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Select item 14914374661.

rs1491437466 has merged into rs10710870 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:33272403 (GRCh38)
9:33272401 (GRCh37)
Canonical SPDI:: NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:33272393:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.1111/428 (ALSPAC)
A=0.256/1282 (1000Genomes)
HGVS:: NC_000009.12:g.33272403_33272410del, NC_000009.12:g.33272404_33272410del, NC_000009.12:g.33272405_33272410del, NC_000009.12:g.33272406_33272410del, NC_000009.12:g.33272407_33272410del, NC_000009.12:g.33272408_33272410del, NC_000009.12:g.33272409_33272410del, NC_000009.12:g.33272410del, NC_000009.12:g.33272410dup, NC_000009.12:g.33272409_33272410dup, NC_000009.12:g.33272408_33272410dup, NC_000009.12:g.33272407_33272410dup, NC_000009.12:g.33272406_33272410dup, NC_000009.12:g.33272405_33272410dup, NC_000009.12:g.33272400_33272410dup, NC_000009.11:g.33272401_33272408del, NC_000009.11:g.33272402_33272408del, NC_000009.11:g.33272403_33272408del, NC_000009.11:g.33272404_33272408del, NC_000009.11:g.33272405_33272408del, NC_000009.11:g.33272406_33272408del, NC_000009.11:g.33272407_33272408del, NC_000009.11:g.33272408del, NC_000009.11:g.33272408dup, NC_000009.11:g.33272407_33272408dup, NC_000009.11:g.33272406_33272408dup, NC_000009.11:g.33272405_33272408dup, NC_000009.11:g.33272404_33272408dup, NC_000009.11:g.33272403_33272408dup, NC_000009.11:g.33272398_33272408dup

Select item 14912818012.

rs1491281801 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:33272393 (GRCh38)
9:33272391 (GRCh37)
Canonical SPDI:: NC_000009.12:33272392:CA:
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.33272393_33272394del, NC_000009.11:g.33272391_33272392del

Select item 14909543763.

rs1490954376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33281384 (GRCh38)
9:33281382 (GRCh37)
Canonical SPDI:: NC_000009.12:33281383:A:G
Gene:: CHMP5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.33281384A>G, NC_000009.11:g.33281382A>G, NM_016410.6:c.*525A>G, NM_016410.5:c.*525A>G, NM_001195536.2:c.*556A>G, NM_001195536.1:c.*556A>G, NM_015961.1:c.*525A>G

Select item 14908543774.

rs1490854377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:33264633 (GRCh38)
9:33264631 (GRCh37)
Canonical SPDI:: NC_000009.12:33264632:C:G,NC_000009.12:33264632:C:T
Gene:: BAG1 (Varview), CHMP5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.33264633C>G, NC_000009.12:g.33264633C>T, NC_000009.11:g.33264631C>G, NC_000009.11:g.33264631C>T, NG_029018.1:g.5129G>C, NG_029018.1:g.5129G>A, NM_004323.6:c.42G>C, NM_004323.6:c.42G>A, NM_004323.5:c.42G>C, NM_004323.5:c.42G>A, NM_001349299.2:c.-373G>C, NM_001349299.2:c.-373G>A, NM_001349299.1:c.-373G>C, NM_001349299.1:c.-373G>A, NM_001349286.2:c.-172G>C, NM_001349286.2:c.-172G>A, NM_001349286.1:c.-172G>C, NM_001349286.1:c.-172G>A, NM_001172415.2:c.-304G>C, NM_001172415.2:c.-304G>A, NM_001172415.1:c.-304G>C, NM_001172415.1:c.-304G>A

Select item 14906952115.

rs1490695211 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:33270616 (GRCh38)
9:33270615 (GRCh37)
Canonical SPDI:: NC_000009.12:33270616:AAAAA:AAAAAA
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant,splice_acceptor_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33270621dup, NC_000009.11:g.33270619dup

Select item 14901901896.

rs1490190189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33278578 (GRCh38)
9:33278576 (GRCh37)
Canonical SPDI:: NC_000009.12:33278577:C:T
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000009.12:g.33278578C>T, NC_000009.11:g.33278576C>T

Select item 14901587057.

rs1490158705 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33279774 (GRCh38)
9:33279772 (GRCh37)
Canonical SPDI:: NC_000009.12:33279773:A:G
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_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_000009.12:g.33279774A>G, NC_000009.11:g.33279772A>G

Select item 14901530908.

rs1490153090 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:33272262 (GRCh38)
9:33272260 (GRCh37)
Canonical SPDI:: NC_000009.12:33272261:A:C,NC_000009.12:33272261:A:G
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00067/11 (TOMMO)
G=0.00068/2 (KOREAN)
G=0.00218/4 (Korea1K)
HGVS:: NC_000009.12:g.33272262A>C, NC_000009.12:g.33272262A>G, NC_000009.11:g.33272260A>C, NC_000009.11:g.33272260A>G

Select item 14901474349.

rs1490147434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:33264334 (GRCh38)
9:33264332 (GRCh37)
Canonical SPDI:: NC_000009.12:33264333:T:G
Gene:: BAG1 (Varview), CHMP5 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33264334T>G, NC_000009.11:g.33264332T>G, NG_029018.1:g.5428A>C, NM_004323.6:c.341A>C, NM_004323.5:c.341A>C, NM_001349299.2:c.-74A>C, NM_001349299.1:c.-74A>C, NM_001349286.2:c.128A>C, NM_001349286.1:c.128A>C, NM_001172415.2:c.-5A>C, NM_001172415.1:c.-5A>C, NP_004314.6:p.Glu114Ala, NP_001336215.1:p.Glu43Ala

Select item 149003569210.

rs1490035692 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33264333 (GRCh38)
9:33264331 (GRCh37)
Canonical SPDI:: NC_000009.12:33264332:T:C
Gene:: BAG1 (Varview), CHMP5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.33264333T>C, NC_000009.11:g.33264331T>C, NG_029018.1:g.5429A>G, NM_004323.6:c.342A>G, NM_004323.5:c.342A>G, NM_001349299.2:c.-73A>G, NM_001349299.1:c.-73A>G, NM_001349286.2:c.129A>G, NM_001349286.1:c.129A>G, NM_001172415.2:c.-4A>G, NM_001172415.1:c.-4A>G

Select item 148999094611.

rs1489990946 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 9:33273152 (GRCh38)
9:33273150 (GRCh37)
Canonical SPDI:: NC_000009.12:33273151:A:
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000164/23 (GnomAD)
-=0.0002/53 (TOPMED)
HGVS:: NC_000009.12:g.33273152del, NC_000009.11:g.33273150del

Select item 148990305012.

rs1489903050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33263048 (GRCh38)
9:33263046 (GRCh37)
Canonical SPDI:: NC_000009.12:33263047:C:T
Gene:: BAG1 (Varview), CHMP5 (Varview)
Functional Consequence:: intron_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_000009.12:g.33263048C>T, NC_000009.11:g.33263046C>T, NG_029018.1:g.6714G>A

Select item 148988474913.

rs1489884749 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:33278261 (GRCh38)
9:33278259 (GRCh37)
Canonical SPDI:: NC_000009.12:33278260:T:A
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.33278261T>A, NC_000009.11:g.33278259T>A

Select item 148986960614.

rs1489869606 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 9:33279419 (GRCh38)
9:33279417 (GRCh37)
Canonical SPDI:: NC_000009.12:33279418:G:C,NC_000009.12:33279418:G:T
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33279419G>C, NC_000009.12:g.33279419G>T, NC_000009.11:g.33279417G>C, NC_000009.11:g.33279417G>T

Select item 148984346715.

rs1489843467 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 9:33270068 (GRCh38)
9:33270066 (GRCh37)
Canonical SPDI:: NC_000009.12:33270067:T:
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.33270068del, NC_000009.11:g.33270066del

Select item 148960272916.

rs1489602729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:33263282 (GRCh38)
9:33263280 (GRCh37)
Canonical SPDI:: NC_000009.12:33263281:T:G
Gene:: BAG1 (Varview), CHMP5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33263282T>G, NC_000009.11:g.33263280T>G, NG_029018.1:g.6480A>C

Select item 148957323017.

rs1489573230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33278085 (GRCh38)
9:33278083 (GRCh37)
Canonical SPDI:: NC_000009.12:33278084:T:C
Gene:: CHMP5 (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_000009.12:g.33278085T>C, NC_000009.11:g.33278083T>C

Select item 148956712818.

rs1489567128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33269656 (GRCh38)
9:33269654 (GRCh37)
Canonical SPDI:: NC_000009.12:33269655:A:G
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.33269656A>G, NC_000009.11:g.33269654A>G, NG_029018.1:g.106T>C

Select item 148955186019.

rs1489551860 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33265259 (GRCh38)
9:33265257 (GRCh37)
Canonical SPDI:: NC_000009.12:33265258:T:C
Gene:: BAG1 (Varview), CHMP5 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33265259T>C, NC_000009.11:g.33265257T>C, NG_029018.1:g.4503A>G

Select item 148946560220.

rs1489465602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33270521 (GRCh38)
9:33270519 (GRCh37)
Canonical SPDI:: NC_000009.12:33270520:G:A
Gene:: CHMP5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000009.12:g.33270521G>A, NC_000009.11:g.33270519G>A

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