NR2E3 - SNP

Search results

Items: 1 to 20 of 4373

<< First< Prev

Page of 219

Next >Last >>

Select item 9005461.

rs900546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:71811853 (GRCh38)
15:72104193 (GRCh37)
Canonical SPDI:: NC_000015.10:71811852:G:A,NC_000015.10:71811852:G:C
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000711/35 (ALFA)
A=0.000223/1 (Estonian)
A=0.00117/13 (GoESP)
A=0.002282/320 (GnomAD)
A=0.002342/12 (1000Genomes)
A=0.002595/687 (TOPMED)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71811853G>A, NC_000015.10:g.71811853G>C, NC_000015.9:g.72104193G>A, NC_000015.9:g.72104193G>C, NG_009113.2:g.6299G>A, NG_009113.2:g.6299G>C, NM_016346.4:c.333G>A, NM_016346.4:c.333G>C, NM_016346.3:c.333G>A, NM_016346.3:c.333G>C, NM_014249.4:c.333G>A, NM_014249.4:c.333G>C, NM_014249.3:c.333G>A, NM_014249.3:c.333G>C, NM_001281446.1:c.69G>A, NM_001281446.1:c.69G>C

Select item 9005472.

rs900547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:71811876 (GRCh38)
15:72104216 (GRCh37)
Canonical SPDI:: NC_000015.10:71811875:C:G,NC_000015.10:71811875:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: uncertain-significance,benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000804/36 (ALFA)
T=0.001128/19 (ExAC)
T=0.001746/19 (GoESP)
T=0.002498/13 (1000Genomes)
T=0.002735/724 (TOPMED)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71811876C>G, NC_000015.10:g.71811876C>T, NC_000015.9:g.72104216C>G, NC_000015.9:g.72104216C>T, NG_009113.2:g.6322C>G, NG_009113.2:g.6322C>T

Select item 18050203.

rs1805020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:71812024 (GRCh38)
15:72104364 (GRCh37)
Canonical SPDI:: NC_000015.10:71812023:A:G
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.031962/7856 (ALFA)
G=0.003745/2 (MGP)
G=0.00463/1 (Qatari)
G=0.014265/176 (GoESP)
G=0.019979/77 (ALSPAC)
G=0.023046/23 (GoNL)
G=0.023732/88 (TWINSUK)
G=0.02391/3352 (GnomAD)
G=0.024145/6391 (TOPMED)
G=0.031667/19 (NorthernSweden)
G=0.038797/6179 (GnomAD_exomes)
G=0.041885/814 (ExAC)
G=0.048563/243 (1000Genomes)
G=0.05/2 (GENOME_DK)
G=0.050568/3979 (PAGE_STUDY)
G=0.055357/248 (Estonian)
G=0.085366/28 (HapMap)
G=0.127869/78 (Vietnamese)
G=0.164122/129 (PRJEB37584)
G=0.267785/4487 (TOMMO)
G=0.267943/784 (KOREAN)
A=0.375/3 (Siberian)
A=0.486842/37 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71812024A>G, NC_000015.9:g.72104364A>G, NG_009113.2:g.6470A>G, NM_016346.4:c.419A>G, NM_016346.3:c.419A>G, NM_014249.4:c.419A>G, NM_014249.3:c.419A>G, NM_001281446.1:c.155A>G, NP_057430.1:p.Glu140Gly, NP_055064.1:p.Glu140Gly

LitVar

Select item 18050214.

rs1805021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:71812093 (GRCh38)
15:72104433 (GRCh37)
Canonical SPDI:: NC_000015.10:71812092:T:C
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.026637/1310 (ALFA)
C=0.00463/1 (Qatari)
C=0.016854/9 (MGP)
C=0.017128/203 (GoESP)
C=0.01972/76 (ALSPAC)
C=0.023732/88 (TWINSUK)
C=0.024806/3477 (GnomAD)
C=0.02515/6657 (TOPMED)
C=0.031667/19 (NorthernSweden)
C=0.039527/6331 (GnomAD_exomes)
C=0.045721/919 (ExAC)
C=0.049969/250 (1000Genomes)
C=0.05/2 (GENOME_DK)
C=0.055134/247 (Estonian)
C=0.131363/80 (Vietnamese)
C=0.269126/788 (KOREAN)
C=0.269979/4524 (TOMMO)
T=0.375/3 (Siberian)
T=0.487179/38 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71812093T>C, NC_000015.9:g.72104433T>C, NG_009113.2:g.6539T>C, NM_016346.4:c.488T>C, NM_016346.3:c.488T>C, NM_014249.4:c.488T>C, NM_014249.3:c.488T>C, NM_001281446.1:c.224T>C, NP_057430.1:p.Met163Thr, NP_055064.1:p.Met163Thr

