SLC25A10 - SNP

Search results

Items: 1 to 20 of 5342

<< First< Prev

Page of 268

Next >Last >>

Select item 111508131.

rs11150813 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81720188 (GRCh38)
17:79687218 (GRCh37)
Canonical SPDI:: NC_000017.11:81720187:G:A,NC_000017.11:81720187:G:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.379531/6868 (ALFA)
A=0.275/11 (GENOME_DK)
A=0.29/174 (NorthernSweden)
A=0.31942/1431 (Estonian)
A=0.362725/362 (GoNL)
G=0.364706/124 (SGDP_PRJ)
A=0.383765/1423 (TWINSUK)
A=0.384563/1126 (KOREAN)
A=0.392467/719 (Korea1K)
A=0.393358/1516 (ALSPAC)
G=0.4/8 (Siberian)
A=0.40652/6811 (TOMMO)
A=0.407646/57037 (GnomAD)
A=0.411618/2061 (1000Genomes)
A=0.412037/89 (Qatari)
A=0.418293/110718 (TOPMED)
A=0.457547/97 (Vietnamese)
HGVS:: NC_000017.11:g.81720188G>A, NC_000017.11:g.81720188G>T, NC_000017.10:g.79687218G>A, NC_000017.10:g.79687218G>T, NM_012140.5:c.*111G>A, NM_012140.5:c.*111G>T, NM_012140.4:c.*111G>A, NM_012140.4:c.*111G>T, NM_001270888.2:c.*111G>A, NM_001270888.2:c.*111G>T, NM_001270888.1:c.*111G>A, NM_001270888.1:c.*111G>T, NM_001270953.2:c.892G>A, NM_001270953.2:c.892G>T, NM_001270953.1:c.892G>A, NM_001270953.1:c.892G>T, XM_047435432.1:c.*111G>A, XM_047435432.1:c.*111G>T, NP_001257882.1:p.Val298Ile, NP_001257882.1:p.Val298Phe

Select item 740061082.

rs74006108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81720313 (GRCh38)
17:79687343 (GRCh37)
Canonical SPDI:: NC_000017.11:81720312:G:A,NC_000017.11:81720312:G:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000142/2 (TOMMO)
A=0.014678/74 (1000Genomes)
A=0.016184/2270 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81720313G>A, NC_000017.11:g.81720313G>T, NC_000017.10:g.79687343G>A, NC_000017.10:g.79687343G>T, NM_012140.5:c.*236G>A, NM_012140.5:c.*236G>T, NM_012140.4:c.*236G>A, NM_012140.4:c.*236G>T, NM_001270888.2:c.*236G>A, NM_001270888.2:c.*236G>T, NM_001270888.1:c.*236G>A, NM_001270888.1:c.*236G>T, NM_001270953.2:c.1017G>A, NM_001270953.2:c.1017G>T, NM_001270953.1:c.1017G>A, NM_001270953.1:c.1017G>T, XM_047435432.1:c.*236G>A, XM_047435432.1:c.*236G>T

Select item 758721063.

rs75872106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81715736 (GRCh38)
17:79682766 (GRCh37)
Canonical SPDI:: NC_000017.11:81715735:C:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002233/100 (ALFA)
T=0.00232/580 (GnomAD_exomes)
T=0.002953/355 (ExAC)
T=0.009259/2 (Qatari)
T=0.009672/2560 (TOPMED)
T=0.009695/1360 (GnomAD)
T=0.009765/127 (GoESP)
T=0.010306/52 (1000Genomes)
C=0.333333/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81715736C>T, NC_000017.10:g.79682766C>T, NM_012140.5:c.372C>T, NM_012140.4:c.372C>T, NM_001270888.2:c.372C>T, NM_001270888.1:c.372C>T, NM_001270953.2:c.372C>T, NM_001270953.1:c.372C>T, XM_047435432.1:c.243C>T, XM_047435431.1:c.372C>T

