SNP Links for Gene (Select 105369748) - SNP

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Select item 14915469181.

rs1491546918 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:47728252 (GRCh38)
12:48122035 (GRCh37)
Canonical SPDI:: NC_000012.12:47728249:TATA:TA
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.47728250TA[1], NC_000012.11:g.48122033TA[1], XR_001749111.2:n.8649TA[1], XR_001749112.2:n.8646TA[1], XR_007063289.1:n.8651TA[1]

Select item 14915133122.

rs1491513312 has merged into rs61509502 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAAAA [Show Flanks]
Chromosome:: 12:47728286 (GRCh38)
12:48122069 (GRCh37)
Canonical SPDI:: NC_000012.12:47728284:AAAAA:A,NC_000012.12:47728284:AAAAA:AA,NC_000012.12:47728284:AAAAA:AAA,NC_000012.12:47728284:AAAAA:AAAAAA
Gene:: RPAP3-DT (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.20628/795 (ALSPAC)
-=0.20928/776 (TWINSUK)
HGVS:: NC_000012.12:g.47728286_47728289del, NC_000012.12:g.47728287_47728289del, NC_000012.12:g.47728288_47728289del, NC_000012.12:g.47728289dup, NC_000012.11:g.48122069_48122072del, NC_000012.11:g.48122070_48122072del, NC_000012.11:g.48122071_48122072del, NC_000012.11:g.48122072dup, XR_001749111.2:n.8685_8688del, XR_001749111.2:n.8686_8688del, XR_001749111.2:n.8687_8688del, XR_001749111.2:n.8688dup, XR_001749112.2:n.8682_8685del, XR_001749112.2:n.8683_8685del, XR_001749112.2:n.8684_8685del, XR_001749112.2:n.8685dup, XR_007063289.1:n.8687_8690del, XR_007063289.1:n.8688_8690del, XR_007063289.1:n.8689_8690del, XR_007063289.1:n.8690dup

Select item 14914971493.

rs1491497149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACAGAGAGA,CACACAGAGAGAGA,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 12:47728286 (GRCh38)
12:48122070 (GRCh37)
Canonical SPDI:: NC_000012.12:47728286:A:ACACACAGAGAGA,NC_000012.12:47728286:A:ACACACAGAGAGAGA,NC_000012.12:47728286:A:AGA,NC_000012.12:47728286:A:AGAGA,NC_000012.12:47728286:A:AGAGAGA,NC_000012.12:47728286:A:AGAGAGAGA,NC_000012.12:47728286:A:AGAGAGAGAGA,NC_000012.12:47728286:A:AGAGAGAGAGAGA,NC_000012.12:47728286:A:AGAGAGAGAGAGAGA,NC_000012.12:47728286:A:AGAGAGAGAGAGAGAGA,NC_000012.12:47728286:A:AGAGAGAGAGAGAGAGAGA,NC_000012.12:47728286:A:AGAGAGAGAGAGAGAGAGAGA
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000012.12:g.47728287AC[3]AG[3]A[1], NC_000012.12:g.47728287AC[3]AG[4]A[1], NC_000012.12:g.47728287_47728288insGA, NC_000012.12:g.47728287_47728288insGAGA, NC_000012.12:g.47728288GA[3], NC_000012.12:g.47728288GA[4], NC_000012.12:g.47728288GA[5], NC_000012.12:g.47728288GA[6], NC_000012.12:g.47728288GA[7], NC_000012.12:g.47728288GA[8], NC_000012.12:g.47728288GA[9], NC_000012.12:g.47728288GA[10], NC_000012.11:g.48122070AC[3]AG[3]A[1], NC_000012.11:g.48122070AC[3]AG[4]A[1], NC_000012.11:g.48122070_48122071insGA, NC_000012.11:g.48122070_48122071insGAGA, NC_000012.11:g.48122071GA[3], NC_000012.11:g.48122071GA[4], NC_000012.11:g.48122071GA[5], NC_000012.11:g.48122071GA[6], NC_000012.11:g.48122071GA[7], NC_000012.11:g.48122071GA[8], NC_000012.11:g.48122071GA[9], NC_000012.11:g.48122071GA[10], XR_001749111.2:n.8686AC[3]AG[3]A[1], XR_001749111.2:n.8686AC[3]AG[4]A[1], XR_001749111.2:n.8686_8687insGA, XR_001749111.2:n.8686_8687insGAGA, XR_001749111.2:n.8687GA[3], XR_001749111.2:n.8687GA[4], XR_001749111.2:n.8687GA[5], XR_001749111.2:n.8687GA[6], XR_001749111.2:n.8687GA[7], XR_001749111.2:n.8687GA[8], XR_001749111.2:n.8687GA[9], XR_001749111.2:n.8687GA[10], XR_001749112.2:n.8683AC[3]AG[3]A[1], XR_001749112.2:n.8683AC[3]AG[4]A[1], XR_001749112.2:n.8683_8684insGA, XR_001749112.2:n.8683_8684insGAGA, XR_001749112.2:n.8684GA[3], XR_001749112.2:n.8684GA[4], XR_001749112.2:n.8684GA[5], XR_001749112.2:n.8684GA[6], XR_001749112.2:n.8684GA[7], XR_001749112.2:n.8684GA[8], XR_001749112.2:n.8684GA[9], XR_001749112.2:n.8684GA[10], XR_007063289.1:n.8688AC[3]AG[3]A[1], XR_007063289.1:n.8688AC[3]AG[4]A[1], XR_007063289.1:n.8688_8689insGA, XR_007063289.1:n.8688_8689insGAGA, XR_007063289.1:n.8689GA[3], XR_007063289.1:n.8689GA[4], XR_007063289.1:n.8689GA[5], XR_007063289.1:n.8689GA[6], XR_007063289.1:n.8689GA[7], XR_007063289.1:n.8689GA[8], XR_007063289.1:n.8689GA[9], XR_007063289.1:n.8689GA[10]

Select item 14914253234.

rs1491425323 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 12:47728250 (GRCh38)
12:48122034 (GRCh37)
Canonical SPDI:: NC_000012.12:47728250:A:ACACA,NC_000012.12:47728250:A:ACACACA,NC_000012.12:47728250:A:ACACACACA,NC_000012.12:47728250:A:ACACACACACA
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACACACA=0./0 (ALFA)
HGVS:: NC_000012.12:g.47728251_47728252insCACA, NC_000012.12:g.47728252CA[3], NC_000012.12:g.47728252CA[4], NC_000012.12:g.47728252CA[5], NC_000012.11:g.48122034_48122035insCACA, NC_000012.11:g.48122035CA[3], NC_000012.11:g.48122035CA[4], NC_000012.11:g.48122035CA[5], XR_001749111.2:n.8650_8651insCACA, XR_001749111.2:n.8651CA[3], XR_001749111.2:n.8651CA[4], XR_001749111.2:n.8651CA[5], XR_001749112.2:n.8647_8648insCACA, XR_001749112.2:n.8648CA[3], XR_001749112.2:n.8648CA[4], XR_001749112.2:n.8648CA[5], XR_007063289.1:n.8652_8653insCACA, XR_007063289.1:n.8653CA[3], XR_007063289.1:n.8653CA[4], XR_007063289.1:n.8653CA[5]

Select item 14913858705.

rs1491385870 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 12:47713741 (GRCh38)
12:48107525 (GRCh37)
Canonical SPDI:: NC_000012.12:47713741:G:GCG
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.000008/2 (TOPMED)
GC=0.000095/2 (GnomAD)
HGVS:: NC_000012.12:g.47713742_47713743insCG, NC_000012.11:g.48107525_48107526insCG

Select item 14913515096.

rs1491351509 has merged into rs36154262 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:47706877 (GRCh38)
12:48100660 (GRCh37)
Canonical SPDI:: NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGT,NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGTGT,NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000012.12:47706868:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT
Gene:: RPAP3 (Varview), RPAP3-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.0073/28 (ALSPAC)
-=0.2356/49 (Vietnamese)
-=0.2933/1469 (1000Genomes)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000012.12:g.47706869GT[4], NC_000012.12:g.47706869GT[5], NC_000012.12:g.47706869GT[6], NC_000012.12:g.47706869GT[7], NC_000012.12:g.47706869GT[8], NC_000012.12:g.47706869GT[10], NC_000012.12:g.47706869GT[11], NC_000012.11:g.48100652GT[4], NC_000012.11:g.48100652GT[5], NC_000012.11:g.48100652GT[6], NC_000012.11:g.48100652GT[7], NC_000012.11:g.48100652GT[8], NC_000012.11:g.48100652GT[10], NC_000012.11:g.48100652GT[11]

Select item 14913020167.

rs1491302016 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:47729981 (GRCh38)
12:48123764 (GRCh37)
Canonical SPDI:: NC_000012.12:47729980:GT:
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000102/2 (GnomAD)
-=0.000248/4 (TOMMO)
-=0.000597/1 (Korea1K)
HGVS:: NC_000012.12:g.47729981_47729982del, NC_000012.11:g.48123764_48123765del, XR_944902.4:n.1297_1298del, XR_944902.3:n.1322_1323del, XR_944898.3:n.1397_1398del, XR_001749110.3:n.1392_1393del, XR_001749110.2:n.1419_1420del

Select item 14911617358.

rs1491161735 has merged into rs11320435 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 12:47729991 (GRCh38)
12:48123774 (GRCh37)
Canonical SPDI:: NC_000012.12:47729981:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:47729981:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:47729981:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:47729981:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:47729981:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.0585/293 (1000Genomes)
-=0.3072/1184 (ALSPAC)
HGVS:: NC_000012.12:g.47729991_47729995del, NC_000012.12:g.47729993_47729995del, NC_000012.12:g.47729994_47729995del, NC_000012.12:g.47729995del, NC_000012.12:g.47729995dup, NC_000012.11:g.48123774_48123778del, NC_000012.11:g.48123776_48123778del, NC_000012.11:g.48123777_48123778del, NC_000012.11:g.48123778del, NC_000012.11:g.48123778dup, XR_944902.4:n.1307_1311del, XR_944902.4:n.1309_1311del, XR_944902.4:n.1310_1311del, XR_944902.4:n.1311del, XR_944902.4:n.1311dup, XR_944902.3:n.1332_1336del, XR_944902.3:n.1334_1336del, XR_944902.3:n.1335_1336del, XR_944902.3:n.1336del, XR_944902.3:n.1336dup, XR_944898.3:n.1407_1411del, XR_944898.3:n.1409_1411del, XR_944898.3:n.1410_1411del, XR_944898.3:n.1411del, XR_944898.3:n.1411dup, XR_001749110.3:n.1402_1406del, XR_001749110.3:n.1404_1406del, XR_001749110.3:n.1405_1406del, XR_001749110.3:n.1406del, XR_001749110.3:n.1406dup, XR_001749110.2:n.1429_1433del, XR_001749110.2:n.1431_1433del, XR_001749110.2:n.1432_1433del, XR_001749110.2:n.1433del, XR_001749110.2:n.1433dup

Select item 14910102469.

rs1491010246 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:47713748 (GRCh38)
12:48107532 (GRCh37)
Canonical SPDI:: NC_000012.12:47713748::T
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47713748_47713749insT, NC_000012.11:g.48107531_48107532insT

Select item 149098070710.

rs1490980707 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47735809 (GRCh38)
12:48129592 (GRCh37)
Canonical SPDI:: NC_000012.12:47735808:C:G
Gene:: RAPGEF3 (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.47735809C>G, NC_000012.11:g.48129592C>G, NM_006105.5:c.*1758G>C, NM_001098531.4:c.*1758G>C, NM_001098531.3:c.*1758G>C, NM_001098531.2:c.*1758G>C, XM_005268571.4:c.*1758G>C, XM_011537752.3:c.*1758G>C, XM_011537758.3:c.*1758G>C, XM_011537755.2:c.*1758G>C, NM_001098532.2:c.*1758G>C

Select item 149073796811.

rs1490737968 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACAAAAA>- [Show Flanks]
Chromosome:: 12:47728272 (GRCh38)
12:48122055 (GRCh37)
Canonical SPDI:: NC_000012.12:47728270:ACACACACACACACAAAAA:A
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.47728272_47728289del, NC_000012.11:g.48122055_48122072del, XR_001749111.2:n.8671_8688del, XR_001749112.2:n.8668_8685del, XR_007063289.1:n.8673_8690del

Select item 149068794812.

rs1490687948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:47721236 (GRCh38)
12:48115019 (GRCh37)
Canonical SPDI:: NC_000012.12:47721235:T:C
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.47721236T>C, NC_000012.11:g.48115019T>C, XR_001749111.2:n.1635T>C, XR_001749112.2:n.1632T>C, XR_001749112.1:n.1659T>C, XR_007063289.1:n.1637T>C

Select item 149064597513.

rs1490645975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:47719969 (GRCh38)
12:48113752 (GRCh37)
Canonical SPDI:: NC_000012.12:47719968:T:A
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.47719969T>A, NC_000012.11:g.48113752T>A, XR_001749111.2:n.368T>A, XR_001749111.1:n.395T>A, XR_001749112.2:n.365T>A, XR_001749112.1:n.392T>A, XR_007063289.1:n.370T>A

Select item 149055884614.

rs1490558846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:47728933 (GRCh38)
12:48122716 (GRCh37)
Canonical SPDI:: NC_000012.12:47728932:C:A
Gene:: RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47728933C>A, NC_000012.11:g.48122716C>A, XR_944902.4:n.249C>A, XR_944902.3:n.274C>A, XR_944902.2:n.274C>A, XR_944902.1:n.273C>A, XR_944898.3:n.349C>A, XR_944898.2:n.376C>A, XR_944898.1:n.376C>A, XR_001749110.3:n.344C>A, XR_001749110.2:n.371C>A, XR_001749110.1:n.371C>A, XR_001749111.2:n.9332C>A, XR_001749112.2:n.9329C>A, XR_007063289.1:n.9334C>A

Select item 149048488315.

rs1490484883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47712494 (GRCh38)
12:48106277 (GRCh37)
Canonical SPDI:: NC_000012.12:47712493:C:G
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47712494C>G, NC_000012.11:g.48106277C>G

Select item 149031993116.

rs1490319931 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:47710949 (GRCh38)
12:48104732 (GRCh37)
Canonical SPDI:: NC_000012.12:47710948:G:A
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.47710949G>A, NC_000012.11:g.48104732G>A

Select item 149031045917.

rs1490310459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47717243 (GRCh38)
12:48111026 (GRCh37)
Canonical SPDI:: NC_000012.12:47717242:C:T
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000012.12:g.47717243C>T, NC_000012.11:g.48111026C>T

Select item 149029468818.

rs1490294688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:47715201 (GRCh38)
12:48108984 (GRCh37)
Canonical SPDI:: NC_000012.12:47715200:C:G
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.47715201C>G, NC_000012.11:g.48108984C>G

Select item 149026952419.

rs1490269524 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:47712917 (GRCh38)
12:48106700 (GRCh37)
Canonical SPDI:: NC_000012.12:47712916:G:T
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.47712917G>T, NC_000012.11:g.48106700G>T

Select item 149015086620.

rs1490150866 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:47721138 (GRCh38)
12:48114921 (GRCh37)
Canonical SPDI:: NC_000012.12:47721137:C:T
Gene:: ENDOU (Varview), RPAP3-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.47721138C>T, NC_000012.11:g.48114921C>T, XR_001749111.2:n.1537C>T, XR_001749112.2:n.1534C>T, XR_001749112.1:n.1561C>T, XR_007063289.1:n.1539C>T

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