RNF114 - SNP

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Select item 127101.

rs12710 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:49953701 (GRCh38)
20:48570238 (GRCh37)
Canonical SPDI:: NC_000020.11:49953700:C:T
Gene:: RNF114 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000763/11 (ALFA)
T=0.000156/1 (1000Genomes)
T=0.000519/2 (ALSPAC)
T=0.000635/89 (GnomAD)
T=0.000752/199 (TOPMED)
T=0.000809/3 (TWINSUK)
T=0.001002/1 (GoNL)
T=0.009259/2 (Qatari)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.49953701C>T, NC_000020.10:g.48570238C>T, NM_018683.4:c.*1560C>T, NM_018683.3:c.*1560C>T

Select item 10066822.

rs1006682 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 20:49954076 (GRCh38)
20:48570613 (GRCh37)
Canonical SPDI:: NC_000020.11:49954075:T:C,NC_000020.11:49954075:T:G
Gene:: RNF114 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002934/97 (ALFA)
C=0.005657/793 (GnomAD)
C=0.005909/1564 (TOPMED)
C=0.006061/2 (HapMap)
C=0.006715/34 (1000Genomes)
HGVS:: NC_000020.11:g.49954076T>C, NC_000020.11:g.49954076T>G, NC_000020.10:g.48570613T>C, NC_000020.10:g.48570613T>G

Select item 10561983.

rs1056198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:49939692 (GRCh38)
20:48556229 (GRCh37)
Canonical SPDI:: NC_000020.11:49939691:C:T
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.41282/29349 (ALFA)
T=0.273585/58 (Vietnamese)
T=0.282051/22 (PRJEB36033)
T=0.291226/551 (HapMap)
C=0.309524/13 (Siberian)
T=0.324092/85784 (TOPMED)
C=0.32659/113 (SGDP_PRJ)
T=0.327304/959 (KOREAN)
T=0.328603/602 (Korea1K)
T=0.337309/5653 (TOMMO)
T=0.339264/47267 (GnomAD)
T=0.352748/1767 (1000Genomes)
T=0.393519/85 (Qatari)
T=0.40739/849 (HGDP_Stanford)
T=0.419094/1554 (TWINSUK)
T=0.422159/1627 (ALSPAC)
T=0.423848/423 (GoNL)
T=0.475/19 (GENOME_DK)
C=0.489504/2192 (Estonian)
T=0.491667/295 (NorthernSweden)
HGVS:: NC_000020.11:g.49939692C>T, NC_000020.10:g.48556229C>T, NG_080965.1:g.401C>T

PubMed LitVar

Select item 10562004.

rs1056200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:49939711 (GRCh38)
20:48556248 (GRCh37)
Canonical SPDI:: NC_000020.11:49939710:A:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.451108/19007 (ALFA)
A=0.155531/2606 (TOMMO)
A=0.181769/333 (Korea1K)
A=0.187031/548 (KOREAN)
A=0.1875/9 (Siberian)
A=0.238426/103 (SGDP_PRJ)
A=0.314286/66 (Vietnamese)
G=0.40382/106887 (TOPMED)
G=0.406077/56469 (GnomAD)
A=0.431859/1933 (Estonian)
G=0.463636/153 (HapMap)
G=0.467593/101 (Qatari)
A=0.471572/282 (NorthernSweden)
G=0.472946/472 (GoNL)
G=0.474053/1827 (ALSPAC)
G=0.475728/1764 (TWINSUK)
G=0.480637/2407 (1000Genomes)
A=0.5/20 (GENOME_DK)
HGVS:: NC_000020.11:g.49939711A>G, NC_000020.10:g.48556248A>G, NG_080965.1:g.420A>G

Select item 11074115.

rs1107411 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:49948392 (GRCh38)
20:48564929 (GRCh37)
Canonical SPDI:: NC_000020.11:49948391:C:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001376/26 (ALFA)
G=0.000223/1 (Estonian)
G=0.0024/335 (GnomAD)
G=0.004016/1063 (TOPMED)
G=0.013117/66 (1000Genomes)
G=0.044363/743 (TOMMO)
G=0.057837/169 (KOREAN)
C=0.428571/12 (SGDP_PRJ)
HGVS:: NC_000020.11:g.49948392C>G, NC_000020.10:g.48564929C>G

Select item 20381276.