Select item 1146216644.

rs114621664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81717813 (GRCh38)
17:79684843 (GRCh37)
Canonical SPDI:: NC_000017.11:81717812:C:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,likely-pathogenic,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001064/53 (ALFA)
T=0.000223/1 (Estonian)
T=0.000259/1 (ALSPAC)
T=0.000461/6 (GoESP)
T=0.000809/3 (TWINSUK)
T=0.000913/128 (GnomAD)
T=0.001261/313 (GnomAD_exomes)
T=0.001434/146 (ExAC)
T=0.001526/404 (TOPMED)
T=0.00203/10 (1000Genomes)
T=0.002429/191 (PAGE_STUDY)
T=0.003006/3 (GoNL)
T=0.003745/2 (MGP)
T=0.009259/2 (Qatari)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81717813C>T, NC_000017.10:g.79684843C>T, NM_012140.5:c.657C>T, NM_012140.4:c.657C>T, NM_001270888.2:c.684C>T, NM_001270888.1:c.684C>T, NM_001270953.2:c.574C>T, NM_001270953.1:c.574C>T, XM_047435432.1:c.528C>T, XM_047435431.1:c.657C>T, NP_001257882.1:p.Pro192Ser

Select item 1405054345.

rs140505434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81716850 (GRCh38)
17:79683880 (GRCh37)
Canonical SPDI:: NC_000017.11:81716849:G:A,NC_000017.11:81716849:G:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000815/109 (ALFA)
A=0.000127/10 (PAGE_STUDY)
A=0.000308/4 (GoESP)
A=0.000378/100 (TOPMED)
A=0.000682/61 (ExAC)
A=0.000754/183 (GnomAD_exomes)
HGVS:: NC_000017.11:g.81716850G>A, NC_000017.11:g.81716850G>T, NC_000017.10:g.79683880G>A, NC_000017.10:g.79683880G>T, NM_012140.5:c.458G>A, NM_012140.5:c.458G>T, NM_012140.4:c.458G>A, NM_012140.4:c.458G>T, NM_001270888.2:c.458G>A, NM_001270888.2:c.458G>T, NM_001270888.1:c.458G>A, NM_001270888.1:c.458G>T, NM_001270953.2:c.458G>A, NM_001270953.2:c.458G>T, NM_001270953.1:c.458G>A, NM_001270953.1:c.458G>T, XM_047435432.1:c.329G>A, XM_047435432.1:c.329G>T, XM_047435431.1:c.458G>A, XM_047435431.1:c.458G>T, NP_036272.2:p.Arg153His, NP_036272.2:p.Arg153Leu, NP_001257817.1:p.Arg153His, NP_001257817.1:p.Arg153Leu, NP_001257882.1:p.Arg153His, NP_001257882.1:p.Arg153Leu, XP_047291388.1:p.Arg110His, XP_047291388.1:p.Arg110Leu, XP_047291387.1:p.Arg153His, XP_047291387.1:p.Arg153Leu

Select item 1922590676.

rs192259067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81720115 (GRCh38)
17:79687145 (GRCh37)
Canonical SPDI:: NC_000017.11:81720114:G:A
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Clinical significance:: benign-likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.005703/159 (ALFA)
A=0.000035/1 (TOMMO)
A=0.00203/10 (1000Genomes)
A=0.00459/1215 (TOPMED)
A=0.004599/1127 (GnomAD_exomes)
A=0.004648/549 (ExAC)
A=0.005047/708 (GnomAD)
A=0.005155/67 (GoESP)
A=0.005357/24 (Estonian)
A=0.005708/22 (ALSPAC)
A=0.006667/4 (NorthernSweden)
A=0.008091/30 (TWINSUK)
A=0.01503/15 (GoNL)
G=0.5/1 (SGDP_PRJ)
G=0.5/3 (Siberian)
HGVS:: NC_000017.11:g.81720115G>A, NC_000017.10:g.79687145G>A, NM_012140.5:c.*38G>A, NM_012140.4:c.*38G>A, NM_001270888.2:c.*38G>A, NM_001270888.1:c.*38G>A, NM_001270953.2:c.819G>A, NM_001270953.1:c.819G>A, XM_047435432.1:c.*38G>A

