JMJD4 - SNP

Search results

Items: 1 to 20 of 3256

<< First< Prev

Page of 163

Next >Last >>

Select item 1503235831.

rs150323583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:227733552 (GRCh38)
1:227921253 (GRCh37)
Canonical SPDI:: NC_000001.11:227733551:G:A
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007879/389 (ALFA)
A=0.004685/23 (1000Genomes)
A=0.006147/1627 (TOPMED)
A=0.00692/90 (GoESP)
A=0.007491/4 (MGP)
A=0.008247/1157 (GnomAD)
A=0.008953/2152 (GnomAD_exomes)
A=0.009018/9 (GoNL)
A=0.009081/35 (ALSPAC)
A=0.009484/1116 (ExAC)
A=0.009978/37 (TWINSUK)
A=0.011384/51 (Estonian)
A=0.013423/4 (FINRISK)
A=0.045/27 (NorthernSweden)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000001.11:g.227733552G>A, NC_000001.10:g.227921253G>A, XM_011544262.4:c.684C>T, XM_011544262.3:c.822C>T, XM_011544262.2:c.822C>T, XM_011544262.1:c.822C>T, NM_023007.3:c.684C>T, NM_023007.2:c.822C>T, XM_017000232.2:c.-1858G>A, XM_017000232.1:c.-1858G>A, NM_001161465.2:c.684C>T, NM_001161465.1:c.822C>T, XM_047444119.1:c.-1858G>A, NR_024485.1:n.1575G>A, NR_024486.1:n.1412G>A

Select item 48372.

rs4837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227732656 (GRCh38)
1:227920357 (GRCh37)
Canonical SPDI:: NC_000001.11:227732655:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.108378/9624 (ALFA)
T=0.043463/127 (KOREAN)
T=0.045827/28 (Vietnamese)
T=0.045852/84 (Korea1K)
T=0.076159/23 (FINRISK)
T=0.08683/389 (Estonian)
T=0.091818/460 (1000Genomes)
T=0.093633/50 (MGP)
T=0.094188/94 (GoNL)
T=0.095628/23863 (GnomAD_exomes)
T=0.099224/11923 (ExAC)
T=0.101458/26855 (TOPMED)
T=0.105268/14754 (GnomAD)
T=0.108954/404 (TWINSUK)
T=0.109756/423 (ALSPAC)
T=0.111718/1453 (GoESP)
T=0.115/69 (NorthernSweden)
T=0.115063/1928 (TOMMO)
T=0.175/7 (GENOME_DK)
T=0.180556/39 (Qatari)
C=0.4375/49 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.227732656C>T, NC_000001.10:g.227920357C>T, XM_011544262.4:c.843G>A, XM_011544262.3:c.981G>A, XM_011544262.2:c.981G>A, XM_011544262.1:c.981G>A, NM_023007.3:c.990G>A, NM_023007.2:c.1128G>A, XM_017000232.2:c.-2754C>T, XM_017000232.1:c.-2754C>T, NM_001161465.2:c.942G>A, NM_001161465.1:c.1080G>A, XM_047444119.1:c.-2754C>T, NR_024485.1:n.679C>T, NR_024486.1:n.516C>T

Select item 7517473.

rs751747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227732517 (GRCh38)
1:227920218 (GRCh37)
Canonical SPDI:: NC_000001.11:227732516:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.005/3 (HapMap)
HGVS:: NC_000001.11:g.227732517C>T, NC_000001.10:g.227920218C>T, XM_011544262.4:c.982G>A, XM_011544262.3:c.1120G>A, XM_011544262.2:c.1120G>A, XM_011544262.1:c.1120G>A, NM_023007.3:c.1129G>A, NM_023007.2:c.1267G>A, XM_017000232.2:c.-2893C>T, XM_017000232.1:c.-2893C>T, NM_001161465.2:c.1081G>A, NM_001161465.1:c.1219G>A, XM_047444119.1:c.-2893C>T, NR_024485.1:n.540C>T, NR_024486.1:n.377C>T, XP_011542564.2:p.Glu328Lys, NP_075383.3:p.Glu377Lys, NP_001154937.2:p.Glu361Lys

Select item 7517484.

