ZNF782 - SNP

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Select item 1460589641.

rs146058964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:96819061 (GRCh38)
9:99581343 (GRCh37)
Canonical SPDI:: NC_000009.12:96819060:C:A,NC_000009.12:96819060:C:T
Gene:: ZNF782 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006724/1369 (ALFA)
T=0.002342/12 (1000Genomes)
T=0.003289/1 (FINRISK)
T=0.003333/2 (NorthernSweden)
T=0.003571/16 (Estonian)
T=0.003977/313 (PAGE_STUDY)
T=0.004854/589 (ExAC)
T=0.005508/1458 (TOPMED)
T=0.005767/75 (GoESP)
T=0.006746/26 (ALSPAC)
T=0.007014/7 (GoNL)
T=0.007491/4 (MGP)
T=0.008091/30 (TWINSUK)
T=0.023148/5 (Qatari)
C=0.5/4 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96819061C>A, NC_000009.12:g.96819061C>T, NC_000009.11:g.99581343C>A, NC_000009.11:g.99581343C>T, XM_011518318.4:c.962G>T, XM_011518318.4:c.962G>A, XM_011518318.3:c.962G>T, XM_011518318.3:c.962G>A, XM_011518318.2:c.962G>T, XM_011518318.2:c.962G>A, XM_011518318.1:c.962G>T, XM_011518318.1:c.962G>A, XM_017014343.3:c.944G>T, XM_017014343.3:c.944G>A, XM_017014343.2:c.944G>T, XM_017014343.2:c.944G>A, XM_017014343.1:c.944G>T, XM_017014343.1:c.944G>A, XR_001746208.3:n.2668G>T, XR_001746208.3:n.2668G>A, XR_001746208.2:n.1191G>T, XR_001746208.2:n.1191G>A, XR_001746208.1:n.2648G>T, XR_001746208.1:n.2648G>A, NM_001001662.3:c.962G>T, NM_001001662.3:c.962G>A, NM_001001662.2:c.962G>T, NM_001001662.2:c.962G>A, NM_001001662.1:c.962G>T, NM_001001662.1:c.962G>A, XM_011518320.3:c.944G>T, XM_011518320.3:c.944G>A, XM_011518320.2:c.944G>T, XM_011518320.2:c.944G>A, XM_011518320.1:c.944G>T, XM_011518320.1:c.944G>A, XM_011518315.3:c.962G>T, XM_011518315.3:c.962G>A, XM_011518315.2:c.962G>T, XM_011518315.2:c.962G>A, XM_011518315.1:c.962G>T, XM_011518315.1:c.962G>A, XM_024447431.2:c.566G>T, XM_024447431.2:c.566G>A, XM_024447431.1:c.566G>T, XM_024447431.1:c.566G>A, NM_001346991.2:c.962G>T, NM_001346991.2:c.962G>A, NM_001346991.1:c.962G>T, NM_001346991.1:c.962G>A, NM_001346993.2:c.890G>T, NM_001346993.2:c.890G>A, NM_001346993.1:c.890G>T, NM_001346993.1:c.890G>A, NM_001346995.2:c.566G>T, NM_001346995.2:c.566G>A, NM_001346995.1:c.566G>T, NM_001346995.1:c.566G>A, XM_047422873.1:c.566G>T, XM_047422873.1:c.566G>A, XM_047422871.1:c.944G>T, XM_047422871.1:c.944G>A, XM_047422870.1:c.962G>T, XM_047422870.1:c.962G>A, XM_047422872.1:c.944G>T, XM_047422872.1:c.944G>A, XR_007061253.1:n.1650G>T, XR_007061253.1:n.1650G>A, XR_007061254.1:n.1595G>T, XR_007061254.1:n.1595G>A, XR_007061255.1:n.1433G>T, XR_007061255.1:n.1433G>A, XR_007061256.1:n.1415G>T, XR_007061256.1:n.1415G>A, XM_047422874.1:c.566G>T, XM_047422874.1:c.566G>A, XP_011516620.1:p.Arg321Leu, XP_011516620.1:p.Arg321His, XP_016869832.1:p.Arg315Leu, XP_016869832.1:p.Arg315His, NP_001001662.1:p.Arg321Leu, NP_001001662.1:p.Arg321His, XP_011516622.1:p.Arg315Leu, XP_011516622.1:p.Arg315His, XP_011516617.1:p.Arg321Leu, XP_011516617.1:p.Arg321His, XP_024303199.1:p.Arg189Leu, XP_024303199.1:p.Arg189His, NP_001333920.1:p.Arg321Leu, NP_001333920.1:p.Arg321His, NP_001333922.1:p.Arg297Leu, NP_001333922.1:p.Arg297His, NP_001333924.1:p.Arg189Leu, NP_001333924.1:p.Arg189His, XP_047278829.1:p.Arg189Leu, XP_047278829.1:p.Arg189His, XP_047278827.1:p.Arg315Leu, XP_047278827.1:p.Arg315His, XP_047278826.1:p.Arg321Leu, XP_047278826.1:p.Arg321His, XP_047278828.1:p.Arg315Leu, XP_047278828.1:p.Arg315His, XP_047278830.1:p.Arg189Leu, XP_047278830.1:p.Arg189His

