SNP Links for Protein (Select 767929481) - SNP

Links from Protein

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Select item 14906365261.

rs1490636526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8294168 (GRCh38)
4:8295895 (GRCh37)
Canonical SPDI:: NC_000004.12:8294167:T:C
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8294168T>C, NC_000004.11:g.8295895T>C, NM_053044.5:c.1018T>C, NM_053044.4:c.1018T>C, NM_053044.3:c.1018T>C, XM_011513596.4:c.1018T>C, XM_011513596.3:c.1018T>C, XM_011513596.2:c.1018T>C, XM_011513596.1:c.1018T>C, NM_001297559.3:c.1018T>C, NM_001297559.2:c.1018T>C, NM_001297559.1:c.1018T>C, NP_444272.1:p.Phe340Leu, XP_011511898.1:p.Phe340Leu, NP_001284488.1:p.Phe340Leu

Select item 14889239312.

rs1488923931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:8270152 (GRCh38)
4:8271879 (GRCh37)
Canonical SPDI:: NC_000004.12:8270151:T:A
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.8270152T>A, NC_000004.11:g.8271879T>A, NM_053044.5:c.184T>A, NM_053044.4:c.184T>A, NM_053044.3:c.184T>A, XM_011513596.4:c.184T>A, XM_011513596.3:c.184T>A, XM_011513596.2:c.184T>A, XM_011513596.1:c.184T>A, NM_001297559.3:c.184T>A, NM_001297559.2:c.184T>A, NM_001297559.1:c.184T>A, XR_001741572.2:n.30A>T, XR_001741572.1:n.30A>T, NP_444272.1:p.Cys62Ser, XP_011511898.1:p.Cys62Ser, NP_001284488.1:p.Cys62Ser

Select item 14880118293.

rs1488011829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8282439 (GRCh38)
4:8284166 (GRCh37)
Canonical SPDI:: NC_000004.12:8282438:C:T
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.8282439C>T, NC_000004.11:g.8284166C>T, NM_053044.5:c.388C>T, NM_053044.4:c.388C>T, NM_053044.3:c.388C>T, XM_011513596.4:c.388C>T, XM_011513596.3:c.388C>T, XM_011513596.2:c.388C>T, XM_011513596.1:c.388C>T, NM_001297559.3:c.388C>T, NM_001297559.2:c.388C>T, NM_001297559.1:c.388C>T, NP_444272.1:p.Leu130Phe, XP_011511898.1:p.Leu130Phe, NP_001284488.1:p.Leu130Phe

Select item 14838935244.

rs1483893524 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:8286569 (GRCh38)
4:8288296 (GRCh37)
Canonical SPDI:: NC_000004.12:8286568:T:C
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000004.12:g.8286569T>C, NC_000004.11:g.8288296T>C, NM_053044.5:c.494T>C, NM_053044.4:c.494T>C, NM_053044.3:c.494T>C, XM_011513596.4:c.494T>C, XM_011513596.3:c.494T>C, XM_011513596.2:c.494T>C, XM_011513596.1:c.494T>C, NM_001297559.3:c.494T>C, NM_001297559.2:c.494T>C, NM_001297559.1:c.494T>C, NP_444272.1:p.Leu165Pro, XP_011511898.1:p.Leu165Pro, NP_001284488.1:p.Leu165Pro

Select item 14787602305.

rs1478760230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:8270348 (GRCh38)
4:8272075 (GRCh37)
Canonical SPDI:: NC_000004.12:8270347:C:G,NC_000004.12:8270347:C:T
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8270348C>G, NC_000004.12:g.8270348C>T, NC_000004.11:g.8272075C>G, NC_000004.11:g.8272075C>T, NM_053044.5:c.380C>G, NM_053044.5:c.380C>T, NM_053044.4:c.380C>G, NM_053044.4:c.380C>T, NM_053044.3:c.380C>G, NM_053044.3:c.380C>T, XM_011513596.4:c.380C>G, XM_011513596.4:c.380C>T, XM_011513596.3:c.380C>G, XM_011513596.3:c.380C>T, XM_011513596.2:c.380C>G, XM_011513596.2:c.380C>T, XM_011513596.1:c.380C>G, XM_011513596.1:c.380C>T, NM_001297559.3:c.380C>G, NM_001297559.3:c.380C>T, NM_001297559.2:c.380C>G, NM_001297559.2:c.380C>T, NM_001297559.1:c.380C>G, NM_001297559.1:c.380C>T, NP_444272.1:p.Pro127Arg, NP_444272.1:p.Pro127Leu, XP_011511898.1:p.Pro127Arg, XP_011511898.1:p.Pro127Leu, NP_001284488.1:p.Pro127Arg, NP_001284488.1:p.Pro127Leu

