HOXA1 - SNP

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Select item 20743981.

rs2074398 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:27095700 (GRCh38)
7:27135319 (GRCh37)
Canonical SPDI:: NC_000007.14:27095699:G:A
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.022152/460 (ALFA)
A=0.00057/10 (TOMMO)
A=0.011301/33 (KOREAN)
A=0.018097/81 (Estonian)
A=0.02428/3361 (GnomAD)
A=0.024345/13 (MGP)
A=0.030202/6222 (GnomAD_exomes)
A=0.033445/20 (NorthernSweden)
A=0.038792/4366 (ExAC)
A=0.078704/17 (Qatari)
A=0.15/6 (GENOME_DK)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000007.14:g.27095700G>A, NC_000007.13:g.27135319G>A, NG_033087.1:g.4607G>A, NM_005522.5:c.213C>T, NM_005522.4:c.213C>T, NM_153620.3:c.213C>T, NM_153620.2:c.213C>T, NG_011813.1:g.5307C>T

Select item 77865542.

rs7786554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:27093350 (GRCh38)
7:27132969 (GRCh37)
Canonical SPDI:: NC_000007.14:27093349:G:A
Gene:: HOXA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002962/385 (ALFA)
A=0.001618/6 (TWINSUK)
A=0.001873/1 (MGP)
A=0.002004/2 (GoNL)
A=0.002232/10 (Estonian)
A=0.002335/9 (ALSPAC)
A=0.006169/1633 (TOPMED)
A=0.0062/869 (GnomAD)
A=0.00812/41 (1000Genomes)
A=0.009485/7 (HapMap)
A=0.025/1 (GENOME_DK)
A=0.062615/68 (Daghestan)
HGVS:: NC_000007.14:g.27093350G>A, NC_000007.13:g.27132969G>A, NG_033087.1:g.2257G>A, NM_005522.5:c.*1090C>T, NM_005522.4:c.*1090C>T, NM_153620.3:c.*1481C>T, NM_153620.2:c.*1481C>T, NG_011813.1:g.7657C>T

Select item 109511543.

rs10951154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 7:27095695 (GRCh38)
7:27135314 (GRCh37)
Canonical SPDI:: NC_000007.14:27095694:C:A,NC_000007.14:27095694:C:G,NC_000007.14:27095694:C:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.001026/3 (KOREAN)
C=0.002525/2 (PRJEB37584)
C=0.017857/1 (Siberian)
C=0.020881/350 (TOMMO)
C=0.092453/49 (SGDP_PRJ)
C=0.126679/264 (HGDP_Stanford)
C=0.130435/78 (NorthernSweden)
C=0.134259/29 (Qatari)
C=0.142709/550 (ALSPAC)
C=0.148328/550 (TWINSUK)
C=0.182451/813 (Estonian)
C=0.219249/1098 (1000Genomes)
C=0.234003/26887 (ExAC)
C=0.243104/55700 (GnomAD_exomes)
C=0.269366/459 (HapMap)
C=0.269568/3506 (GoESP)
C=0.273259/37724 (GnomAD)
C=0.279565/73998 (TOPMED)
C=0.297473/23263 (PAGE_STUDY)
C=0.3/12 (GENOME_DK)
C=0.318182/14 (PRJEB36033)
C=0.340824/182 (MGP)
HGVS:: NC_000007.14:g.27095695C>A, NC_000007.14:g.27095695C>G, NC_000007.14:g.27095695C>T, NC_000007.13:g.27135314C>A, NC_000007.13:g.27135314C>G, NC_000007.13:g.27135314C>T, NG_033087.1:g.4602T>C, NG_033087.1:g.4602T>A, NG_033087.1:g.4602T>G, NM_005522.5:c.218G>T, NM_005522.5:c.218G>C, NM_005522.5:c.218G>A, NM_005522.4:c.218A>G, NM_005522.4:c.218A>T, NM_005522.4:c.218A>C, NM_153620.3:c.218G>T, NM_153620.3:c.218G>C, NM_153620.3:c.218G>A, NM_153620.2:c.218A>G, NM_153620.2:c.218A>T, NM_153620.2:c.218A>C, NG_011813.1:g.5312A>G, NG_011813.1:g.5312A>T, NG_011813.1:g.5312A>C, NP_005513.2:p.Arg73Leu, NP_005513.2:p.Arg73Pro, NP_005513.2:p.Arg73His, NP_705873.3:p.Arg73Leu, NP_705873.3:p.Arg73Pro, NP_705873.3:p.Arg73His

