SNP Links for Gene (Select 5691) - SNP

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Select item 14915103551.

rs1491510355 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:38763418 (GRCh38)
17:36919671 (GRCh37)
Canonical SPDI:: NC_000017.11:38763416:TAT:T
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.38763418_38763419del, NC_000017.10:g.36919671_36919672del, NT_187614.1:g.2798737_2798738del

Select item 14914534982.

rs1491453498 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:38763497 (GRCh38)
17:36919750 (GRCh37)
Canonical SPDI:: NC_000017.11:38763496:CT:
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.38763497_38763498del, NC_000017.10:g.36919750_36919751del, NT_187614.1:g.2798816_2798817del

Select item 14914518983.

rs1491451898 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,TA,TTA [Show Flanks]
Chromosome:: 17:38757061 (GRCh38)
17:36913315 (GRCh37)
Canonical SPDI:: NC_000017.11:38757061::C,NC_000017.11:38757061::TA,NC_000017.11:38757061::TTA
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TA=0./0 (ALFA)
TTA=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.38757061_38757062insC, NC_000017.11:g.38757061_38757062insTA, NC_000017.11:g.38757061_38757062insTTA, NC_000017.10:g.36913314_36913315insC, NC_000017.10:g.36913314_36913315insTA, NC_000017.10:g.36913314_36913315insTTA, NT_187614.1:g.2792380_2792381insC, NT_187614.1:g.2792380_2792381insTA, NT_187614.1:g.2792380_2792381insTTA

Select item 14913566134.

rs1491356613 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 17:38751772 (GRCh38)
17:36908025 (GRCh37)
Canonical SPDI:: NC_000017.11:38751771:AG:
Gene:: PSMB3 (Varview), PCGF2 (Varview), LOC100287808 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000017.11:g.38751772_38751773del, NC_000017.10:g.36908025_36908026del, NT_187614.1:g.2787091_2787092del

Select item 14913432845.

rs1491343284 has merged into rs35172699 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:38757047 (GRCh38)
17:36913300 (GRCh37)
Canonical SPDI:: NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:38757034:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.0758/281 (TWINSUK)
-=0.0776/299 (ALSPAC)
HGVS:: NC_000017.11:g.38757047_38757061del, NC_000017.11:g.38757048_38757061del, NC_000017.11:g.38757049_38757061del, NC_000017.11:g.38757051_38757061del, NC_000017.11:g.38757052_38757061del, NC_000017.11:g.38757053_38757061del, NC_000017.11:g.38757054_38757061del, NC_000017.11:g.38757055_38757061del, NC_000017.11:g.38757056_38757061del, NC_000017.11:g.38757057_38757061del, NC_000017.11:g.38757058_38757061del, NC_000017.11:g.38757059_38757061del, NC_000017.11:g.38757060_38757061del, NC_000017.11:g.38757061del, NC_000017.11:g.38757061dup, NC_000017.11:g.38757060_38757061dup, NC_000017.11:g.38757059_38757061dup, NC_000017.11:g.38757058_38757061dup, NC_000017.11:g.38757057_38757061dup, NC_000017.11:g.38757056_38757061dup, NC_000017.10:g.36913300_36913314del, NC_000017.10:g.36913301_36913314del, NC_000017.10:g.36913302_36913314del, NC_000017.10:g.36913304_36913314del, NC_000017.10:g.36913305_36913314del, NC_000017.10:g.36913306_36913314del, NC_000017.10:g.36913307_36913314del, NC_000017.10:g.36913308_36913314del, NC_000017.10:g.36913309_36913314del, NC_000017.10:g.36913310_36913314del, NC_000017.10:g.36913311_36913314del, NC_000017.10:g.36913312_36913314del, NC_000017.10:g.36913313_36913314del, NC_000017.10:g.36913314del, NC_000017.10:g.36913314dup, NC_000017.10:g.36913313_36913314dup, NC_000017.10:g.36913312_36913314dup, NC_000017.10:g.36913311_36913314dup, NC_000017.10:g.36913310_36913314dup, NC_000017.10:g.36913309_36913314dup, NT_187614.1:g.2792366_2792380del, NT_187614.1:g.2792367_2792380del, NT_187614.1:g.2792368_2792380del, NT_187614.1:g.2792370_2792380del, NT_187614.1:g.2792371_2792380del, NT_187614.1:g.2792372_2792380del, NT_187614.1:g.2792373_2792380del, NT_187614.1:g.2792374_2792380del, NT_187614.1:g.2792375_2792380del, NT_187614.1:g.2792376_2792380del, NT_187614.1:g.2792377_2792380del, NT_187614.1:g.2792378_2792380del, NT_187614.1:g.2792379_2792380del, NT_187614.1:g.2792380del, NT_187614.1:g.2792380dup, NT_187614.1:g.2792379_2792380dup, NT_187614.1:g.2792378_2792380dup, NT_187614.1:g.2792377_2792380dup, NT_187614.1:g.2792376_2792380dup, NT_187614.1:g.2792375_2792380dup

