SNP Links for Gene (Select 400746) - SNP

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Select item 14915871841.

rs1491587184 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:24579197 (GRCh38)
1:24905688 (GRCh37)
Canonical SPDI:: NC_000001.11:24579196:GT:
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003962/47 (ALFA)
-=0.000531/9 (TOMMO)
-=0.002747/5 (Korea1K)
-=0.002967/19 (1000Genomes)
-=0.003965/538 (GnomAD)
HGVS:: NC_000001.11:g.24579197_24579198del, NC_000001.10:g.24905688_24905689del

Select item 14915786672.

rs1491578667 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 1:24597646 (GRCh38)
1:24924138 (GRCh37)
Canonical SPDI:: NC_000001.11:24597646:GAA:GAAGGAA
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAA=0.000245/4 (ALFA)
GAAG=0.00036/45 (GnomAD)
HGVS:: NC_000001.11:g.24597649_24597650insGGAA, NC_000001.10:g.24924140_24924141insGGAA

Select item 14915485453.

rs1491548545 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:24565159 (GRCh38)
1:24891650 (GRCh37)
Canonical SPDI:: NC_000001.11:24565158:TA:
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
HGVS:: NC_000001.11:g.24565159_24565160del, NC_000001.10:g.24891650_24891651del, XM_011541463.3:c.-278_-277del, XM_011541463.2:c.-278_-277del

Select item 14915219114.

rs1491521911 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAAGAAAGAA [Show Flanks]
Chromosome:: 1:24597642 (GRCh38)
1:24924134 (GRCh37)
Canonical SPDI:: NC_000001.11:24597642:GAAAGAAAGAA:GAAAGAAAGAAGGAAAGAAAGAA
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAAGAAAGAAGGAAAGAAAGAA=0./0 (ALFA)
GAAAGAAAGAAG=0.000035/4 (GnomAD)
HGVS:: NC_000001.11:g.24597643_24597653GAAA[2]GAAGGAAAGAAAGAA[1], NC_000001.10:g.24924134_24924144GAAA[2]GAAGGAAAGAAAGAA[1]

Select item 14915142145.

rs1491514214 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:24564533 (GRCh38)
1:24891024 (GRCh37)
Canonical SPDI:: NC_000001.11:24564531:ACA:A
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000546/9 (TOMMO)
-=0.001102/117 (GnomAD)
-=0.014754/27 (Korea1K)
HGVS:: NC_000001.11:g.24564533_24564534del, NC_000001.10:g.24891024_24891025del, XM_011541463.3:c.-904_-903del

Select item 14915005036.

rs1491500503 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:24597611 (GRCh38)
1:24924102 (GRCh37)
Canonical SPDI:: NC_000001.11:24597609:AAA:A
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.24597611_24597612del, NC_000001.10:g.24924102_24924103del

Select item 14914934057.

rs1491493405 has merged into rs1011267706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTG [Show Flanks]
Chromosome:: 1:24557406 (GRCh38)
1:24883897 (GRCh37)
Canonical SPDI:: NC_000001.11:24557395:TGTGTGTGTGTGTG:TGTGTGTGTG,NC_000001.11:24557395:TGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000001.11:24557395:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000001.11:24557395:TGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG
Gene:: NCMAP (Varview), NCMAP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
-=0.00006/1 (TOMMO)
-=0.00328/6 (Korea1K)
HGVS:: NC_000001.11:g.24557396TG[5], NC_000001.11:g.24557396TG[6], NC_000001.11:g.24557396TG[8], NC_000001.11:g.24557396TG[9], NC_000001.10:g.24883887TG[5], NC_000001.10:g.24883887TG[6], NC_000001.10:g.24883887TG[8], NC_000001.10:g.24883887TG[9]

Select item 14914804088.

rs1491480408 has merged into rs796235815 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG [Show Flanks]
Chromosome:: 1:24597528 (GRCh38)
1:24924019 (GRCh37)
Canonical SPDI:: NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000001.11:24597519:GGGGGGGGGGG:GGGGGGGGGGGGGGGG
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000001.11:g.24597528_24597530del, NC_000001.11:g.24597529_24597530del, NC_000001.11:g.24597530del, NC_000001.11:g.24597530dup, NC_000001.11:g.24597529_24597530dup, NC_000001.11:g.24597528_24597530dup, NC_000001.11:g.24597527_24597530dup, NC_000001.11:g.24597526_24597530dup, NC_000001.10:g.24924019_24924021del, NC_000001.10:g.24924020_24924021del, NC_000001.10:g.24924021del, NC_000001.10:g.24924021dup, NC_000001.10:g.24924020_24924021dup, NC_000001.10:g.24924019_24924021dup, NC_000001.10:g.24924018_24924021dup, NC_000001.10:g.24924017_24924021dup