PubMed LitVar

Select item 175004944.

rs17500494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:27095347 (GRCh38)
7:27134966 (GRCh37)
Canonical SPDI:: NC_000007.14:27095346:T:G
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Clinical significance:: benign,likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000576/117 (ALFA)
G=0.000867/218 (GnomAD_exomes)
G=0.00103/125 (ExAC)
G=0.001873/1 (MGP)
G=0.002537/33 (GoESP)
G=0.0034/476 (GnomAD)
G=0.003563/943 (TOPMED)
G=0.004841/24 (1000Genomes)
G=0.005109/402 (PAGE_STUDY)
G=0.017699/4 (HapMap)
HGVS:: NC_000007.14:g.27095347T>G, NC_000007.13:g.27134966T>G, NG_033087.1:g.4254T>G, NM_005522.5:c.566A>C, NM_005522.4:c.566A>C, NM_153620.3:c.363A>C, NM_153620.2:c.363A>C, NG_011813.1:g.5660A>C, NP_005513.2:p.Glu189Ala, NP_705873.3:p.Arg121Ser

LitVar

Select item 344621265.

rs34462126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:27094764 (GRCh38)
7:27134383 (GRCh37)
Canonical SPDI:: NC_000007.14:27094763:T:C
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000586/21 (ALFA)
C=0.000481/121 (GnomAD_exomes)
C=0.000626/76 (ExAC)
C=0.001692/22 (GoESP)
C=0.001748/245 (GnomAD)
C=0.001829/484 (TOPMED)
C=0.001873/1 (MGP)
C=0.00203/10 (1000Genomes)
C=0.00463/1 (Qatari)
HGVS:: NC_000007.14:g.27094764T>C, NC_000007.13:g.27134383T>C, NG_033087.1:g.3671T>C, NM_005522.5:c.684A>G, NM_005522.4:c.684A>G, NM_153620.3:c.*67A>G, NM_153620.2:c.*67A>G, NG_011813.1:g.6243A>G

Select item 455716456.

rs45571645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:27095477 (GRCh38)
7:27135096 (GRCh37)
Canonical SPDI:: NC_000007.14:27095476:G:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,intron_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.01632/3398 (ALFA)
T=0./0 (KOREAN)
T=0.001092/2 (Korea1K)
T=0.004803/378 (PAGE_STUDY)
T=0.005309/27 (1000Genomes)
T=0.010306/2728 (TOPMED)
T=0.013782/1673 (ExAC)
T=0.014147/184 (GoESP)
T=0.014393/3612 (GnomAD_exomes)
T=0.014869/2085 (GnomAD)
T=0.014981/8 (MGP)
T=0.017034/17 (GoNL)
T=0.01726/64 (TWINSUK)
T=0.01942/87 (Estonian)
T=0.025428/98 (ALSPAC)
T=0.028333/17 (NorthernSweden)
T=0.039474/12 (FINRISK)
G=0.333333/2 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000007.14:g.27095477G>T, NC_000007.13:g.27135096G>T, NG_033087.1:g.4384G>T, NM_005522.5:c.436C>A, NM_005522.4:c.436C>A, NG_011813.1:g.5530C>A, NP_005513.2:p.His146Asn

Select item 560128167.

rs56012816 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:27094384 (GRCh38)
7:27134003 (GRCh37)
Canonical SPDI:: NC_000007.14:27094383:G:A,NC_000007.14:27094383:G:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.079504/1730 (ALFA)
T=0.000342/1 (KOREAN)
T=0.039038/196 (1000Genomes)
T=0.064815/14 (Qatari)
T=0.066448/17588 (TOPMED)
T=0.072444/10159 (GnomAD)
T=0.093633/50 (MGP)
T=0.108259/485 (Estonian)
T=0.113333/68 (NorthernSweden)
T=0.11523/115 (GoNL)
T=0.15/6 (GENOME_DK)
G=0.444444/16 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000007.14:g.27094384G>A, NC_000007.14:g.27094384G>T, NC_000007.13:g.27134003G>A, NC_000007.13:g.27134003G>T, NG_033087.1:g.3291G>A, NG_033087.1:g.3291G>T, NM_005522.5:c.*56C>T, NM_005522.5:c.*56C>A, NM_005522.4:c.*56C>T, NM_005522.4:c.*56C>A, NM_153620.3:c.*447C>T, NM_153620.3:c.*447C>A, NM_153620.2:c.*447C>T, NM_153620.2:c.*447C>A, NG_011813.1:g.6623C>T, NG_011813.1:g.6623C>A