rs751748 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227732746 (GRCh38)
1:227920447 (GRCh37)
Canonical SPDI:: NC_000001.11:227732745:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.178251/27112 (ALFA)
T=0.111111/24 (Qatari)
T=0.12/72 (NorthernSweden)
T=0.143519/31 (Vietnamese)
T=0.157303/84 (MGP)
T=0.170629/23916 (GnomAD)
T=0.170745/321 (HapMap)
T=0.174266/873 (1000Genomes)
T=0.175/7 (GENOME_DK)
T=0.178182/47163 (TOPMED)
T=0.180073/694 (ALSPAC)
T=0.18096/671 (TWINSUK)
T=0.196393/196 (GoNL)
T=0.197991/887 (Estonian)
T=0.262811/4405 (TOMMO)
T=0.264041/771 (KOREAN)
T=0.271288/497 (Korea1K)
C=0.416667/5 (Siberian)
C=0.460674/82 (SGDP_PRJ)
HGVS:: NC_000001.11:g.227732746C>T, NC_000001.10:g.227920447C>T, XM_017000232.2:c.-2664C>T, XM_017000232.1:c.-2664C>T, XM_047444119.1:c.-2664C>T, NR_024485.1:n.769C>T, NR_024486.1:n.606C>T

Select item 10602955.

rs1060295 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:227732360 (GRCh38)
1:227920061 (GRCh37)
Canonical SPDI:: NC_000001.11:227732359:T:A,NC_000001.11:227732359:T:C,NC_000001.11:227732359:T:G
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
T=0.196089/371 (HapMap)
T=0.202308/3390 (TOMMO)
T=0.211694/105 (SGDP_PRJ)
T=0.215808/16947 (PAGE_STUDY)
T=0.230769/12 (Siberian)
T=0.243003/191 (PRJEB37584)
T=0.246721/1236 (1000Genomes)
T=0.2631/482 (Korea1K)
T=0.28125/117 (Vietnamese)
T=0.303506/80335 (TOPMED)
T=0.303743/633 (HGDP_Stanford)
T=0.317804/4127 (GoESP)
T=0.328704/71 (Qatari)
G=0.359551/192 (MGP)
T=0.365444/43455 (ExAC)
T=0.415625/1862 (Estonian)
T=0.428646/1652 (ALSPAC)
T=0.434466/1611 (TWINSUK)
T=0.444079/135 (FINRISK)
T=0.44489/444 (GoNL)
G=0.468085/44 (PRJEB36033)
G=0.49/294 (NorthernSweden)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000001.11:g.227732360T>A, NC_000001.11:g.227732360T>C, NC_000001.11:g.227732360T>G, NC_000001.10:g.227920061T>A, NC_000001.10:g.227920061T>C, NC_000001.10:g.227920061T>G, XM_011544262.4:c.*32A>T, XM_011544262.4:c.*32A>G, XM_011544262.4:c.*32A>C, XM_011544262.3:c.*32A>T, XM_011544262.3:c.*32A>G, XM_011544262.3:c.*32A>C, XM_011544262.2:c.*32A>T, XM_011544262.2:c.*32A>G, XM_011544262.2:c.*32A>C, XM_011544262.1:c.*32A>T, XM_011544262.1:c.*32A>G, XM_011544262.1:c.*32A>C, NM_023007.3:c.*32A>T, NM_023007.3:c.*32A>G, NM_023007.3:c.*32A>C, NM_023007.2:c.*32A>T, NM_023007.2:c.*32A>G, NM_023007.2:c.*32A>C, NM_001161465.2:c.*32A>T, NM_001161465.2:c.*32A>G, NM_001161465.2:c.*32A>C, NM_001161465.1:c.*32A>T, NM_001161465.1:c.*32A>G, NM_001161465.1:c.*32A>C, XM_047444119.1:c.-3050T>A, XM_047444119.1:c.-3050T>C, XM_047444119.1:c.-3050T>G

Select item 22739366.

