SNP Links for Gene (Select 5692) - SNP

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Select item 14912312891.

rs1491231289 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 1:151401898 (GRCh38)
1:151374375 (GRCh37)
Canonical SPDI:: NC_000001.11:151401898:G:GCG
Gene:: PSMB4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151401899_151401900insCG, NC_000001.10:g.151374375_151374376insCG, NG_046601.1:g.62567_62568insGC, NM_002796.3:c.*70_*71insCG, NM_002796.2:c.*70_*71insCG

Select item 14910811362.

rs1491081136 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:151399248 (GRCh38)
1:151371724 (GRCh37)
Canonical SPDI:: NC_000001.11:151399246:ATA:A
Gene:: PSMB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00034/4 (ALFA)
-=0.00175/143 (GnomAD)
HGVS:: NC_000001.11:g.151399248_151399249del, NC_000001.10:g.151371724_151371725del

Select item 14910005803.

rs1491000580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:151401887 (GRCh38)
1:151374363 (GRCh37)
Canonical SPDI:: NC_000001.11:151401886:A:C,NC_000001.11:151401886:A:G
Gene:: PSMB4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.151401887A>C, NC_000001.11:g.151401887A>G, NC_000001.10:g.151374363A>C, NC_000001.10:g.151374363A>G, NG_046601.1:g.62579T>G, NG_046601.1:g.62579T>C, NM_002796.3:c.*58A>C, NM_002796.3:c.*58A>G, NM_002796.2:c.*58A>C, NM_002796.2:c.*58A>G

Select item 14905854034.

rs1490585403 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151401367 (GRCh38)
1:151373843 (GRCh37)
Canonical SPDI:: NC_000001.11:151401366:G:C
Gene:: PSMB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151401367G>C, NC_000001.10:g.151373843G>C, NG_046601.1:g.63099C>G

Select item 14905089455.

rs1490508945 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:151400692 (GRCh38)
1:151373169 (GRCh37)
Canonical SPDI:: NC_000001.11:151400692:CCCC:CCCCC
Gene:: PSMB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151400696dup, NC_000001.10:g.151373172dup

Select item 14891634396.

rs1489163439 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:151400830 (GRCh38)
1:151373306 (GRCh37)
Canonical SPDI:: NC_000001.11:151400829:T:C,NC_000001.11:151400829:T:G
Gene:: PSMB4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.151400830T>C, NC_000001.11:g.151400830T>G, NC_000001.10:g.151373306T>C, NC_000001.10:g.151373306T>G, NG_046601.1:g.63636A>G, NG_046601.1:g.63636A>C, NM_002796.3:c.561T>C, NM_002796.3:c.561T>G, NM_002796.2:c.561T>C, NM_002796.2:c.561T>G

Select item 14889558047.

rs1488955804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151397969 (GRCh38)
1:151370445 (GRCh37)
Canonical SPDI:: NC_000001.11:151397968:C:T
Gene:: PSMB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.151397969C>T, NC_000001.10:g.151370445C>T

Select item 14882126508.

rs1488212650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151401297 (GRCh38)
1:151373773 (GRCh37)
Canonical SPDI:: NC_000001.11:151401296:A:G
Gene:: PSMB4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151401297A>G, NC_000001.10:g.151373773A>G, NG_046601.1:g.63169T>C, NM_002796.3:c.635A>G, NM_002796.2:c.635A>G, NP_002787.2:p.Asp212Gly

Select item 14876908539.

rs1487690853 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 1:151399929 (GRCh38)
1:151372405 (GRCh37)
Canonical SPDI:: NC_000001.11:151399927:AAA:A
Gene:: PSMB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151399929_151399930del, NC_000001.10:g.151372405_151372406del

Select item 148720681810.

rs1487206818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151399828 (GRCh38)
1:151372304 (GRCh37)
Canonical SPDI:: NC_000001.11:151399827:G:A
Gene:: PSMB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151399828G>A, NC_000001.10:g.151372304G>A

Select item 148670846011.

rs1486708460 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:151399565 (GRCh38)
1:151372041 (GRCh37)
Canonical SPDI:: NC_000001.11:151399564:T:C
Gene:: PSMB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000001.11:g.151399565T>C, NC_000001.10:g.151372041T>C, NM_002796.2:c.-23T>C

Select item 148571845212.

rs1485718452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:151399218 (GRCh38)
1:151371694 (GRCh37)
Canonical SPDI:: NC_000001.11:151399217:G:A
Gene:: PSMB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.151399218G>A, NC_000001.10:g.151371694G>A

Select item 148524416013.

rs1485244160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:151399077 (GRCh38)
1:151371553 (GRCh37)
Canonical SPDI:: NC_000001.11:151399076:C:A
Gene:: PSMB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151399077C>A, NC_000001.10:g.151371553C>A

Select item 148467922114.

rs1484679221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:151397828 (GRCh38)
1:151370304 (GRCh37)
Canonical SPDI:: NC_000001.11:151397827:G:C
Gene:: PSMB4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151397828G>C, NC_000001.10:g.151370304G>C

Select item 148347497615.

rs1483474976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:151401115 (GRCh38)
1:151373591 (GRCh37)
Canonical SPDI:: NC_000001.11:151401114:A:G
Gene:: PSMB4 (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_000001.11:g.151401115A>G, NC_000001.10:g.151373591A>G, NG_046601.1:g.63351T>C

Select item 148196163316.

rs1481961633 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:151398737 (GRCh38)
1:151371213 (GRCh37)
Canonical SPDI:: NC_000001.11:151398736:T:A
Gene:: PSMB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.151398737T>A, NC_000001.10:g.151371213T>A

Select item 148081619217.

rs1480816192 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:151400004 (GRCh38)
1:151372481 (GRCh37)
Canonical SPDI:: NC_000001.11:151400004:A:AA
Gene:: PSMB4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.151400005dup, NC_000001.10:g.151372481dup, NM_002796.3:c.165dup, NM_002796.2:c.165dup, NP_002787.2:p.Val56fs

Select item 148046140218.

rs1480461402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:151398802 (GRCh38)
1:151371278 (GRCh37)
Canonical SPDI:: NC_000001.11:151398801:C:A
Gene:: PSMB4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151398802C>A, NC_000001.10:g.151371278C>A

Select item 148046027119.

rs1480460271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:151400370 (GRCh38)
1:151372846 (GRCh37)
Canonical SPDI:: NC_000001.11:151400369:T:A,NC_000001.11:151400369:T:C
Gene:: PSMB4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.151400370T>A, NC_000001.11:g.151400370T>C, NC_000001.10:g.151372846T>A, NC_000001.10:g.151372846T>C

Select item 148019864420.

rs1480198644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:151402324 (GRCh38)
1:151374800 (GRCh37)
Canonical SPDI:: NC_000001.11:151402323:C:T
Gene:: PSMB4 (Varview), POGZ (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.151402324C>T, NC_000001.10:g.151374800C>T, NG_046601.1:g.62142G>A

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