SNP Links for Gene (Select 84262) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 1483

<< First< Prev

Page of 75

Next >Last >>

Select item 14911234541.

rs1491123454 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:1569383 (GRCh38)
7:1609019 (GRCh37)
Canonical SPDI:: NC_000007.14:1569382:AG:
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000049/1 (ExAC)
HGVS:: NC_000007.14:g.1569383_1569384del, NC_000007.13:g.1609019_1609020del, NM_032302.4:c.-45_-44del, NM_032302.3:c.-45_-44del

Select item 14903905482.

rs1490390548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:1571633 (GRCh38)
7:1611269 (GRCh37)
Canonical SPDI:: NC_000007.14:1571632:T:G
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
G=0.003275/6 (Korea1K)
HGVS:: NC_000007.14:g.1571633T>G, NC_000007.13:g.1611269T>G

Select item 14901020943.

rs1490102094 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:1570486 (GRCh38)
7:1610122 (GRCh37)
Canonical SPDI:: NC_000007.14:1570485:A:T
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.1570486A>T, NC_000007.13:g.1610122A>T, NR_021487.2:n.414A>T

Select item 14897214184.

rs1489721418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:1570464 (GRCh38)
7:1610100 (GRCh37)
Canonical SPDI:: NC_000007.14:1570463:C:A,NC_000007.14:1570463:C:T
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.1570464C>A, NC_000007.14:g.1570464C>T, NC_000007.13:g.1610100C>A, NC_000007.13:g.1610100C>T, NR_021487.2:n.392C>A, NR_021487.2:n.392C>T

Select item 14893593875.

rs1489359387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:1571617 (GRCh38)
7:1611253 (GRCh37)
Canonical SPDI:: NC_000007.14:1571616:G:T
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000061/1 (ALFA)
T=0.000023/3 (GnomAD)
HGVS:: NC_000007.14:g.1571617G>T, NC_000007.13:g.1611253G>T

Select item 14891184036.

rs1489118403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:1567058 (GRCh38)
7:1606694 (GRCh37)
Canonical SPDI:: NC_000007.14:1567057:C:G
Gene:: PSMG3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000038/10 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000007.14:g.1567058C>G, NC_000007.13:g.1606694C>G

Select item 14887167647.

rs1488716764 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCGCTCACC [Show Flanks]
Chromosome:: 7:1569996 (GRCh38)
7:1609633 (GRCh37)
Canonical SPDI:: NC_000007.14:1569996:ACCCGCGCTCACC:ACCCGCGCTCACCCGCGCTCACC
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: splice_donor_variant,upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACCCGCGCTCACCCGCGCTCACC=0./0 (ALFA)
ACCCGCGCTC=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1570000_1570009dup, NC_000007.13:g.1609636_1609645dup, NM_032302.4:c.-667_-658dup

Select item 14886941798.

rs1488694179 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:1570417 (GRCh38)
7:1610053 (GRCh37)
Canonical SPDI:: NC_000007.14:1570416:A:G
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1570417A>G, NC_000007.13:g.1610053A>G, NR_021487.2:n.345A>G

Select item 14880204949.

rs1488020494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:1567715 (GRCh38)
7:1607351 (GRCh37)
Canonical SPDI:: NC_000007.14:1567714:C:A,NC_000007.14:1567714:C:G
Gene:: PSMG3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.1567715C>A, NC_000007.14:g.1567715C>G, NC_000007.13:g.1607351C>A, NC_000007.13:g.1607351C>G, NM_032302.4:c.352G>T, NM_032302.4:c.352G>C, NM_032302.3:c.352G>T, NM_032302.3:c.352G>C, NM_001134340.2:c.352G>T, NM_001134340.2:c.352G>C, NM_001134340.1:c.352G>T, NM_001134340.1:c.352G>C, NP_115678.1:p.Val118Leu, NP_115678.1:p.Val118Leu, NP_001127812.1:p.Val118Leu, NP_001127812.1:p.Val118Leu

Select item 148793950710.

rs1487939507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:1570051 (GRCh38)
7:1609687 (GRCh37)
Canonical SPDI:: NC_000007.14:1570050:C:G
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.1570051C>G, NC_000007.13:g.1609687C>G

Select item 148751424111.

rs1487514241 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1571117 (GRCh38)
7:1610753 (GRCh37)
Canonical SPDI:: NC_000007.14:1571116:G:A
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000007.14:g.1571117G>A, NC_000007.13:g.1610753G>A

Select item 148702084412.