Select item 14914767119.

rs1491476711 has merged into rs56946336 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 1:24600005 (GRCh38)
1:24926496 (GRCh37)
Canonical SPDI:: NC_000001.11:24599997:TTTTTTTTT:TTTTTTT,NC_000001.11:24599997:TTTTTTTTT:TTTTTTTT,NC_000001.11:24599997:TTTTTTTTT:TTTTTTTTTT,NC_000001.11:24599997:TTTTTTTTT:TTTTTTTTTTT
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.076043/279 (1000Genomes)
T=0.225/9 (GENOME_DK)
T=0.230043/60890 (TOPMED)
HGVS:: NC_000001.11:g.24600005_24600006del, NC_000001.11:g.24600006del, NC_000001.11:g.24600006dup, NC_000001.11:g.24600005_24600006dup, NC_000001.10:g.24926496_24926497del, NC_000001.10:g.24926497del, NC_000001.10:g.24926497dup, NC_000001.10:g.24926496_24926497dup

Select item 149144983310.

rs1491449833 has merged into rs112157881 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 1:24569031 (GRCh38)
1:24895522 (GRCh37)
Canonical SPDI:: NC_000001.11:24569026:TTTTTTTTT:TTTT,NC_000001.11:24569026:TTTTTTTTT:TTTTTTTT,NC_000001.11:24569026:TTTTTTTTT:TTTTTTTTTT,NC_000001.11:24569026:TTTTTTTTT:TTTTTTTTTTT
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.04475/152 (1000Genomes)
T=0.125/5 (GENOME_DK)
T=0.39847/730 (Korea1K)
T=0.42501/7123 (TOMMO)
HGVS:: NC_000001.11:g.24569031_24569035del, NC_000001.11:g.24569035del, NC_000001.11:g.24569035dup, NC_000001.11:g.24569034_24569035dup, NC_000001.10:g.24895522_24895526del, NC_000001.10:g.24895526del, NC_000001.10:g.24895526dup, NC_000001.10:g.24895525_24895526dup

Select item 149143718411.

rs1491437184 has merged into rs34640170 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:24595804 (GRCh38)
1:24922295 (GRCh37)
Canonical SPDI:: NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:24595794:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTT=0.4994/2501 (1000Genomes)
HGVS:: NC_000001.11:g.24595804_24595815del, NC_000001.11:g.24595807_24595815del, NC_000001.11:g.24595808_24595815del, NC_000001.11:g.24595809_24595815del, NC_000001.11:g.24595810_24595815del, NC_000001.11:g.24595811_24595815del, NC_000001.11:g.24595812_24595815del, NC_000001.11:g.24595813_24595815del, NC_000001.11:g.24595814_24595815del, NC_000001.11:g.24595815del, NC_000001.11:g.24595815dup, NC_000001.11:g.24595814_24595815dup, NC_000001.11:g.24595813_24595815dup, NC_000001.11:g.24595812_24595815dup, NC_000001.11:g.24595811_24595815dup, NC_000001.11:g.24595810_24595815dup, NC_000001.11:g.24595809_24595815dup, NC_000001.11:g.24595807_24595815dup, NC_000001.11:g.24595803_24595815dup, NC_000001.10:g.24922295_24922306del, NC_000001.10:g.24922298_24922306del, NC_000001.10:g.24922299_24922306del, NC_000001.10:g.24922300_24922306del, NC_000001.10:g.24922301_24922306del, NC_000001.10:g.24922302_24922306del, NC_000001.10:g.24922303_24922306del, NC_000001.10:g.24922304_24922306del, NC_000001.10:g.24922305_24922306del, NC_000001.10:g.24922306del, NC_000001.10:g.24922306dup, NC_000001.10:g.24922305_24922306dup, NC_000001.10:g.24922304_24922306dup, NC_000001.10:g.24922303_24922306dup, NC_000001.10:g.24922302_24922306dup, NC_000001.10:g.24922301_24922306dup, NC_000001.10:g.24922300_24922306dup, NC_000001.10:g.24922298_24922306dup, NC_000001.10:g.24922294_24922306dup

Select item 149142954912.

rs1491429549 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 1:24597647 (GRCh38)
1:24924138 (GRCh37)
Canonical SPDI:: NC_000001.11:24597645:AGA:A,NC_000001.11:24597645:AGA:AGAGA
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.000889/111 (GnomAD)
HGVS:: NC_000001.11:g.24597647_24597648del, NC_000001.11:g.24597647_24597648dup, NC_000001.10:g.24924138_24924139del, NC_000001.10:g.24924138_24924139dup

