SNP Links for Gene (Select 8624) - SNP

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Select item 14913290411.

rs1491329041 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 21:39180016 (GRCh38)
21:40551943 (GRCh37)
Canonical SPDI:: NC_000021.9:39180016::G
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.3641/2262 (ALFA)
HGVS:: NC_000021.9:g.39180016_39180017insG, NC_000021.8:g.40551942_40551943insG

Select item 14900663672.

rs1490066367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:39184874 (GRCh38)
21:40556800 (GRCh37)
Canonical SPDI:: NC_000021.9:39184873:T:G
Gene:: PSMG1 (Varview), BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.39184874T>G, NC_000021.8:g.40556800T>G, NG_029919.2:g.133913A>C, NM_018963.5:c.*2152A>C, XM_017028373.2:c.*2152A>C, XM_017028373.1:c.*2152A>C, XM_011529611.2:c.*2152A>C, XM_011529611.1:c.*2152A>C, XM_011529612.2:c.*2152A>C, XM_011529612.1:c.*2152A>C, XM_011529613.2:c.*2152A>C, XM_011529613.1:c.*2152A>C

Select item 14900563673.

rs1490056367 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:39180063 (GRCh38)
21:40551989 (GRCh37)
Canonical SPDI:: NC_000021.9:39180062:T:G
Gene:: PSMG1 (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_000021.9:g.39180063T>G, NC_000021.8:g.40551989T>G

Select item 14899838544.

rs1489983854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39181063 (GRCh38)
21:40552989 (GRCh37)
Canonical SPDI:: NC_000021.9:39181062:T:C
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39181063T>C, NC_000021.8:g.40552989T>C

Select item 14897622085.

rs1489762208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39176434 (GRCh38)
21:40548360 (GRCh37)
Canonical SPDI:: NC_000021.9:39176433:G:A
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.39176434G>A, NC_000021.8:g.40548360G>A

Select item 14895542606.

rs1489554260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:39179485 (GRCh38)
21:40551411 (GRCh37)
Canonical SPDI:: NC_000021.9:39179484:C:T
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.25/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.39179485C>T, NC_000021.8:g.40551411C>T

Select item 14895252287.

rs1489525228 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39180081 (GRCh38)
21:40552007 (GRCh37)
Canonical SPDI:: NC_000021.9:39180080:T:C
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39180081T>C, NC_000021.8:g.40552007T>C

Select item 14891018068.

rs1489101806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:39183263 (GRCh38)
21:40555189 (GRCh37)
Canonical SPDI:: NC_000021.9:39183262:C:A
Gene:: PSMG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000021.9:g.39183263C>A, NC_000021.8:g.40555189C>A, NM_003720.4:c.123G>T, NM_003720.3:c.123G>T, XM_024452135.2:c.-162G>T, XM_024452135.1:c.-162G>T, NM_203433.2:c.123G>T, NM_001320795.1:c.-327G>T, NM_001261824.1:c.123G>T, NR_049728.1:n.252G>T

Select item 14886415179.

rs1488641517 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:39179942 (GRCh38)
21:40551868 (GRCh37)
Canonical SPDI:: NC_000021.9:39179941:C:A,NC_000021.9:39179941:C:T
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.39179942C>A, NC_000021.9:g.39179942C>T, NC_000021.8:g.40551868C>A, NC_000021.8:g.40551868C>T, NM_003720.4:c.438G>T, NM_003720.4:c.438G>A, NM_003720.3:c.438G>T, NM_003720.3:c.438G>A, XM_024452135.2:c.177G>T, XM_024452135.2:c.177G>A, XM_024452135.1:c.177G>T, XM_024452135.1:c.177G>A, NM_001320795.1:c.177G>T, NM_001320795.1:c.177G>A, NM_001261824.1:c.423G>T, NM_001261824.1:c.423G>A, NR_049728.1:n.460G>T, NR_049728.1:n.460G>A, NP_003711.1:p.Gln146His, XP_024307903.1:p.Gln59His, NP_001307724.1:p.Gln59His, NP_001248753.1:p.Gln141His

Select item 148853796210.

rs1488537962 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:39180626 (GRCh38)
21:40552552 (GRCh37)
Canonical SPDI:: NC_000021.9:39180625:G:C
Gene:: PSMG1 (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_000021.9:g.39180626G>C, NC_000021.8:g.40552552G>C

Select item 148850930011.

rs1488509300 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:39180926 (GRCh38)
21:40552852 (GRCh37)
Canonical SPDI:: NC_000021.9:39180925:T:C
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.39180926T>C, NC_000021.8:g.40552852T>C

Select item 148800657812.

rs1488006578 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:39180382 (GRCh38)
21:40552308 (GRCh37)
Canonical SPDI:: NC_000021.9:39180381:G:A
Gene:: PSMG1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.39180382G>A, NC_000021.8:g.40552308G>A, NM_003720.4:c.296C>T, NM_003720.3:c.296C>T, XM_024452135.2:c.35C>T, XM_024452135.1:c.35C>T, NM_203433.2:c.296C>T, NM_001320795.1:c.35C>T, NM_001261824.1:c.296C>T, NR_049728.1:n.318C>T, NP_003711.1:p.Ala99Val, XP_024307903.1:p.Ala12Val, NP_982257.1:p.Ala99Val, NP_001307724.1:p.Ala12Val, NP_001248753.1:p.Ala99Val

Select item 148788986313.

rs1487889863 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 21:39179613 (GRCh38)
21:40551539 (GRCh37)
Canonical SPDI:: NC_000021.9:39179607:AAAGAAAGA:AAAGA
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAGA=0./0 (ALFA)
HGVS:: NC_000021.9:g.39179609AAGA[1], NC_000021.8:g.40551535AAGA[1]

Select item 148785598514.

rs1487855985 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 21:39181319 (GRCh38)
21:40553245 (GRCh37)
Canonical SPDI:: NC_000021.9:39181318:T:C,NC_000021.9:39181318:T:G
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39181319T>C, NC_000021.9:g.39181319T>G, NC_000021.8:g.40553245T>C, NC_000021.8:g.40553245T>G

Select item 148719841115.

rs1487198411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:39175325 (GRCh38)
21:40547251 (GRCh37)
Canonical SPDI:: NC_000021.9:39175324:A:C
Gene:: PSMG1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000021.9:g.39175325A>C, NC_000021.8:g.40547251A>C, NM_003720.4:c.*265T>G, XM_024452135.2:c.*265T>G

Select item 148685405816.

rs1486854058 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 21:39184013 (GRCh38)
21:40555939 (GRCh37)
Canonical SPDI:: NC_000021.9:39184012:G:A,NC_000021.9:39184012:G:T
Gene:: PSMG1 (Varview), BRWD1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.39184013G>A, NC_000021.9:g.39184013G>T, NC_000021.8:g.40555939G>A, NC_000021.8:g.40555939G>T, NG_029919.2:g.134774C>T, NG_029919.2:g.134774C>A

Select item 148680284317.

rs1486802843 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39184827 (GRCh38)
21:40556753 (GRCh37)
Canonical SPDI:: NC_000021.9:39184826:A:G
Gene:: PSMG1 (Varview), BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39184827A>G, NC_000021.8:g.40556753A>G, NG_029919.2:g.133960T>C, NM_018963.5:c.*2199T>C, XM_017028373.2:c.*2199T>C, XM_017028373.1:c.*2199T>C, XM_011529611.2:c.*2199T>C, XM_011529611.1:c.*2199T>C, XM_011529612.2:c.*2199T>C, XM_011529612.1:c.*2199T>C, XM_011529613.2:c.*2199T>C, XM_011529613.1:c.*2199T>C

Select item 148668470118.

rs1486684701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:39185223 (GRCh38)
21:40557149 (GRCh37)
Canonical SPDI:: NC_000021.9:39185222:C:A
Gene:: PSMG1 (Varview), BRWD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000023/3 (GnomAD)
HGVS:: NC_000021.9:g.39185223C>A, NC_000021.8:g.40557149C>A, NG_029919.2:g.133564G>T, NM_018963.5:c.*1803G>T, XM_017028373.2:c.*1803G>T, XM_017028373.1:c.*1803G>T, XM_011529611.2:c.*1803G>T, XM_011529611.1:c.*1803G>T, XM_011529612.2:c.*1803G>T, XM_011529612.1:c.*1803G>T, XM_011529613.2:c.*1803G>T, XM_011529613.1:c.*1803G>T

Select item 148639297419.

rs1486392974 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:39178199 (GRCh38)
21:40550125 (GRCh37)
Canonical SPDI:: NC_000021.9:39178198:A:C
Gene:: PSMG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.39178199A>C, NC_000021.8:g.40550125A>C

Select item 148630703320.

rs1486307033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:39178597 (GRCh38)
21:40550523 (GRCh37)
Canonical SPDI:: NC_000021.9:39178596:A:G
Gene:: PSMG1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000021.9:g.39178597A>G, NC_000021.8:g.40550523A>G, NM_003720.4:c.507T>C, NM_003720.3:c.507T>C, XM_024452135.2:c.246T>C, XM_024452135.1:c.246T>C, NM_203433.2:c.444T>C, NM_001320795.1:c.246T>C, NM_001261824.1:c.492T>C, NR_049728.1:n.529T>C

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