Select item 736835928.

rs73683592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:27093970 (GRCh38)
7:27133589 (GRCh37)
Canonical SPDI:: NC_000007.14:27093969:A:T
Gene:: HOXA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005347/101 (ALFA)
T=0.000223/1 (Estonian)
T=0.001873/1 (MGP)
T=0.009839/1380 (GnomAD)
T=0.010265/2717 (TOPMED)
T=0.012336/62 (1000Genomes)
T=0.018519/4 (Qatari)
A=0.5/9 (SGDP_PRJ)
HGVS:: NC_000007.14:g.27093970A>T, NC_000007.13:g.27133589A>T, NG_033087.1:g.2877A>T, NM_005522.5:c.*470T>A, NM_005522.4:c.*470T>A, NM_153620.3:c.*861T>A, NM_153620.2:c.*861T>A, NG_011813.1:g.7037T>A

Select item 744584269.

rs74458426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:27095019 (GRCh38)
7:27134638 (GRCh37)
Canonical SPDI:: NC_000007.14:27095018:C:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.060561/1144 (ALFA)
T=0.032407/7 (Qatari)
T=0.045577/169 (TWINSUK)
T=0.045684/12092 (TOPMED)
T=0.046186/178 (ALSPAC)
T=0.046257/6480 (GnomAD)
T=0.054108/54 (GoNL)
T=0.075/3 (GENOME_DK)
T=0.077764/389 (1000Genomes)
T=0.093333/56 (NorthernSweden)
T=0.111607/500 (Estonian)
T=0.202668/3396 (TOMMO)
T=0.271288/497 (Korea1K)
T=0.280546/822 (KOREAN)
T=0.330189/70 (Vietnamese)
C=0.40566/43 (SGDP_PRJ)
C=0.4375/7 (Siberian)
HGVS:: NC_000007.14:g.27095019C>T, NC_000007.13:g.27134638C>T, NG_033087.1:g.3926C>T, NG_011813.1:g.5988G>A

Select item 7682610010.

rs76826100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:27093533 (GRCh38)
7:27133152 (GRCh37)
Canonical SPDI:: NC_000007.14:27093532:T:C
Gene:: HOXA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001563/23 (ALFA)
C=0./0 (TWINSUK)
C=0.000259/1 (ALSPAC)
C=0.002388/335 (GnomAD)
C=0.003344/885 (TOPMED)
C=0.01827/91 (1000Genomes)
C=0.031659/58 (Korea1K)
C=0.032082/94 (KOREAN)
C=0.060185/13 (Vietnamese)
C=0.072192/1210 (TOMMO)
T=0.5/4 (SGDP_PRJ)
HGVS:: NC_000007.14:g.27093533T>C, NC_000007.13:g.27133152T>C, NG_033087.1:g.2440T>C, NM_005522.5:c.*907A>G, NM_005522.4:c.*907A>G, NM_153620.3:c.*1298A>G, NM_153620.2:c.*1298A>G, NG_011813.1:g.7474A>G

Select item 7783245211.

rs77832452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:27095739 (GRCh38)
7:27135358 (GRCh37)
Canonical SPDI:: NC_000007.14:27095738:C:G,NC_000007.14:27095738:C:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000628/28 (ALFA)
G=0.001182/293 (GnomAD_exomes)
G=0.001513/181 (ExAC)
G=0.004461/58 (GoESP)
G=0.00476/667 (GnomAD)
G=0.005108/1352 (TOPMED)
G=0.005778/29 (1000Genomes)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.27095739C>G, NC_000007.14:g.27095739C>T, NC_000007.13:g.27135358C>G, NC_000007.13:g.27135358C>T, NG_033087.1:g.4646C>G, NG_033087.1:g.4646C>T, NM_005522.5:c.174G>C, NM_005522.5:c.174G>A, NM_005522.4:c.174G>C, NM_005522.4:c.174G>A, NM_153620.3:c.174G>C, NM_153620.3:c.174G>A, NM_153620.2:c.174G>C, NM_153620.2:c.174G>A, NG_011813.1:g.5268G>C, NG_011813.1:g.5268G>A