Select item 14787473826.

rs1478747382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:8270302 (GRCh38)
4:8272029 (GRCh37)
Canonical SPDI:: NC_000004.12:8270301:C:G
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000004.12:g.8270302C>G, NC_000004.11:g.8272029C>G, NM_053044.5:c.334C>G, NM_053044.4:c.334C>G, NM_053044.3:c.334C>G, XM_011513596.4:c.334C>G, XM_011513596.3:c.334C>G, XM_011513596.2:c.334C>G, XM_011513596.1:c.334C>G, NM_001297559.3:c.334C>G, NM_001297559.2:c.334C>G, NM_001297559.1:c.334C>G, NP_444272.1:p.Gln112Glu, XP_011511898.1:p.Gln112Glu, NP_001284488.1:p.Gln112Glu

Select item 14783925467.

rs1478392546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8286615 (GRCh38)
4:8288342 (GRCh37)
Canonical SPDI:: NC_000004.12:8286614:G:A
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8286615G>A, NC_000004.11:g.8288342G>A, NM_053044.5:c.540G>A, NM_053044.4:c.540G>A, NM_053044.3:c.540G>A, XM_011513596.4:c.540G>A, XM_011513596.3:c.540G>A, XM_011513596.2:c.540G>A, XM_011513596.1:c.540G>A, NM_001297559.3:c.540G>A, NM_001297559.2:c.540G>A, NM_001297559.1:c.540G>A, NP_444272.1:p.Met180Ile, XP_011511898.1:p.Met180Ile, NP_001284488.1:p.Met180Ile

Select item 14761370828.

rs1476137082 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8270111 (GRCh38)
4:8271838 (GRCh37)
Canonical SPDI:: NC_000004.12:8270110:G:A
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.8270111G>A, NC_000004.11:g.8271838G>A, NM_053044.5:c.143G>A, NM_053044.4:c.143G>A, NM_053044.3:c.143G>A, XM_011513596.4:c.143G>A, XM_011513596.3:c.143G>A, XM_011513596.2:c.143G>A, XM_011513596.1:c.143G>A, NM_001297559.3:c.143G>A, NM_001297559.2:c.143G>A, NM_001297559.1:c.143G>A, XR_001741572.2:n.71C>T, XR_001741572.1:n.71C>T, NP_444272.1:p.Cys48Tyr, XP_011511898.1:p.Cys48Tyr, NP_001284488.1:p.Cys48Tyr

Select item 14752158839.

rs1475215883 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:8291442 (GRCh38)
4:8293169 (GRCh37)
Canonical SPDI:: NC_000004.12:8291441:A:G
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.8291442A>G, NC_000004.11:g.8293169A>G, NM_053044.5:c.781A>G, NM_053044.4:c.781A>G, NM_053044.3:c.781A>G, XM_011513596.4:c.781A>G, XM_011513596.3:c.781A>G, XM_011513596.2:c.781A>G, XM_011513596.1:c.781A>G, NM_001297559.3:c.781A>G, NM_001297559.2:c.781A>G, NM_001297559.1:c.781A>G, NP_444272.1:p.Ser261Gly, XP_011511898.1:p.Ser261Gly, NP_001284488.1:p.Ser261Gly

Select item 147408010610.

rs1474080106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8270341 (GRCh38)
4:8272068 (GRCh37)
Canonical SPDI:: NC_000004.12:8270340:G:A
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8270341G>A, NC_000004.11:g.8272068G>A, NM_053044.5:c.373G>A, NM_053044.4:c.373G>A, NM_053044.3:c.373G>A, XM_011513596.4:c.373G>A, XM_011513596.3:c.373G>A, XM_011513596.2:c.373G>A, XM_011513596.1:c.373G>A, NM_001297559.3:c.373G>A, NM_001297559.2:c.373G>A, NM_001297559.1:c.373G>A, NP_444272.1:p.Ala125Thr, XP_011511898.1:p.Ala125Thr, NP_001284488.1:p.Ala125Thr

Select item 146687681511.

rs1466876815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:8286565 (GRCh38)
4:8288292 (GRCh37)
Canonical SPDI:: NC_000004.12:8286564:C:A,NC_000004.12:8286564:C:T
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.8286565C>A, NC_000004.12:g.8286565C>T, NC_000004.11:g.8288292C>A, NC_000004.11:g.8288292C>T, NM_053044.5:c.490C>A, NM_053044.5:c.490C>T, NM_053044.4:c.490C>A, NM_053044.4:c.490C>T, NM_053044.3:c.490C>A, NM_053044.3:c.490C>T, XM_011513596.4:c.490C>A, XM_011513596.4:c.490C>T, XM_011513596.3:c.490C>A, XM_011513596.3:c.490C>T, XM_011513596.2:c.490C>A, XM_011513596.2:c.490C>T, XM_011513596.1:c.490C>A, XM_011513596.1:c.490C>T, NM_001297559.3:c.490C>A, NM_001297559.3:c.490C>T, NM_001297559.2:c.490C>A, NM_001297559.2:c.490C>T, NM_001297559.1:c.490C>A, NM_001297559.1:c.490C>T, NP_444272.1:p.Pro164Thr, NP_444272.1:p.Pro164Ser, XP_011511898.1:p.Pro164Thr, XP_011511898.1:p.Pro164Ser, NP_001284488.1:p.Pro164Thr, NP_001284488.1:p.Pro164Ser

Select item 146441736512.

rs1464417365 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8270310 (GRCh38)
4:8272037 (GRCh37)
Canonical SPDI:: NC_000004.12:8270309:C:T
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.8270310C>T, NC_000004.11:g.8272037C>T, NM_053044.5:c.342C>T, NM_053044.4:c.342C>T, NM_053044.3:c.342C>T, XM_011513596.4:c.342C>T, XM_011513596.3:c.342C>T, XM_011513596.2:c.342C>T, XM_011513596.1:c.342C>T, NM_001297559.3:c.342C>T, NM_001297559.2:c.342C>T, NM_001297559.1:c.342C>T

Select item 146374193413.

rs1463741934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8270104 (GRCh38)
4:8271831 (GRCh37)
Canonical SPDI:: NC_000004.12:8270103:G:A
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_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_000004.12:g.8270104G>A, NC_000004.11:g.8271831G>A, NM_053044.5:c.136G>A, NM_053044.4:c.136G>A, NM_053044.3:c.136G>A, XM_011513596.4:c.136G>A, XM_011513596.3:c.136G>A, XM_011513596.2:c.136G>A, XM_011513596.1:c.136G>A, NM_001297559.3:c.136G>A, NM_001297559.2:c.136G>A, NM_001297559.1:c.136G>A, NP_444272.1:p.Asp46Asn, XP_011511898.1:p.Asp46Asn, NP_001284488.1:p.Asp46Asn

Select item 146098484514.

rs1460984845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:8270179 (GRCh38)
4:8271906 (GRCh37)
Canonical SPDI:: NC_000004.12:8270178:G:A
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.8270179G>A, NC_000004.11:g.8271906G>A, NM_053044.5:c.211G>A, NM_053044.4:c.211G>A, NM_053044.3:c.211G>A, XM_011513596.4:c.211G>A, XM_011513596.3:c.211G>A, XM_011513596.2:c.211G>A, XM_011513596.1:c.211G>A, NM_001297559.3:c.211G>A, NM_001297559.2:c.211G>A, NM_001297559.1:c.211G>A, XR_001741572.2:n.3C>T, XR_001741572.1:n.3C>T, NP_444272.1:p.Gly71Ser, XP_011511898.1:p.Gly71Ser, NP_001284488.1:p.Gly71Ser

Select item 145923858715.