Select item 149140290413.

rs1491402904 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAAAGAAAGG [Show Flanks]
Chromosome:: 1:24597656 (GRCh38)
1:24924148 (GRCh37)
Canonical SPDI:: NC_000001.11:24597656::GAAAGAAAGG
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAAAGG=0.0009/4 (ALFA)
GAAAGAAAGG=0.00052/9 (TOMMO)
GAAAGAAAGG=0.00055/1 (Korea1K)
HGVS:: NC_000001.11:g.24597656_24597657insGAAAGAAAGG, NC_000001.10:g.24924147_24924148insGAAAGAAAGG

Select item 149139662914.

rs1491396629 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:24593330 (GRCh38)
1:24919822 (GRCh37)
Canonical SPDI:: NC_000001.11:24593330::G
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.24593330_24593331insG, NC_000001.10:g.24919821_24919822insG

Select item 149138227115.

rs1491382271 has merged into rs5773094 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:24561919 (GRCh38)
1:24888410 (GRCh37)
Canonical SPDI:: NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:24561910:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: NCMAP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.2183/1093 (1000Genomes)
HGVS:: NC_000001.11:g.24561919_24561925del, NC_000001.11:g.24561920_24561925del, NC_000001.11:g.24561921_24561925del, NC_000001.11:g.24561922_24561925del, NC_000001.11:g.24561923_24561925del, NC_000001.11:g.24561924_24561925del, NC_000001.11:g.24561925del, NC_000001.11:g.24561925dup, NC_000001.11:g.24561920_24561925dup, NC_000001.10:g.24888410_24888416del, NC_000001.10:g.24888411_24888416del, NC_000001.10:g.24888412_24888416del, NC_000001.10:g.24888413_24888416del, NC_000001.10:g.24888414_24888416del, NC_000001.10:g.24888415_24888416del, NC_000001.10:g.24888416del, NC_000001.10:g.24888416dup, NC_000001.10:g.24888411_24888416dup

Select item 149135758016.

rs1491357580 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:24573950 (GRCh38)
1:24900441 (GRCh37)
Canonical SPDI:: NC_000001.11:24573949:GA:
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.24573950_24573951del, NC_000001.10:g.24900441_24900442del

Select item 149133051417.

rs1491330514 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:24597610 (GRCh38)
1:24924102 (GRCh37)
Canonical SPDI:: NC_000001.11:24597610::G
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.24597610_24597611insG, NC_000001.10:g.24924101_24924102insG

Select item 149132598118.

rs1491325981 has merged into rs923030564 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:24570334 (GRCh38)
1:24896825 (GRCh37)
Canonical SPDI:: NC_000001.11:24570333:TTTTTTT:TTTTTT,NC_000001.11:24570333:TTTTTTT:TTTTTTTT
Gene:: NCMAP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000212/4 (TOMMO)
HGVS:: NC_000001.11:g.24570340del, NC_000001.11:g.24570340dup, NC_000001.10:g.24896831del, NC_000001.10:g.24896831dup

Select item 149132454019.

rs1491324540 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:24573950 (GRCh38)
1:24900442 (GRCh37)
Canonical SPDI:: NC_000001.11:24573950:A:AA,NC_000001.11:24573950:A:AAA,NC_000001.11:24573950:A:AAAAAAAAAAA,NC_000001.11:24573950:A:AAAAAAAAAAAA
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.00008/1 (ALFA)
AAAAAAAAAAA=0.00015/2 (TOMMO)
HGVS:: NC_000001.11:g.24573951dup, NC_000001.11:g.24573951_24573952insAA, NC_000001.11:g.24573951_24573952insAAAAAAAAAA, NC_000001.11:g.24573951_24573952insAAAAAAAAAAA, NC_000001.10:g.24900442dup, NC_000001.10:g.24900442_24900443insAA, NC_000001.10:g.24900442_24900443insAAAAAAAAAA, NC_000001.10:g.24900442_24900443insAAAAAAAAAAA

Select item 149132432720.

rs1491324327 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAAGAA [Show Flanks]
Chromosome:: 1:24597654 (GRCh38)
1:24924146 (GRCh37)
Canonical SPDI:: NC_000001.11:24597654:GAAAGAA:GAAAGAAGGAAAGAA
Gene:: NCMAP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GAAAGAAG=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.24597661_24597662insGGAAAGAA, NC_000001.10:g.24924152_24924153insGGAAAGAA

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