SNP Links for Gene (Select 90649) - SNP

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Select item 14915820971.

rs1491582097 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:20168848 (GRCh38)
19:20279657 (GRCh37)
Canonical SPDI:: NC_000019.10:20168847:AT:
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.20168848_20168849del, NC_000019.9:g.20279657_20279658del, NW_003571053.2:g.86101_86102del

Select item 14914982742.

rs1491498274 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAA [Show Flanks]
Chromosome:: 19:20181544 (GRCh38)
19:20292354 (GRCh37)
Canonical SPDI:: NC_000019.10:20181544:AAA:AAACAAA
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAA=0.00017/2 (ALFA)
AAAC=0.00025/17 (GnomAD)
HGVS:: NC_000019.10:g.20181547_20181548insCAAA, NC_000019.9:g.20292356_20292357insCAAA, NW_003571053.2:g.98800_98801insCAAA

Select item 14913739133.

rs1491373913 has merged into rs781968530 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:20169899 (GRCh38)
19:20280708 (GRCh37)
Canonical SPDI:: NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:20169888:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTT=0.00168/1 (NorthernSweden)
T=0.375/3 (KOREAN)
T=0.4/16 (GENOME_DK)
HGVS:: NC_000019.10:g.20169899_20169910del, NC_000019.10:g.20169900_20169910del, NC_000019.10:g.20169901_20169910del, NC_000019.10:g.20169902_20169910del, NC_000019.10:g.20169904_20169910del, NC_000019.10:g.20169905_20169910del, NC_000019.10:g.20169906_20169910del, NC_000019.10:g.20169907_20169910del, NC_000019.10:g.20169908_20169910del, NC_000019.10:g.20169909_20169910del, NC_000019.10:g.20169910del, NC_000019.10:g.20169910dup, NC_000019.10:g.20169909_20169910dup, NC_000019.10:g.20169908_20169910dup, NC_000019.10:g.20169907_20169910dup, NC_000019.10:g.20169906_20169910dup, NC_000019.10:g.20169905_20169910dup, NC_000019.10:g.20169904_20169910dup, NC_000019.10:g.20169903_20169910dup, NC_000019.10:g.20169902_20169910dup, NC_000019.10:g.20169901_20169910dup, NC_000019.10:g.20169895_20169910dup, NC_000019.9:g.20280708_20280719del, NC_000019.9:g.20280709_20280719del, NC_000019.9:g.20280710_20280719del, NC_000019.9:g.20280711_20280719del, NC_000019.9:g.20280713_20280719del, NC_000019.9:g.20280714_20280719del, NC_000019.9:g.20280715_20280719del, NC_000019.9:g.20280716_20280719del, NC_000019.9:g.20280717_20280719del, NC_000019.9:g.20280718_20280719del, NC_000019.9:g.20280719del, NC_000019.9:g.20280719dup, NC_000019.9:g.20280718_20280719dup, NC_000019.9:g.20280717_20280719dup, NC_000019.9:g.20280716_20280719dup, NC_000019.9:g.20280715_20280719dup, NC_000019.9:g.20280714_20280719dup, NC_000019.9:g.20280713_20280719dup, NC_000019.9:g.20280712_20280719dup, NC_000019.9:g.20280711_20280719dup, NC_000019.9:g.20280710_20280719dup, NC_000019.9:g.20280704_20280719dup, NW_003571053.2:g.87152_87163del, NW_003571053.2:g.87153_87163del, NW_003571053.2:g.87154_87163del, NW_003571053.2:g.87155_87163del, NW_003571053.2:g.87157_87163del, NW_003571053.2:g.87158_87163del, NW_003571053.2:g.87159_87163del, NW_003571053.2:g.87160_87163del, NW_003571053.2:g.87161_87163del, NW_003571053.2:g.87162_87163del, NW_003571053.2:g.87163del, NW_003571053.2:g.87163dup, NW_003571053.2:g.87162_87163dup, NW_003571053.2:g.87161_87163dup, NW_003571053.2:g.87160_87163dup, NW_003571053.2:g.87159_87163dup, NW_003571053.2:g.87158_87163dup, NW_003571053.2:g.87157_87163dup, NW_003571053.2:g.87156_87163dup, NW_003571053.2:g.87155_87163dup, NW_003571053.2:g.87154_87163dup, NW_003571053.2:g.87148_87163dup

Select item 14912932554.

rs1491293255 has merged into rs66504246 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 19:20181553 (GRCh38)
19:20292362 (GRCh37)
Canonical SPDI:: NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:20181543:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAA=0.29014/1453 (1000Genomes)
HGVS:: NC_000019.10:g.20181553_20181556del, NC_000019.10:g.20181555_20181556del, NC_000019.10:g.20181556del, NC_000019.10:g.20181556dup, NC_000019.10:g.20181555_20181556dup, NC_000019.10:g.20181554_20181556dup, NC_000019.10:g.20181553_20181556dup, NC_000019.10:g.20181552_20181556dup, NC_000019.10:g.20181551_20181556dup, NC_000019.9:g.20292362_20292365del, NC_000019.9:g.20292364_20292365del, NC_000019.9:g.20292365del, NC_000019.9:g.20292365dup, NC_000019.9:g.20292364_20292365dup, NC_000019.9:g.20292363_20292365dup, NC_000019.9:g.20292362_20292365dup, NC_000019.9:g.20292361_20292365dup, NC_000019.9:g.20292360_20292365dup, NW_003571053.2:g.98806_98809del, NW_003571053.2:g.98808_98809del, NW_003571053.2:g.98809del, NW_003571053.2:g.98809dup, NW_003571053.2:g.98808_98809dup, NW_003571053.2:g.98807_98809dup, NW_003571053.2:g.98806_98809dup, NW_003571053.2:g.98805_98809dup, NW_003571053.2:g.98804_98809dup

Select item 14912692815.

rs1491269281 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 19:20172311 (GRCh38)
19:20283120 (GRCh37)
Canonical SPDI:: NC_000019.10:20172310:CT:
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000028/3 (GnomAD)
HGVS:: NC_000019.10:g.20172311_20172312del, NC_000019.9:g.20283120_20283121del, NW_003571053.2:g.89564_89565del

Select item 14912636206.

rs1491263620 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:20178725 (GRCh38)
19:20289534 (GRCh37)
Canonical SPDI:: NC_000019.10:20178723:TAT:T
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.20178725_20178726del, NC_000019.9:g.20289534_20289535del, NW_003571053.2:g.95978_95979del

Select item 14911867837.

rs1491186783 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:20178724 (GRCh38)
19:20289534 (GRCh37)
Canonical SPDI:: NC_000019.10:20178724:A:AA
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000086/12 (GnomAD)
A=0.000166/44 (TOPMED)
HGVS:: NC_000019.10:g.20178725dup, NC_000019.9:g.20289534dup, NW_003571053.2:g.95978dup

Select item 14911448338.

rs1491144833 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 19:20169889 (GRCh38)
19:20280699 (GRCh37)
Canonical SPDI:: NC_000019.10:20169889:T:TGT
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.20169890_20169891insGT, NC_000019.9:g.20280699_20280700insGT, NW_003571053.2:g.87143_87144insGT

Select item 14911145929.

rs1491114592 has merged into rs1196261105 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:20168858 (GRCh38)
19:20279667 (GRCh37)
Canonical SPDI:: NC_000019.10:20168848:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:20168848:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:20168848:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:20168848:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00025/4 (TOMMO)
T=0.00167/1 (NorthernSweden)
HGVS:: NC_000019.10:g.20168858_20168860del, NC_000019.10:g.20168860del, NC_000019.10:g.20168860dup, NC_000019.10:g.20168859_20168860dup, NC_000019.9:g.20279667_20279669del, NC_000019.9:g.20279669del, NC_000019.9:g.20279669dup, NC_000019.9:g.20279668_20279669dup, NW_003571053.2:g.86111_86113del, NW_003571053.2:g.86113del, NW_003571053.2:g.86113dup, NW_003571053.2:g.86112_86113dup

Select item 149090282910.

