SNP Links for Gene (Select 55048) - SNP

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Select item 14915492381.

rs1491549238 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTTT [Show Flanks]
Chromosome:: 11:61139742 (GRCh38)
11:60907215 (GRCh37)
Canonical SPDI:: NC_000011.10:61139742:TTTTT:TTTTTGTTTTT
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000011.10:g.61139743_61139747T[5]GTTTTT[1], NC_000011.9:g.60907215_60907219T[5]GTTTTT[1]

Select item 14915348642.

rs1491534864 has merged into rs61061689 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:61155115 (GRCh38)
11:60922587 (GRCh37)
Canonical SPDI:: NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:61155104:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.1326/664 (1000Genomes)
HGVS:: NC_000011.10:g.61155115_61155118del, NC_000011.10:g.61155116_61155118del, NC_000011.10:g.61155117_61155118del, NC_000011.10:g.61155118del, NC_000011.10:g.61155118dup, NC_000011.10:g.61155117_61155118dup, NC_000011.10:g.61155110_61155118dup, NC_000011.9:g.60922587_60922590del, NC_000011.9:g.60922588_60922590del, NC_000011.9:g.60922589_60922590del, NC_000011.9:g.60922590del, NC_000011.9:g.60922590dup, NC_000011.9:g.60922589_60922590dup, NC_000011.9:g.60922582_60922590dup

Select item 14915303043.

rs1491530304 has merged into rs545629004 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:61139754 (GRCh38)
11:60907226 (GRCh37)
Canonical SPDI:: NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:61139741:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.00026/3 (TOMMO)
T=0.15/6 (GENOME_DK)
HGVS:: NC_000011.10:g.61139754_61139761del, NC_000011.10:g.61139758_61139761del, NC_000011.10:g.61139759_61139761del, NC_000011.10:g.61139760_61139761del, NC_000011.10:g.61139761del, NC_000011.10:g.61139761dup, NC_000011.10:g.61139760_61139761dup, NC_000011.10:g.61139759_61139761dup, NC_000011.10:g.61139758_61139761dup, NC_000011.10:g.61139755_61139761dup, NC_000011.9:g.60907226_60907233del, NC_000011.9:g.60907230_60907233del, NC_000011.9:g.60907231_60907233del, NC_000011.9:g.60907232_60907233del, NC_000011.9:g.60907233del, NC_000011.9:g.60907233dup, NC_000011.9:g.60907232_60907233dup, NC_000011.9:g.60907231_60907233dup, NC_000011.9:g.60907230_60907233dup, NC_000011.9:g.60907227_60907233dup

Select item 14913518384.

rs1491351838 has merged into rs148831092 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:61148592 (GRCh38)
11:60916064 (GRCh37)
Canonical SPDI:: NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61148578:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.61148592_61148597del, NC_000011.10:g.61148593_61148597del, NC_000011.10:g.61148594_61148597del, NC_000011.10:g.61148595_61148597del, NC_000011.10:g.61148596_61148597del, NC_000011.10:g.61148597del, NC_000011.10:g.61148597dup, NC_000011.10:g.61148596_61148597dup, NC_000011.10:g.61148589_61148597dup, NC_000011.10:g.61148587_61148597dup, NC_000011.9:g.60916064_60916069del, NC_000011.9:g.60916065_60916069del, NC_000011.9:g.60916066_60916069del, NC_000011.9:g.60916067_60916069del, NC_000011.9:g.60916068_60916069del, NC_000011.9:g.60916069del, NC_000011.9:g.60916069dup, NC_000011.9:g.60916068_60916069dup, NC_000011.9:g.60916061_60916069dup, NC_000011.9:g.60916059_60916069dup

Select item 14912079195.

rs1491207919 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:61148578 (GRCh38)
11:60916050 (GRCh37)
Canonical SPDI:: NC_000011.10:61148577:TA:
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.61148578_61148579del, NC_000011.9:g.60916050_60916051del

Select item 14911731176.

rs1491173117 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:61155104 (GRCh38)
11:60922576 (GRCh37)
Canonical SPDI:: NC_000011.10:61155103:CA:
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00169/20 (ALFA)
-=0.00379/2 (NorthernSweden)
HGVS:: NC_000011.10:g.61155104_61155105del, NC_000011.9:g.60922576_60922577del

Select item 14910725717.