Select item 14911514166.

rs1491151416 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:38755003 (GRCh38)
17:36911256 (GRCh37)
Canonical SPDI:: NC_000017.11:38755002:CT:
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.000563/77 (GnomAD)
-=0.001031/273 (TOPMED)
HGVS:: NC_000017.11:g.38755003_38755004del, NC_000017.10:g.36911256_36911257del, NT_187614.1:g.2790322_2790323del

Select item 14911303917.

rs1491130391 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GT
Chromosome:: no mapping
Canonical SPDI:

Select item 14911180148.

rs1491118014 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:38757061 (GRCh38)
17:36913314 (GRCh37)
Canonical SPDI:: NC_000017.11:38757060:TA:
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000048/6 (GnomAD)
-=0.000432/12 (TOMMO)
HGVS:: NC_000017.11:g.38757061_38757062del, NC_000017.10:g.36913314_36913315del, NT_187614.1:g.2792380_2792381del

Select item 14910968719.

rs1491096871 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AT,CT,CTT [Show Flanks]
Chromosome:: 17:38763497 (GRCh38)
17:36919751 (GRCh37)
Canonical SPDI:: NC_000017.11:38763497::A,NC_000017.11:38763497::AT,NC_000017.11:38763497::CT,NC_000017.11:38763497::CTT
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0./0 (ALFA)
HGVS:: NC_000017.11:g.38763497_38763498insA, NC_000017.11:g.38763497_38763498insAT, NC_000017.11:g.38763497_38763498insCT, NC_000017.11:g.38763497_38763498insCTT, NC_000017.10:g.36919750_36919751insA, NC_000017.10:g.36919750_36919751insAT, NC_000017.10:g.36919750_36919751insCT, NC_000017.10:g.36919750_36919751insCTT, NT_187614.1:g.2798816_2798817insA, NT_187614.1:g.2798816_2798817insAT, NT_187614.1:g.2798816_2798817insCT, NT_187614.1:g.2798816_2798817insCTT

Select item 149102252410.

rs1491022524 has merged into rs969627335 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 17:38756895 (GRCh38)
17:36913148 (GRCh37)
Canonical SPDI:: NC_000017.11:38756884:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:38756884:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:38756884:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:38756884:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:38756884:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.01327/85 (1000Genomes)
T=0.04101/687 (TOMMO)
HGVS:: NC_000017.11:g.38756895_38756897del, NC_000017.11:g.38756896_38756897del, NC_000017.11:g.38756897del, NC_000017.11:g.38756897dup, NC_000017.11:g.38756896_38756897dup, NC_000017.10:g.36913148_36913150del, NC_000017.10:g.36913149_36913150del, NC_000017.10:g.36913150del, NC_000017.10:g.36913150dup, NC_000017.10:g.36913149_36913150dup, NT_187614.1:g.2792214_2792216del, NT_187614.1:g.2792215_2792216del, NT_187614.1:g.2792216del, NT_187614.1:g.2792216dup, NT_187614.1:g.2792215_2792216dup

