SNP Links for PMC (Select 2442111) - SNP

Links from PMC

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Select item 353509601.

rs35350960 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:233760973 (GRCh38)
2:234669619 (GRCh37)
Canonical SPDI:: NC_000002.12:233760972:C:A,NC_000002.12:233760972:C:T
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Clinical significance:: pathogenic,other,uncertain-significance,conflicting-interpretations-of-pathogenicity,affects
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000996/176 (ALFA)
A=0.000606/2 (PRJEB37766)
A=0.001873/1 (MGP)
A=0.002498/13 (1000Genomes)
A=0.004884/82 (TOMMO)
A=0.010622/836 (PAGE_STUDY)
A=0.011392/9 (PRJEB37584)
A=0.012567/14 (PharmGKB)
A=0.013005/38 (KOREAN)
A=0.013646/25 (Korea1K)
A=0.014754/9 (Vietnamese)
C=0.5/2 (SGDP_PRJ)
HGVS:: NC_000002.12:g.233760973C>A, NC_000002.12:g.233760973C>T, NC_000002.11:g.234669619C>A, NC_000002.11:g.234669619C>T, NG_002601.2:g.176230C>A, NG_002601.2:g.176230C>T, NM_000463.2:c.686C>A, NM_000463.2:c.686C>T, NM_000463.3:c.686C>A, NM_000463.3:c.686C>T, NG_033238.1:g.5701C>A, NG_033238.1:g.5701C>T, NP_000454.1:p.Pro229Gln, NP_000454.1:p.Pro229Leu

PubMed LitVar

Select item 349937802.