Select item 10489401712.

rs104894017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:27095829 (GRCh38)
7:27135448 (GRCh37)
Canonical SPDI:: NC_000007.14:27095828:G:A,NC_000007.14:27095828:G:C
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,stop_gained,synonymous_variant
Clinical significance:: pathogenic
Validated:: by cluster
HGVS:: NC_000007.14:g.27095829G>A, NC_000007.14:g.27095829G>C, NC_000007.13:g.27135448G>A, NC_000007.13:g.27135448G>C, NG_033087.1:g.4736G>A, NG_033087.1:g.4736G>C, NM_005522.5:c.84C>T, NM_005522.5:c.84C>G, NM_005522.4:c.84C>T, NM_005522.4:c.84C>G, NM_153620.3:c.84C>T, NM_153620.3:c.84C>G, NM_153620.2:c.84C>T, NM_153620.2:c.84C>G, NG_011813.1:g.5178C>T, NG_011813.1:g.5178C>G, NP_005513.2:p.Tyr28Ter, NP_705873.3:p.Tyr28Ter

Select item 10489401813.

rs104894018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:27095837 (GRCh38)
7:27135456 (GRCh37)
Canonical SPDI:: NC_000007.14:27095836:G:A,NC_000007.14:27095836:G:C
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,stop_gained,missense_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000067/3 (ALFA)
C=0.000024/6 (GnomAD_exomes)
C=0.000025/3 (ExAC)
HGVS:: NC_000007.14:g.27095837G>A, NC_000007.14:g.27095837G>C, NC_000007.13:g.27135456G>A, NC_000007.13:g.27135456G>C, NG_033087.1:g.4744G>A, NG_033087.1:g.4744G>C, NM_005522.5:c.76C>T, NM_005522.5:c.76C>G, NM_005522.4:c.76C>T, NM_005522.4:c.76C>G, NM_153620.3:c.76C>T, NM_153620.3:c.76C>G, NM_153620.2:c.76C>T, NM_153620.2:c.76C>G, NG_011813.1:g.5170C>T, NG_011813.1:g.5170C>G, NP_005513.2:p.Arg26Ter, NP_005513.2:p.Arg26Gly, NP_705873.3:p.Arg26Ter, NP_705873.3:p.Arg26Gly

Select item 11479682714.

rs114796827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:27093095 (GRCh38)
7:27132714 (GRCh37)
Canonical SPDI:: NC_000007.14:27093094:A:G
Gene:: HOXA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.006813/149 (ALFA)
G=0.000446/2 (Estonian)
G=0.000539/2 (TWINSUK)
G=0.000778/3 (ALSPAC)
G=0.002004/2 (GoNL)
G=0.006667/4 (NorthernSweden)
G=0.006715/34 (1000Genomes)
G=0.007491/4 (MGP)
G=0.007814/1096 (GnomAD)
G=0.008187/2167 (TOPMED)
G=0.013889/3 (Qatari)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000007.14:g.27093095A>G, NC_000007.13:g.27132714A>G, NG_033087.1:g.2002A>G, NM_005522.5:c.*1345T>C, NM_005522.4:c.*1345T>C, NM_153620.3:c.*1736T>C, NM_153620.2:c.*1736T>C, NG_011813.1:g.7912T>C

Select item 11701140415.

rs117011404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:27093877 (GRCh38)
7:27133496 (GRCh37)
Canonical SPDI:: NC_000007.14:27093876:C:G
Gene:: HOXA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.005506/104 (ALFA)
G=0.002811/14 (1000Genomes)
G=0.003795/17 (Estonian)
G=0.004934/1306 (TOPMED)
G=0.005021/704 (GnomAD)
G=0.006746/26 (ALSPAC)
G=0.01002/10 (GoNL)
G=0.011057/41 (TWINSUK)
G=0.016667/10 (NorthernSweden)
G=0.024345/13 (MGP)
HGVS:: NC_000007.14:g.27093877C>G, NC_000007.13:g.27133496C>G, NG_033087.1:g.2784C>G, NM_005522.5:c.*563G>C, NM_005522.4:c.*563G>C, NM_153620.3:c.*954G>C, NM_153620.2:c.*954G>C, NG_011813.1:g.7130G>C

Select item 14359716516.

rs143597165 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:27094707 (GRCh38)
7:27134326 (GRCh37)
Canonical SPDI:: NC_000007.14:27094706:C:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000563/25 (ALFA)
T=0.000154/2 (GoESP)
T=0.000181/22 (ExAC)
T=0.000294/74 (GnomAD_exomes)
T=0.000328/46 (GnomAD)
T=0.000344/91 (TOPMED)
HGVS:: NC_000007.14:g.27094707C>T, NC_000007.13:g.27134326C>T, NG_033087.1:g.3614C>T, NM_005522.5:c.741G>A, NM_005522.4:c.741G>A, NM_153620.3:c.*124G>A, NM_153620.2:c.*124G>A, NG_011813.1:g.6300G>A

Select item 14428873917.

rs144288739 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:27095762 (GRCh38)
7:27135381 (GRCh37)
Canonical SPDI:: NC_000007.14:27095761:C:G
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/6 (ALFA)
G=0.000057/14 (GnomAD_exomes)
G=0.000071/10 (GnomAD)
G=0.000075/9 (ExAC)
G=0.000083/22 (TOPMED)
G=0.000231/3 (GoESP)
HGVS:: NC_000007.14:g.27095762C>G, NC_000007.13:g.27135381C>G, NG_033087.1:g.4669C>G, NM_005522.5:c.151G>C, NM_005522.4:c.151G>C, NM_153620.3:c.151G>C, NM_153620.2:c.151G>C, NG_011813.1:g.5245G>C, NP_005513.2:p.Asp51His, NP_705873.3:p.Asp51His

Select item 14510262518.

rs145102625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:27094259 (GRCh38)
7:27133878 (GRCh37)
Canonical SPDI:: NC_000007.14:27094258:C:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.005524/106 (ALFA)
T=0.002811/14 (1000Genomes)
T=0.003795/17 (Estonian)
T=0.004953/1311 (TOPMED)
T=0.005063/710 (GnomAD)
T=0.007006/27 (ALSPAC)
T=0.007491/4 (MGP)
T=0.01002/10 (GoNL)
T=0.010787/40 (TWINSUK)
T=0.016667/10 (NorthernSweden)
HGVS:: NC_000007.14:g.27094259C>T, NC_000007.13:g.27133878C>T, NG_033087.1:g.3166C>T, NM_005522.5:c.*181G>A, NM_005522.4:c.*181G>A, NM_153620.3:c.*572G>A, NM_153620.2:c.*572G>A, NG_011813.1:g.6748G>A

Select item 14678265019.

rs146782650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:27095719 (GRCh38)
7:27135338 (GRCh37)
Canonical SPDI:: NC_000007.14:27095718:T:G
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000596/29 (ALFA)
G=0.000308/4 (GoESP)
G=0.000336/89 (TOPMED)
G=0.000387/46 (ExAC)
G=0.000395/55 (GnomAD)
G=0.000439/108 (GnomAD_exomes)
G=0.000468/3 (1000Genomes)
G=0.001116/5 (Estonian)
HGVS:: NC_000007.14:g.27095719T>G, NC_000007.13:g.27135338T>G, NG_033087.1:g.4626T>G, NM_005522.5:c.194A>C, NM_005522.4:c.194A>C, NM_153620.3:c.194A>C, NM_153620.2:c.194A>C, NG_011813.1:g.5288A>C, NP_005513.2:p.His65Pro, NP_705873.3:p.His65Pro

Select item 15054092120.

rs150540921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:27095351 (GRCh38)
7:27134970 (GRCh37)
Canonical SPDI:: NC_000007.14:27095350:G:T
Gene:: HOXA1 (Varview), HOTAIRM1 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/10 (ALFA)
T=0.000077/1 (GoESP)
T=0.000107/13 (ExAC)
T=0.000119/30 (GnomAD_exomes)
T=0.00014/37 (TOPMED)
T=0.000143/20 (GnomAD)
T=0.000254/20 (PAGE_STUDY)
T=0.000312/2 (1000Genomes)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.27095351G>T, NC_000007.13:g.27134970G>T, NG_033087.1:g.4258G>T, NM_005522.5:c.562C>A, NM_005522.4:c.562C>A, NM_153620.3:c.359C>A, NM_153620.2:c.359C>A, NG_011813.1:g.5656C>A, NP_005513.2:p.Gln188Lys, NP_705873.3:p.Pro120Gln

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