rs2038127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 20:49938133 (GRCh38)
20:48554670 (GRCh37)
Canonical SPDI:: NC_000020.11:49938132:A:C,NC_000020.11:49938132:A:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.278693/84120 (ALFA)
G=0.039104/655 (TOMMO)
G=0.043121/126 (KOREAN)
G=0.06962/55 (PRJEB37584)
G=0.084906/18 (Vietnamese)
G=0.169492/320 (HapMap)
G=0.172392/863 (1000Genomes)
G=0.173704/362 (HGDP_Stanford)
G=0.177531/13971 (PAGE_STUDY)
G=0.212963/46 (Qatari)
G=0.224777/1007 (Estonian)
G=0.237289/62808 (TOPMED)
G=0.240762/33724 (GnomAD)
G=0.25/10 (GENOME_DK)
G=0.283333/170 (NorthernSweden)
G=0.285059/1057 (TWINSUK)
G=0.28931/1115 (ALSPAC)
G=0.307615/307 (GoNL)
A=0.363636/8 (PRJEB36033)
A=0.4/4 (Siberian)
A=0.42/63 (SGDP_PRJ)
HGVS:: NC_000020.11:g.49938133A>C, NC_000020.11:g.49938133A>G, NC_000020.10:g.48554670A>C, NC_000020.10:g.48554670A>G

PubMed

Select item 20569917.

rs2056991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49944743 (GRCh38)
20:48561280 (GRCh37)
Canonical SPDI:: NC_000020.11:49944742:T:C
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.3937/7437 (ALFA)
C=0.294393/63 (Vietnamese)
T=0.309524/13 (Siberian)
C=0.324213/85816 (TOPMED)
T=0.32659/113 (SGDP_PRJ)
C=0.328603/602 (Korea1K)
C=0.329352/965 (KOREAN)
C=0.337497/5656 (TOMMO)
C=0.340936/47697 (GnomAD)
C=0.347222/75 (Qatari)
C=0.353217/1769 (1000Genomes)
C=0.421791/1564 (TWINSUK)
C=0.42485/424 (GoNL)
C=0.425272/1639 (ALSPAC)
C=0.475/19 (GENOME_DK)
T=0.487054/2182 (Estonian)
C=0.493333/296 (NorthernSweden)
HGVS:: NC_000020.11:g.49944743T>C, NC_000020.10:g.48561280T>C

Select item 22356168.

rs2235616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:49952590 (GRCh38)
20:48569127 (GRCh37)
Canonical SPDI:: NC_000020.11:49952589:G:A,NC_000020.11:49952589:G:C
Gene:: RNF114 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.399362/59675 (ALFA)
A=0.278302/59 (Vietnamese)
A=0.296908/557 (HapMap)
G=0.309524/13 (Siberian)
A=0.314607/168 (MGP)
A=0.324198/85812 (TOPMED)
G=0.32659/113 (SGDP_PRJ)
A=0.327986/961 (KOREAN)
A=0.328057/601 (Korea1K)
A=0.333333/26 (PRJEB36033)
A=0.337533/5657 (TOMMO)
A=0.341113/47764 (GnomAD)
A=0.352748/1767 (1000Genomes)
A=0.393519/85 (Qatari)
A=0.42206/1565 (TWINSUK)
A=0.423848/423 (GoNL)
A=0.425272/1639 (ALSPAC)
A=0.475/19 (GENOME_DK)
G=0.485714/2176 (Estonian)
A=0.493333/296 (NorthernSweden)
HGVS:: NC_000020.11:g.49952590G>A, NC_000020.11:g.49952590G>C, NC_000020.10:g.48569127G>A, NC_000020.10:g.48569127G>C, NM_018683.4:c.*449G>A, NM_018683.4:c.*449G>C, NM_018683.3:c.*449G>A, NM_018683.3:c.*449G>C

PubMed

Select item 22356179.

rs2235617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 20:49938440 (GRCh38)
20:48554977 (GRCh37)
Canonical SPDI:: NC_000020.11:49938439:C:A,NC_000020.11:49938439:C:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.390485/31402 (ALFA)
G=0.286195/22523 (PAGE_STUDY)
G=0.291667/28 (PRJEB36033)
G=0.291667/63 (Vietnamese)
G=0.294479/96 (HapMap)
C=0.309524/13 (Siberian)
G=0.3241/85786 (TOPMED)
C=0.32659/113 (SGDP_PRJ)
G=0.327645/960 (KOREAN)
G=0.329148/603 (Korea1K)
G=0.337639/5659 (TOMMO)
G=0.340911/47750 (GnomAD)
G=0.352748/1767 (1000Genomes)
G=0.363291/287 (PRJEB37584)
G=0.393519/85 (Qatari)
G=0.399648/454 (Daghestan)
G=0.4226/1567 (TWINSUK)
G=0.423848/423 (GoNL)
G=0.425013/1638 (ALSPAC)
G=0.475/19 (GENOME_DK)
C=0.486607/2180 (Estonian)
G=0.493333/296 (NorthernSweden)
HGVS:: NC_000020.11:g.49938440C>A, NC_000020.11:g.49938440C>G, NC_000020.10:g.48554977C>A, NC_000020.10:g.48554977C>G

