SNP Links for Gene (Select 26035) - SNP

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Select item 14915550341.

rs1491555034 has merged into rs34522584 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:69166919 (GRCh38)
15:69459258 (GRCh37)
Canonical SPDI:: NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69166908:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLCE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.69166919_69166933del, NC_000015.10:g.69166921_69166933del, NC_000015.10:g.69166922_69166933del, NC_000015.10:g.69166923_69166933del, NC_000015.10:g.69166925_69166933del, NC_000015.10:g.69166926_69166933del, NC_000015.10:g.69166927_69166933del, NC_000015.10:g.69166928_69166933del, NC_000015.10:g.69166929_69166933del, NC_000015.10:g.69166930_69166933del, NC_000015.10:g.69166931_69166933del, NC_000015.10:g.69166932_69166933del, NC_000015.10:g.69166933del, NC_000015.10:g.69166933dup, NC_000015.10:g.69166932_69166933dup, NC_000015.10:g.69166931_69166933dup, NC_000015.10:g.69166930_69166933dup, NC_000015.10:g.69166929_69166933dup, NC_000015.10:g.69166928_69166933dup, NC_000015.10:g.69166926_69166933dup, NC_000015.9:g.69459258_69459272del, NC_000015.9:g.69459260_69459272del, NC_000015.9:g.69459261_69459272del, NC_000015.9:g.69459262_69459272del, NC_000015.9:g.69459264_69459272del, NC_000015.9:g.69459265_69459272del, NC_000015.9:g.69459266_69459272del, NC_000015.9:g.69459267_69459272del, NC_000015.9:g.69459268_69459272del, NC_000015.9:g.69459269_69459272del, NC_000015.9:g.69459270_69459272del, NC_000015.9:g.69459271_69459272del, NC_000015.9:g.69459272del, NC_000015.9:g.69459272dup, NC_000015.9:g.69459271_69459272dup, NC_000015.9:g.69459270_69459272dup, NC_000015.9:g.69459269_69459272dup, NC_000015.9:g.69459268_69459272dup, NC_000015.9:g.69459267_69459272dup, NC_000015.9:g.69459265_69459272dup

Select item 14915071092.

rs1491507109 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:69221862 (GRCh38)
15:69514201 (GRCh37)
Canonical SPDI:: NC_000015.10:69221861:CA:
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.69221862_69221863del, NC_000015.9:g.69514201_69514202del

Select item 14913254253.

rs1491325425 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:69245332 (GRCh38)
15:69537671 (GRCh37)
Canonical SPDI:: NC_000015.10:69245331:CA:
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000015.10:g.69245332_69245333del, NC_000015.9:g.69537671_69537672del

Select item 14912816294.

rs1491281629 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:69167824 (GRCh38)
15:69460164 (GRCh37)
Canonical SPDI:: NC_000015.10:69167824::G
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/4 (GnomAD)
G=0.00099/16 (TOMMO)
HGVS:: NC_000015.10:g.69167824_69167825insG, NC_000015.9:g.69460163_69460164insG

Select item 14912766925.

rs1491276692 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:69166908 (GRCh38)
15:69459247 (GRCh37)
Canonical SPDI:: NC_000015.10:69166907:CA:
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00253/30 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000015.10:g.69166908_69166909del, NC_000015.9:g.69459247_69459248del

Select item 14912426476.

rs1491242647 has merged into rs79073362 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 15:69167839 (GRCh38)
15:69460178 (GRCh37)
Canonical SPDI:: NC_000015.10:69167823:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:69167823:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:69167823:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:69167823:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:69167823:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:69167823:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.12667/76 (NorthernSweden)
-=0.5/4 (KOREAN)
HGVS:: NC_000015.10:g.69167839_69167841del, NC_000015.10:g.69167840_69167841del, NC_000015.10:g.69167841del, NC_000015.10:g.69167841dup, NC_000015.10:g.69167840_69167841dup, NC_000015.10:g.69167839_69167841dup, NC_000015.9:g.69460178_69460180del, NC_000015.9:g.69460179_69460180del, NC_000015.9:g.69460180del, NC_000015.9:g.69460180dup, NC_000015.9:g.69460179_69460180dup, NC_000015.9:g.69460178_69460180dup

Select item 14911015257.

rs1491101525 has merged into rs35986310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:69221875 (GRCh38)
15:69514214 (GRCh37)
Canonical SPDI:: NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:69221862:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLCE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.270767/1356 (1000Genomes)
HGVS:: NC_000015.10:g.69221875_69221885del, NC_000015.10:g.69221877_69221885del, NC_000015.10:g.69221878_69221885del, NC_000015.10:g.69221879_69221885del, NC_000015.10:g.69221881_69221885del, NC_000015.10:g.69221882_69221885del, NC_000015.10:g.69221883_69221885del, NC_000015.10:g.69221884_69221885del, NC_000015.10:g.69221885del, NC_000015.10:g.69221885dup, NC_000015.10:g.69221884_69221885dup, NC_000015.10:g.69221883_69221885dup, NC_000015.10:g.69221882_69221885dup, NC_000015.10:g.69221881_69221885dup, NC_000015.9:g.69514214_69514224del, NC_000015.9:g.69514216_69514224del, NC_000015.9:g.69514217_69514224del, NC_000015.9:g.69514218_69514224del, NC_000015.9:g.69514220_69514224del, NC_000015.9:g.69514221_69514224del, NC_000015.9:g.69514222_69514224del, NC_000015.9:g.69514223_69514224del, NC_000015.9:g.69514224del, NC_000015.9:g.69514224dup, NC_000015.9:g.69514223_69514224dup, NC_000015.9:g.69514222_69514224dup, NC_000015.9:g.69514221_69514224dup, NC_000015.9:g.69514220_69514224dup