rs1491072571 has merged into rs35953020 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:61159914 (GRCh38)
11:60927386 (GRCh37)
Canonical SPDI:: NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000011.10:61159901:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.61159914_61159928del, NC_000011.10:g.61159915_61159928del, NC_000011.10:g.61159916_61159928del, NC_000011.10:g.61159917_61159928del, NC_000011.10:g.61159918_61159928del, NC_000011.10:g.61159919_61159928del, NC_000011.10:g.61159920_61159928del, NC_000011.10:g.61159921_61159928del, NC_000011.10:g.61159922_61159928del, NC_000011.10:g.61159923_61159928del, NC_000011.10:g.61159924_61159928del, NC_000011.10:g.61159925_61159928del, NC_000011.10:g.61159926_61159928del, NC_000011.10:g.61159927_61159928del, NC_000011.10:g.61159928del, NC_000011.10:g.61159928dup, NC_000011.10:g.61159927_61159928dup, NC_000011.10:g.61159926_61159928dup, NC_000011.10:g.61159925_61159928dup, NC_000011.10:g.61159924_61159928dup, NC_000011.10:g.61159923_61159928dup, NC_000011.9:g.60927386_60927400del, NC_000011.9:g.60927387_60927400del, NC_000011.9:g.60927388_60927400del, NC_000011.9:g.60927389_60927400del, NC_000011.9:g.60927390_60927400del, NC_000011.9:g.60927391_60927400del, NC_000011.9:g.60927392_60927400del, NC_000011.9:g.60927393_60927400del, NC_000011.9:g.60927394_60927400del, NC_000011.9:g.60927395_60927400del, NC_000011.9:g.60927396_60927400del, NC_000011.9:g.60927397_60927400del, NC_000011.9:g.60927398_60927400del, NC_000011.9:g.60927399_60927400del, NC_000011.9:g.60927400del, NC_000011.9:g.60927400dup, NC_000011.9:g.60927399_60927400dup, NC_000011.9:g.60927398_60927400dup, NC_000011.9:g.60927397_60927400dup, NC_000011.9:g.60927396_60927400dup, NC_000011.9:g.60927395_60927400dup

Select item 14910339558.

rs1491033955 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:61150556 (GRCh38)
11:60918029 (GRCh37)
Canonical SPDI:: NC_000011.10:61150556:G:GG
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000009/1 (GnomAD)
HGVS:: NC_000011.10:g.61150557dup, NC_000011.9:g.60918029dup

Select item 14909789869.

rs1490978986 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61138737 (GRCh38)
11:60906209 (GRCh37)
Canonical SPDI:: NC_000011.10:61138736:C:T
Gene:: VPS37C (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61138737C>T, NC_000011.9:g.60906209C>T, NM_017966.5:c.93G>A, NM_017966.4:c.93G>A, XM_005274077.4:c.93G>A, XM_005274077.3:c.93G>A, XM_005274077.2:c.93G>A, XM_005274077.1:c.93G>A, XM_047427179.1:c.93G>A, XM_047427178.1:c.93G>A

Select item 149093579310.

rs1490935793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61153298 (GRCh38)
11:60920770 (GRCh37)
Canonical SPDI:: NC_000011.10:61153297:C:G
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61153298C>G, NC_000011.9:g.60920770C>G

Select item 149071608511.

rs1490716085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61147186 (GRCh38)
11:60914658 (GRCh37)
Canonical SPDI:: NC_000011.10:61147185:G:A
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61147186G>A, NC_000011.9:g.60914658G>A

Select item 149070778012.

rs1490707780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 11:61141391 (GRCh38)
11:60908863 (GRCh37)
Canonical SPDI:: NC_000011.10:61141390:T:A,NC_000011.10:61141390:T:G
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.00028/8 (TOMMO)
G=0.03219/94 (KOREAN)
HGVS:: NC_000011.10:g.61141391T>A, NC_000011.10:g.61141391T>G, NC_000011.9:g.60908863T>A, NC_000011.9:g.60908863T>G

Select item 149057951513.

rs1490579515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61145692 (GRCh38)
11:60913164 (GRCh37)
Canonical SPDI:: NC_000011.10:61145691:G:A
Gene:: VPS37C (Varview)
Functional Consequence:: 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_000011.10:g.61145692G>A, NC_000011.9:g.60913164G>A

Select item 149055450214.

rs1490554502 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61146702 (GRCh38)
11:60914174 (GRCh37)
Canonical SPDI:: NC_000011.10:61146701:G:C
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.61146702G>C, NC_000011.9:g.60914174G>C

Select item 149049619415.

rs1490496194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 11:61160819 (GRCh38)
11:60928291 (GRCh37)
Canonical SPDI:: NC_000011.10:61160818:G:A,NC_000011.10:61160818:G:C,NC_000011.10:61160818:G:T
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61160819G>A, NC_000011.10:g.61160819G>C, NC_000011.10:g.61160819G>T, NC_000011.9:g.60928291G>A, NC_000011.9:g.60928291G>C, NC_000011.9:g.60928291G>T

Select item 149046497116.

rs1490464971 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61161482 (GRCh38)
11:60928954 (GRCh37)
Canonical SPDI:: NC_000011.10:61161481:G:A
Gene:: VPS37C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.61161482G>A, NC_000011.9:g.60928954G>A

Select item 149046180417.

rs1490461804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 11:61157389 (GRCh38)
11:60924861 (GRCh37)
Canonical SPDI:: NC_000011.10:61157388:G:C,NC_000011.10:61157388:G:T
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61157389G>C, NC_000011.10:g.61157389G>T, NC_000011.9:g.60924861G>C, NC_000011.9:g.60924861G>T

Select item 149040617118.

rs1490406171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61155313 (GRCh38)
11:60922785 (GRCh37)
Canonical SPDI:: NC_000011.10:61155312:A:G
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61155313A>G, NC_000011.9:g.60922785A>G

Select item 149025390919.

rs1490253909 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:61133829 (GRCh38)
11:60901301 (GRCh37)
Canonical SPDI:: NC_000011.10:61133828:A:G
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.61133829A>G, NC_000011.9:g.60901301A>G

Select item 149023347120.

rs1490233471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:61154402 (GRCh38)
11:60921874 (GRCh37)
Canonical SPDI:: NC_000011.10:61154401:T:A
Gene:: VPS37C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.61154402T>A, NC_000011.9:g.60921874T>A

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