SNP Links for Gene (Select 94086) - SNP

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Select item 14909544001.

rs1490954400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42121889 (GRCh38)
17:40273907 (GRCh37)
Canonical SPDI:: NC_000017.11:42121888:C:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42121889C>T, NC_000017.10:g.40273907C>T, NW_003571052.1:g.408531C>T

Select item 14901383422.

rs1490138342 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42121433 (GRCh38)
17:40273451 (GRCh37)
Canonical SPDI:: NC_000017.11:42121432:C:G
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000053/14 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000017.11:g.42121433C>G, NC_000017.10:g.40273451C>G, NW_003571052.1:g.408075C>G

Select item 14899794453.

rs1489979445 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 17:42121108 (GRCh38)
17:40273126 (GRCh37)
Canonical SPDI:: NC_000017.11:42121106:TCCT:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42121108_42121110del, NC_000017.10:g.40273126_40273128del, NW_003571052.1:g.407750_407752del, NM_021078.3:c.196_198del, NM_021078.2:c.196_198del, NM_001376227.1:c.196_198del, NP_066564.2:p.Gly66del, NP_001363156.1:p.Gly66del

Select item 14888220734.

rs1488822073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:42123293 (GRCh38)
17:40275311 (GRCh37)
Canonical SPDI:: NC_000017.11:42123292:G:A,NC_000017.11:42123292:G:C
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_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_000017.11:g.42123293G>A, NC_000017.11:g.42123293G>C, NC_000017.10:g.40275311G>A, NC_000017.10:g.40275311G>C, NW_003571052.1:g.409935G>A, NW_003571052.1:g.409935G>C, NM_033194.3:c.443G>A, NM_033194.3:c.443G>C, NM_033194.2:c.443G>A, NM_033194.2:c.443G>C, NP_149971.1:p.Gly148Glu, NP_149971.1:p.Gly148Ala

Select item 14872662405.

rs1487266240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42121935 (GRCh38)
17:40273953 (GRCh37)
Canonical SPDI:: NC_000017.11:42121934:C:A
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42121935C>A, NC_000017.10:g.40273953C>A, NW_003571052.1:g.408577C>A

Select item 14869180806.

rs1486918080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:42122375 (GRCh38)
17:40274393 (GRCh37)
Canonical SPDI:: NC_000017.11:42122374:A:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42122375A>T, NC_000017.10:g.40274393A>T, NW_003571052.1:g.409017A>T

Select item 14855767277.

rs1485576727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42123652 (GRCh38)
17:40275670 (GRCh37)
Canonical SPDI:: NC_000017.11:42123651:T:C
Gene:: HSPB9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.42123652T>C, NC_000017.10:g.40275670T>C, NW_003571052.1:g.410294T>C

Select item 14855117608.

rs1485511760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42123771 (GRCh38)
17:40275789 (GRCh37)
Canonical SPDI:: NC_000017.11:42123770:G:A
Gene:: HSPB9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42123771G>A, NC_000017.10:g.40275789G>A, NW_003571052.1:g.410413G>A

Select item 14853009169.

rs1485300916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42121245 (GRCh38)
17:40273263 (GRCh37)
Canonical SPDI:: NC_000017.11:42121244:C:G
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant,missense_variant,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_000017.11:g.42121245C>G, NC_000017.10:g.40273263C>G, NW_003571052.1:g.407887C>G, NM_021078.3:c.60G>C, NM_021078.2:c.60G>C, NM_001376227.1:c.60G>C, NP_066564.2:p.Gln20His, NP_001363156.1:p.Gln20His

Select item 148482317510.

rs1484823175 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:42123841 (GRCh38)
17:40275859 (GRCh37)
Canonical SPDI:: NC_000017.11:42123840:A:G,NC_000017.11:42123840:A:T
Gene:: HSPB9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00006/1 (ALFA)
HGVS:: NC_000017.11:g.42123841A>G, NC_000017.11:g.42123841A>T, NC_000017.10:g.40275859A>G, NC_000017.10:g.40275859A>T, NW_003571052.1:g.410483A>G, NW_003571052.1:g.410483A>T