rs34993780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:233772413 (GRCh38)
2:234681059 (GRCh37)
Canonical SPDI:: NC_000002.12:233772412:T:A,NC_000002.12:233772412:T:C,NC_000002.12:233772412:T:G
Gene:: UGT1A10 (Varview), UGT1A8 (Varview), UGT1A7 (Varview), UGT1A6 (Varview), UGT1A5 (Varview), UGT1A9 (Varview), UGT1A4 (Varview), UGT1A1 (Varview), UGT1A3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,pathogenic-likely-pathogenic,likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000042/9 (ALFA)
G=0.000185/49 (TOPMED)
G=0.000223/1 (Estonian)
G=0.000223/56 (GnomAD_exomes)
G=0.000229/18 (PAGE_STUDY)
G=0.000781/4 (1000Genomes)
G=0.001092/2 (Korea1K)
G=0.001309/22 (TOMMO)
G=0.001369/4 (KOREAN)
G=0.003257/2 (Vietnamese)
G=0.007595/6 (PRJEB37584)
G=0.013889/2 (PharmGKB)
HGVS:: NC_000002.12:g.233772413T>A, NC_000002.12:g.233772413T>C, NC_000002.12:g.233772413T>G, NC_000002.11:g.234681059T>A, NC_000002.11:g.234681059T>C, NC_000002.11:g.234681059T>G, NG_002601.2:g.187670T>A, NG_002601.2:g.187670T>C, NG_002601.2:g.187670T>G, NM_019076.4:c.1447T>A, NM_019076.4:c.1447T>C, NM_019076.4:c.1447T>G, NM_019076.5:c.1447T>A, NM_019076.5:c.1447T>C, NM_019076.5:c.1447T>G, NM_001072.3:c.1453T>A, NM_001072.3:c.1453T>C, NM_001072.3:c.1453T>G, NM_001072.4:c.1453T>A, NM_001072.4:c.1453T>C, NM_001072.4:c.1453T>G, NM_019075.2:c.1447T>A, NM_019075.2:c.1447T>C, NM_019075.2:c.1447T>G, NM_019075.4:c.1447T>A, NM_019075.4:c.1447T>C, NM_019075.4:c.1447T>G, NM_019075.3:c.1447T>A, NM_019075.3:c.1447T>C, NM_019075.3:c.1447T>G, NM_021027.2:c.1447T>A, NM_021027.2:c.1447T>C, NM_021027.2:c.1447T>G, NM_021027.3:c.1447T>A, NM_021027.3:c.1447T>C, NM_021027.3:c.1447T>G, NM_007120.2:c.1459T>A, NM_007120.2:c.1459T>C, NM_007120.2:c.1459T>G, NM_007120.3:c.1459T>A, NM_007120.3:c.1459T>C, NM_007120.3:c.1459T>G, NM_000463.2:c.1456T>A, NM_000463.2:c.1456T>C, NM_000463.2:c.1456T>G, NM_000463.3:c.1456T>A, NM_000463.3:c.1456T>C, NM_000463.3:c.1456T>G, NM_019077.2:c.1447T>A, NM_019077.2:c.1447T>C, NM_019077.2:c.1447T>G, NM_019077.3:c.1447T>A, NM_019077.3:c.1447T>C, NM_019077.3:c.1447T>G, NM_019093.2:c.1459T>A, NM_019093.2:c.1459T>C, NM_019093.2:c.1459T>G, NM_019093.4:c.1459T>A, NM_019093.4:c.1459T>C, NM_019093.4:c.1459T>G, NM_019093.3:c.1459T>A, NM_019093.3:c.1459T>C, NM_019093.3:c.1459T>G, NM_019078.1:c.1459T>A, NM_019078.1:c.1459T>C, NM_019078.1:c.1459T>G, NM_019078.2:c.1459T>A, NM_019078.2:c.1459T>C, NM_019078.2:c.1459T>G, NM_205862.1:c.652T>A, NM_205862.1:c.652T>C, NM_205862.1:c.652T>G, NM_205862.3:c.652T>A, NM_205862.3:c.652T>C, NM_205862.3:c.652T>G, NM_205862.2:c.652T>A, NM_205862.2:c.652T>C, NM_205862.2:c.652T>G, NG_051337.1:g.1752T>A, NG_051337.1:g.1752T>C, NG_051337.1:g.1752T>G, NG_033238.1:g.17141T>A, NG_033238.1:g.17141T>C, NG_033238.1:g.17141T>G, NP_061949.3:p.Tyr483Asn, NP_061949.3:p.Tyr483His, NP_061949.3:p.Tyr483Asp, NP_001063.2:p.Tyr485Asn, NP_001063.2:p.Tyr485His, NP_001063.2:p.Tyr485Asp, NP_061948.1:p.Tyr483Asn, NP_061948.1:p.Tyr483His, NP_061948.1:p.Tyr483Asp, NP_066307.1:p.Tyr483Asn, NP_066307.1:p.Tyr483His, NP_066307.1:p.Tyr483Asp, NP_009051.1:p.Tyr487Asn, NP_009051.1:p.Tyr487His, NP_009051.1:p.Tyr487Asp, NP_000454.1:p.Tyr486Asn, NP_000454.1:p.Tyr486His, NP_000454.1:p.Tyr486Asp, NP_061950.2:p.Tyr483Asn, NP_061950.2:p.Tyr483His, NP_061950.2:p.Tyr483Asp, NP_061966.1:p.Tyr487Asn, NP_061966.1:p.Tyr487His, NP_061966.1:p.Tyr487Asp, NP_061951.1:p.Tyr487Asn, NP_061951.1:p.Tyr487His, NP_061951.1:p.Tyr487Asp, NP_995584.1:p.Tyr218Asn, NP_995584.1:p.Tyr218His, NP_995584.1:p.Tyr218Asp

PubMed LitVar

Select item 283995043.

rs28399504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 10:94762706 (GRCh38)
10:96522463 (GRCh37)
Canonical SPDI:: NC_000010.11:94762705:A:G,NC_000010.11:94762705:A:T
Gene:: CYP2C19 (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant
Clinical significance:: likely-benign,drug-response,other
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00319/863 (ALFA)
G=0./0 (Daghestan)
G=0./0 (HapMap)
G=0.000071/2 (TOMMO)
G=0.000546/1 (Korea1K)
G=0.000684/2 (KOREAN)
G=0.000781/4 (1000Genomes)
G=0.001557/6 (ALSPAC)
G=0.001667/1 (NorthernSweden)
G=0.001873/1 (MGP)
G=0.002009/9 (Estonian)
G=0.002157/8 (TWINSUK)
G=0.002467/653 (TOPMED)
G=0.004008/4 (GoNL)
HGVS:: NC_000010.11:g.94762706A>G, NC_000010.11:g.94762706A>T, NC_000010.10:g.96522463A>G, NC_000010.10:g.96522463A>T, NG_008384.3:g.5026A>G, NG_008384.3:g.5026A>T, NM_000769.4:c.1A>G, NM_000769.4:c.1A>T, NM_000769.3:c.1A>G, NM_000769.3:c.1A>T, NM_000769.2:c.1A>G, NM_000769.2:c.1A>T, NM_000769.1:c.1A>G, NM_000769.1:c.1A>T, NG_055436.1:g.2066A>G, NG_055436.1:g.2066A>T, NP_000760.1:p.Met1Val, NP_000760.1:p.Met1Leu