rs2273936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:227733224 (GRCh38)
1:227920925 (GRCh37)
Canonical SPDI:: NC_000001.11:227733223:C:G
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.093731/1881 (ALFA)
G=0.001873/1 (MGP)
G=0.042808/125 (KOREAN)
G=0.045852/84 (Korea1K)
G=0.060748/13 (Vietnamese)
G=0.067926/340 (1000Genomes)
G=0.070664/132 (HapMap)
G=0.078212/20702 (TOPMED)
G=0.082968/11636 (GnomAD)
G=0.08683/389 (Estonian)
G=0.094188/94 (GoNL)
G=0.109223/405 (TWINSUK)
G=0.110016/424 (ALSPAC)
G=0.115/69 (NorthernSweden)
G=0.115091/1929 (TOMMO)
G=0.175/7 (GENOME_DK)
G=0.175926/38 (Qatari)
C=0.438776/43 (SGDP_PRJ)
C=0.5/3 (Siberian)
HGVS:: NC_000001.11:g.227733224C>G, NC_000001.10:g.227920925C>G, XM_017000232.2:c.-2186C>G, XM_017000232.1:c.-2186C>G, XM_047444119.1:c.-2186C>G, NR_024485.1:n.1247C>G, NR_024486.1:n.1084C>G

Select item 22739377.

rs2273937 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227732802 (GRCh38)
1:227920503 (GRCh37)
Canonical SPDI:: NC_000001.11:227732801:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000082/10 (ALFA)
T=0.000078/11 (GnomAD)
T=0.000083/22 (TOPMED)
T=0.000781/4 (1000Genomes)
T=0.002053/6 (KOREAN)
T=0.002183/4 (Korea1K)
T=0.012766/6 (HapMap)
T=0.036629/614 (TOMMO)
HGVS:: NC_000001.11:g.227732802C>T, NC_000001.10:g.227920503C>T, XM_017000232.2:c.-2608C>T, XM_017000232.1:c.-2608C>T, XM_047444119.1:c.-2608C>T, NR_024485.1:n.825C>T, NR_024486.1:n.662C>T

Select item 22739388.

rs2273938 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:227734939 (GRCh38)
1:227922640 (GRCh37)
Canonical SPDI:: NC_000001.11:227734938:T:C
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.072049/1361 (ALFA)
C=0.038839/174 (Estonian)
C=0.040992/152 (TWINSUK)
C=0.041667/25 (NorthernSweden)
C=0.04904/189 (ALSPAC)
C=0.075/3 (GENOME_DK)
C=0.091172/12780 (GnomAD)
C=0.106264/28127 (TOPMED)
C=0.156465/784 (1000Genomes)
C=0.157407/34 (Qatari)
C=0.266355/57 (Vietnamese)
C=0.310792/910 (KOREAN)
C=0.322951/5411 (TOMMO)
T=0.416667/5 (Siberian)
T=0.438889/79 (SGDP_PRJ)
HGVS:: NC_000001.11:g.227734939T>C, NC_000001.10:g.227922640T>C, XM_017000232.2:c.-471T>C, XM_017000232.1:c.-471T>C, XM_047444119.1:c.-471T>C

Select item 22959949.

rs2295994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:227735217 (GRCh38)
1:227922918 (GRCh37)
Canonical SPDI:: NC_000001.11:227735216:A:C,NC_000001.11:227735216:A:G
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.369972/15305 (ALFA)
C=0.25/10 (GENOME_DK)
C=0.263889/57 (Qatari)
C=0.3049/168 (Vietnamese)
C=0.328333/197 (NorthernSweden)
C=0.343752/5759 (TOMMO)
C=0.362269/1060 (KOREAN)
C=0.369786/656 (Korea1K)
C=0.379091/4587 (GoESP)
A=0.382353/13 (Siberian)
C=0.389571/127 (HapMap)
C=0.41152/1586 (ALSPAC)
C=0.414779/1538 (TWINSUK)
C=0.415335/2080 (1000Genomes)
C=0.419253/110972 (TOPMED)
A=0.421212/139 (SGDP_PRJ)
C=0.44933/2013 (Estonian)
C=0.463246/26834 (ExAC)
HGVS:: NC_000001.11:g.227735217A>C, NC_000001.11:g.227735217A>G, NC_000001.10:g.227922918A>C, NC_000001.10:g.227922918A>G, XM_011544262.4:c.57T>G, XM_011544262.4:c.57T>C, XM_011544262.3:c.195T>G, XM_011544262.3:c.195T>C, XM_011544262.2:c.195T>G, XM_011544262.2:c.195T>C, XM_011544262.1:c.195T>G, XM_011544262.1:c.195T>C, NM_023007.3:c.57T>G, NM_023007.3:c.57T>C, NM_023007.2:c.195T>G, NM_023007.2:c.195T>C, NM_053052.3:c.-193A>C, NM_053052.3:c.-193A>G, XM_017000232.2:c.-193A>C, XM_017000232.2:c.-193A>G, XM_017000232.1:c.-193A>C, XM_017000232.1:c.-193A>G, NM_001161465.2:c.57T>G, NM_001161465.2:c.57T>C, NM_001161465.1:c.195T>G, NM_001161465.1:c.195T>C, XM_047444119.1:c.-193A>C, XM_047444119.1:c.-193A>G, NM_001323935.1:c.-193A>C, NM_001323935.1:c.-193A>G, NR_136655.1:n.222A>C, NR_136655.1:n.222A>G, NM_001323931.1:c.-425A>C, NM_001323931.1:c.-425A>G, NR_136657.1:n.222A>C, NR_136657.1:n.222A>G, NR_136656.1:n.222A>C, NR_136656.1:n.222A>G, XP_011542564.2:p.Asp19Glu, NP_075383.3:p.Asp19Glu, NP_001154937.2:p.Asp19Glu