LitVar

Select item 18050225.

rs1805022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:71812110 (GRCh38)
15:72104450 (GRCh37)
Canonical SPDI:: NC_000015.10:71812109:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance,benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004132/149 (ALFA)
T=0.000035/1 (TOMMO)
T=0.002973/487 (GnomAD_exomes)
T=0.003745/2 (MGP)
T=0.005941/125 (ExAC)
T=0.009187/111 (GoESP)
T=0.013512/1895 (GnomAD)
T=0.013889/3 (Qatari)
T=0.013898/70 (1000Genomes)
T=0.014107/3734 (TOPMED)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71812110C>T, NC_000015.9:g.72104450C>T, NG_009113.2:g.6556C>T, NM_016346.4:c.505C>T, NM_016346.3:c.505C>T, NM_014249.4:c.505C>T, NM_014249.3:c.505C>T, NM_001281446.1:c.241C>T

Select item 18050236.

rs1805023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:71812458 (GRCh38)
15:72104798 (GRCh37)
Canonical SPDI:: NC_000015.10:71812457:G:A
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000616/123 (ALFA)
A=0.001701/423 (GnomAD_exomes)
A=0.002138/256 (ExAC)
A=0.003745/2 (MGP)
A=0.00463/1 (Qatari)
A=0.006235/77 (GoESP)
A=0.006871/34 (1000Genomes)
A=0.006898/967 (GnomAD)
A=0.00728/1927 (TOPMED)
A=0.010589/833 (PAGE_STUDY)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71812458G>A, NC_000015.9:g.72104798G>A, NG_009113.2:g.6904G>A, NM_016346.4:c.694G>A, NM_016346.3:c.694G>A, NM_014249.4:c.694G>A, NM_014249.3:c.694G>A, NM_001281446.1:c.430G>A, NP_057430.1:p.Val232Ile, NP_055064.1:p.Val232Ile

LitVar

Select item 18050247.

rs1805024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:71813523 (GRCh38)
15:72105863 (GRCh37)
Canonical SPDI:: NC_000015.10:71813522:G:A,NC_000015.10:71813522:G:T
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000071/1 (TOMMO)
T=0.000082/1 (GoESP)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.71813523G>A, NC_000015.10:g.71813523G>T, NC_000015.9:g.72105863G>A, NC_000015.9:g.72105863G>T, NG_009113.2:g.7969G>A, NG_009113.2:g.7969G>T, NM_016346.4:c.882G>A, NM_016346.4:c.882G>T, NM_016346.3:c.882G>A, NM_016346.3:c.882G>T, NM_014249.4:c.882G>A, NM_014249.4:c.882G>T, NM_014249.3:c.882G>A, NM_014249.3:c.882G>T, NM_001281446.1:c.618G>A, NM_001281446.1:c.618G>T

Select item 18050258.

rs1805025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:71813545 (GRCh38)
15:72105885 (GRCh37)
Canonical SPDI:: NC_000015.10:71813544:G:A
Gene:: NR2E3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000403/12 (ALFA)
A=0.000081/1 (GoESP)
A=0.000634/89 (GnomAD)
A=0.001005/266 (TOPMED)
A=0.003786/941 (GnomAD_exomes)
A=0.004105/479 (ExAC)
A=0.00913/153 (TOMMO)
A=0.009994/50 (1000Genomes)
A=0.015764/46 (KOREAN)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71813545G>A, NC_000015.9:g.72105885G>A, NG_009113.2:g.7991G>A, NM_016346.4:c.904G>A, NM_016346.3:c.904G>A, NM_014249.4:c.904G>A, NM_014249.3:c.904G>A, NM_001281446.1:c.640G>A, NP_057430.1:p.Val302Ile, NP_055064.1:p.Val302Ile

LitVar

Select item 24151209.