Select item 2007067427.

rs200706742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:81719939 (GRCh38)
17:79686969 (GRCh37)
Canonical SPDI:: NC_000017.11:81719938:G:A
Gene:: SLC25A10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: likely-pathogenic,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00122/34 (ALFA)
A=0.000223/1 (Estonian)
A=0.000259/1 (ALSPAC)
A=0.000384/5 (GoESP)
A=0.000528/74 (GnomAD)
A=0.000733/194 (TOPMED)
A=0.000809/3 (TWINSUK)
A=0.001083/131 (ExAC)
A=0.001136/285 (GnomAD_exomes)
A=0.001249/6 (1000Genomes)
A=0.002004/2 (GoNL)
A=0.003745/2 (MGP)
A=0.009259/2 (Qatari)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81719939G>A, NC_000017.10:g.79686969G>A

Select item 3707780208.

rs370778020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:81720105 (GRCh38)
17:79687135 (GRCh37)
Canonical SPDI:: NC_000017.11:81720104:G:A,NC_000017.11:81720104:G:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001688/47 (ALFA)
A=0.000781/4 (1000Genomes)
A=0.001/13 (GoESP)
A=0.001116/5 (Estonian)
A=0.001232/146 (ExAC)
A=0.001356/359 (TOPMED)
A=0.001362/191 (GnomAD)
A=0.001418/351 (GnomAD_exomes)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000017.11:g.81720105G>A, NC_000017.11:g.81720105G>T, NC_000017.10:g.79687135G>A, NC_000017.10:g.79687135G>T, NM_012140.5:c.*28G>A, NM_012140.5:c.*28G>T, NM_012140.4:c.*28G>A, NM_012140.4:c.*28G>T, NM_001270888.2:c.*28G>A, NM_001270888.2:c.*28G>T, NM_001270888.1:c.*28G>A, NM_001270888.1:c.*28G>T, NM_001270953.2:c.809G>A, NM_001270953.2:c.809G>T, NM_001270953.1:c.809G>A, NM_001270953.1:c.809G>T, XM_047435432.1:c.*28G>A, XM_047435432.1:c.*28G>T, NP_001257882.1:p.Arg270Lys, NP_001257882.1:p.Arg270Met

Select item 15557032729.

rs1555703272 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:81715568 (GRCh38)
17:79682598 (GRCh37)
Canonical SPDI:: NC_000017.11:81715567:A:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Clinical significance:: likely-pathogenic
HGVS:: NC_000017.11:g.81715568A>T, NC_000017.10:g.79682598A>T, NM_012140.5:c.304A>T, NM_012140.4:c.304A>T, NM_001270888.2:c.304A>T, NM_001270888.1:c.304A>T, NM_001270953.2:c.304A>T, NM_001270953.1:c.304A>T, XM_047435432.1:c.175A>T, XM_047435431.1:c.304A>T, NP_036272.2:p.Lys102Ter, NP_001257817.1:p.Lys102Ter, NP_001257882.1:p.Lys102Ter, XP_047291388.1:p.Lys59Ter, XP_047291387.1:p.Lys102Ter

Select item 1391210.

rs13912 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81720863 (GRCh38)
17:79687893 (GRCh37)
Canonical SPDI:: NC_000017.11:81720862:C:G,NC_000017.11:81720862:C:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.427268/66647 (ALFA)
C=0.25/12 (Siberian)
C=0.276744/119 (SGDP_PRJ)
T=0.318182/14 (PRJEB36033)
C=0.407104/1192 (KOREAN)
C=0.407751/747 (Korea1K)
C=0.425/17 (GENOME_DK)
T=0.433387/1607 (TWINSUK)
T=0.433835/1672 (ALSPAC)
C=0.434761/7283 (TOMMO)
T=0.450902/450 (GoNL)
T=0.454361/63656 (GnomAD)
T=0.459186/121542 (TOPMED)
C=0.472222/102 (Qatari)
C=0.474038/986 (HGDP_Stanford)
C=0.481132/102 (Vietnamese)
C=0.488913/2448 (1000Genomes)
C=0.490323/912 (HapMap)
T=0.491071/2200 (Estonian)
C=0.495/297 (NorthernSweden)
HGVS:: NC_000017.11:g.81720863C>G, NC_000017.11:g.81720863C>T, NC_000017.10:g.79687893C>G, NC_000017.10:g.79687893C>T, NM_012140.5:c.*786C>G, NM_012140.5:c.*786C>T, NM_012140.4:c.*786C>G, NM_012140.4:c.*786C>T, NM_001270888.2:c.*786C>G, NM_001270888.2:c.*786C>T, NM_001270888.1:c.*786C>G, NM_001270888.1:c.*786C>T, NM_001270953.2:c.*346C>G, NM_001270953.2:c.*346C>T, NM_001270953.1:c.*346C>G, NM_001270953.1:c.*346C>T, XM_047435432.1:c.*786C>G, XM_047435432.1:c.*786C>T

Select item 112992011.

rs1129920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81720822 (GRCh38)
17:79687852 (GRCh37)
Canonical SPDI:: NC_000017.11:81720821:G:A,NC_000017.11:81720821:G:C
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.023624/431 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000061/1 (TOMMO)
A=0.027036/79 (KOREAN)
G=0.5/3 (Siberian)
HGVS:: NC_000017.11:g.81720822G>A, NC_000017.11:g.81720822G>C, NC_000017.10:g.79687852G>A, NC_000017.10:g.79687852G>C, NM_012140.5:c.*745G>A, NM_012140.5:c.*745G>C, NM_012140.4:c.*745G>A, NM_012140.4:c.*745G>C, NM_001270888.2:c.*745G>A, NM_001270888.2:c.*745G>C, NM_001270888.1:c.*745G>A, NM_001270888.1:c.*745G>C, NM_001270953.2:c.*305G>A, NM_001270953.2:c.*305G>C, NM_001270953.1:c.*305G>A, NM_001270953.1:c.*305G>C, XM_047435432.1:c.*745G>A, XM_047435432.1:c.*745G>C

Select item 112992112.

rs1129921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:81720830 (GRCh38)
17:79687860 (GRCh37)
Canonical SPDI:: NC_000017.11:81720829:G:A,NC_000017.11:81720829:G:C
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.06655/1372 (ALFA)
A=0.000071/1 (TOMMO)
A=0.05/2 (GENOME_DK)
A=0.075/45 (NorthernSweden)
A=0.089944/450 (1000Genomes)
A=0.094196/422 (Estonian)
A=0.111222/111 (GoNL)
A=0.12037/26 (Qatari)
A=0.12342/32668 (TOPMED)
A=0.13259/511 (ALSPAC)
A=0.136192/505 (TWINSUK)
G=0.4625/37 (SGDP_PRJ)
G=0.5/2 (Siberian)
HGVS:: NC_000017.11:g.81720830G>A, NC_000017.11:g.81720830G>C, NC_000017.10:g.79687860G>A, NC_000017.10:g.79687860G>C, NM_012140.5:c.*753G>A, NM_012140.5:c.*753G>C, NM_012140.4:c.*753G>A, NM_012140.4:c.*753G>C, NM_001270888.2:c.*753G>A, NM_001270888.2:c.*753G>C, NM_001270888.1:c.*753G>A, NM_001270888.1:c.*753G>C, NM_001270953.2:c.*313G>A, NM_001270953.2:c.*313G>C, NM_001270953.1:c.*313G>A, NM_001270953.1:c.*313G>C, XM_047435432.1:c.*753G>A, XM_047435432.1:c.*753G>C

Select item 112993613.

rs1129936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81720949 (GRCh38)
17:79687979 (GRCh37)
Canonical SPDI:: NC_000017.11:81720948:A:C
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.00007/2 (TOMMO)
HGVS:: NC_000017.11:g.81720949A>C, NC_000017.10:g.79687979A>C, NM_012140.5:c.*872A>C, NM_012140.4:c.*872A>C, NM_001270888.2:c.*872A>C, NM_001270888.1:c.*872A>C, NM_001270953.2:c.*432A>C, NM_001270953.1:c.*432A>C, XM_047435432.1:c.*872A>C

Select item 112993814.

rs1129938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:81720954 (GRCh38)
17:79687984 (GRCh37)
Canonical SPDI:: NC_000017.11:81720953:A:C
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.81720954A>C, NC_000017.10:g.79687984A>C, NM_012140.5:c.*877A>C, NM_012140.4:c.*877A>C, NM_001270888.2:c.*877A>C, NM_001270888.1:c.*877A>C, NM_001270953.2:c.*437A>C, NM_001270953.1:c.*437A>C, XM_047435432.1:c.*877A>C

Select item 207270015.

rs2072700 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:81715528 (GRCh38)
17:79682558 (GRCh37)
Canonical SPDI:: NC_000017.11:81715527:T:C
Gene:: SLC25A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.411774/32820 (ALFA)
C=0.168539/90 (MGP)
C=0.3/12 (GENOME_DK)
C=0.308333/185 (NorthernSweden)
C=0.318304/1426 (Estonian)
C=0.322368/98 (FINRISK)
T=0.363372/125 (SGDP_PRJ)
C=0.373747/373 (GoNL)
C=0.385509/1128 (KOREAN)
C=0.390969/710 (Korea1K)
C=0.393474/1459 (TWINSUK)
C=0.39821/48052 (ExAC)
T=0.4/8 (Siberian)
C=0.40056/100438 (GnomAD_exomes)
C=0.405812/1564 (ALSPAC)
C=0.406863/249 (Vietnamese)
C=0.40783/6833 (TOMMO)
C=0.421986/59062 (GnomAD)
C=0.427389/2140 (1000Genomes)
C=0.431339/5610 (GoESP)
C=0.434006/114877 (TOPMED)
C=0.439815/95 (Qatari)
HGVS:: NC_000017.11:g.81715528T>C, NC_000017.10:g.79682558T>C, NM_012140.5:c.264T>C, NM_012140.4:c.264T>C, NM_001270888.2:c.264T>C, NM_001270888.1:c.264T>C, NM_001270953.2:c.264T>C, NM_001270953.1:c.264T>C, XM_047435432.1:c.135T>C, XM_047435431.1:c.264T>C

Select item 318822916.

rs3188229 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81720780 (GRCh38)
17:79687810 (GRCh37)
Canonical SPDI:: NC_000017.11:81720779:C:G,NC_000017.11:81720779:C:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000017.11:g.81720780C>G, NC_000017.11:g.81720780C>T, NC_000017.10:g.79687810C>G, NC_000017.10:g.79687810C>T, NM_012140.5:c.*703C>G, NM_012140.5:c.*703C>T, NM_012140.4:c.*703C>G, NM_012140.4:c.*703C>T, NM_001270888.2:c.*703C>G, NM_001270888.2:c.*703C>T, NM_001270888.1:c.*703C>G, NM_001270888.1:c.*703C>T, NM_001270953.2:c.*263C>G, NM_001270953.2:c.*263C>T, NM_001270953.1:c.*263C>G, NM_001270953.1:c.*263C>T, XM_047435432.1:c.*703C>G, XM_047435432.1:c.*703C>T

Select item 320427017.

rs3204270 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:81715021 (GRCh38)
17:79682051 (GRCh37)
Canonical SPDI:: NC_000017.11:81715020:C:G,NC_000017.11:81715020:C:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.090154/7433 (ALFA)
T=0.039509/3061 (PAGE_STUDY)
T=0.040287/202 (1000Genomes)
T=0.051416/69 (HapMap)
T=0.063333/38 (NorthernSweden)
T=0.06672/17660 (TOPMED)
T=0.069444/15 (Qatari)
T=0.073333/10286 (GnomAD)
T=0.075284/18398 (GnomAD_exomes)
T=0.075958/987 (GoESP)
T=0.076747/8929 (ExAC)
T=0.08016/80 (GoNL)
T=0.086607/388 (Estonian)
T=0.093633/50 (MGP)
T=0.10383/385 (TWINSUK)
T=0.103834/65 (Chileans)
T=0.106383/30 (FINRISK)
T=0.10768/415 (ALSPAC)
C=0.5/15 (SGDP_PRJ)
C=0.5/2 (Siberian)
HGVS:: NC_000017.11:g.81715021C>G, NC_000017.11:g.81715021C>T, NC_000017.10:g.79682051C>G, NC_000017.10:g.79682051C>T, NM_012140.5:c.162C>G, NM_012140.5:c.162C>T, NM_012140.4:c.162C>G, NM_012140.4:c.162C>T, NM_001270888.2:c.162C>G, NM_001270888.2:c.162C>T, NM_001270888.1:c.162C>G, NM_001270888.1:c.162C>T, NM_001270953.2:c.162C>G, NM_001270953.2:c.162C>T, NM_001270953.1:c.162C>G, NM_001270953.1:c.162C>T, XM_047435432.1:c.33C>G, XM_047435432.1:c.33C>T, XM_047435431.1:c.162C>G, XM_047435431.1:c.162C>T

Select item 321029918.

rs3210299 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:81717427 (GRCh38)
17:79684457 (GRCh37)
Canonical SPDI:: NC_000017.11:81717426:T:C,NC_000017.11:81717426:T:G
Gene:: SLC25A10 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.81717427T>C, NC_000017.11:g.81717427T>G, NC_000017.10:g.79684457T>C, NC_000017.10:g.79684457T>G, NM_012140.5:c.563T>C, NM_012140.5:c.563T>G, NM_012140.4:c.563T>C, NM_012140.4:c.563T>G, NM_001270888.2:c.563T>C, NM_001270888.2:c.563T>G, NM_001270888.1:c.563T>C, NM_001270888.1:c.563T>G, XM_047435432.1:c.434T>C, XM_047435432.1:c.434T>G, XM_047435431.1:c.563T>C, XM_047435431.1:c.563T>G, NP_036272.2:p.Leu188Pro, NP_036272.2:p.Leu188Arg, NP_001257817.1:p.Leu188Pro, NP_001257817.1:p.Leu188Arg, XP_047291388.1:p.Leu145Pro, XP_047291388.1:p.Leu145Arg, XP_047291387.1:p.Leu188Pro, XP_047291387.1:p.Leu188Arg

Select item 392380119.

rs3923801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:81714358 (GRCh38)
17:79681388 (GRCh37)
Canonical SPDI:: NC_000017.11:81714357:G:C
Gene:: SLC25A10 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.81714358G>C, NC_000017.10:g.79681388G>C

Select item 392380220.

rs3923802 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:81714359 (GRCh38)
17:79681389 (GRCh37)
Canonical SPDI:: NC_000017.11:81714358:C:T
Gene:: SLC25A10 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000017.11:g.81714359C>T, NC_000017.10:g.79681389C>T

<< First< Prev

Page of 268

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 5342

Display Settings:

Send to:

Supplemental Content

Find related data

Search details

Recent activity