PubMed LitVar

Select item 283834794.

rs28383479 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99660516 (GRCh38)
7:99258139 (GRCh37)
Canonical SPDI:: NC_000007.14:99660515:C:T
Gene:: CYP3A5 (Varview), ZSCAN25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001119/8 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99660516C>T, NC_000007.13:g.99258139C>T, NG_007938.2:g.24483G>A, NM_000777.5:c.1009G>A, NM_000777.4:c.1009G>A, NM_000777.3:c.1009G>A, NR_033807.3:n.2713G>A, NR_033807.2:n.2743G>A, NR_033807.1:n.2715G>A, NM_001291829.2:c.670G>A, NM_001291829.1:c.670G>A, NM_001291830.2:c.979G>A, NM_001291830.1:c.979G>A, NR_033809.1:n.1371G>A, NR_033810.1:n.2696G>A, NR_033808.1:n.1611G>A, NR_033811.1:n.1360G>A, NR_033812.1:n.1252G>A, NP_000768.1:p.Ala337Thr, NP_001278758.1:p.Ala224Thr, NP_001278759.1:p.Ala327Thr

PubMed

Select item 283717175.

rs28371717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:42128308 (GRCh38)
22:42524310 (GRCh37)
Canonical SPDI:: NC_000022.11:42128307:C:A,NC_000022.11:42128307:C:G,NC_000022.11:42128307:C:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.011059/1476 (ALFA)
A=0.001667/1 (NorthernSweden)
A=0.002186/11 (1000Genomes)
A=0.003289/1 (FINRISK)
A=0.004673/1 (Qatari)
A=0.005618/3 (MGP)
A=0.006944/1838 (TOPMED)
A=0.00777/101 (GoESP)
A=0.008274/1150 (GnomAD)
A=0.011022/11 (GoNL)
A=0.012195/47 (ALSPAC)
A=0.012438/5 (HapMap)
A=0.013754/51 (TWINSUK)
A=0.025/1 (GENOME_DK)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.42128308C>A, NC_000022.11:g.42128308C>G, NC_000022.11:g.42128308C>T, NG_008376.4:g.7503G>T, NG_008376.4:g.7503G>C, NG_008376.4:g.7503G>A, NM_000106.6:c.709G>T, NM_000106.6:c.709G>C, NM_000106.6:c.709G>A, NM_000106.5:c.709G>T, NM_000106.5:c.709G>C, NM_000106.5:c.709G>A, NM_001025161.3:c.556G>T, NM_001025161.3:c.556G>C, NM_001025161.3:c.556G>A, NM_001025161.2:c.556G>T, NM_001025161.2:c.556G>C, NM_001025161.2:c.556G>A, NW_015148968.1:g.6049C>A, NW_015148968.1:g.6049C>G, NW_015148968.1:g.6049C>T, NW_014040931.1:g.21897C>A, NW_014040931.1:g.21897C>G, NW_014040931.1:g.21897C>T, NW_009646208.1:g.13874C>A, NW_009646208.1:g.13874C>G, NW_009646208.1:g.13874C>T, NW_004504305.1:g.50635C>A, NW_004504305.1:g.50635C>G, NW_004504305.1:g.50635C>T, NT_187682.1:g.50649C>A, NT_187682.1:g.50649C>G, NT_187682.1:g.50649C>T, NC_000022.10:g.42524310C>A, NC_000022.10:g.42524310C>G, NC_000022.10:g.42524310C>T, NP_000097.3:p.Ala237Ser, NP_000097.3:p.Ala237Pro, NP_000097.3:p.Ala237Thr, NP_001020332.2:p.Ala186Ser, NP_001020332.2:p.Ala186Pro, NP_001020332.2:p.Ala186Thr

PubMed LitVar

Select item 283717066.