rs2415120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 15:71813204 (GRCh38)
15:72105544 (GRCh37)
Canonical SPDI:: NC_000015.10:71813203:A:C,NC_000015.10:71813203:A:G,NC_000015.10:71813203:A:T
Gene:: NR2E3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.290057/43331 (ALFA)
G=0.253333/152 (NorthernSweden)
G=0.259211/999 (ALSPAC)
G=0.262946/1178 (Estonian)
G=0.276699/1026 (TWINSUK)
G=0.278557/278 (GoNL)
G=0.282407/61 (Qatari)
A=0.300518/116 (SGDP_PRJ)
A=0.330375/968 (KOREAN)
A=0.343886/630 (Korea1K)
G=0.35/14 (GENOME_DK)
A=0.351688/5894 (TOMMO)
G=0.364632/51055 (GnomAD)
G=0.375398/99364 (TOPMED)
A=0.400943/85 (Vietnamese)
A=0.416667/10 (Siberian)
G=0.440974/2208 (1000Genomes)
G=0.497354/940 (HapMap)
HGVS:: NC_000015.10:g.71813204A>C, NC_000015.10:g.71813204A>G, NC_000015.10:g.71813204A>T, NC_000015.9:g.72105544A>C, NC_000015.9:g.72105544A>G, NC_000015.9:g.72105544A>T, NG_009113.2:g.7650A>C, NG_009113.2:g.7650A>G, NG_009113.2:g.7650A>T

Select item 272334110.

rs2723341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:71811481 (GRCh38)
15:72103821 (GRCh37)
Canonical SPDI:: NC_000015.10:71811480:A:C,NC_000015.10:71811480:A:G
Gene:: NR2E3 (Varview)
Functional Consequence:: splice_acceptor_variant
Clinical significance:: pathogenic-likely-pathogenic,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00065/32 (ALFA)
C=0.000223/1 (Estonian)
C=0.000312/2 (1000Genomes)
C=0.000407/8 (ExAC)
C=0.000468/124 (TOPMED)
C=0.000526/85 (GnomAD_exomes)
HGVS:: NC_000015.10:g.71811481A>C, NC_000015.10:g.71811481A>G, NC_000015.9:g.72103821A>C, NC_000015.9:g.72103821A>G, NG_009113.2:g.5927A>C, NG_009113.2:g.5927A>G

LitVar

Select item 274231811.

rs2742318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 15:71811455 (GRCh38)
15:72103795 (GRCh37)
Canonical SPDI:: NC_000015.10:71811454:T:A,NC_000015.10:71811454:T:C,NC_000015.10:71811454:T:G
Gene:: NR2E3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.019503/248 (ALFA)
G=0./0 (KOREAN)
C=0.02439/94 (ALSPAC)
C=0.026969/100 (TWINSUK)
C=0.031667/19 (NorthernSweden)
C=0.05/2 (GENOME_DK)
C=0.067566/1122 (ExAC)
C=0.072162/11125 (GnomAD_exomes)
C=0.077146/904 (GoESP)
C=0.087963/19 (Qatari)
C=0.130841/28 (Vietnamese)
C=0.144369/723 (1000Genomes)
C=0.276012/4625 (TOMMO)
T=0.4/4 (Siberian)
T=0.434343/86 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71811455T>A, NC_000015.10:g.71811455T>C, NC_000015.10:g.71811455T>G, NC_000015.9:g.72103795T>A, NC_000015.9:g.72103795T>C, NC_000015.9:g.72103795T>G, NG_009113.2:g.5901T>A, NG_009113.2:g.5901T>C, NG_009113.2:g.5901T>G

Select item 378431012.

rs3784310 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:71811087 (GRCh38)
15:72103427 (GRCh37)
Canonical SPDI:: NC_000015.10:71811086:T:C
Gene:: NR2E3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.329147/48929 (ALFA)
T=0.240291/99 (SGDP_PRJ)
C=0.258333/155 (NorthernSweden)
C=0.266476/1027 (ALSPAC)
C=0.272098/1219 (Estonian)
T=0.282341/825 (KOREAN)
C=0.28425/1054 (TWINSUK)
T=0.289532/520 (Korea1K)
T=0.310257/5199 (TOMMO)
T=0.325472/69 (Vietnamese)
C=0.342593/74 (Qatari)
C=0.35/14 (GENOME_DK)
T=0.364693/690 (HapMap)
T=0.388889/14 (Siberian)
T=0.428638/2147 (1000Genomes)
C=0.47373/66307 (GnomAD)
C=0.490706/129885 (TOPMED)
HGVS:: NC_000015.10:g.71811087T>C, NC_000015.9:g.72103427T>C, NG_009113.2:g.5533T>C

Select item 992037113.

rs9920371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:71811617 (GRCh38)
15:72103957 (GRCh37)
Canonical SPDI:: NC_000015.10:71811616:C:G,NC_000015.10:71811616:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00022/10 (ALFA)
T=0.00187/1 (MGP)
T=0.00188/114 (ExAC)
T=0.00385/48 (GoESP)
T=0.00656/33 (1000Genomes)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71811617C>G, NC_000015.10:g.71811617C>T, NC_000015.9:g.72103957C>G, NC_000015.9:g.72103957C>T, NG_009113.2:g.6063C>G, NG_009113.2:g.6063C>T

Select item 1135124914.

rs11351249 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 15:71813589 (GRCh38)
15:72105929 (GRCh37)
Canonical SPDI:: NC_000015.10:71813588:CCCC:CCC,NC_000015.10:71813588:CCCC:CCCCC
Gene:: NR2E3 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: benign,likely-benign,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.00001/1 (PAGE_STUDY)
HGVS:: NC_000015.10:g.71813592del, NC_000015.10:g.71813592dup, NC_000015.9:g.72105933del, NC_000015.9:g.72105933dup, NG_009113.2:g.8038del, NG_009113.2:g.8038dup, NM_016346.4:c.951del, NM_016346.4:c.951dup, NM_016346.3:c.951del, NM_016346.3:c.951dup, NM_014249.4:c.951del, NM_014249.4:c.951dup, NM_014249.3:c.951del, NM_014249.3:c.951dup, NM_001281446.1:c.687del, NM_001281446.1:c.687dup, NP_057430.1:p.Thr318fs, NP_057430.1:p.Thr318fs, NP_055064.1:p.Thr318fs, NP_055064.1:p.Thr318fs

Select item 2893787315.

rs28937873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:71813573 (GRCh38)
15:72105913 (GRCh37)
Canonical SPDI:: NC_000015.10:71813572:G:A
Gene:: NR2E3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic,pathogenic,pathogenic-likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000338/67 (ALFA)
A=0.000321/45 (GnomAD)
A=0.000342/35 (ExAC)
A=0.000395/88 (GnomAD_exomes)
A=0.000468/124 (TOPMED)
A=0.000534/42 (PAGE_STUDY)
A=0.001093/5 (1000Genomes)
HGVS:: NC_000015.10:g.71813573G>A, NC_000015.9:g.72105913G>A, NG_009113.2:g.8019G>A, NM_016346.4:c.932G>A, NM_016346.3:c.932G>A, NM_014249.4:c.932G>A, NM_014249.3:c.932G>A, NM_001281446.1:c.668G>A, NP_057430.1:p.Arg311Gln, NP_055064.1:p.Arg311Gln

LitVar

Select item 3500405316.

rs35004053 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:71814112 (GRCh38)
15:72106453 (GRCh37)
Canonical SPDI:: NC_000015.10:71814111:C:G,NC_000015.10:71814111:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001363/268 (ALFA)
T=0./0 (ALSPAC)
T=0.000809/3 (TWINSUK)
T=0.016742/215 (GoESP)
T=0.020768/104 (1000Genomes)
T=0.023148/5 (Qatari)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71814112C>G, NC_000015.10:g.71814112C>T, NC_000015.9:g.72106453C>G, NC_000015.9:g.72106453C>T, NG_009113.2:g.8558C>G, NG_009113.2:g.8558C>T, NM_016346.4:c.1095C>G, NM_016346.4:c.1095C>T, NM_016346.3:c.1095C>G, NM_016346.3:c.1095C>T, NM_014249.4:c.1095C>G, NM_014249.4:c.1095C>T, NM_014249.3:c.1095C>G, NM_014249.3:c.1095C>T, NM_001281446.1:c.831C>G, NM_001281446.1:c.831C>T

Select item 7139504317.

rs71395043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:71818251 (GRCh38)
15:72110592 (GRCh37)
Canonical SPDI:: NC_000015.10:71818250:C:A,NC_000015.10:71818250:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01943/367 (ALFA)
A=0.00463/1 (Qatari)
A=0.01421/71 (1000Genomes)
A=0.018036/18 (GoNL)
A=0.018333/11 (NorthernSweden)
A=0.018785/2607 (GnomAD)
A=0.019328/5116 (TOPMED)
A=0.020758/80 (ALSPAC)
A=0.021198/355 (TOMMO)
A=0.023732/88 (TWINSUK)
A=0.025325/74 (KOREAN)
A=0.030022/55 (Korea1K)
A=0.05/2 (GENOME_DK)
C=0.5/12 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71818251C>A, NC_000015.10:g.71818251C>T, NC_000015.9:g.72110592C>A, NC_000015.9:g.72110592C>T, NG_009113.2:g.12697C>A, NG_009113.2:g.12697C>T, NM_014249.4:c.*567C>A, NM_014249.4:c.*567C>T, NM_014249.3:c.*567C>A, NM_014249.3:c.*567C>T, NM_001281446.1:c.*567C>A, NM_001281446.1:c.*567C>T

Select item 7274469818.

rs72744698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:71812601 (GRCh38)
15:72104941 (GRCh37)
Canonical SPDI:: NC_000015.10:71812600:C:A,NC_000015.10:71812600:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.05958/1762 (ALFA)
T=0.00004/1 (TOMMO)
T=0.00055/1 (Korea1K)
T=0.03217/161 (1000Genomes)
T=0.0463/10 (Qatari)
T=0.07/42 (NorthernSweden)
T=0.07767/288 (TWINSUK)
T=0.07992/308 (ALSPAC)
T=0.08517/85 (GoNL)
T=0.11317/507 (Estonian)
C=0.5/22 (SGDP_PRJ)
C=0.5/4 (Siberian)
HGVS:: NC_000015.10:g.71812601C>A, NC_000015.10:g.71812601C>T, NC_000015.9:g.72104941C>A, NC_000015.9:g.72104941C>T, NG_009113.2:g.7047C>A, NG_009113.2:g.7047C>T

Select item 7697883019.

rs76978830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:71818250 (GRCh38)
15:72110591 (GRCh37)
Canonical SPDI:: NC_000015.10:71818249:A:C,NC_000015.10:71818249:A:G
Gene:: NR2E3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.032214/618 (ALFA)
C=0.00463/1 (Qatari)
C=0.020239/78 (ALSPAC)
C=0.024048/24 (GoNL)
C=0.024272/90 (TWINSUK)
C=0.026518/3715 (GnomAD)
C=0.026896/7119 (TOPMED)
C=0.031667/19 (NorthernSweden)
C=0.05/2 (GENOME_DK)
C=0.05153/258 (1000Genomes)
C=0.268601/787 (KOREAN)
C=0.272029/4559 (TOMMO)
A=0.375/3 (Siberian)
A=0.487179/38 (SGDP_PRJ)
HGVS:: NC_000015.10:g.71818250A>C, NC_000015.10:g.71818250A>G, NC_000015.9:g.72110591A>C, NC_000015.9:g.72110591A>G, NG_009113.2:g.12696A>C, NG_009113.2:g.12696A>G, NM_014249.4:c.*566A>C, NM_014249.4:c.*566A>G, NM_014249.3:c.*566A>C, NM_014249.3:c.*566A>G, NM_001281446.1:c.*566A>C, NM_001281446.1:c.*566A>G

Select item 10489449220.

rs104894492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:71811590 (GRCh38)
15:72103930 (GRCh37)
Canonical SPDI:: NC_000015.10:71811589:C:A,NC_000015.10:71811589:C:T
Gene:: NR2E3 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000042/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000038/3 (PAGE_STUDY)
HGVS:: NC_000015.10:g.71811590C>A, NC_000015.10:g.71811590C>T, NC_000015.9:g.72103930C>A, NC_000015.9:g.72103930C>T, NG_009113.2:g.6036C>A, NG_009113.2:g.6036C>T, NM_016346.4:c.226C>A, NM_016346.4:c.226C>T, NM_016346.3:c.226C>A, NM_016346.3:c.226C>T, NM_014249.4:c.226C>A, NM_014249.4:c.226C>T, NM_014249.3:c.226C>A, NM_014249.3:c.226C>T, NM_001281446.1:c.-39C>A, NM_001281446.1:c.-39C>T, NP_057430.1:p.Arg76Trp, NP_055064.1:p.Arg76Trp

LitVar

<< First< Prev

Page of 219

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Search results

Items: 1 to 20 of 4373

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity