SNP Links for Gene (Select 84248) - SNP

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Select item 14915482281.

rs1491548228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 3:197752647 (GRCh38)
3:197479519 (GRCh37)
Canonical SPDI:: NC_000003.12:197752647:A:ACA
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000043/6 (GnomAD)
HGVS:: NC_000003.12:g.197752648_197752649insCA, NC_000003.11:g.197479519_197479520insCA, NG_034153.2:g.2052_2053insGT

Select item 14915328802.

rs1491532880 has merged into rs528633535 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT [Show Flanks]
Chromosome:: 3:197752652 (GRCh38)
3:197479523 (GRCh37)
Canonical SPDI:: NC_000003.12:197752646:TATATATAT:TATAT,NC_000003.12:197752646:TATATATAT:TATATAT,NC_000003.12:197752646:TATATATAT:TATATATATAT
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
-=0.00078/4 (1000Genomes)
HGVS:: NC_000003.12:g.197752648AT[2], NC_000003.12:g.197752648AT[3], NC_000003.12:g.197752648AT[5], NC_000003.11:g.197479519AT[2], NC_000003.11:g.197479519AT[3], NC_000003.11:g.197479519AT[5], NG_034153.2:g.2046TA[2], NG_034153.2:g.2046TA[3], NG_034153.2:g.2046TA[5]

Select item 14914837943.

rs1491483794 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:197759456 (GRCh38)
3:197486328 (GRCh37)
Canonical SPDI:: NC_000003.12:197759456:T:TT
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000003.12:g.197759457dup, NC_000003.11:g.197486328dup

Select item 14914746834.

rs1491474683 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGA [Show Flanks]
Chromosome:: 3:197779551 (GRCh38)
3:197506423 (GRCh37)
Canonical SPDI:: NC_000003.12:197779551::TGA
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGA=0./0 (ALFA)
HGVS:: NC_000003.12:g.197779551_197779552insTGA, NC_000003.11:g.197506422_197506423insTGA

Select item 14914422425.

rs1491442242 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:197755611 (GRCh38)
3:197482482 (GRCh37)
Canonical SPDI:: NC_000003.12:197755610:AA:
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000015/2 (GnomAD)
HGVS:: NC_000003.12:g.197755611_197755612del, NC_000003.11:g.197482482_197482483del

Select item 14913359606.

rs1491335960 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:197759458 (GRCh38)
3:197486329 (GRCh37)
Canonical SPDI:: NC_000003.12:197759455:GTGT:GT
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.197759456GT[1], NC_000003.11:g.197486327GT[1]

Select item 14913202337.

rs1491320233 has merged into rs111725145 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:197766447 (GRCh38)
3:197493318 (GRCh37)
Canonical SPDI:: NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:197766430:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000003.12:g.197766431GT[8], NC_000003.12:g.197766431GT[9], NC_000003.12:g.197766431GT[10], NC_000003.12:g.197766431GT[11], NC_000003.12:g.197766431GT[12], NC_000003.12:g.197766431GT[13], NC_000003.12:g.197766431GT[14], NC_000003.12:g.197766431GT[16], NC_000003.12:g.197766431GT[17], NC_000003.12:g.197766431GT[18], NC_000003.12:g.197766431GT[19], NC_000003.12:g.197766431GT[20], NC_000003.12:g.197766431GT[21], NC_000003.12:g.197766431GT[22], NC_000003.12:g.197766431GT[23], NC_000003.12:g.197766431GT[24], NC_000003.12:g.197766431GT[25], NC_000003.12:g.197766431GT[26], NC_000003.12:g.197766431GT[27], NC_000003.12:g.197766431GT[28], NC_000003.12:g.197766431GT[29], NC_000003.12:g.197766431GT[30], NC_000003.12:g.197766431GT[31], NC_000003.12:g.197766431GT[32], NC_000003.12:g.197766431GT[36], NC_000003.11:g.197493302GT[8], NC_000003.11:g.197493302GT[9], NC_000003.11:g.197493302GT[10], NC_000003.11:g.197493302GT[11], NC_000003.11:g.197493302GT[12], NC_000003.11:g.197493302GT[13], NC_000003.11:g.197493302GT[14], NC_000003.11:g.197493302GT[16], NC_000003.11:g.197493302GT[17], NC_000003.11:g.197493302GT[18], NC_000003.11:g.197493302GT[19], NC_000003.11:g.197493302GT[20], NC_000003.11:g.197493302GT[21], NC_000003.11:g.197493302GT[22], NC_000003.11:g.197493302GT[23], NC_000003.11:g.197493302GT[24], NC_000003.11:g.197493302GT[25], NC_000003.11:g.197493302GT[26], NC_000003.11:g.197493302GT[27], NC_000003.11:g.197493302GT[28], NC_000003.11:g.197493302GT[29], NC_000003.11:g.197493302GT[30], NC_000003.11:g.197493302GT[31], NC_000003.11:g.197493302GT[32], NC_000003.11:g.197493302GT[36]

Select item 14911945178.

rs1491194517 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:197779551 (GRCh38)
3:197506422 (GRCh37)
Canonical SPDI:: NC_000003.12:197779550:GA:
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00203/9 (ALFA)
-=0.00021/6 (TOMMO)
HGVS:: NC_000003.12:g.197779551_197779552del, NC_000003.11:g.197506422_197506423del

Select item 14911683279.

rs1491168327 has merged into rs746851412 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 3:197766176 (GRCh38)
3:197493047 (GRCh37)
Canonical SPDI:: NC_000003.12:197766162:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:197766162:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:197766162:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:197766162:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:197766162:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:197766162:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000003.12:g.197766176_197766179del, NC_000003.12:g.197766177_197766179del, NC_000003.12:g.197766178_197766179del, NC_000003.12:g.197766179del, NC_000003.12:g.197766179dup, NC_000003.12:g.197766178_197766179dup, NC_000003.11:g.197493047_197493050del, NC_000003.11:g.197493048_197493050del, NC_000003.11:g.197493049_197493050del, NC_000003.11:g.197493050del, NC_000003.11:g.197493050dup, NC_000003.11:g.197493049_197493050dup

Select item 149115448310.

rs1491154483 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:197766162 (GRCh38)
3:197493033 (GRCh37)
Canonical SPDI:: NC_000003.12:197766161:CA:
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.197766162_197766163del, NC_000003.11:g.197493033_197493034del

Select item 149101009811.

rs1491010098 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 3:197766429 (GRCh38)
3:197493300 (GRCh37)
Canonical SPDI:: NC_000003.12:197766428:TG:
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00006/1 (GnomAD)
HGVS:: NC_000003.12:g.197766429_197766430del, NC_000003.11:g.197493300_197493301del

Select item 149082583612.

rs1490825836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:197774788 (GRCh38)
3:197501659 (GRCh37)
Canonical SPDI:: NC_000003.12:197774787:T:G
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01155/137 (ALFA)
G=0.00078/13 (TOMMO)
G=0.00109/7 (1000Genomes)
G=0.00164/3 (Korea1K)
G=0.04623/135 (KOREAN)
HGVS:: NC_000003.12:g.197774788T>G, NC_000003.11:g.197501659T>G

Select item 149069892413.

rs1490698924 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:197761949 (GRCh38)
3:197488820 (GRCh37)
Canonical SPDI:: NC_000003.12:197761948:G:C
Gene:: FYTTD1 (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)
HGVS:: NC_000003.12:g.197761949G>C, NC_000003.11:g.197488820G>C

Select item 149068727414.

rs1490687274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:197772902 (GRCh38)
3:197499773 (GRCh37)
Canonical SPDI:: NC_000003.12:197772901:C:T
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.197772902C>T, NC_000003.11:g.197499773C>T

Select item 149067755815.

rs1490677558 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197773940 (GRCh38)
3:197500811 (GRCh37)
Canonical SPDI:: NC_000003.12:197773939:A:G
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197773940A>G, NC_000003.11:g.197500811A>G

Select item 149053701316.

rs1490537013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:197761472 (GRCh38)
3:197488343 (GRCh37)
Canonical SPDI:: NC_000003.12:197761471:A:G
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.00003/8 (TOPMED)
G=0.000849/14 (TOMMO)
G=0.002053/6 (KOREAN)
HGVS:: NC_000003.12:g.197761472A>G, NC_000003.11:g.197488343A>G

Select item 149050901317.

rs1490509013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:197774420 (GRCh38)
3:197501291 (GRCh37)
Canonical SPDI:: NC_000003.12:197774419:C:A
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.197774420C>A, NC_000003.11:g.197501291C>A

Select item 149046019318.

rs1490460193 has merged into rs145253794 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTA>-,ATTAATTA [Show Flanks]
Chromosome:: 3:197751883 (GRCh38)
3:197478754 (GRCh37)
Canonical SPDI:: NC_000003.12:197751865:AATTAATTAATTAATTAATTA:AATTAATTAATTAATTA,NC_000003.12:197751865:AATTAATTAATTAATTAATTA:AATTAATTAATTAATTAATTAATTA
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATTAATTAATTAATTA=0.000429/7 (ALFA)
-=0.001563/7 (Estonian)
-=0.003578/947 (TOPMED)
-=0.011581/58 (1000Genomes)
-=0.049083/823 (TOMMO)
-=0.051856/95 (Korea1K)
-=0.060185/13 (Vietnamese)
HGVS:: NC_000003.12:g.197751867ATTA[4], NC_000003.12:g.197751867ATTA[6], NC_000003.11:g.197478738ATTA[4], NC_000003.11:g.197478738ATTA[6], NG_034153.2:g.2815AATT[4], NG_034153.2:g.2815AATT[6]

Select item 149043168019.

rs1490431680 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 3:197761425 (GRCh38)
3:197488296 (GRCh37)
Canonical SPDI:: NC_000003.12:197761421:GTTGTT:GTT
Gene:: FYTTD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTGTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.197761422GTT[1], NC_000003.11:g.197488293GTT[1]

Select item 149038031020.

rs1490380310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:197774158 (GRCh38)
3:197501029 (GRCh37)
Canonical SPDI:: NC_000003.12:197774157:C:A,NC_000003.12:197774157:C:T
Gene:: FYTTD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000032/8 (GnomAD_exomes)
A=0.000114/16 (GnomAD)
A=0.000185/49 (TOPMED)
HGVS:: NC_000003.12:g.197774158C>A, NC_000003.12:g.197774158C>T, NC_000003.11:g.197501029C>A, NC_000003.11:g.197501029C>T, NM_032288.7:c.604C>A, NM_032288.7:c.604C>T, NM_032288.6:c.604C>A, NM_032288.6:c.604C>T, NM_001011537.3:c.526C>A, NM_001011537.3:c.526C>T, NM_001011537.2:c.526C>A, NM_001011537.2:c.526C>T, NR_027840.2:n.1077C>A, NR_027840.2:n.1077C>T, NR_027840.1:n.934C>A, NR_027840.1:n.934C>T, NP_115664.2:p.Gln202Lys, NP_115664.2:p.Gln202Ter, NP_001011537.2:p.Gln176Lys, NP_001011537.2:p.Gln176Ter

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