rs1487020844 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:1571793 (GRCh38)
7:1611429 (GRCh37)
Canonical SPDI:: NC_000007.14:1571792:T:C,NC_000007.14:1571792:T:G
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.001638/3 (Korea1K)
HGVS:: NC_000007.14:g.1571793T>C, NC_000007.14:g.1571793T>G, NC_000007.13:g.1611429T>C, NC_000007.13:g.1611429T>G

Select item 148645296913.

rs1486452969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:1568970 (GRCh38)
7:1608606 (GRCh37)
Canonical SPDI:: NC_000007.14:1568969:G:A,NC_000007.14:1568969:G:C
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000071/10 (GnomAD)
HGVS:: NC_000007.14:g.1568970G>A, NC_000007.14:g.1568970G>C, NC_000007.13:g.1608606G>A, NC_000007.13:g.1608606G>C

Select item 148580375914.

rs1485803759 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:1567297 (GRCh38)
7:1606933 (GRCh37)
Canonical SPDI:: NC_000007.14:1567296:AA:A
Gene:: PSMG3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.1567298del, NC_000007.13:g.1606934del, NG_074263.1:g.86del

Select item 148546932415.

rs1485469324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:1569510 (GRCh38)
7:1609146 (GRCh37)
Canonical SPDI:: NC_000007.14:1569509:G:C
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_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_000007.14:g.1569510G>C, NC_000007.13:g.1609146G>C, NM_032302.4:c.-171C>G, NM_032302.3:c.-171C>G

Select item 148514356216.

rs1485143562 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:1569625 (GRCh38)
7:1609262 (GRCh37)
Canonical SPDI:: NC_000007.14:1569625::T
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.1569625_1569626insT, NC_000007.13:g.1609261_1609262insT, NM_032302.4:c.-287_-286insA, NM_032302.3:c.-287_-286insA

Select item 148477011517.

rs1484770115 has merged into rs56016686 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTATTATTATTA>-,TTA,TTATTA,TTATTATTA,TTATTATTATTATTA,TTATTATTATTATTATTA,TTATTATTATTATTATTATTA,TTATTATTATTATTATTATTATTA,TTATTATTATTATTATTATTATTATTA [Show Flanks]
Chromosome:: 7:1568472 (GRCh38)
7:1608108 (GRCh37)
Canonical SPDI:: NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTATTATTATTATTATTATTA,NC_000007.14:1568453:TTATTATTATTATTATTATTATTATTATTA:TTATTATTATTATTATTATTATTATTATTATTATTATTATTATTA
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATTATTATTATTATTATTATTA=0./0 (ALFA)
TTATTATTATTATTA=0.000004/1 (TOPMED)
-=0.000907/4 (1000Genomes)
TTA=0.15/6 (GENOME_DK)
HGVS:: NC_000007.14:g.1568454TTA[6], NC_000007.14:g.1568454TTA[7], NC_000007.14:g.1568454TTA[8], NC_000007.14:g.1568454TTA[9], NC_000007.14:g.1568454TTA[11], NC_000007.14:g.1568454TTA[12], NC_000007.14:g.1568454TTA[13], NC_000007.14:g.1568454TTA[14], NC_000007.14:g.1568454TTA[15], NC_000007.13:g.1608090TTA[6], NC_000007.13:g.1608090TTA[7], NC_000007.13:g.1608090TTA[8], NC_000007.13:g.1608090TTA[9], NC_000007.13:g.1608090TTA[11], NC_000007.13:g.1608090TTA[12], NC_000007.13:g.1608090TTA[13], NC_000007.13:g.1608090TTA[14], NC_000007.13:g.1608090TTA[15]

Select item 148443879018.

rs1484438790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:1570060 (GRCh38)
7:1609696 (GRCh37)
Canonical SPDI:: NC_000007.14:1570059:C:G
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.1570060C>G, NC_000007.13:g.1609696C>G

Select item 148410484819.

rs1484104848 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:1567249 (GRCh38)
7:1606885 (GRCh37)
Canonical SPDI:: NC_000007.14:1567248:G:A
Gene:: PSMG3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.1567249G>A, NC_000007.13:g.1606885G>A, NG_074263.1:g.37G>A

Select item 148392817020.

rs1483928170 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:1570908 (GRCh38)
7:1610544 (GRCh37)
Canonical SPDI:: NC_000007.14:1570907:A:G
Gene:: PSMG3 (Varview), PSMG3-AS1 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.1570908A>G, NC_000007.13:g.1610544A>G