rs1459238587 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8270033 (GRCh38)
4:8271760 (GRCh37)
Canonical SPDI:: NC_000004.12:8270032:C:T
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.8270033C>T, NC_000004.11:g.8271760C>T, NM_053044.5:c.65C>T, NM_053044.4:c.65C>T, NM_053044.3:c.65C>T, XM_011513596.4:c.65C>T, XM_011513596.3:c.65C>T, XM_011513596.2:c.65C>T, XM_011513596.1:c.65C>T, NM_001297559.3:c.65C>T, NM_001297559.2:c.65C>T, NM_001297559.1:c.65C>T, NP_444272.1:p.Ala22Val, XP_011511898.1:p.Ala22Val, NP_001284488.1:p.Ala22Val

Select item 145795912316.

rs1457959123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8270343 (GRCh38)
4:8272070 (GRCh37)
Canonical SPDI:: NC_000004.12:8270342:C:T
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.8270343C>T, NC_000004.11:g.8272070C>T, NM_053044.5:c.375C>T, NM_053044.4:c.375C>T, NM_053044.3:c.375C>T, XM_011513596.4:c.375C>T, XM_011513596.3:c.375C>T, XM_011513596.2:c.375C>T, XM_011513596.1:c.375C>T, NM_001297559.3:c.375C>T, NM_001297559.2:c.375C>T, NM_001297559.1:c.375C>T

Select item 145322605417.

rs1453226054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:8282518 (GRCh38)
4:8284245 (GRCh37)
Canonical SPDI:: NC_000004.12:8282517:A:G
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.8282518A>G, NC_000004.11:g.8284245A>G, NM_053044.5:c.467A>G, NM_053044.4:c.467A>G, NM_053044.3:c.467A>G, XM_011513596.4:c.467A>G, XM_011513596.3:c.467A>G, XM_011513596.2:c.467A>G, XM_011513596.1:c.467A>G, NM_001297559.3:c.467A>G, NM_001297559.2:c.467A>G, NM_001297559.1:c.467A>G, NP_444272.1:p.His156Arg, XP_011511898.1:p.His156Arg, NP_001284488.1:p.His156Arg

Select item 145067546618.

rs1450675466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:8286779 (GRCh38)
4:8288506 (GRCh37)
Canonical SPDI:: NC_000004.12:8286778:C:A
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.8286779C>A, NC_000004.11:g.8288506C>A, NM_053044.5:c.704C>A, NM_053044.4:c.704C>A, NM_053044.3:c.704C>A, XM_011513596.4:c.704C>A, XM_011513596.3:c.704C>A, XM_011513596.2:c.704C>A, XM_011513596.1:c.704C>A, NM_001297559.3:c.704C>A, NM_001297559.2:c.704C>A, NM_001297559.1:c.704C>A, NP_444272.1:p.Pro235His, XP_011511898.1:p.Pro235His, NP_001284488.1:p.Pro235His

Select item 145007093519.

rs1450070935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:8270261 (GRCh38)
4:8271988 (GRCh37)
Canonical SPDI:: NC_000004.12:8270260:C:T
Gene:: HTRA3 (Varview), LOC105374373 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.8270261C>T, NC_000004.11:g.8271988C>T, NM_053044.5:c.293C>T, NM_053044.4:c.293C>T, NM_053044.3:c.293C>T, XM_011513596.4:c.293C>T, XM_011513596.3:c.293C>T, XM_011513596.2:c.293C>T, XM_011513596.1:c.293C>T, NM_001297559.3:c.293C>T, NM_001297559.2:c.293C>T, NM_001297559.1:c.293C>T, NP_444272.1:p.Ala98Val, XP_011511898.1:p.Ala98Val, NP_001284488.1:p.Ala98Val

Select item 144895008420.

rs1448950084 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:8286608 (GRCh38)
4:8288335 (GRCh37)
Canonical SPDI:: NC_000004.12:8286607:T:A
Gene:: HTRA3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.8286608T>A, NC_000004.11:g.8288335T>A, NM_053044.5:c.533T>A, NM_053044.4:c.533T>A, NM_053044.3:c.533T>A, XM_011513596.4:c.533T>A, XM_011513596.3:c.533T>A, XM_011513596.2:c.533T>A, XM_011513596.1:c.533T>A, NM_001297559.3:c.533T>A, NM_001297559.2:c.533T>A, NM_001297559.1:c.533T>A, NP_444272.1:p.Phe178Tyr, XP_011511898.1:p.Phe178Tyr, NP_001284488.1:p.Phe178Tyr

dbSNP

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