SNP Links for Gene (Select 3294) - SNP

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Select item 14915872931.

rs1491587293 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATATATATATACACATATATAT [Show Flanks]
Chromosome:: 16:82097278 (GRCh38)
16:82130883 (GRCh37)
Canonical SPDI:: NC_000016.10:82097276:TAT:T,NC_000016.10:82097276:TAT:TATATATATATACACATATATAT
Gene:: HSD17B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00198/33 (TOMMO)
-=0.006/11 (Korea1K)
-=0.01/6 (NorthernSweden)
-=0.03107/199 (1000Genomes)
HGVS:: NC_000016.10:g.82097278_82097279del, NC_000016.10:g.82097277_82097279TA[6]CA[2]TA[3]T[1], NC_000016.9:g.82130883_82130884del, NC_000016.9:g.82130882_82130884TA[6]CA[2]TA[3]T[1]

Select item 14915491692.

rs1491549169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: 16:82036321 (GRCh38)
16:82069927 (GRCh37)
Canonical SPDI:: NC_000016.10:82036321:GTG:GTGCGTG
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGCGTG=0./0 (ALFA)
GTGC=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.82036324_82036325insCGTG, NC_000016.9:g.82069929_82069930insCGTG

Select item 14914880843.

rs1491488084 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:82097308 (GRCh38)
16:82130914 (GRCh37)
Canonical SPDI:: NC_000016.10:82097308:T:TT
Gene:: HSD17B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.82097309dup, NC_000016.9:g.82130914dup

Select item 14911771174.

rs1491177117 has merged into rs10609893 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:82036334 (GRCh38)
16:82069939 (GRCh37)
Canonical SPDI:: NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:82036320:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTG=0.000431/114 (TOPMED)
TGTGTGTGTG=0.5/20 (GENOME_DK)
HGVS:: NC_000016.10:g.82036322GT[6], NC_000016.10:g.82036322GT[7], NC_000016.10:g.82036322GT[8], NC_000016.10:g.82036322GT[9], NC_000016.10:g.82036322GT[10], NC_000016.10:g.82036322GT[11], NC_000016.10:g.82036322GT[12], NC_000016.10:g.82036322GT[13], NC_000016.10:g.82036322GT[14], NC_000016.10:g.82036322GT[15], NC_000016.10:g.82036322GT[16], NC_000016.10:g.82036322GT[17], NC_000016.10:g.82036322GT[18], NC_000016.10:g.82036322GT[19], NC_000016.10:g.82036322GT[20], NC_000016.10:g.82036322GT[22], NC_000016.10:g.82036322GT[23], NC_000016.10:g.82036322GT[24], NC_000016.10:g.82036322GT[25], NC_000016.10:g.82036322GT[26], NC_000016.10:g.82036322GT[27], NC_000016.10:g.82036322GT[28], NC_000016.10:g.82036322GT[30], NC_000016.10:g.82036322GT[31], NC_000016.9:g.82069927GT[6], NC_000016.9:g.82069927GT[7], NC_000016.9:g.82069927GT[8], NC_000016.9:g.82069927GT[9], NC_000016.9:g.82069927GT[10], NC_000016.9:g.82069927GT[11], NC_000016.9:g.82069927GT[12], NC_000016.9:g.82069927GT[13], NC_000016.9:g.82069927GT[14], NC_000016.9:g.82069927GT[15], NC_000016.9:g.82069927GT[16], NC_000016.9:g.82069927GT[17], NC_000016.9:g.82069927GT[18], NC_000016.9:g.82069927GT[19], NC_000016.9:g.82069927GT[20], NC_000016.9:g.82069927GT[22], NC_000016.9:g.82069927GT[23], NC_000016.9:g.82069927GT[24], NC_000016.9:g.82069927GT[25], NC_000016.9:g.82069927GT[26], NC_000016.9:g.82069927GT[27], NC_000016.9:g.82069927GT[28], NC_000016.9:g.82069927GT[30], NC_000016.9:g.82069927GT[31]

Select item 14911267195.

rs1491126719 has merged into rs148943235 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 16:82072220 (GRCh38)
16:82105825 (GRCh37)
Canonical SPDI:: NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGA,NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGAGA,NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGA,NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000016.10:82072211:GAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGA=0./0 (ALFA)
GA=0.00042/7 (TOMMO)
-=0.00234/9 (ALSPAC)
GA=0.01977/99 (1000Genomes)
HGVS:: NC_000016.10:g.82072212GA[4], NC_000016.10:g.82072212GA[5], NC_000016.10:g.82072212GA[6], NC_000016.10:g.82072212GA[7], NC_000016.10:g.82072212GA[8], NC_000016.10:g.82072212GA[10], NC_000016.10:g.82072212GA[11], NC_000016.9:g.82105817GA[4], NC_000016.9:g.82105817GA[5], NC_000016.9:g.82105817GA[6], NC_000016.9:g.82105817GA[7], NC_000016.9:g.82105817GA[8], NC_000016.9:g.82105817GA[10], NC_000016.9:g.82105817GA[11]

Select item 14911061836.