Select item 14910654498.

rs1491065449 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:69243077 (GRCh38)
15:69535416 (GRCh37)
Canonical SPDI:: NC_000015.10:69243075:AGA:A
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000122/2 (ALFA)
-=0.000597/82 (GnomAD)
HGVS:: NC_000015.10:g.69243077_69243078del, NC_000015.9:g.69535416_69535417del

Select item 14910561019.

rs1491056101 has merged into rs35924437 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT,GTGTGT,GTGTGTGT [Show Flanks]
Chromosome:: 15:69232465 (GRCh38)
15:69524804 (GRCh37)
Canonical SPDI:: NC_000015.10:69232452:GTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000015.10:69232452:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000015.10:69232452:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000015.10:69232452:GTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.3283/197 (NorthernSweden)
GT=0.3577/357 (GoNL)
GT=0.3616/1620 (Estonian)
-=0.4758/2383 (1000Genomes)
HGVS:: NC_000015.10:g.69232453GT[6], NC_000015.10:g.69232453GT[8], NC_000015.10:g.69232453GT[9], NC_000015.10:g.69232453GT[10], NC_000015.9:g.69524792GT[6], NC_000015.9:g.69524792GT[8], NC_000015.9:g.69524792GT[9], NC_000015.9:g.69524792GT[10]

Select item 149096075310.

rs1490960753 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 149095806111.

rs1490958061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:69213447 (GRCh38)
15:69505786 (GRCh37)
Canonical SPDI:: NC_000015.10:69213446:C:G
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.69213447C>G, NC_000015.9:g.69505786C>G

Select item 149090917912.

rs1490909179 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:69230429 (GRCh38)
15:69522768 (GRCh37)
Canonical SPDI:: NC_000015.10:69230428:T:C
Gene:: GLCE (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_000015.10:g.69230429T>C, NC_000015.9:g.69522768T>C

Select item 149090838813.

rs1490908388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:69255268 (GRCh38)
15:69547607 (GRCh37)
Canonical SPDI:: NC_000015.10:69255267:T:C
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.69255268T>C, NC_000015.9:g.69547607T>C

Select item 149086725514.

rs1490867255 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:69170202 (GRCh38)
15:69462541 (GRCh37)
Canonical SPDI:: NC_000015.10:69170201:T:G
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.69170202T>G, NC_000015.9:g.69462541T>G

Select item 149082001415.

rs1490820014 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCATAT [Show Flanks]
Chromosome:: 15:69247995 (GRCh38)
15:69540335 (GRCh37)
Canonical SPDI:: NC_000015.10:69247995:TCCATAT:TCCATATCCATAT
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCCATATCCATAT=0./0 (ALFA)
HGVS:: NC_000015.10:g.69247997_69248002dup, NC_000015.9:g.69540336_69540341dup

Select item 149079357616.

rs1490793576 has merged into rs60267132 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 15:69246730 (GRCh38)
15:69539069 (GRCh37)
Canonical SPDI:: NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:69246717:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.35/14 (GENOME_DK)
HGVS:: NC_000015.10:g.69246730_69246734del, NC_000015.10:g.69246732_69246734del, NC_000015.10:g.69246733_69246734del, NC_000015.10:g.69246734del, NC_000015.10:g.69246734dup, NC_000015.10:g.69246733_69246734dup, NC_000015.10:g.69246732_69246734dup, NC_000015.9:g.69539069_69539073del, NC_000015.9:g.69539071_69539073del, NC_000015.9:g.69539072_69539073del, NC_000015.9:g.69539073del, NC_000015.9:g.69539073dup, NC_000015.9:g.69539072_69539073dup, NC_000015.9:g.69539071_69539073dup

Select item 149077694617.

rs1490776946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:69168502 (GRCh38)
15:69460841 (GRCh37)
Canonical SPDI:: NC_000015.10:69168501:A:G
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
G=0.0004/2 (Estonian)
HGVS:: NC_000015.10:g.69168502A>G, NC_000015.9:g.69460841A>G

Select item 149073887218.

rs1490738872 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:69178078 (GRCh38)
15:69470417 (GRCh37)
Canonical SPDI:: NC_000015.10:69178077:A:G
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.69178078A>G, NC_000015.9:g.69470417A>G

Select item 149071557119.

rs1490715571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:69195252 (GRCh38)
15:69487591 (GRCh37)
Canonical SPDI:: NC_000015.10:69195251:A:G
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.69195252A>G, NC_000015.9:g.69487591A>G

Select item 149065537720.

rs1490655377 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:69223371 (GRCh38)
15:69515710 (GRCh37)
Canonical SPDI:: NC_000015.10:69223370:T:C
Gene:: GLCE (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.000354/6 (TOMMO)
C=0.002053/6 (KOREAN)
HGVS:: NC_000015.10:g.69223371T>C, NC_000015.9:g.69515710T>C

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