Select item 308790810.

rs3087908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:227732402 (GRCh38)
1:227920103 (GRCh37)
Canonical SPDI:: NC_000001.11:227732401:G:A
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: missense_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.180058/33632 (ALFA)
A=0.074906/40 (MGP)
A=0.111111/24 (Qatari)
A=0.12/72 (NorthernSweden)
A=0.126689/75 (Vietnamese)
A=0.13245/40 (FINRISK)
A=0.170671/23925 (GnomAD)
A=0.173708/20812 (ExAC)
A=0.174422/874 (1000Genomes)
A=0.174973/330 (HapMap)
A=0.175/7 (GENOME_DK)
A=0.175576/43853 (GnomAD_exomes)
A=0.175996/2289 (GoESP)
A=0.178182/47163 (TOPMED)
A=0.180073/694 (ALSPAC)
A=0.18096/671 (TWINSUK)
A=0.187028/14712 (PAGE_STUDY)
A=0.194389/194 (GoNL)
A=0.197768/886 (Estonian)
A=0.262741/4404 (TOMMO)
A=0.264726/773 (KOREAN)
A=0.271288/497 (Korea1K)
G=0.416667/5 (Siberian)
G=0.460674/82 (SGDP_PRJ)
HGVS:: NC_000001.11:g.227732402G>A, NC_000001.10:g.227920103G>A, XM_011544262.4:c.1097C>T, XM_011544262.3:c.1235C>T, XM_011544262.2:c.1235C>T, XM_011544262.1:c.1235C>T, NM_023007.3:c.1244C>T, NM_023007.2:c.1382C>T, XM_017000232.2:c.-3008G>A, XM_017000232.1:c.-3008G>A, NM_001161465.2:c.1196C>T, NM_001161465.1:c.1334C>T, XM_047444119.1:c.-3008G>A, NR_024485.1:n.425G>A, NR_024486.1:n.262G>A, XP_011542564.2:p.Ala366Val, NP_075383.3:p.Ala415Val, NP_001154937.2:p.Ala399Val

Select item 308838911.

rs3088389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:227731489 (GRCh38)
1:227919190 (GRCh37)
Canonical SPDI:: NC_000001.11:227731488:G:A
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.239888/18136 (ALFA)
A=0.075/3 (GENOME_DK)
A=0.081222/1361 (TOMMO)
A=0.097952/287 (KOREAN)
A=0.098253/180 (Korea1K)
A=0.189815/41 (Qatari)
A=0.208333/125 (NorthernSweden)
A=0.214429/214 (GoNL)
A=0.219626/47 (Vietnamese)
A=0.231707/893 (ALSPAC)
A=0.234358/869 (TWINSUK)
A=0.251786/1128 (Estonian)
A=0.274313/72608 (TOPMED)
A=0.27639/1384 (1000Genomes)
A=0.280072/39228 (GnomAD)
A=0.392157/80 (HapMap)
G=0.445055/81 (SGDP_PRJ)
G=0.461538/12 (Siberian)
HGVS:: NC_000001.11:g.227731489G>A, NC_000001.10:g.227919190G>A, XM_011544262.4:c.*903C>T, XM_011544262.3:c.*903C>T, XM_011544262.2:c.*903C>T, XM_011544262.1:c.*903C>T, NM_023007.3:c.*903C>T, NM_023007.2:c.*903C>T, NM_001161465.2:c.*903C>T, NM_001161465.1:c.*903C>T

Select item 455949812.