PubMed LitVar

Select item 223561810.

rs2235618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:49936974 (GRCh38)
20:48553511 (GRCh37)
Canonical SPDI:: NC_000020.11:49936973:T:C
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.010612/637 (ALFA)
C=0./0 (PRJEB36033)
C=0./0 (TWINSUK)
C=0.002076/8 (ALSPAC)
C=0.011161/50 (Estonian)
C=0.013889/3 (Qatari)
C=0.017997/2521 (GnomAD)
C=0.027738/7342 (TOPMED)
C=0.028754/18 (Chileans)
C=0.080418/403 (1000Genomes)
C=0.111912/233 (HGDP_Stanford)
C=0.178723/168 (HapMap)
C=0.349057/74 (Vietnamese)
T=0.375/6 (Siberian)
T=0.405172/47 (SGDP_PRJ)
C=0.408191/1196 (KOREAN)
C=0.409406/6862 (TOMMO)
C=0.420306/770 (Korea1K)
HGVS:: NC_000020.11:g.49936974T>C, NC_000020.10:g.48553511T>C, NG_080963.1:g.183T>C

Select item 227296511.

rs2272965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:49948977 (GRCh38)
20:48565514 (GRCh37)
Canonical SPDI:: NC_000020.11:49948976:C:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.0001/14 (GnomAD)
G=0.000166/44 (TOPMED)
G=0.000468/2 (1000Genomes)
G=0.001711/5 (KOREAN)
G=0.003256/55 (TOMMO)
G=0.003821/7 (Korea1K)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.49948977C>G, NC_000020.10:g.48565514C>G

Select item 227296612.

rs2272966 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:49949162 (GRCh38)
20:48565699 (GRCh37)
Canonical SPDI:: NC_000020.11:49949161:G:A
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000042/11 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000684/2 (KOREAN)
A=0.00269/45 (TOMMO)
A=0.003275/6 (Korea1K)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000020.11:g.49949162G>A, NC_000020.10:g.48565699G>A

Select item 228121613.

rs2281216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:49951966 (GRCh38)
20:48568503 (GRCh37)
Canonical SPDI:: NC_000020.11:49951965:C:G,NC_000020.11:49951965:C:T
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.325623/5434 (ALFA)
C=0.1875/9 (Siberian)
C=0.251638/461 (Korea1K)
C=0.252884/4238 (TOMMO)
C=0.258537/106 (SGDP_PRJ)
C=0.262799/770 (KOREAN)
T=0.269663/144 (MGP)
C=0.35514/76 (Vietnamese)
T=0.364317/96431 (TOPMED)
T=0.395127/746 (HapMap)
T=0.422869/1568 (TWINSUK)
T=0.423848/423 (GoNL)
T=0.427348/1647 (ALSPAC)
T=0.435185/94 (Qatari)
T=0.442692/2217 (1000Genomes)
T=0.475/19 (GENOME_DK)
C=0.475446/2130 (Estonian)
T=0.493333/296 (NorthernSweden)
HGVS:: NC_000020.11:g.49951966C>G, NC_000020.11:g.49951966C>T, NC_000020.10:g.48568503C>G, NC_000020.10:g.48568503C>T

Select item 228121714.

rs2281217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:49951518 (GRCh38)
20:48568055 (GRCh37)
Canonical SPDI:: NC_000020.11:49951517:C:A,NC_000020.11:49951517:C:G,NC_000020.11:49951517:C:T
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.347176/4130 (ALFA)
C=0.154823/2595 (TOMMO)
C=0.181769/333 (Korea1K)
C=0.187031/548 (KOREAN)
C=0.1875/9 (Siberian)
C=0.245495/109 (SGDP_PRJ)
C=0.268519/58 (Vietnamese)
G=0.41614/110148 (TOPMED)
C=0.426563/1911 (Estonian)
C=0.47/282 (NorthernSweden)
G=0.472222/102 (Qatari)
G=0.47495/474 (GoNL)
G=0.476907/1838 (ALSPAC)
G=0.478425/1774 (TWINSUK)
C=0.494209/2475 (1000Genomes)
C=0.496951/163 (HapMap)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000020.11:g.49951518C>A, NC_000020.11:g.49951518C>G, NC_000020.11:g.49951518C>T, NC_000020.10:g.48568055C>A, NC_000020.10:g.48568055C>G, NC_000020.10:g.48568055C>T

Select item 228121815.

rs2281218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:49951286 (GRCh38)
20:48567823 (GRCh37)
Canonical SPDI:: NC_000020.11:49951285:T:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.04687/556 (ALFA)
G=0.04513/226 (1000Genomes)
G=0.07598/222 (KOREAN)
T=0.44643/25 (SGDP_PRJ)
HGVS:: NC_000020.11:g.49951286T>G, NC_000020.10:g.48567823T>G

Select item 229459916.

rs2294599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 20:49945909 (GRCh38)
20:48562446 (GRCh37)
Canonical SPDI:: NC_000020.11:49945908:G:A,NC_000020.11:49945908:G:C,NC_000020.11:49945908:G:T
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.009363/5 (MGP)
C=0.287736/61 (Vietnamese)
G=0.309524/13 (Siberian)
C=0.32427/85831 (TOPMED)
G=0.32659/113 (SGDP_PRJ)
C=0.327645/960 (KOREAN)
C=0.328603/602 (Korea1K)
C=0.337285/5653 (TOMMO)
C=0.353217/1769 (1000Genomes)
C=0.393519/85 (Qatari)
C=0.421251/1562 (TWINSUK)
C=0.423848/423 (GoNL)
C=0.425532/1640 (ALSPAC)
C=0.475/19 (GENOME_DK)
G=0.486161/2178 (Estonian)
C=0.493333/296 (NorthernSweden)
HGVS:: NC_000020.11:g.49945909G>A, NC_000020.11:g.49945909G>C, NC_000020.11:g.49945909G>T, NC_000020.10:g.48562446G>A, NC_000020.10:g.48562446G>C, NC_000020.10:g.48562446G>T

Select item 229460017.

rs2294600 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:49942850 (GRCh38)
20:48559387 (GRCh37)
Canonical SPDI:: NC_000020.11:49942849:G:A,NC_000020.11:49942849:G:T
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.014981/528 (ALFA)
A=0./0 (TWINSUK)
A=0.002076/8 (ALSPAC)
A=0.011161/50 (Estonian)
A=0.018519/4 (Qatari)
A=0.022815/3198 (GnomAD)
A=0.032861/8698 (TOPMED)
A=0.036741/23 (Chileans)
A=0.085103/426 (1000Genomes)
A=0.134644/178 (HapMap)
A=0.351852/76 (Vietnamese)
G=0.375/6 (Siberian)
G=0.40678/48 (SGDP_PRJ)
A=0.408191/1196 (KOREAN)
A=0.409583/6865 (TOMMO)
A=0.419214/768 (Korea1K)
HGVS:: NC_000020.11:g.49942850G>A, NC_000020.11:g.49942850G>T, NC_000020.10:g.48559387G>A, NC_000020.10:g.48559387G>T

Select item 286993818.

rs2869938 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 20:49935354 (GRCh38)
20:48551891 (GRCh37)
Canonical SPDI:: NC_000020.11:49935353:G:C,NC_000020.11:49935353:G:T
Gene:: RNF114 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.186007/545 (KOREAN)
G=0.2/6 (Siberian)
G=0.211236/3284 (TOMMO)
G=0.239669/116 (SGDP_PRJ)
G=0.360823/1807 (1000Genomes)
T=0.475089/267 (NorthernSweden)
G=0.484589/55815 (GnomAD)
HGVS:: NC_000020.11:g.49935354G>C, NC_000020.11:g.49935354G>T, NC_000020.10:g.48551891G>C, NC_000020.10:g.48551891G>T

Select item 286993919.

rs2869939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:49948947 (GRCh38)
20:48565484 (GRCh37)
Canonical SPDI:: NC_000020.11:49948946:T:G
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000020.11:g.49948947T>G, NC_000020.10:g.48565484T>G

Select item 321551620.

rs3215516 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 20:49948575 (GRCh38)
20:48565112 (GRCh37)
Canonical SPDI:: NC_000020.11:49948574:C:
Gene:: RNF114 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.017904/315 (ALFA)
-=0.025/1 (GENOME_DK)
-=0.036063/5049 (GnomAD)
-=0.036667/22 (NorthernSweden)
-=0.038257/192 (1000Genomes)
-=0.039533/10464 (TOPMED)
-=0.048459/217 (Estonian)
-=0.049098/49 (GoNL)
-=0.049559/191 (ALSPAC)
-=0.055556/206 (TWINSUK)
-=0.074766/16 (Vietnamese)
-=0.097643/1636 (TOMMO)
HGVS:: NC_000020.11:g.49948575del, NC_000020.10:g.48565112del

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