:: NC_000004.12:70690743:C:G
Gene:: UTP3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by cluster
HGVS:: NC_000004.12:g.70690744C>G, NC_000004.11:g.71556461C>G

Select item 7553061520.

rs75530615 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:70689153 (GRCh38)
4:71554870 (GRCh37)
Canonical SPDI:: NC_000004.12:70689152:G:A
Gene:: UTP3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001025/212 (ALFA)
A=0./0 (TWINSUK)
A=0.000259/1 (ALSPAC)
A=0.00225/565 (GnomAD_exomes)
A=0.002728/329 (ExAC)
A=0.00463/1 (Qatari)
A=0.008588/43 (1000Genomes)
A=0.009227/120 (GoESP)
A=0.00963/1347 (GnomAD)
A=0.010148/2686 (TOPMED)
A=0.014383/1132 (PAGE_STUDY)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000004.12:g.70689153G>A, NC_000004.11:g.71554870G>A, NM_020368.3:c.476G>A, NM_020368.2:c.476G>A, NP_065101.1:p.Arg159Lys

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