rs1491106183 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATACATACACAT,ATATATACACAT,ATATATATACACAT [Show Flanks]
Chromosome:: 16:82097277 (GRCh38)
16:82130883 (GRCh37)
Canonical SPDI:: NC_000016.10:82097277:AT:ATATATACATACACAT,NC_000016.10:82097277:AT:ATATATATACACAT,NC_000016.10:82097277:AT:ATATATATATACACAT
Gene:: HSD17B2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATACACAT=0./0 (ALFA)
ATATATATATACAC=0.00055/1 (Korea1K)
ATATATATATACAC=0.00085/14 (TOMMO)
ATATATATATACAC=0.02167/13 (NorthernSweden)
HGVS:: NC_000016.10:g.82097278_82097279AT[3]ACATACACAT[1], NC_000016.10:g.82097278_82097279AT[4]AC[2]AT[1], NC_000016.10:g.82097278_82097279AT[5]AC[2]AT[1], NC_000016.9:g.82130883_82130884AT[3]ACATACACAT[1], NC_000016.9:g.82130883_82130884AT[4]AC[2]AT[1], NC_000016.9:g.82130883_82130884AT[5]AC[2]AT[1]

Select item 14909965007.

rs1490996500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 16:82037393 (GRCh38)
16:82070998 (GRCh37)
Canonical SPDI:: NC_000016.10:82037391:TTT:T
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.82037393_82037394del, NC_000016.9:g.82070998_82070999del

Select item 14909699928.

rs1490969992 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 16:82058542 (GRCh38)
16:82092147 (GRCh37)
Canonical SPDI:: NC_000016.10:82058541:A:
Gene:: HSD17B2 (Varview), LOC105371363 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.82058542del, NC_000016.9:g.82092147del

Select item 14909523339.

rs1490952333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:82090315 (GRCh38)
16:82123920 (GRCh37)
Canonical SPDI:: NC_000016.10:82090314:T:G
Gene:: HSD17B2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000169/2 (ALFA)
G=0.000101/11 (GnomAD)
HGVS:: NC_000016.10:g.82090315T>G, NC_000016.9:g.82123920T>G

Select item 149090715910.

rs1490907159 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:82049535 (GRCh38)
16:82083140 (GRCh37)
Canonical SPDI:: NC_000016.10:82049534:C:G
Gene:: HSD17B2 (Varview), LOC105371363 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.82049535C>G, NC_000016.9:g.82083140C>G, XR_007065140.1:n.6598G>C

Select item 149090657611.

rs1490906576 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:82086291 (GRCh38)
16:82119896 (GRCh37)
Canonical SPDI:: NC_000016.10:82086290:C:T
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.82086291C>T, NC_000016.9:g.82119896C>T

Select item 149086689912.

rs1490866899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:82084491 (GRCh38)
16:82118096 (GRCh37)
Canonical SPDI:: NC_000016.10:82084490:G:C
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.82084491G>C, NC_000016.9:g.82118096G>C

Select item 149085902113.

rs1490859021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:82060733 (GRCh38)
16:82094338 (GRCh37)
Canonical SPDI:: NC_000016.10:82060732:G:A
Gene:: HSD17B2 (Varview), LOC105371363 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.82060733G>A, NC_000016.9:g.82094338G>A

Select item 149085751614.

rs1490857516 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 16:82060433 (GRCh38)
16:82094038 (GRCh37)
Canonical SPDI:: NC_000016.10:82060432:GGGGG:GGGG
Gene:: HSD17B2 (Varview), LOC105371363 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000142/2 (ALFA)
-=0.000132/35 (TOPMED)
-=0.000193/27 (GnomAD)
HGVS:: NC_000016.10:g.82060437del, NC_000016.9:g.82094042del

Select item 149080826015.

rs1490808260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:82061490 (GRCh38)
16:82095095 (GRCh37)
Canonical SPDI:: NC_000016.10:82061489:G:A
Gene:: HSD17B2 (Varview), LOC105371363 (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_000016.10:g.82061490G>A, NC_000016.9:g.82095095G>A

Select item 149079576616.

rs1490795766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:82073345 (GRCh38)
16:82106950 (GRCh37)
Canonical SPDI:: NC_000016.10:82073344:C:A
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.82073345C>A, NC_000016.9:g.82106950C>A

Select item 149075214117.

rs1490752141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:82045086 (GRCh38)
16:82078691 (GRCh37)
Canonical SPDI:: NC_000016.10:82045085:G:A
Gene:: HSD17B2 (Varview), LOC105371363 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000025/3 (GnomAD)
HGVS:: NC_000016.10:g.82045086G>A, NC_000016.9:g.82078691G>A, XR_007065140.1:n.11047C>T

Select item 149074749518.

rs1490747495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:82084517 (GRCh38)
16:82118122 (GRCh37)
Canonical SPDI:: NC_000016.10:82084516:T:C
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000071/2 (TOMMO)
C=0.001638/3 (Korea1K)
HGVS:: NC_000016.10:g.82084517T>C, NC_000016.9:g.82118122T>C

Select item 149071504019.

rs1490715040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:82096522 (GRCh38)
16:82130127 (GRCh37)
Canonical SPDI:: NC_000016.10:82096521:C:A
Gene:: HSD17B2 (Varview)
Functional Consequence:: genic_downstream_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_000016.10:g.82096522C>A, NC_000016.9:g.82130127C>A

Select item 149068299220.

rs1490682992 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:82043310 (GRCh38)
16:82076915 (GRCh37)
Canonical SPDI:: NC_000016.10:82043309:T:C
Gene:: HSD17B2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.82043310T>C, NC_000016.9:g.82076915T>C

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