Select item 144792.

rs14479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:96888521 (GRCh38)
9:99650803 (GRCh37)
Canonical SPDI:: NC_000009.12:96888520:A:C
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.022191/320 (ALFA)
C=0./0 (ALSPAC)
C=0.00027/1 (TWINSUK)
C=0.027778/6 (Qatari)
C=0.030829/4323 (GnomAD)
C=0.032604/8630 (TOPMED)
C=0.03732/187 (1000Genomes)
C=0.051829/17 (HapMap)
A=0.5/6 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96888521A>C, NC_000009.11:g.99650803A>C

Select item 9133523.

rs913352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:96909668 (GRCh38)
9:99671950 (GRCh37)
Canonical SPDI:: NC_000009.12:96909667:A:G,NC_000009.12:96909667:A:T
Gene:: ZNF782 (Varview), PTMAP11 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000015/4 (TOPMED)
T=0.0002/1 (1000Genomes)
HGVS:: NC_000009.12:g.96909668A>G, NC_000009.12:g.96909668A>T, NC_000009.11:g.99671950A>G, NC_000009.11:g.99671950A>T, NR_028350.1:n.594A>G, NR_028350.1:n.594A>T

Select item 10467944.

rs1046794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:96893253 (GRCh38)
9:99655535 (GRCh37)
Canonical SPDI:: NC_000009.12:96893252:G:C,NC_000009.12:96893252:G:T
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02042/416 (ALFA)
T=0.000035/1 (TOMMO)
T=0.001563/7 (Estonian)
T=0.003195/2 (Chileans)
T=0.004008/4 (GoNL)
T=0.004315/16 (TWINSUK)
T=0.006227/24 (ALSPAC)
T=0.055556/12 (Qatari)
T=0.089157/23599 (TOPMED)
T=0.102748/515 (1000Genomes)
T=0.143642/183 (HapMap)
G=0.397059/27 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96893253G>C, NC_000009.12:g.96893253G>T, NC_000009.11:g.99655535G>C, NC_000009.11:g.99655535G>T

Select item 10467955.

rs1046795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:96893076 (GRCh38)
9:99655358 (GRCh37)
Canonical SPDI:: NC_000009.12:96893075:C:T
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.016164/3987 (ALFA)
T=0./0 (PRJEB36033)
T=0.000035/1 (TOMMO)
T=0.001563/7 (Estonian)
T=0.003195/2 (Chileans)
T=0.004008/4 (GoNL)
T=0.004315/16 (TWINSUK)
T=0.006227/24 (ALSPAC)
T=0.055556/12 (Qatari)
T=0.08508/11920 (GnomAD)
T=0.089172/23603 (TOPMED)
T=0.102748/515 (1000Genomes)
T=0.128974/10150 (PAGE_STUDY)
T=0.164093/255 (HapMap)
C=0.397059/27 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96893076C>T, NC_000009.11:g.99655358C>T

Select item 10604706.

rs1060470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:96817410 (GRCh38)
9:99579692 (GRCh37)
Canonical SPDI:: NC_000009.12:96817409:C:T
Gene:: ZNF782 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.96817410C>T, NC_000009.11:g.99579692C>T, XM_011518318.4:c.*513G>A, XM_011518318.3:c.*513G>A, XM_011518318.2:c.*513G>A, XM_011518318.1:c.*513G>A, XM_017014343.3:c.*513G>A, XM_017014343.2:c.*513G>A, XM_017014343.1:c.*513G>A, XR_001746208.3:n.4319G>A, XR_001746208.2:n.2842G>A, XR_001746208.1:n.4299G>A, NM_001001662.3:c.*513G>A, NM_001001662.2:c.*513G>A, NM_001001662.1:c.*513G>A, XM_011518320.3:c.*513G>A, XM_011518320.2:c.*513G>A, XM_011518320.1:c.*513G>A, XM_011518315.3:c.*513G>A, XM_011518315.2:c.*513G>A, XM_011518315.1:c.*513G>A, XM_024447431.2:c.*513G>A, XM_024447431.1:c.*513G>A, NM_001346991.2:c.*513G>A, NM_001346991.1:c.*513G>A, NM_001346993.2:c.*513G>A, NM_001346993.1:c.*513G>A, NM_001346995.2:c.*513G>A, NM_001346995.1:c.*513G>A, XM_047422873.1:c.*513G>A, XM_047422871.1:c.*513G>A, XM_047422870.1:c.*513G>A, XM_047422872.1:c.*513G>A, XR_007061253.1:n.3301G>A, XR_007061254.1:n.3246G>A, XR_007061255.1:n.3084G>A, XR_007061256.1:n.3066G>A, XM_047422874.1:c.*513G>A

Select item 13277817.

rs1327781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 9:96868304 (GRCh38)
9:99630586 (GRCh37)
Canonical SPDI:: NC_000009.12:96868303:A:G,NC_000009.12:96868303:A:T
Gene:: ZNF782 (Varview), LOC100132781 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.103759/1960 (ALFA)
G=0.008333/5 (NorthernSweden)
G=0.013215/49 (TWINSUK)
G=0.016032/16 (GoNL)
G=0.01972/76 (ALSPAC)
G=0.025/1 (GENOME_DK)
G=0.028348/127 (Estonian)
G=0.111111/24 (Qatari)
G=0.177898/24937 (GnomAD)
G=0.18621/49288 (TOPMED)
G=0.258276/1293 (1000Genomes)
G=0.273585/58 (Vietnamese)
G=0.320122/105 (HapMap)
G=0.349345/640 (Korea1K)
G=0.356655/1045 (KOREAN)
A=0.363636/56 (SGDP_PRJ)
G=0.401444/6728 (TOMMO)
A=0.4375/7 (Siberian)
HGVS:: NC_000009.12:g.96868304A>G, NC_000009.12:g.96868304A>T, NC_000009.11:g.99630586A>G, NC_000009.11:g.99630586A>T

Select item 13598808.

rs1359880 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:96906648 (GRCh38)
9:99668930 (GRCh37)
Canonical SPDI:: NC_000009.12:96906647:T:A,NC_000009.12:96906647:T:C
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00028/5 (TOMMO)
HGVS:: NC_000009.12:g.96906648T>A, NC_000009.12:g.96906648T>C, NC_000009.11:g.99668930T>A, NC_000009.11:g.99668930T>C

Select item 14101919.

rs1410191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:96874543 (GRCh38)
9:99636825 (GRCh37)
Canonical SPDI:: NC_000009.12:96874542:G:A,NC_000009.12:96874542:G:T
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000069/1 (ALFA)
A=0.001504/398 (TOPMED)
A=0.00203/10 (1000Genomes)
A=0.00463/1 (Qatari)
HGVS:: NC_000009.12:g.96874543G>A, NC_000009.12:g.96874543G>T, NC_000009.11:g.99636825G>A, NC_000009.11:g.99636825G>T

Select item 141019210.

rs1410192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:96874579 (GRCh38)
9:99636861 (GRCh37)
Canonical SPDI:: NC_000009.12:96874578:C:G
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.96874579C>G, NC_000009.11:g.99636861C>G

Select item 141019311.

rs1410193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:96874660 (GRCh38)
9:99636942 (GRCh37)
Canonical SPDI:: NC_000009.12:96874659:G:C
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.030374/438 (ALFA)
C=0.013889/3 (Qatari)
C=0.039968/5604 (GnomAD)
C=0.042487/11246 (TOPMED)
C=0.048095/241 (1000Genomes)
G=0.464286/13 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96874660G>C, NC_000009.11:g.99636942G>C

Select item 181078812.

rs1810788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:96930809 (GRCh38)
9:99693091 (GRCh37)
Canonical SPDI:: NC_000009.12:96930808:T:C,NC_000009.12:96930808:T:G
Gene:: ZNF782 (Varview), NUTM2G (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.022589/595 (ALFA)
G=0.008333/5 (NorthernSweden)
G=0.01503/15 (GoNL)
G=0.069444/15 (Qatari)
G=0.117054/16005 (GnomAD)
G=0.201593/1010 (1000Genomes)
G=0.350983/643 (Korea1K)
G=0.362457/1062 (KOREAN)
G=0.38127/6375 (TOMMO)
T=0.421053/64 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96930809T>C, NC_000009.12:g.96930809T>G, NC_000009.11:g.99693091T>C, NC_000009.11:g.99693091T>G

Select item 181535813.

rs1815358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:96931278 (GRCh38)
9:99693560 (GRCh37)
Canonical SPDI:: NC_000009.12:96931277:C:G,NC_000009.12:96931277:C:T
Gene:: ZNF782 (Varview), NUTM2G (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.012185/199 (ALFA)
T=0.005/3 (NorthernSweden)
T=0.016679/2320 (GnomAD)
T=0.018603/4924 (TOPMED)
T=0.050906/255 (1000Genomes)
T=0.262003/764 (KOREAN)
T=0.320096/5364 (TOMMO)
C=0.454545/20 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96931278C>G, NC_000009.12:g.96931278C>T, NC_000009.11:g.99693560C>G, NC_000009.11:g.99693560C>T

Select item 185421614.

rs1854216 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:96872414 (GRCh38)
9:99634696 (GRCh37)
Canonical SPDI:: NC_000009.12:96872413:C:T
Gene:: ZNF782 (Varview), LOC100132781 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.262548/4959 (ALFA)
T=0.002396/7 (KOREAN)
T=0.003275/6 (Korea1K)
T=0.004176/70 (TOMMO)
T=0.009346/2 (Vietnamese)
T=0.143036/716 (1000Genomes)
T=0.219801/58179 (TOPMED)
T=0.22912/1026 (Estonian)
T=0.229549/32085 (GnomAD)
T=0.266667/160 (NorthernSweden)
T=0.328704/71 (Qatari)
T=0.339679/339 (GoNL)
T=0.344121/1276 (TWINSUK)
T=0.345096/1330 (ALSPAC)
T=0.35/14 (GENOME_DK)
C=0.426829/70 (SGDP_PRJ)
C=0.5/8 (Siberian)
HGVS:: NC_000009.12:g.96872414C>T, NC_000009.11:g.99634696C>T

Select item 185421715.

rs1854217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:96821850 (GRCh38)
9:99584132 (GRCh37)
Canonical SPDI:: NC_000009.12:96821849:G:A,NC_000009.12:96821849:G:C
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000009.12:g.96821850G>A, NC_000009.12:g.96821850G>C, NC_000009.11:g.99584132G>A, NC_000009.11:g.99584132G>C

Select item 196489416.

rs1964894 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:96913512 (GRCh38)
9:99675794 (GRCh37)
Canonical SPDI:: NC_000009.12:96913511:G:A
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.96913512G>A, NC_000009.11:g.99675794G>A

Select item 196489517.

rs1964895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:96913641 (GRCh38)
9:99675923 (GRCh37)
Canonical SPDI:: NC_000009.12:96913640:C:A,NC_000009.12:96913640:C:T
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000091/24 (TOPMED)
A=0.00406/26 (1000Genomes)
A=0.008682/145 (TOMMO)
T=0.009259/2 (Qatari)
A=0.027166/79 (KOREAN)
HGVS:: NC_000009.12:g.96913641C>A, NC_000009.12:g.96913641C>T, NC_000009.11:g.99675923C>A, NC_000009.11:g.99675923C>T

Select item 202587118.

rs2025871 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:96908329 (GRCh38)
9:99670611 (GRCh37)
Canonical SPDI:: NC_000009.12:96908328:A:G
Gene:: ZNF782 (Varview), PTMAP11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01745/207 (ALFA)
G=0.00219/37 (TOMMO)
G=0.00479/14 (KOREAN)
G=0.00655/12 (Korea1K)
HGVS:: NC_000009.12:g.96908329A>G, NC_000009.11:g.99670611A>G

Select item 202587319.

rs2025873 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:96908173 (GRCh38)
9:99670455 (GRCh37)
Canonical SPDI:: NC_000009.12:96908172:G:A,NC_000009.12:96908172:G:C,NC_000009.12:96908172:G:T
Gene:: ZNF782 (Varview), PTMAP11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.00164/3 (Korea1K)
T=0.00342/10 (KOREAN)
T=0.00552/93 (TOMMO)
T=0.00926/2 (Qatari)
HGVS:: NC_000009.12:g.96908173G>A, NC_000009.12:g.96908173G>C, NC_000009.12:g.96908173G>T, NC_000009.11:g.99670455G>A, NC_000009.11:g.99670455G>C, NC_000009.11:g.99670455G>T

Select item 203178220.

rs2031782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:96913616 (GRCh38)
9:99675898 (GRCh37)
Canonical SPDI:: NC_000009.12:96913615:G:A,NC_000009.12:96913615:G:C,NC_000009.12:96913615:G:T
Gene:: ZNF782 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.031407/3883 (GnomAD)
G=0.357143/10 (SGDP_PRJ)
C=0.370474/1064 (KOREAN)
HGVS:: NC_000009.12:g.96913616G>A, NC_000009.12:g.96913616G>C, NC_000009.12:g.96913616G>T, NC_000009.11:g.99675898G>A, NC_000009.11:g.99675898G>C, NC_000009.11:g.99675898G>T

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