Select item 149065220811.

rs1490652208 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:38759240 (GRCh38)
17:36915493 (GRCh37)
Canonical SPDI:: NC_000017.11:38759239:C:T
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.38759240C>T, NC_000017.10:g.36915493C>T, NT_187614.1:g.2794559C>T

Select item 149054151412.

rs1490541514 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:38758218 (GRCh38)
17:36914471 (GRCh37)
Canonical SPDI:: NC_000017.11:38758217:A:T
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.38758218A>T, NC_000017.10:g.36914471A>T, NT_187614.1:g.2793537A>T

Select item 149034700913.

rs1490347009 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38756596 (GRCh38)
17:36912849 (GRCh37)
Canonical SPDI:: NC_000017.11:38756595:A:G
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.38756596A>G, NC_000017.10:g.36912849A>G, NT_187614.1:g.2791915A>G

Select item 149029256214.

rs1490292562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:38764146 (GRCh38)
17:36920399 (GRCh37)
Canonical SPDI:: NC_000017.11:38764145:A:C
Gene:: PSMB3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.38764146A>C, NC_000017.10:g.36920399A>C, NT_187614.1:g.2799465A>C, NM_002795.4:c.597A>C, NM_002795.3:c.597A>C, NM_002795.2:c.597A>C, NR_104195.2:n.606A>C, NR_104195.1:n.634A>C, NR_104194.2:n.505A>C, NR_104194.1:n.533A>C

Select item 149013681215.

rs1490136812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:38764239 (GRCh38)
17:36920492 (GRCh37)
Canonical SPDI:: NC_000017.11:38764238:C:G
Gene:: PSMB3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_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_000017.11:g.38764239C>G, NC_000017.10:g.36920492C>G, NT_187614.1:g.2799558C>G

Select item 149011460516.

rs1490114605 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:38751161 (GRCh38)
17:36907414 (GRCh37)
Canonical SPDI:: NC_000017.11:38751160:CCC:CC
Gene:: PSMB3 (Varview), PCGF2 (Varview), LOC100287808 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.38751163del, NC_000017.10:g.36907416del, NT_187614.1:g.2786482del, NR_149004.1:n.2130del

Select item 148977250017.

rs1489772500 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:38762977 (GRCh38)
17:36919230 (GRCh37)
Canonical SPDI:: NC_000017.11:38762976:G:
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000094/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.38762977del, NC_000017.10:g.36919230del, NT_187614.1:g.2798296del

Select item 148942099618.

rs1489420996 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:38763000 (GRCh38)
17:36919254 (GRCh37)
Canonical SPDI:: NC_000017.11:38763000::T
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000017.11:g.38763000_38763001insT, NC_000017.10:g.36919253_36919254insT, NT_187614.1:g.2798319_2798320insT

Select item 148937059319.

rs1489370593 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGTCT [Show Flanks]
Chromosome:: 17:38760331 (GRCh38)
17:36916585 (GRCh37)
Canonical SPDI:: NC_000017.11:38760331:TGGGTCTGGGTCT:TGGGTCTGGGTCTGGGTCT
Gene:: PSMB3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGGGTCTGGGTCTGGGTCT=0.000071/1 (ALFA)
TGGGTC=0.000019/5 (TOPMED)
TGGGTC=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.38760333GGGTCT[3], NC_000017.10:g.36916586GGGTCT[3], NT_187614.1:g.2795652GGGTCT[3]

Select item 148919320520.

rs1489193205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:38753163 (GRCh38)
17:36909416 (GRCh37)
Canonical SPDI:: NC_000017.11:38753162:A:G
Gene:: PSMB3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.38753163A>G, NC_000017.10:g.36909416A>G, NT_187614.1:g.2788482A>G, NM_002795.4:c.17A>G, NM_002795.3:c.17A>G, NM_002795.2:c.17A>G, NR_104195.2:n.103A>G, NR_104195.1:n.131A>G, NR_104194.2:n.103A>G, NR_104194.1:n.131A>G, NP_002786.2:p.Tyr6Cys

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