SNP Links for Gene (Select 5689) - SNP

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Select item 14913855451.

rs1491385545 has merged into rs5881872 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAGAAAAAAAAAAGAAGCAAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAGAGAATTGAAAGAAGACTCAAAAAAAAAAGAAAAAGACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:170540601 (GRCh38)
6:170849689 (GRCh37)
Canonical SPDI:: NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAGAAGCAAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170540588:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAACAGAGAATTGAAAGAAGACTCAAAAAAAAAAGAAAAAGACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3742/1874 (1000Genomes)
HGVS:: NC_000006.12:g.170540601_170540613del, NC_000006.12:g.170540602_170540613del, NC_000006.12:g.170540603_170540613del, NC_000006.12:g.170540604_170540613del, NC_000006.12:g.170540605_170540613del, NC_000006.12:g.170540606_170540613del, NC_000006.12:g.170540607_170540613del, NC_000006.12:g.170540608_170540613del, NC_000006.12:g.170540610_170540613del, NC_000006.12:g.170540611_170540613del, NC_000006.12:g.170540612_170540613del, NC_000006.12:g.170540613del, NC_000006.12:g.170540613dup, NC_000006.12:g.170540612_170540613dup, NC_000006.12:g.170540611_170540613dup, NC_000006.12:g.170540610_170540613dup, NC_000006.12:g.170540609_170540613dup, NC_000006.12:g.170540608_170540613dup, NC_000006.12:g.170540607_170540613dup, NC_000006.12:g.170540606_170540613dup, NC_000006.12:g.170540605_170540613dup, NC_000006.12:g.170540604_170540613dup, NC_000006.12:g.170540603_170540613dup, NC_000006.12:g.170540598_170540613dup, NC_000006.12:g.170540596_170540613dup, NC_000006.12:g.170540595_170540613dup, NC_000006.12:g.170540594_170540613dup, NC_000006.12:g.170540593_170540613dup, NC_000006.12:g.170540589_170540613dup, NC_000006.12:g.170540613_170540614insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.170540589_170540613A[27]GAAAAAAAAAAGAAGCAAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.170540589_170540613A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.12:g.170540589_170540613A[25]CAGAGAATTGAAAGAAGACTCAAAAAAAAAAGAAAAAGACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.170849689_170849701del, NC_000006.11:g.170849690_170849701del, NC_000006.11:g.170849691_170849701del, NC_000006.11:g.170849692_170849701del, NC_000006.11:g.170849693_170849701del, NC_000006.11:g.170849694_170849701del, NC_000006.11:g.170849695_170849701del, NC_000006.11:g.170849696_170849701del, NC_000006.11:g.170849698_170849701del, NC_000006.11:g.170849699_170849701del, NC_000006.11:g.170849700_170849701del, NC_000006.11:g.170849701del, NC_000006.11:g.170849701dup, NC_000006.11:g.170849700_170849701dup, NC_000006.11:g.170849699_170849701dup, NC_000006.11:g.170849698_170849701dup, NC_000006.11:g.170849697_170849701dup, NC_000006.11:g.170849696_170849701dup, NC_000006.11:g.170849695_170849701dup, NC_000006.11:g.170849694_170849701dup, NC_000006.11:g.170849693_170849701dup, NC_000006.11:g.170849692_170849701dup, NC_000006.11:g.170849691_170849701dup, NC_000006.11:g.170849686_170849701dup, NC_000006.11:g.170849684_170849701dup, NC_000006.11:g.170849683_170849701dup, NC_000006.11:g.170849682_170849701dup, NC_000006.11:g.170849681_170849701dup, NC_000006.11:g.170849677_170849701dup, NC_000006.11:g.170849701_170849702insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.170849677_170849701A[27]GAAAAAAAAAAGAAGCAAATAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.170849677_170849701A[26]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.170849677_170849701A[25]CAGAGAATTGAAAGAAGACTCAAAAAAAAAAGAAAAAGACAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913271822.