Select item 148353973311.

rs1483539733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42123067 (GRCh38)
17:40275085 (GRCh37)
Canonical SPDI:: NC_000017.11:42123066:G:C
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.42123067G>C, NC_000017.10:g.40275085G>C, NW_003571052.1:g.409709G>C, NM_033194.3:c.217G>C, NM_033194.2:c.217G>C, NP_149971.1:p.Asp73His

Select item 148342903212.

rs1483429032 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42123827 (GRCh38)
17:40275845 (GRCh37)
Canonical SPDI:: NC_000017.11:42123826:A:G
Gene:: HSPB9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000422/5 (ALFA)
G=0.000207/28 (GnomAD)
G=0.000625/4 (1000Genomes)
HGVS:: NC_000017.11:g.42123827A>G, NC_000017.10:g.40275845A>G, NW_003571052.1:g.410469A>G

Select item 148197103313.

rs1481971033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42122214 (GRCh38)
17:40274232 (GRCh37)
Canonical SPDI:: NC_000017.11:42122213:G:A
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.42122214G>A, NC_000017.10:g.40274232G>A, NW_003571052.1:g.408856G>A

Select item 148159334214.

rs1481593342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42122132 (GRCh38)
17:40274150 (GRCh37)
Canonical SPDI:: NC_000017.11:42122131:G:C
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42122132G>C, NC_000017.10:g.40274150G>C, NW_003571052.1:g.408774G>C

Select item 148153750315.

rs1481537503 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42121311 (GRCh38)
17:40273329 (GRCh37)
Canonical SPDI:: NC_000017.11:42121310:C:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.42121311C>T, NC_000017.10:g.40273329C>T, NW_003571052.1:g.407953C>T, NM_021078.3:c.-7G>A, NM_021078.2:c.-7G>A, NM_001376227.1:c.-7G>A

Select item 148008632516.

rs1480086325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42121525 (GRCh38)
17:40273543 (GRCh37)
Canonical SPDI:: NC_000017.11:42121524:C:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42121525C>T, NC_000017.10:g.40273543C>T, NW_003571052.1:g.408167C>T

Select item 147880739517.

rs1478807395 has merged into rs869184484 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:42123707 (GRCh38)
17:40275725 (GRCh37)
Canonical SPDI:: NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:42123695:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSPB9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.0039/2 (NorthernSweden)
HGVS:: NC_000017.11:g.42123707_42123725del, NC_000017.11:g.42123708_42123725del, NC_000017.11:g.42123709_42123725del, NC_000017.11:g.42123710_42123725del, NC_000017.11:g.42123711_42123725del, NC_000017.11:g.42123712_42123725del, NC_000017.11:g.42123713_42123725del, NC_000017.11:g.42123714_42123725del, NC_000017.11:g.42123715_42123725del, NC_000017.11:g.42123716_42123725del, NC_000017.11:g.42123717_42123725del, NC_000017.11:g.42123718_42123725del, NC_000017.11:g.42123719_42123725del, NC_000017.11:g.42123720_42123725del, NC_000017.11:g.42123721_42123725del, NC_000017.11:g.42123722_42123725del, NC_000017.11:g.42123723_42123725del, NC_000017.11:g.42123724_42123725del, NC_000017.11:g.42123725del, NC_000017.11:g.42123725dup, NC_000017.11:g.42123724_42123725dup, NC_000017.11:g.42123723_42123725dup, NC_000017.11:g.42123722_42123725dup, NC_000017.11:g.42123721_42123725dup, NC_000017.11:g.42123720_42123725dup, NC_000017.11:g.42123719_42123725dup, NC_000017.11:g.42123718_42123725dup, NC_000017.11:g.42123717_42123725dup, NC_000017.10:g.40275725_40275743del, NC_000017.10:g.40275726_40275743del, NC_000017.10:g.40275727_40275743del, NC_000017.10:g.40275728_40275743del, NC_000017.10:g.40275729_40275743del, NC_000017.10:g.40275730_40275743del, NC_000017.10:g.40275731_40275743del, NC_000017.10:g.40275732_40275743del, NC_000017.10:g.40275733_40275743del, NC_000017.10:g.40275734_40275743del, NC_000017.10:g.40275735_40275743del, NC_000017.10:g.40275736_40275743del, NC_000017.10:g.40275737_40275743del, NC_000017.10:g.40275738_40275743del, NC_000017.10:g.40275739_40275743del, NC_000017.10:g.40275740_40275743del, NC_000017.10:g.40275741_40275743del, NC_000017.10:g.40275742_40275743del, NC_000017.10:g.40275743del, NC_000017.10:g.40275743dup, NC_000017.10:g.40275742_40275743dup, NC_000017.10:g.40275741_40275743dup, NC_000017.10:g.40275740_40275743dup, NC_000017.10:g.40275739_40275743dup, NC_000017.10:g.40275738_40275743dup, NC_000017.10:g.40275737_40275743dup, NC_000017.10:g.40275736_40275743dup, NC_000017.10:g.40275735_40275743dup, NW_003571052.1:g.410349_410367del, NW_003571052.1:g.410350_410367del, NW_003571052.1:g.410351_410367del, NW_003571052.1:g.410352_410367del, NW_003571052.1:g.410353_410367del, NW_003571052.1:g.410354_410367del, NW_003571052.1:g.410355_410367del, NW_003571052.1:g.410356_410367del, NW_003571052.1:g.410357_410367del, NW_003571052.1:g.410358_410367del, NW_003571052.1:g.410359_410367del, NW_003571052.1:g.410360_410367del, NW_003571052.1:g.410361_410367del, NW_003571052.1:g.410362_410367del, NW_003571052.1:g.410363_410367del, NW_003571052.1:g.410364_410367del, NW_003571052.1:g.410365_410367del, NW_003571052.1:g.410366_410367del, NW_003571052.1:g.410367del, NW_003571052.1:g.410367dup, NW_003571052.1:g.410366_410367dup, NW_003571052.1:g.410365_410367dup, NW_003571052.1:g.410364_410367dup, NW_003571052.1:g.410363_410367dup, NW_003571052.1:g.410362_410367dup, NW_003571052.1:g.410361_410367dup, NW_003571052.1:g.410360_410367dup, NW_003571052.1:g.410359_410367dup

Select item 147759855818.

rs1477598558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42122473 (GRCh38)
17:40274491 (GRCh37)
Canonical SPDI:: NC_000017.11:42122472:C:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42122473C>T, NC_000017.10:g.40274491C>T, NW_003571052.1:g.409115C>T

Select item 147565690719.

rs1475656907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42121646 (GRCh38)
17:40273664 (GRCh37)
Canonical SPDI:: NC_000017.11:42121645:C:T
Gene:: KAT2A (Varview), HSPB9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000017.11:g.42121646C>T, NC_000017.10:g.40273664C>T, NW_003571052.1:g.408288C>T

Select item 147517139520.

rs1475171395 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAAAAAAA>- [Show Flanks]
Chromosome:: 17:42123695 (GRCh38)
17:40275713 (GRCh37)
Canonical SPDI:: NC_000017.11:42123694:CAAAAAAAA:
Gene:: HSPB9 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00363/43 (ALFA)
-=0.00058/16 (GnomAD)
-=0.00105/25 (TOMMO)
HGVS:: NC_000017.11:g.42123695_42123703del, NC_000017.10:g.40275713_40275721del, NW_003571052.1:g.410337_410345del

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