rs1490902829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:20196270 (GRCh38)
19:20307079 (GRCh37)
Canonical SPDI:: NC_000019.10:20196269:C:T
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.20196270C>T, NC_000019.9:g.20307079C>T, NW_003571053.2:g.113523C>T

Select item 149089819211.

rs1490898192 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTCA>- [Show Flanks]
Chromosome:: 19:20195474 (GRCh38)
19:20306283 (GRCh37)
Canonical SPDI:: NC_000019.10:20195469:TTCAATTCA:TTCA
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.20195474_20195478del, NC_000019.9:g.20306283_20306287del, NW_003571053.2:g.112727_112731del

Select item 149078273412.

rs1490782734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20184769 (GRCh38)
19:20295578 (GRCh37)
Canonical SPDI:: NC_000019.10:20184768:T:C
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.20184769T>C, NC_000019.9:g.20295578T>C, NW_003571053.2:g.102022T>C

Select item 149070774113.

rs1490707741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:20174919 (GRCh38)
19:20285728 (GRCh37)
Canonical SPDI:: NC_000019.10:20174918:T:A,NC_000019.10:20174918:T:C
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.20174919T>A, NC_000019.10:g.20174919T>C, NC_000019.9:g.20285728T>A, NC_000019.9:g.20285728T>C, NG_043184.1:g.2245A>T, NG_043184.1:g.2245A>G, NW_003571053.2:g.92172T>A, NW_003571053.2:g.92172T>C

Select item 149065188414.

rs1490651884 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:20175248 (GRCh38)
19:20286057 (GRCh37)
Canonical SPDI:: NC_000019.10:20175247:A:
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.20175248del, NC_000019.9:g.20286057del, NG_043184.1:g.1916del, NW_003571053.2:g.92501del

Select item 149061915015.

rs1490619150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:20185138 (GRCh38)
19:20295947 (GRCh37)
Canonical SPDI:: NC_000019.10:20185137:A:G
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.20185138A>G, NC_000019.9:g.20295947A>G, NW_003571053.2:g.102391A>G

Select item 149059621316.

rs1490596213 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTT>- [Show Flanks]
Chromosome:: 19:20175731 (GRCh38)
19:20286540 (GRCh37)
Canonical SPDI:: NC_000019.10:20175727:CTTCTT:CTT
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTTCTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.20175728CTT[1], NC_000019.9:g.20286537CTT[1], NG_043184.1:g.1431AAG[1], NW_003571053.2:g.92981CTT[1]

Select item 149050853717.

rs1490508537 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:20190769 (GRCh38)
19:20301578 (GRCh37)
Canonical SPDI:: NC_000019.10:20190768:T:A
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.20190769T>A, NC_000019.9:g.20301578T>A, NW_003571053.2:g.108022T>A

Select item 149047951818.

rs1490479518 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20179848 (GRCh38)
19:20290657 (GRCh37)
Canonical SPDI:: NC_000019.10:20179847:T:C
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000142/2 (TOMMO)
C=0.000684/2 (KOREAN)
T=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.20179848T>C, NC_000019.9:g.20290657T>C, NW_003571053.2:g.97101T>C

Select item 149042933119.

rs1490429331 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:20179142 (GRCh38)
19:20289951 (GRCh37)
Canonical SPDI:: NC_000019.10:20179141:T:C
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00006/16 (TOPMED)
HGVS:: NC_000019.10:g.20179142T>C, NC_000019.9:g.20289951T>C, NW_003571053.2:g.96395T>C

Select item 149032136520.

rs1490321365 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 19:20183652 (GRCh38)
19:20294461 (GRCh37)
Canonical SPDI:: NC_000019.10:20183649:CTCTCT:CT,NC_000019.10:20183649:CTCTCT:CTCT
Gene:: ZNF486 (Varview), LOC105372310 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000019.10:g.20183650CT[1], NC_000019.10:g.20183650CT[2], NC_000019.9:g.20294459CT[1], NC_000019.9:g.20294459CT[2], NW_003571053.2:g.100903CT[1], NW_003571053.2:g.100903CT[2]

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