rs1491327182 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAAA,AAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:170540587 (GRCh38)
6:170849676 (GRCh37)
Canonical SPDI:: NC_000006.12:170540587::A,NC_000006.12:170540587::AAAA,NC_000006.12:170540587::AAAAAAAAA,NC_000006.12:170540587::AAAAAAAAAAAAAAAAAAAA
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.170540587_170540588insA, NC_000006.12:g.170540587_170540588insAAAA, NC_000006.12:g.170540587_170540588insAAAAAAAAA, NC_000006.12:g.170540587_170540588insAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.170849675_170849676insA, NC_000006.11:g.170849675_170849676insAAAA, NC_000006.11:g.170849675_170849676insAAAAAAAAA, NC_000006.11:g.170849675_170849676insAAAAAAAAAAAAAAAAAAAA

Select item 14912552123.

rs1491255212 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 6:170540587 (GRCh38)
6:170849675 (GRCh37)
Canonical SPDI:: NC_000006.12:170540586:GC:
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.170540587_170540588del, NC_000006.11:g.170849675_170849676del

Select item 14912336094.

rs1491233609 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:170540588 (GRCh38)
6:170849676 (GRCh37)
Canonical SPDI:: NC_000006.12:170540587:CA:
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00371/44 (ALFA)
HGVS:: NC_000006.12:g.170540588_170540589del, NC_000006.11:g.170849676_170849677del

Select item 14910609085.

rs1491060908 has merged into rs373077081 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:170545158 (GRCh38)
6:170854246 (GRCh37)
Canonical SPDI:: NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:170545144:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.02862/17 (NorthernSweden)
HGVS:: NC_000006.12:g.170545158_170545161del, NC_000006.12:g.170545159_170545161del, NC_000006.12:g.170545160_170545161del, NC_000006.12:g.170545161del, NC_000006.12:g.170545161dup, NC_000006.12:g.170545160_170545161dup, NC_000006.12:g.170545159_170545161dup, NC_000006.12:g.170545156_170545161dup, NC_000006.12:g.170545151_170545161dup, NC_000006.11:g.170854246_170854249del, NC_000006.11:g.170854247_170854249del, NC_000006.11:g.170854248_170854249del, NC_000006.11:g.170854249del, NC_000006.11:g.170854249dup, NC_000006.11:g.170854248_170854249dup, NC_000006.11:g.170854247_170854249dup, NC_000006.11:g.170854244_170854249dup, NC_000006.11:g.170854239_170854249dup

Select item 14907931016.

rs1490793101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:170534682 (GRCh38)
6:170843770 (GRCh37)
Canonical SPDI:: NC_000006.12:170534681:T:G
Gene:: PSMB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170534682T>G, NC_000006.11:g.170843770T>G, NT_187553.1:g.271243T>G

Select item 14906977527.

rs1490697752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170550298 (GRCh38)
6:170859386 (GRCh37)
Canonical SPDI:: NC_000006.12:170550297:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.170550298T>C, NC_000006.11:g.170859386T>C, NG_008165.1:g.916T>C

Select item 14906268278.

rs1490626827 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:170535023 (GRCh38)
6:170844111 (GRCh37)
Canonical SPDI:: NC_000006.12:170535021:AGA:A
Gene:: PSMB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000019/2 (GnomAD)
HGVS:: NC_000006.12:g.170535023_170535024del, NC_000006.11:g.170844111_170844112del, NT_187553.1:g.271584_271585del

Select item 14905647499.

rs1490564749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:170542041 (GRCh38)
6:170851129 (GRCh37)
Canonical SPDI:: NC_000006.12:170542040:A:C
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.170542041A>C, NC_000006.11:g.170851129A>C

Select item 149055526510.

rs1490555265 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTT [Show Flanks]
Chromosome:: 6:170536005 (GRCh38)
6:170845094 (GRCh37)
Canonical SPDI:: NC_000006.12:170536005:TGTT:TGTTGTT
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTTGTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.170536007_170536009dup, NC_000006.11:g.170845095_170845097dup

Select item 149055256011.

rs1490552560 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 6:170544430 (GRCh38)
6:170853518 (GRCh37)
Canonical SPDI:: NC_000006.12:170544429:CC:
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.170544430_170544431del, NC_000006.11:g.170853518_170853519del

Select item 149054333812.

rs1490543338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170550818 (GRCh38)
6:170859906 (GRCh37)
Canonical SPDI:: NC_000006.12:170550817:A:G
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170550818A>G, NC_000006.11:g.170859906A>G, NG_008165.1:g.1436A>G

Select item 149052694413.

rs1490526944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:170544522 (GRCh38)
6:170853610 (GRCh37)
Canonical SPDI:: NC_000006.12:170544521:A:C,NC_000006.12:170544521:A:G
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
C=0.000106/2 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000006.12:g.170544522A>C, NC_000006.12:g.170544522A>G, NC_000006.11:g.170853610A>C, NC_000006.11:g.170853610A>G

Select item 149051737914.

rs1490517379 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170551565 (GRCh38)
6:170860653 (GRCh37)
Canonical SPDI:: NC_000006.12:170551564:A:G
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170551565A>G, NC_000006.11:g.170860653A>G, NG_008165.1:g.2183A>G

Select item 149048302515.

rs1490483025 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:170543647 (GRCh38)
6:170852735 (GRCh37)
Canonical SPDI:: NC_000006.12:170543646:G:C,NC_000006.12:170543646:G:T
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
T=0.000177/3 (TOMMO)
HGVS:: NC_000006.12:g.170543647G>C, NC_000006.12:g.170543647G>T, NC_000006.11:g.170852735G>C, NC_000006.11:g.170852735G>T, NM_002793.4:c.387C>G, NM_002793.4:c.387C>A, NM_002793.3:c.387C>G, NM_002793.3:c.387C>A, NP_002784.1:p.Phe129Leu, NP_002784.1:p.Phe129Leu

Select item 149044527316.

rs1490445273 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:170546068 (GRCh38)
6:170855156 (GRCh37)
Canonical SPDI:: NC_000006.12:170546067:T:C
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170546068T>C, NC_000006.11:g.170855156T>C

Select item 149020409517.

rs1490204095 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:170550904 (GRCh38)
6:170859992 (GRCh37)
Canonical SPDI:: NC_000006.12:170550902:GAG:G
Gene:: PSMB1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01028/122 (ALFA)
-=0.00068/10 (TOMMO)
-=0.1035/426 (GnomAD)
-=0.18578/716 (ALSPAC)
HGVS:: NC_000006.12:g.170550904_170550905del, NC_000006.11:g.170859992_170859993del, NG_008165.1:g.1522_1523del

Select item 149017932218.

rs1490179322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:170541560 (GRCh38)
6:170850648 (GRCh37)
Canonical SPDI:: NC_000006.12:170541559:A:G
Gene:: PSMB1 (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_000006.12:g.170541560A>G, NC_000006.11:g.170850648A>G

Select item 149016207119.

rs1490162071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:170555206 (GRCh38)
6:170864294 (GRCh37)
Canonical SPDI:: NC_000006.12:170555205:G:A,NC_000006.12:170555205:G:C
Gene:: PSMB1 (Varview), TBP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.170555206G>A, NC_000006.12:g.170555206G>C, NC_000006.11:g.170864294G>A, NC_000006.11:g.170864294G>C, NG_008165.1:g.5824G>A, NG_008165.1:g.5824G>C

Select item 149011496720.

rs1490114967 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:170535310 (GRCh38)
6:170844398 (GRCh37)
Canonical SPDI:: NC_000006.12:170535309:C:T
Gene:: PSMB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.170535310C>T, NC_000006.11:g.170844398C>T, NM_002793.4:c.636G>A, NM_002793.3:c.636G>A

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