rs28371706 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 22:42129770 (GRCh38)
22:42525772 (GRCh37)
Canonical SPDI:: NC_000022.11:42129769:G:A,NC_000022.11:42129769:G:C,NC_000022.11:42129769:G:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,drug-response,other
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.013061/636 (ALFA)
A=0.00266/3 (Daghestan)
A=0.047753/17 (PharmGKB)
A=0.056075/12 (Qatari)
A=0.058268/15423 (TOPMED)
A=0.058487/756 (GoESP)
A=0.062929/315 (1000Genomes)
G=0.4/12 (SGDP_PRJ)
HGVS:: NC_000022.11:g.42129770G>A, NC_000022.11:g.42129770G>C, NC_000022.11:g.42129770G>T, NG_008376.4:g.6041C>T, NG_008376.4:g.6041C>G, NG_008376.4:g.6041C>A, NM_000106.6:c.320C>T, NM_000106.6:c.320C>G, NM_000106.6:c.320C>A, NM_000106.5:c.320C>T, NM_000106.5:c.320C>G, NM_000106.5:c.320C>A, NM_001025161.3:c.320C>T, NM_001025161.3:c.320C>G, NM_001025161.3:c.320C>A, NM_001025161.2:c.320C>T, NM_001025161.2:c.320C>G, NM_001025161.2:c.320C>A, NW_015148968.1:g.7511G>A, NW_015148968.1:g.7511G>C, NW_015148968.1:g.7511G>T, NW_014040931.1:g.23359G>A, NW_014040931.1:g.23359G>C, NW_014040931.1:g.23359G>T, NW_009646208.1:g.15336G>A, NW_009646208.1:g.15336G>C, NW_009646208.1:g.15336G>T, NW_004504305.1:g.52097G>A, NW_004504305.1:g.52097G>C, NW_004504305.1:g.52097G>T, NT_187682.1:g.52111G>A, NT_187682.1:g.52111G>C, NT_187682.1:g.52111G>T, NC_000022.10:g.42525772G>A, NC_000022.10:g.42525772G>C, NC_000022.10:g.42525772G>T, NP_000097.3:p.Thr107Ile, NP_000097.3:p.Thr107Ser, NP_000097.3:p.Thr107Asn, NP_001020332.2:p.Thr107Ile, NP_001020332.2:p.Thr107Ser, NP_001020332.2:p.Thr107Asn

PubMed LitVar

Select item 283717047.

rs28371704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 22:42129809 (GRCh38)
22:42525811 (GRCh37)
Canonical SPDI:: NC_000022.11:42129808:T:A,NC_000022.11:42129808:T:C,NC_000022.11:42129808:T:G
Gene:: CYP2D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.101237/2259 (ALFA)
C=0.000355/6 (TOMMO)
C=0.001873/1 (MGP)
C=0.071518/358 (1000Genomes)
C=0.079439/17 (Qatari)
C=0.11562/12111 (ExAC)
C=0.12257/32443 (TOPMED)
C=0.125569/17377 (GnomAD)
C=0.185/111 (NorthernSweden)
T=0.461538/24 (SGDP_PRJ)
HGVS:: NC_000022.11:g.42129809T>A, NC_000022.11:g.42129809T>C, NC_000022.11:g.42129809T>G, NG_008376.4:g.6002A>T, NG_008376.4:g.6002A>G, NG_008376.4:g.6002A>C, NM_000106.6:c.281A>T, NM_000106.6:c.281A>G, NM_000106.6:c.281A>C, NM_000106.5:c.281A>T, NM_000106.5:c.281A>G, NM_000106.5:c.281A>C, NM_001025161.3:c.281A>T, NM_001025161.3:c.281A>G, NM_001025161.3:c.281A>C, NM_001025161.2:c.281A>T, NM_001025161.2:c.281A>G, NM_001025161.2:c.281A>C, NW_015148968.1:g.7550C>T, NW_015148968.1:g.7550C>A, NW_015148968.1:g.7550C>G, NW_014040931.1:g.23398T>A, NW_014040931.1:g.23398T>C, NW_014040931.1:g.23398T>G, NW_009646208.1:g.15375T>A, NW_009646208.1:g.15375T>C, NW_009646208.1:g.15375T>G, NW_004504305.1:g.52136T>A, NW_004504305.1:g.52136T>C, NW_004504305.1:g.52136T>G, NT_187682.1:g.52150T>A, NT_187682.1:g.52150T>C, NT_187682.1:g.52150T>G, NC_000022.10:g.42525811T>A, NC_000022.10:g.42525811T>C, NC_000022.10:g.42525811T>G, NP_000097.3:p.His94Leu, NP_000097.3:p.His94Arg, NP_000097.3:p.His94Pro, NP_001020332.2:p.His94Leu, NP_001020332.2:p.His94Arg, NP_001020332.2:p.His94Pro

PubMed LitVar

Select item 283650858.

rs28365085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99648351 (GRCh38)
7:99245974 (GRCh37)
Canonical SPDI:: NC_000007.14:99648350:A:G
Gene:: CYP3A5 (Varview), ZSCAN25 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00028/62 (ALFA)
G=0.000128/18 (GnomAD)
G=0.000302/80 (TOPMED)
G=0.000379/46 (ExAC)
G=0.000454/114 (GnomAD_exomes)
G=0.001016/80 (PAGE_STUDY)
G=0.001249/6 (1000Genomes)
G=0.005435/3 (PharmGKB)
G=0.007529/22 (KOREAN)
G=0.007595/6 (PRJEB37584)
G=0.011792/5 (HapMap)
G=0.012563/211 (TOMMO)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.99648351A>G, NC_000007.13:g.99245974A>G, NG_007938.2:g.36648T>C, NM_000777.5:c.1463T>C, NM_000777.4:c.1463T>C, NM_000777.3:c.1463T>C, NR_033807.3:n.3167T>C, NR_033807.2:n.3197T>C, NR_033807.1:n.3169T>C, NM_001291829.2:c.1124T>C, NM_001291829.1:c.1124T>C, NM_001291830.2:c.1433T>C, NM_001291830.1:c.1433T>C, NR_033809.1:n.1825T>C, NR_033808.1:n.2065T>C, NP_000768.1:p.Ile488Thr, NP_001278758.1:p.Ile375Thr, NP_001278759.1:p.Ile478Thr

PubMed LitVar

Select item 283650839.

rs28365083 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99652613 (GRCh38)
7:99250236 (GRCh37)
Canonical SPDI:: NC_000007.14:99652612:G:T
Gene:: CYP3A5 (Varview), ZSCAN25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.004713/1600 (ALFA)
T=0.00088/1 (Daghestan)
T=0.000937/5 (1000Genomes)
T=0.001347/106 (PAGE_STUDY)
T=0.001873/1 (MGP)
T=0.003004/795 (TOPMED)
T=0.003189/447 (GnomAD)
T=0.00325/817 (GnomAD_exomes)
T=0.003289/1 (FINRISK)
T=0.003333/2 (NorthernSweden)
T=0.00346/45 (GoESP)
T=0.003535/428 (ExAC)
T=0.003636/2 (PharmGKB)
T=0.004315/16 (TWINSUK)
T=0.004687/21 (Estonian)
T=0.005968/23 (ALSPAC)
T=0.006079/20 (PRJEB37766)
T=0.00885/2 (HapMap)
T=0.01002/10 (GoNL)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.99652613G>T, NC_000007.13:g.99250236G>T, NG_007938.2:g.32386C>A, NM_000777.5:c.1193C>A, NM_000777.4:c.1193C>A, NM_000777.3:c.1193C>A, NR_033807.3:n.2897C>A, NR_033807.2:n.2927C>A, NR_033807.1:n.2899C>A, NM_001291829.2:c.854C>A, NM_001291829.1:c.854C>A, NM_001291830.2:c.1163C>A, NM_001291830.1:c.1163C>A, NR_033809.1:n.1555C>A, NR_033808.1:n.1795C>A, NP_000768.1:p.Thr398Asn, NP_001278758.1:p.Thr285Asn, NP_001278759.1:p.Thr388Asn

PubMed LitVar

Select item 1177359710.

rs11773597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:99784828 (GRCh38)
7:99382451 (GRCh37)
Canonical SPDI:: NC_000007.14:99784827:G:C
Gene:: CYP3A4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.058043/1304 (ALFA)
C=0.008427/3 (PharmGKB)
C=0.009677/3 (HapMap)
C=0.026234/131 (1000Genomes)
C=0.041667/9 (Qatari)
C=0.04319/11432 (TOPMED)
C=0.047362/6640 (GnomAD)
C=0.061489/228 (TWINSUK)
C=0.066667/40 (NorthernSweden)
C=0.066943/258 (ALSPAC)
C=0.07014/70 (GoNL)
C=0.075/3 (GENOME_DK)
G=0.5/2 (Siberian)
G=0.5/9 (SGDP_PRJ)
HGVS:: NC_000007.14:g.99784828G>C, NC_000007.13:g.99382451G>C, NG_008421.1:g.4358C>G, NG_054901.1:g.797G>C

PubMed LitVar

Select item 928286111.

rs9282861 has merged into rs1042028 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:28606193 (GRCh38)
16:28617514 (GRCh37)
Canonical SPDI:: NC_000016.10:28606192:C:T
Gene:: SULT1A1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.316707/8197 (ALFA)
T=0.101093/185 (Korea1K)
T=0.104381/81 (PRJEB37584)
T=0.104866/306 (KOREAN)
T=0.132564/2222 (TOMMO)
T=0.182243/39 (Qatari)
T=0.220801/24614 (ExAC)
T=0.223702/46101 (GnomAD_exomes)
T=0.232042/1486 (1000Genomes)
T=0.240111/3120 (GoESP)
T=0.301518/41232 (GnomAD)
T=0.305611/305 (GoNL)
C=0.371681/84 (SGDP_PRJ)
T=0.372483/222 (NorthernSweden)
HGVS:: NC_000016.10:g.28606193C>T, NC_000016.9:g.28617514C>T, NG_028128.1:g.22353G>A, NM_177536.5:c.335G>A, NM_177536.4:c.404G>A, NM_177536.3:c.404G>A, NM_177534.4:c.638G>A, NM_177534.3:c.638G>A, NM_177534.2:c.638G>A, NM_177530.4:c.638G>A, NM_177530.3:c.638G>A, NM_177530.2:c.638G>A, NM_001055.4:c.638G>A, NM_001055.3:c.638G>A, NM_177529.3:c.638G>A, NM_177529.2:c.638G>A, NM_001394422.1:c.638G>A, NM_001394423.1:c.638G>A, NM_001394421.1:c.638G>A, NM_001394425.1:c.638G>A, NM_001394424.1:c.638G>A, XM_017023610.2:c.656G>A, XM_017023610.1:c.656G>A, XM_017023604.2:c.656G>A, XM_017023604.1:c.656G>A, XM_017023605.2:c.656G>A, XM_017023605.1:c.656G>A, XM_017023608.2:c.656G>A, XM_017023608.1:c.656G>A, XM_047434547.1:c.656G>A, XM_047434548.1:c.638G>A, XM_047434545.1:c.656G>A, XM_047434544.1:c.656G>A, XM_047434546.1:c.656G>A, XM_047434549.1:c.422G>A, XM_047434550.1:c.*79G>A, NP_803880.2:p.Arg112His, NP_803878.1:p.Arg213His, NP_803566.1:p.Arg213His, NP_001046.2:p.Arg213His, NP_803565.1:p.Arg213His, NP_001381351.1:p.Arg213His, NP_001381352.1:p.Arg213His, NP_001381350.1:p.Arg213His, NP_001381354.1:p.Arg213His, NP_001381353.1:p.Arg213His, XP_016879099.1:p.Arg219His, XP_016879093.1:p.Arg219His, XP_016879094.1:p.Arg219His, XP_016879097.1:p.Arg219His, XP_047290503.1:p.Arg219His, XP_047290504.1:p.Arg213His, XP_047290501.1:p.Arg219His, XP_047290500.1:p.Arg219His, XP_047290502.1:p.Arg219His, XP_047290505.1:p.Arg141His

PubMed

Select item 743936612.

rs7439366 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:69098620 (GRCh38)
4:69964338 (GRCh37)
Canonical SPDI:: NC_000004.12:69098619:T:C
Gene:: UGT2B7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.495272/25247 (ALFA)
C=0.082164/82 (GoNL)
C=0.178407/2320 (GoESP)
T=0.233333/112 (SGDP_PRJ)
T=0.284223/4764 (TOMMO)
T=0.31843/933 (KOREAN)
T=0.33024/605 (Korea1K)
T=0.333073/1668 (1000Genomes)
T=0.345395/105 (FINRISK)
T=0.404762/17 (Siberian)
T=0.409691/108441 (TOPMED)
C=0.421667/253 (NorthernSweden)
T=0.4262/59316 (GnomAD)
T=0.435699/108746 (GnomAD_exomes)
T=0.440308/53434 (ExAC)
C=0.442832/1983 (Estonian)
T=0.449074/97 (Qatari)
C=0.45122/1739 (ALSPAC)
C=0.451996/1676 (TWINSUK)
C=0.483146/258 (MGP)
C=0.498626/363 (PharmGKB)
HGVS:: NC_000004.12:g.69098620T>C, NC_000004.11:g.69964338T>C, NG_064652.1:g.281T>C, NM_001074.4:c.802T>C, NM_001074.3:c.802T>C, NM_001074.2:c.802T>C, NM_001330719.2:c.802T>C, NM_001330719.1:c.802T>C, NM_001349568.2:c.55T>C, NM_001349568.1:c.55T>C, NP_001065.2:p.Tyr268His, NP_001317648.1:p.Tyr268His, NP_001336497.1:p.Tyr19His

PubMed LitVar

Select item 641343213.

rs6413432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:133535040 (GRCh38)
10:135348544 (GRCh37)
Canonical SPDI:: NC_000010.11:133535039:T:A
Gene:: CYP2E1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: association
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.093753/1771 (ALFA)
A=0.017034/17 (GoNL)
A=0.041667/9 (Qatari)
A=0.08058/361 (Estonian)
A=0.092891/358 (ALSPAC)
A=0.097039/13563 (GnomAD)
A=0.098333/59 (NorthernSweden)
A=0.1/4 (GENOME_DK)
A=0.101167/26778 (TOPMED)
A=0.105448/391 (TWINSUK)
A=0.158182/792 (1000Genomes)
A=0.242904/445 (Korea1K)
A=0.263481/772 (KOREAN)
A=0.290856/4875 (TOMMO)
T=0.454545/60 (SGDP_PRJ)
T=0.5/3 (Siberian)
HGVS:: NC_000010.11:g.133535040T>A, NC_000010.10:g.135348544T>A, NG_008383.1:g.12678T>A

PubMed LitVar

Select item 503086714.

rs5030867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:42127856 (GRCh38)
22:42523858 (GRCh37)
Canonical SPDI:: NC_000022.11:42127855:T:G
Gene:: CYP2D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: likely-benign,other
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000606/31 (ALFA)
G=0.000273/38 (GnomAD)
G=0.000385/5 (GoESP)
G=0.000393/104 (TOPMED)
G=0.001295/325 (GnomAD_exomes)
G=0.001349/163 (ExAC)
G=0.001405/7 (1000Genomes)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000022.11:g.42127856T>G, NG_008376.4:g.7955A>C, NM_000106.6:c.971A>C, NM_000106.5:c.971A>C, NM_001025161.3:c.818A>C, NM_001025161.2:c.818A>C, NW_015148968.1:g.5597T>G, NW_014040931.1:g.21445T>G, NW_009646208.1:g.13422T>G, NW_004504305.1:g.50183T>G, NT_187682.1:g.50197T>G, NC_000022.10:g.42523858T>G, NP_000097.3:p.His324Pro, NP_001020332.2:p.His273Pro

PubMed LitVar

Select item 503086515.

rs5030865 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 22:42129033 (GRCh38)
22:42525035 (GRCh37)
Canonical SPDI:: NC_000022.11:42129032:C:A,NC_000022.11:42129032:C:G,NC_000022.11:42129032:C:T
Gene:: CYP2D6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained,intron_variant
Clinical significance:: likely-benign,drug-response,other
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000044/2 (ALFA)
A=0.000008/2 (TOPMED)
T=0.001718/9 (1000Genomes)
T=0.002485/42 (TOMMO)
T=0.00583/17 (KOREAN)
HGVS:: NC_000022.11:g.42129033C>A, NC_000022.11:g.42129033C>G, NC_000022.11:g.42129033C>T, NG_008376.4:g.6778G>T, NG_008376.4:g.6778G>C, NG_008376.4:g.6778G>A, NM_000106.6:c.505G>T, NM_000106.6:c.505G>C, NM_000106.6:c.505G>A, NM_000106.5:c.505G>T, NM_000106.5:c.505G>C, NM_000106.5:c.505G>A, NW_015148968.1:g.6774C>A, NW_015148968.1:g.6774C>G, NW_015148968.1:g.6774C>T, NW_014040931.1:g.22622C>A, NW_014040931.1:g.22622C>G, NW_014040931.1:g.22622C>T, NW_009646208.1:g.14599C>A, NW_009646208.1:g.14599C>G, NW_009646208.1:g.14599C>T, NW_004504305.1:g.51360C>A, NW_004504305.1:g.51360C>G, NW_004504305.1:g.51360C>T, NT_187682.1:g.51374C>A, NT_187682.1:g.51374C>G, NT_187682.1:g.51374C>T, NC_000022.10:g.42525035C>A, NC_000022.10:g.42525035C>G, NC_000022.10:g.42525035C>T, NP_000097.3:p.Gly169Ter, NP_000097.3:p.Gly169Arg, NP_000097.3:p.Gly169Arg

PubMed LitVar

Select item 503086316.

Error occurred: cannot get document summary

Select item 503076217.

Error occurred: cannot get document summary

Select item 498713818.

rs4987138 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:42143491 (GRCh38)
22:42539492 (GRCh37)
Canonical SPDI:: NC_000022.11:42143490:T:G
Gene:: CYP2D7 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.010907/300 (ALFA)
G=0.005111/914 (GnomAD_exomes)
G=0.007697/184 (ExAC)
G=0.009259/2 (Qatari)
G=0.010309/30 (KOREAN)
G=0.017751/18 (Korea1K)
G=0.025108/3518 (GnomAD)
G=0.026234/131 (1000Genomes)
G=0.026435/6997 (TOPMED)
G=0.033879/568 (TOMMO)
T=0.5/7 (SGDP_PRJ)
HGVS:: NC_000022.11:g.42143491T>G, NW_003315971.2:g.53684T>G, NT_187682.1:g.65831T>G, NC_000022.10:g.42539492T>G, NW_009646207.1:g.46293T>G, NW_014040931.1:g.64499T>G, NW_014040930.1:g.36056T>G, NW_009646208.1:g.42764T>G, NW_015148968.1:g.34888T>G, NR_002570.6:n.291A>C, NR_002570.5:n.291A>C, NR_002570.4:n.383A>C, NR_002570.3:n.383A>C, NR_002570.2:n.382A>C, NR_145674.3:n.291A>C, NR_145674.2:n.291A>C, NR_145674.1:n.383A>C, NM_001348386.2:c.271A>C, NM_001348386.3:c.271A>C, NM_001348386.1:c.271A>C, NM_001002910.1:c.271A>C

PubMed LitVar

Select item 498694019.

rs4986940 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:35076520 (GRCh38)
9:35076517 (GRCh37)
Canonical SPDI:: NC_000009.12:35076519:G:A
Gene:: FANCG (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000915/257 (ALFA)
A=0.001002/1 (GoNL)
A=0.001491/375 (GnomAD_exomes)
A=0.001787/217 (ExAC)
A=0.001873/1 (MGP)
A=0.00463/1 (Qatari)
A=0.004685/23 (1000Genomes)
A=0.006696/939 (GnomAD)
A=0.006997/91 (GoESP)
A=0.007575/2005 (TOPMED)
A=0.010559/831 (PAGE_STUDY)
A=0.015075/12 (HapMap)
HGVS:: NC_000009.12:g.35076520G>A, NC_000009.11:g.35076517G>A, NG_007887.1:g.1223C>T, NG_007312.1:g.8497C>T, NM_004629.2:c.988C>T, NM_004629.1:c.988C>T, NP_004620.1:p.Pro330Ser

PubMed LitVar

Select item 498689320.

rs4986893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:94780653 (GRCh38)
10:96540410 (GRCh37)
Canonical SPDI:: NC_000010.11:94780652:G:A
Gene:: CYP2C19 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Clinical significance:: benign,other,drug-response
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.007566/2523 (ALFA)
A=0.000519/2 (ALSPAC)
A=0.000539/2 (TWINSUK)
A=0.00067/3 (Estonian)
A=0.001491/209 (GnomAD)
A=0.00182/6 (PRJEB37766)
A=0.002671/707 (TOPMED)
A=0.005379/1351 (GnomAD_exomes)
A=0.005507/667 (ExAC)
A=0.009752/11 (Daghestan)
A=0.013117/66 (1000Genomes)
A=0.013443/1058 (PAGE_STUDY)
A=0.013889/3 (Qatari)
A=0.032573/20 (Vietnamese)
A=0.042135/15 (PharmGKB)
A=0.092795/170 (Korea1K)
A=0.09822/287 (KOREAN)
A=0.132564/2222 (TOMMO)
G=0.475/19 (SGDP_PRJ)
G=0.5/1 (Siberian)
HGVS:: NC_000010.11:g.94780653G>A, NC_000010.10:g.96540410G>A, NG_008384.3:g.22973G>A, NM_000769.4:c.636G>A, NM_000769.3:c.636G>A, NM_000769.2:c.636G>A, NM_000769.1:c.636G>A, NP_000760.1:p.Trp212Ter

PubMed LitVar

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