rs4559498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:227734585 (GRCh38)
1:227922286 (GRCh37)
Canonical SPDI:: NC_000001.11:227734584:G:A
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.227734585G>A, NC_000001.10:g.227922286G>A, XM_017000232.2:c.-825G>A, XM_017000232.1:c.-825G>A, XM_047444119.1:c.-825G>A

Select item 666430713.

rs6664307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227730861 (GRCh38)
1:227918562 (GRCh37)
Canonical SPDI:: NC_000001.11:227730860:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.237507/28289 (ALFA)
T=0.081151/1360 (TOMMO)
T=0.097952/287 (KOREAN)
T=0.098253/180 (Korea1K)
T=0.189815/41 (Qatari)
T=0.208333/125 (NorthernSweden)
T=0.214429/214 (GoNL)
T=0.226852/49 (Vietnamese)
T=0.231188/891 (ALSPAC)
T=0.234358/869 (TWINSUK)
T=0.251339/1126 (Estonian)
T=0.274332/72613 (TOPMED)
T=0.276546/1385 (1000Genomes)
T=0.280208/39247 (GnomAD)
T=0.296296/176 (HapMap)
C=0.445055/81 (SGDP_PRJ)
C=0.461538/12 (Siberian)
HGVS:: NC_000001.11:g.227730861C>T, NC_000001.10:g.227918562C>T

Select item 741923814.

rs7419238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:227735380 (GRCh38)
1:227923081 (GRCh37)
Canonical SPDI:: NC_000001.11:227735379:G:A,NC_000001.11:227735379:G:C
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000209/7 (ALFA)
G=0./0 (1000Genomes)
G=0./0 (ALSPAC)
G=0./0 (GENOME_DK)
G=0./0 (NorthernSweden)
G=0./0 (Qatari)
G=0./0 (SGDP_PRJ)
G=0./0 (Siberian)
G=0./0 (TOMMO)
G=0./0 (TWINSUK)
G=0.000083/1 (GoESP)
G=0.000178/25 (GnomAD)
G=0.000181/48 (TOPMED)
G=0.000342/1 (KOREAN)
G=0.000565/1 (Korea1K)
HGVS:: NC_000001.11:g.227735380G>A, NC_000001.11:g.227735380G>C, NC_000001.10:g.227923081G>A, NC_000001.10:g.227923081G>C, NM_053052.3:c.-30G>A, NM_053052.3:c.-30G>C, XM_017000232.2:c.-30G>A, XM_017000232.2:c.-30G>C, XM_017000232.1:c.-30G>A, XM_017000232.1:c.-30G>C, NM_023007.2:c.32C>T, NM_023007.2:c.32C>G, XM_047444119.1:c.-30G>A, XM_047444119.1:c.-30G>C, NM_001323935.1:c.-30G>A, NM_001323935.1:c.-30G>C, NM_001161465.1:c.32C>T, NM_001161465.1:c.32C>G, NR_136655.1:n.385G>A, NR_136655.1:n.385G>C, NM_001323931.1:c.-262G>A, NM_001323931.1:c.-262G>C, NR_136657.1:n.385G>A, NR_136657.1:n.385G>C, NR_136656.1:n.385G>A, NR_136656.1:n.385G>C

Select item 1015718415.

rs10157184 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:227731601 (GRCh38)
1:227919302 (GRCh37)
Canonical SPDI:: NC_000001.11:227731600:G:A,NC_000001.11:227731600:G:C,NC_000001.11:227731600:G:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
HGVS:: NC_000001.11:g.227731601G>A, NC_000001.11:g.227731601G>C, NC_000001.11:g.227731601G>T, NC_000001.10:g.227919302G>A, NC_000001.10:g.227919302G>C, NC_000001.10:g.227919302G>T, XM_011544262.4:c.*791C>T, XM_011544262.4:c.*791C>G, XM_011544262.4:c.*791C>A, XM_011544262.3:c.*791C>T, XM_011544262.3:c.*791C>G, XM_011544262.3:c.*791C>A, XM_011544262.2:c.*791C>T, XM_011544262.2:c.*791C>G, XM_011544262.2:c.*791C>A, XM_011544262.1:c.*791C>T, XM_011544262.1:c.*791C>G, XM_011544262.1:c.*791C>A, NM_023007.3:c.*791C>T, NM_023007.3:c.*791C>G, NM_023007.3:c.*791C>A, NM_023007.2:c.*791C>T, NM_023007.2:c.*791C>G, NM_023007.2:c.*791C>A, NM_001161465.2:c.*791C>T, NM_001161465.2:c.*791C>G, NM_001161465.2:c.*791C>A, NM_001161465.1:c.*791C>T, NM_001161465.1:c.*791C>G, NM_001161465.1:c.*791C>A, NM_001323933.2:c.-192G>A, NM_001323933.2:c.-192G>C, NM_001323933.2:c.-192G>T, NM_001323933.1:c.-192G>A, NM_001323933.1:c.-192G>C, NM_001323933.1:c.-192G>T, NM_001323932.2:c.-192G>A, NM_001323932.2:c.-192G>C, NM_001323932.2:c.-192G>T, NM_001323932.1:c.-192G>A, NM_001323932.1:c.-192G>C, NM_001323932.1:c.-192G>T, XM_047444119.1:c.-3809G>A, XM_047444119.1:c.-3809G>C, XM_047444119.1:c.-3809G>T, NR_024485.1:n.265G>A, NR_024485.1:n.265G>C, NR_024485.1:n.265G>T

Select item 1180402016.

rs11804020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227734095 (GRCh38)
1:227921796 (GRCh37)
Canonical SPDI:: NC_000001.11:227734094:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.013056/613 (ALFA)
T=0./0 (HapMap)
T=0.003333/2 (NorthernSweden)
T=0.006473/29 (Estonian)
T=0.007808/39 (1000Genomes)
T=0.0111/1556 (GnomAD)
T=0.011485/3040 (TOPMED)
T=0.014028/14 (GoNL)
T=0.014981/8 (MGP)
T=0.015372/57 (TWINSUK)
T=0.018422/71 (ALSPAC)
T=0.018519/4 (Qatari)
T=0.025/1 (GENOME_DK)
C=0.5/1 (Siberian)
C=0.5/5 (SGDP_PRJ)
HGVS:: NC_000001.11:g.227734095C>T, NC_000001.10:g.227921796C>T, XM_017000232.2:c.-1315C>T, XM_017000232.1:c.-1315C>T, XM_047444119.1:c.-1315C>T, NR_024485.1:n.2118C>T, NR_024486.1:n.1955C>T

Select item 1203194317.

rs12031943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:227734023 (GRCh38)
1:227921724 (GRCh37)
Canonical SPDI:: NC_000001.11:227734022:C:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000178/25 (GnomAD)
T=0.000238/63 (TOPMED)
T=0.000352/42 (ExAC)
T=0.000441/110 (GnomAD_exomes)
T=0.001203/20 (TOMMO)
T=0.001562/8 (1000Genomes)
T=0.003106/1 (HapMap)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000001.11:g.227734023C>T, NC_000001.10:g.227921724C>T, XM_011544262.4:c.438G>A, XM_011544262.3:c.576G>A, XM_011544262.2:c.576G>A, XM_011544262.1:c.576G>A, NM_023007.3:c.438G>A, NM_023007.2:c.576G>A, XM_017000232.2:c.-1387C>T, XM_017000232.1:c.-1387C>T, NM_001161465.2:c.438G>A, NM_001161465.1:c.576G>A, XM_047444119.1:c.-1387C>T, NR_024485.1:n.2046C>T, NR_024486.1:n.1883C>T

Select item 1204551518.

rs12045515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:227737042 (GRCh38)
1:227924743 (GRCh37)
Canonical SPDI:: NC_000001.11:227737041:G:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0068/9 (HapMap)
HGVS:: NC_000001.11:g.227737042G>T, NC_000001.10:g.227924743G>T

Select item 1204631119.

rs12046311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:227737228 (GRCh38)
1:227924929 (GRCh37)
Canonical SPDI:: NC_000001.11:227737227:G:A
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000001.11:g.227737228G>A, NC_000001.10:g.227924929G>A

Select item 1240969820.

rs12409698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:227736252 (GRCh38)
1:227923953 (GRCh37)
Canonical SPDI:: NC_000001.11:227736251:G:T
Gene:: JMJD4 (Varview), SNAP47 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.003/1 (HapMap)
HGVS:: NC_000001.11:g.227736252G>T, NC_000001.10:g.227923953G>T, XM_006711734.3:c.-233G>T, XM_006711734.2:c.-233G>T, XM_006711734.1:c.-233G>T

<< First< Prev

Page of 163

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 3256

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity