(METRNL[gene]) Homo sapiens[organism] - SNP

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Select item 754383211.

rs75438321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:83085192 (GRCh38)
17:81043068 (GRCh37)
Canonical SPDI:: NC_000017.11:83085191:A:G
Gene:: METRNL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.001686/253 (ALFA)
G=0.000223/1 (Estonian)
G=0.003287/817 (GnomAD_exomes)
G=0.00398/466 (ExAC)
G=0.013741/69 (1000Genomes)
G=0.01391/1951 (GnomAD)
G=0.01461/3867 (TOPMED)
G=0.015762/205 (GoESP)
G=0.022023/1725 (PAGE_STUDY)
A=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.83085192A>G, NC_000017.10:g.81043068A>G, NT_187612.1:g.18636T>C, NM_001004431.3:c.425A>G, NM_001004431.2:c.425A>G, NM_001004431.1:c.425A>G, NM_001363853.2:c.179A>G, NM_001363853.1:c.179A>G, XM_047435821.1:c.179A>G, XM_017024523.2:c.179A>G, XM_017024523.1:c.179A>G, XM_047435819.1:c.179A>G, XM_047435818.1:c.179A>G, NP_001004431.1:p.Gln142Arg, NP_001350782.1:p.Gln60Arg, XP_047291777.1:p.Gln60Arg, XP_016880012.1:p.Gln60Arg, XP_047291775.1:p.Gln60Arg, XP_047291774.1:p.Gln60Arg

Select item 1421209532.

rs142120953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:83094385 (GRCh38)
17:81052130 (GRCh37)
Canonical SPDI:: NC_000017.11:83094384:A:G
Gene:: METRNL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.010246/1407 (ALFA)
G=0.00203/10 (1000Genomes)
G=0.003281/258 (PAGE_STUDY)
G=0.003745/2 (MGP)
G=0.003795/17 (Estonian)
G=0.006579/2 (FINRISK)
G=0.006629/930 (GnomAD)
G=0.006793/1798 (TOPMED)
G=0.007086/92 (GoESP)
G=0.007352/1827 (GnomAD_exomes)
G=0.007614/905 (ExAC)
G=0.011327/42 (TWINSUK)
G=0.012195/47 (ALSPAC)
G=0.013026/13 (GoNL)
G=0.021667/13 (NorthernSweden)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.83094385A>G, NC_000017.10:g.81052130A>G, NT_187612.1:g.9193T>C, NM_001004431.3:c.746A>G, NM_001004431.2:c.746A>G, NM_001004431.1:c.746A>G, NM_001363853.2:c.500A>G, NM_001363853.1:c.500A>G, XM_047435819.1:c.500A>G, XM_017024523.2:c.500A>G, XM_017024523.1:c.500A>G, XM_047435821.1:c.500A>G, XM_047435818.1:c.500A>G, NP_001004431.1:p.His249Arg, NP_001350782.1:p.His167Arg, XP_047291775.1:p.His167Arg, XP_016880012.1:p.His167Arg, XP_047291777.1:p.His167Arg, XP_047291774.1:p.His167Arg

Select item 1490441743.

rs149044174 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:83094284 (GRCh38)
17:81052029 (GRCh37)
Canonical SPDI:: NC_000017.11:83094283:C:A,NC_000017.11:83094283:C:T
Gene:: METRNL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000405/18 (ALFA)
A=0.000586/67 (ExAC)
A=0.001693/22 (GoESP)
A=0.001867/262 (GnomAD)
A=0.001874/9 (1000Genomes)
A=0.002108/558 (TOPMED)
HGVS:: NC_000017.11:g.83094284C>A, NC_000017.11:g.83094284C>T, NC_000017.10:g.81052029C>A, NC_000017.10:g.81052029C>T, NT_187612.1:g.9294G>T, NT_187612.1:g.9294G>A, NM_001004431.3:c.645C>A, NM_001004431.3:c.645C>T, NM_001004431.2:c.645C>A, NM_001004431.2:c.645C>T, NM_001004431.1:c.645C>A, NM_001004431.1:c.645C>T, NM_001363853.2:c.399C>A, NM_001363853.2:c.399C>T, NM_001363853.1:c.399C>A, NM_001363853.1:c.399C>T, XM_047435819.1:c.399C>A, XM_047435819.1:c.399C>T, XM_017024523.2:c.399C>A, XM_017024523.2:c.399C>T, XM_017024523.1:c.399C>A, XM_017024523.1:c.399C>T, XM_047435821.1:c.399C>A, XM_047435821.1:c.399C>T, XM_047435818.1:c.399C>A, XM_047435818.1:c.399C>T

Select item 1509345444.

rs150934544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:83084998 (GRCh38)
17:81042874 (GRCh37)
Canonical SPDI:: NC_000017.11:83084997:G:A
Gene:: METRNL (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001456/21 (ALFA)
A=0.000583/146 (GnomAD_exomes)
A=0.000731/88 (ExAC)
A=0.002342/12 (1000Genomes)
A=0.002374/333 (GnomAD)
A=0.002388/632 (TOPMED)
A=0.003383/44 (GoESP)
G=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.83084998G>A, NC_000017.10:g.81042874G>A, NT_187612.1:g.18830C>T, NM_001004431.3:c.231G>A, NM_001004431.2:c.231G>A, NM_001004431.1:c.231G>A, NM_001363853.2:c.-16G>A, NM_001363853.1:c.-16G>A, XM_047435821.1:c.-16G>A, XM_017024523.2:c.-16G>A, XM_017024523.1:c.-16G>A, XM_047435819.1:c.-16G>A, XM_047435818.1:c.-16G>A

Select item 82695.

rs8269 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:83094678 (GRCh38)
17:81052423 (GRCh37)
Canonical SPDI:: NC_000017.11:83094677:A:G
Gene:: METRNL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.377978/7140 (ALFA)
G=0.408189/57180 (GnomAD)
G=0.420477/111296 (TOPMED)
A=0.453181/12806 (TOMMO)
G=0.455653/2918 (1000Genomes)
HGVS:: NC_000017.11:g.83094678A>G, NC_000017.10:g.81052423G>A, NT_187612.1:g.8900T>C, NM_001004431.3:c.*103A>G, NM_001004431.2:c.*103A>G, NM_001004431.1:c.*103A>G, NM_001363853.2:c.*103A>G, NM_001363853.1:c.*103A>G, XM_017024523.2:c.*103A>G, XM_017024523.1:c.*103A>G, XM_047435819.1:c.*103A>G, XM_047435821.1:c.*103A>G, XM_047435818.1:c.*103A>G

Select item 11332176.

rs1133217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:83094662 (GRCh38)
17:81052407 (GRCh37)
Canonical SPDI:: NC_000017.11:83094661:G:A
Gene:: METRNL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.060932/1151 (ALFA)
A=0.001873/1 (MGP)
A=0.013889/3 (Qatari)
A=0.025764/432 (TOMMO)
A=0.042453/9 (Vietnamese)
A=0.043098/216 (1000Genomes)
A=0.04878/188 (ALSPAC)
A=0.049863/146 (KOREAN)
A=0.050841/13457 (TOPMED)
A=0.053333/32 (NorthernSweden)
A=0.055016/204 (TWINSUK)
A=0.055312/7757 (GnomAD)
A=0.091295/409 (Estonian)
A=0.1/4 (GENOME_DK)
G=0.5/1 (Siberian)
G=0.5/16 (SGDP_PRJ)
HGVS:: NC_000017.11:g.83094662G>A, NC_000017.10:g.81052407G>A, NT_187612.1:g.8916C>T, NM_001004431.3:c.*87G>A, NM_001004431.2:c.*87G>A, NM_001004431.1:c.*87G>A, NM_001363853.2:c.*87G>A, NM_001363853.1:c.*87G>A, XM_047435821.1:c.*87G>A, XM_017024523.2:c.*87G>A, XM_017024523.1:c.*87G>A, XM_047435819.1:c.*87G>A, XM_047435818.1:c.*87G>A

Select item 40724447.

rs4072444 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:83090957 (GRCh38)
17:81048760 (GRCh37)
Canonical SPDI:: NC_000017.11:83090956:C:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004711/89 (ALFA)
T=0./0 (KOREAN)
T=0.002232/10 (Estonian)
T=0.003665/514 (GnomAD)
T=0.003793/1004 (TOPMED)
T=0.005/3 (NorthernSweden)
T=0.005189/20 (ALSPAC)
T=0.005933/22 (TWINSUK)
T=0.008432/42 (1000Genomes)
C=0.5/3 (SGDP_PRJ)
HGVS:: NC_000017.11:g.83090957C>T, NC_000017.10:g.81048760C>T, NT_187612.1:g.12621G>A

Select item 40725238.

rs4072523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:83089953 (GRCh38)
17:81047829 (GRCh37)
Canonical SPDI:: NC_000017.11:83089952:G:A,NC_000017.11:83089952:G:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.143778/3168 (ALFA)
A=0.181667/109 (NorthernSweden)
A=0.189735/50221 (TOPMED)
A=0.190392/26610 (GnomAD)
A=0.196205/879 (Estonian)
A=0.197689/990 (1000Genomes)
A=0.198755/766 (ALSPAC)
A=0.198759/737 (TWINSUK)
A=0.2/8 (GENOME_DK)
A=0.23011/3856 (TOMMO)
A=0.245896/719 (KOREAN)
A=0.278302/59 (Vietnamese)
A=0.310185/67 (Qatari)
G=0.43299/84 (SGDP_PRJ)
A=0.474913/549 (Korea1K)
G=0.5/6 (Siberian)
HGVS:: NC_000017.11:g.83089953G>A, NC_000017.11:g.83089953G>T, NC_000017.10:g.81047829G>A, NC_000017.10:g.81047829G>T, NT_187612.1:g.13884C>T, NT_187612.1:g.13884C>A

Select item 49860789.

rs4986078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:83078678 (GRCh38)
17:81036554 (GRCh37)
Canonical SPDI:: NC_000017.11:83078677:C:A,NC_000017.11:83078677:C:G,NC_000017.11:83078677:C:T
Gene:: METRNL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.297904/12139 (ALFA)
A=0.3/12 (GENOME_DK)
A=0.300431/1114 (TWINSUK)
C=0.305556/11 (Siberian)
A=0.310846/1198 (ALSPAC)
C=0.314516/117 (SGDP_PRJ)
A=0.343371/48072 (GnomAD)
A=0.348853/92338 (TOPMED)
C=0.367375/1072 (KOREAN)
A=0.376667/226 (NorthernSweden)
A=0.377455/1691 (Estonian)
A=0.384259/83 (Qatari)
A=0.415678/2082 (1000Genomes)
C=0.428233/7177 (TOMMO)
HGVS:: NC_000017.11:g.83078678C>A, NC_000017.11:g.83078678C>G, NC_000017.11:g.83078678C>T, NC_000017.10:g.81036554C>A, NC_000017.10:g.81036554C>G, NC_000017.10:g.81036554C>T, NT_187612.1:g.25158G>T, NT_187612.1:g.25158G>C, NT_187612.1:g.25158G>A

Select item 498607910.

rs4986079 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:83091592 (GRCh38)
17:81049395 (GRCh37)
Canonical SPDI:: NC_000017.11:83091591:A:C,NC_000017.11:83091591:A:G
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.360492/6535 (ALFA)
G=0.2/8 (GENOME_DK)
G=0.246493/246 (GoNL)
G=0.323549/948 (KOREAN)
A=0.326471/111 (SGDP_PRJ)
G=0.335/201 (NorthernSweden)
G=0.340885/1264 (TWINSUK)
G=0.341723/1317 (ALSPAC)
G=0.345982/1550 (Estonian)
A=0.347826/16 (Siberian)
G=0.384259/83 (Qatari)
G=0.384986/101902 (TOPMED)
G=0.38758/54072 (GnomAD)
G=0.413339/2070 (1000Genomes)
G=0.427014/7155 (TOMMO)
HGVS:: NC_000017.11:g.83091592A>C, NC_000017.11:g.83091592A>G, NC_000017.10:g.81049395A>C, NC_000017.10:g.81049395A>G, NT_187612.1:g.11986C>T, NT_187612.1:g.11986C>G

Select item 498608011.

rs4986080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:83091938 (GRCh38)
17:81049741 (GRCh37)
Canonical SPDI:: NC_000017.11:83091937:A:G
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.343515/6489 (ALFA)
G=0.373722/52342 (GnomAD)
G=0.390627/103395 (TOPMED)
G=0.448938/2875 (1000Genomes)
A=0.450669/12735 (TOMMO)
HGVS:: NC_000017.11:g.83091938A>G, NC_000017.10:g.81049741G>A, NT_187612.1:g.11640T>C

Select item 498608112.

rs4986081 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:83091989 (GRCh38)
17:81049792 (GRCh37)
Canonical SPDI:: NC_000017.11:83091988:A:G,NC_000017.11:83091988:A:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.213976/2768 (ALFA)
G=0.387956/102688 (TOPMED)
G=0.447377/2865 (1000Genomes)
A=0.4512/12750 (TOMMO)
HGVS:: NC_000017.11:g.83091989A>G, NC_000017.11:g.83091989A>T, NC_000017.10:g.81049792G>A, NC_000017.10:g.81049792G>T, NT_187612.1:g.11589T>C, NT_187612.1:g.11589T>A

Select item 498610713.

rs4986107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:83091588 (GRCh38)
17:81049391 (GRCh37)
Canonical SPDI:: NC_000017.11:83091587:T:C,NC_000017.11:83091587:T:G
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.247988/3020 (ALFA)
C=0.225/9 (GENOME_DK)
C=0.267535/267 (GoNL)
T=0.321212/106 (SGDP_PRJ)
C=0.323891/949 (KOREAN)
T=0.347826/16 (Siberian)
C=0.35/210 (NorthernSweden)
C=0.352361/1358 (ALSPAC)
C=0.354911/1590 (Estonian)
C=0.356257/1321 (TWINSUK)
C=0.393147/104062 (TOPMED)
C=0.393519/85 (Qatari)
C=0.418176/2094 (1000Genomes)
C=0.428789/7186 (TOMMO)
HGVS:: NC_000017.11:g.83091588T>C, NC_000017.11:g.83091588T>G, NC_000017.10:g.81049391T>C, NC_000017.10:g.81049391T>G, NT_187612.1:g.11990G>A, NT_187612.1:g.11990G>C

Select item 498610814.

rs4986108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:83091817 (GRCh38)
17:81049620 (GRCh37)
Canonical SPDI:: NC_000017.11:83091816:G:A,NC_000017.11:83091816:G:C,NC_000017.11:83091816:G:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000078/3 (ALFA)
A=0./0 (KOREAN)
A=0.000156/1 (1000Genomes)
A=0.000328/46 (GnomAD)
HGVS:: NC_000017.11:g.83091817G>A, NC_000017.11:g.83091817G>C, NC_000017.11:g.83091817G>T, NC_000017.10:g.81049620T>G, NC_000017.10:g.81049620T>A, NC_000017.10:g.81049620T>C, NT_187612.1:g.11761C>T, NT_187612.1:g.11761C>G, NT_187612.1:g.11761C>A

Select item 498610915.

rs4986109 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 17:83091923 (GRCh38)
17:81049726 (GRCh37)
Canonical SPDI:: NC_000017.11:83091922:T:A,NC_000017.11:83091922:T:C,NC_000017.11:83091922:T:G
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.294829/29855 (ALFA)
G=0./0 (KOREAN)
C=0.373875/52365 (GnomAD)
C=0.390838/103451 (TOPMED)
C=0.447047/35171 (PAGE_STUDY)
C=0.447533/2866 (1000Genomes)
T=0.450633/12734 (TOMMO)
HGVS:: NC_000017.11:g.83091923T>A, NC_000017.11:g.83091923T>C, NC_000017.11:g.83091923T>G, NC_000017.10:g.81049726C>T, NC_000017.10:g.81049726C>A, NC_000017.10:g.81049726C>G, NT_187612.1:g.11655A>T, NT_187612.1:g.11655A>G, NT_187612.1:g.11655A>C

Select item 641685616.

rs6416856 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:83077698 (GRCh38)
17:81035574 (GRCh37)
Canonical SPDI:: NC_000017.11:83077697:C:G,NC_000017.11:83077697:C:T
Gene:: METRNL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.281365/5333 (ALFA)
C=0.088785/19 (Vietnamese)
C=0.098202/1646 (TOMMO)
C=0.125342/367 (KOREAN)
C=0.134615/7 (Siberian)
C=0.159696/84 (SGDP_PRJ)
C=0.201437/1009 (1000Genomes)
C=0.208157/393 (HapMap)
C=0.253315/67050 (TOPMED)
C=0.259259/56 (Qatari)
C=0.261345/36628 (GnomAD)
C=0.267188/1197 (Estonian)
C=0.315/189 (NorthernSweden)
C=0.317852/1225 (ALSPAC)
C=0.333603/1237 (TWINSUK)
C=0.366733/366 (GoNL)
C=0.5/20 (GENOME_DK)
HGVS:: NC_000017.11:g.83077698C>G, NC_000017.11:g.83077698C>T, NC_000017.10:g.81035574C>G, NC_000017.10:g.81035574C>T, NT_187612.1:g.26138A>G, NT_187612.1:g.26138A>C

Select item 650204317.

rs6502043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:83083201 (GRCh38)
17:81041077 (GRCh37)
Canonical SPDI:: NC_000017.11:83083200:C:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.323844/63954 (ALFA)
T=0.127389/80 (Korea1K)
T=0.217593/47 (Qatari)
T=0.25/10 (GENOME_DK)
C=0.292308/114 (SGDP_PRJ)
T=0.293959/1090 (TWINSUK)
C=0.3/12 (Siberian)
C=0.3/879 (KOREAN)
T=0.30896/43273 (GnomAD)
T=0.310621/310 (GoNL)
T=0.310846/1198 (ALSPAC)
T=0.323329/85582 (TOPMED)
T=0.325/1456 (Estonian)
T=0.327303/67122 (GENOGRAPHIC)
C=0.366445/6142 (TOMMO)
T=0.37447/707 (HapMap)
T=0.393333/236 (NorthernSweden)
T=0.403498/2021 (1000Genomes)
T=0.414634/34 (PRJEB36033)
C=0.457944/98 (Vietnamese)
T=0.488004/1017 (HGDP_Stanford)
HGVS:: NC_000017.11:g.83083201C>T, NC_000017.10:g.81041077C>T, NT_187612.1:g.20627G>A

Select item 650204418.

rs6502044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:83083462 (GRCh38)
17:81041338 (GRCh37)
Canonical SPDI:: NC_000017.11:83083461:A:G
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.481414/71928 (ALFA)
A=0.201217/3372 (TOMMO)
A=0.203704/11 (Siberian)
A=0.208874/612 (KOREAN)
A=0.233471/113 (SGDP_PRJ)
A=0.325472/69 (Vietnamese)
A=0.356765/675 (HapMap)
A=0.357745/1792 (1000Genomes)
A=0.408474/108119 (TOPMED)
A=0.420837/58966 (GnomAD)
A=0.45558/2041 (Estonian)
G=0.466934/466 (GoNL)
A=0.476667/286 (NorthernSweden)
G=0.485707/1801 (TWINSUK)
A=0.495589/1910 (ALSPAC)
A=0.5/108 (Qatari)
HGVS:: NC_000017.11:g.83083462A>G, NC_000017.10:g.81041338A>G, NT_187612.1:g.20366C>T

Select item 720788619.

rs7207886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:83089845 (GRCh38)
17:81047721 (GRCh37)
Canonical SPDI:: NC_000017.11:83089844:C:A,NC_000017.11:83089844:C:G,NC_000017.11:83089844:C:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.188333/113 (NorthernSweden)
T=0.19308/865 (Estonian)
T=0.19822/735 (TWINSUK)
T=0.2/8 (GENOME_DK)
T=0.20109/775 (ALSPAC)
T=0.230358/3860 (TOMMO)
T=0.246243/721 (KOREAN)
T=0.271429/57 (Vietnamese)
T=0.273051/72274 (TOPMED)
T=0.280606/1405 (1000Genomes)
T=0.342593/74 (Qatari)
C=0.395238/83 (SGDP_PRJ)
C=0.466241/511 (Korea1K)
C=0.5/6 (Siberian)
HGVS:: NC_000017.11:g.83089845C>A, NC_000017.11:g.83089845C>G, NC_000017.11:g.83089845C>T, NC_000017.10:g.81047721C>A, NC_000017.10:g.81047721C>G, NC_000017.10:g.81047721C>T, NT_187612.1:g.13992G>T, NT_187612.1:g.13992G>C, NT_187612.1:g.13992G>A

Select item 721685520.

rs7216855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:83091324 (GRCh38)
17:81049127 (GRCh37)
Canonical SPDI:: NC_000017.11:83091323:G:A,NC_000017.11:83091323:G:T
Gene:: METRNL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000381/7 (ALFA)
A=0./0 (TWINSUK)
A=0.000071/2 (TOMMO)
A=0.000519/2 (ALSPAC)
A=0.00067/3 (Estonian)
A=0.001027/3 (KOREAN)
A=0.009259/2 (Qatari)
A=0.027208/3815 (GnomAD)
A=0.033729/169 (1000Genomes)
G=0.5/1 (Siberian)
G=0.5/5 (SGDP_PRJ)
HGVS:: NC_000017.11:g.83091324G>A, NC_000017.11:g.83091324G>T, NC_000017.10:g.81049127G>A, NC_000017.10:g.81049127G>T, NT_187612.1:g.12254C>T, NT_187612.1:g.12254C>A

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