SNP Links for Gene (Select 80162) - SNP

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Select item 14913085781.

rs1491308578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 11:291761 (GRCh38)
11:291762 (GRCh37)
Canonical SPDI:: NC_000011.10:291761:GCG:GCGCG
Gene:: PGGHG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GC=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.291763_291764dup, NC_000011.9:g.291763_291764dup

Select item 14906207172.

rs1490620717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:290510 (GRCh38)
11:290510 (GRCh37)
Canonical SPDI:: NC_000011.10:290509:G:A
Gene:: PGGHG (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.290510G>A, NC_000011.9:g.290510G>A, NM_025092.5:c.380G>A, NM_025092.4:c.380G>A, XM_011520385.4:c.380G>A, XM_011520385.3:c.380G>A, XM_011520385.2:c.380G>A, XM_011520385.1:c.380G>A, XM_011520384.3:c.380G>A, XM_011520384.2:c.380G>A, XM_011520384.1:c.380G>A, XM_011520386.3:c.380G>A, XM_011520386.2:c.380G>A, XM_011520386.1:c.380G>A, XM_011520387.3:c.380G>A, XM_011520387.2:c.380G>A, XM_011520387.1:c.380G>A, XM_017018355.2:c.380G>A, XM_017018355.1:c.380G>A, XR_007062505.1:n.516G>A, XM_047427634.1:c.380G>A, XM_047427633.1:c.380G>A, NP_079368.3:p.Ser127Asn, XP_011518687.1:p.Ser127Asn, XP_011518686.1:p.Ser127Asn, XP_011518688.1:p.Ser127Asn, XP_011518689.1:p.Ser127Asn, XP_016873844.1:p.Ser127Asn, XP_047283590.1:p.Ser127Asn, XP_047283589.1:p.Ser127Asn

Select item 14906004733.

rs1490600473 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:294767 (GRCh38)
11:294767 (GRCh37)
Canonical SPDI:: NC_000011.10:294766:A:G
Gene:: PGGHG (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.294767A>G, NC_000011.9:g.294767A>G, NM_025092.5:c.*18A>G, NM_025092.4:c.*18A>G, XM_011520384.3:c.*18A>G, XM_011520384.2:c.*18A>G, XM_011520384.1:c.*18A>G, XM_017018355.2:c.*18A>G, XM_017018355.1:c.*18A>G

Select item 14900316474.

rs1490031647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:289119 (GRCh38)
11:289119 (GRCh37)
Canonical SPDI:: NC_000011.10:289118:G:A
Gene:: PGGHG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.289119G>A, NC_000011.9:g.289119G>A

Select item 14899809395.

rs1489980939 [Homo sapiens]

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

Select item 14897497286.

rs1489749728 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:291655 (GRCh38)
11:291655 (GRCh37)
Canonical SPDI:: NC_000011.10:291654:T:G
Gene:: PGGHG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000057/8 (GnomAD)
G=0.000156/1 (1000Genomes)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.291655T>G, NC_000011.9:g.291655T>G

Select item 14895183067.

rs1489518306 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:293281 (GRCh38)
11:293281 (GRCh37)
Canonical SPDI:: NC_000011.10:293280:G:A
Gene:: PGGHG (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.293281G>A, NC_000011.9:g.293281G>A, XR_007062505.1:n.1525G>A

Select item 14894880248.

rs1489488024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:293874 (GRCh38)
11:293874 (GRCh37)
Canonical SPDI:: NC_000011.10:293873:G:A
Gene:: PGGHG (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant
HGVS:: NC_000011.10:g.293874G>A, NC_000011.9:g.293874G>A, NM_025092.5:c.1659G>A, NM_025092.4:c.1659G>A, XM_011520384.3:c.1659G>A, XM_011520384.2:c.1659G>A, XM_011520384.1:c.1659G>A, XM_017018355.2:c.1659G>A, XM_017018355.1:c.1659G>A, XM_047427634.1:c.*74G>A, XM_047427633.1:c.1543G>A, XP_047283589.1:p.Gly515Ser

Select item 14891274019.

rs1489127401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:292011 (GRCh38)
11:292011 (GRCh37)
Canonical SPDI:: NC_000011.10:292010:C:T
Gene:: PGGHG (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.292011C>T, NC_000011.9:g.292011C>T, NM_025092.5:c.942C>T, NM_025092.4:c.942C>T, XM_011520385.4:c.942C>T, XM_011520385.3:c.942C>T, XM_011520385.2:c.942C>T, XM_011520385.1:c.942C>T, XM_011520384.3:c.942C>T, XM_011520384.2:c.942C>T, XM_011520384.1:c.942C>T, XM_011520386.3:c.942C>T, XM_011520386.2:c.942C>T, XM_011520386.1:c.942C>T, XM_011520387.3:c.942C>T, XM_011520387.2:c.942C>T, XM_011520387.1:c.942C>T, XM_017018355.2:c.942C>T, XM_017018355.1:c.942C>T, XR_007062505.1:n.1078C>T, XM_047427634.1:c.942C>T, XM_047427633.1:c.942C>T

Select item 148893042510.

rs1488930425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:291634 (GRCh38)
11:291634 (GRCh37)
Canonical SPDI:: NC_000011.10:291633:G:A
Gene:: PGGHG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.291634G>A, NC_000011.9:g.291634G>A

Select item 148888589711.

rs1488885897 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:289169 (GRCh38)
11:289169 (GRCh37)
Canonical SPDI:: NC_000011.10:289168:C:T
Gene:: PGGHG (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000011.10:g.289169C>T, NC_000011.9:g.289169C>T, NM_025092.5:c.-84C>T, NM_025092.4:c.-84C>T, XM_011520385.4:c.-93C>T, XM_011520385.3:c.-93C>T, XM_011520385.2:c.-93C>T, XM_011520385.1:c.-93C>T, XM_011520384.3:c.-93C>T, XM_011520384.2:c.-93C>T, XM_011520384.1:c.-93C>T, XM_011520386.3:c.-93C>T, XM_011520386.2:c.-93C>T, XM_011520386.1:c.-93C>T, XM_011520387.3:c.-93C>T, XM_011520387.2:c.-93C>T, XM_011520387.1:c.-93C>T, XM_017018355.2:c.-93C>T, XM_017018355.1:c.-93C>T, XR_007062505.1:n.44C>T, XM_047427634.1:c.-93C>T, XM_047427633.1:c.-93C>T

Select item 148861870812.

rs1488618708 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:286401 (GRCh38)
11:286401 (GRCh37)
Canonical SPDI:: NC_000011.10:286400:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.286401A>G, NC_000011.9:g.286401A>G, NG_050573.1:g.13037A>G

Select item 148861142013.

rs1488611420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:287828 (GRCh38)
11:287828 (GRCh37)
Canonical SPDI:: NC_000011.10:287827:C:G,NC_000011.10:287827:C:T
Gene:: PGGHG (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/1 (GnomAD)
G=0.004452/13 (KOREAN)
HGVS:: NC_000011.10:g.287828C>G, NC_000011.10:g.287828C>T, NC_000011.9:g.287828C>G, NC_000011.9:g.287828C>T

Select item 148857744614.

rs1488577446 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:285942 (GRCh38)
11:285942 (GRCh37)
Canonical SPDI:: NC_000011.10:285941:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.285942A>T, NC_000011.9:g.285942A>T, NG_050573.1:g.12578A>T

Select item 148825293015.

rs1488252930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:286296 (GRCh38)
11:286296 (GRCh37)
Canonical SPDI:: NC_000011.10:286295:C:A,NC_000011.10:286295:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.286296C>A, NC_000011.10:g.286296C>G, NC_000011.9:g.286296C>A, NC_000011.9:g.286296C>G, NG_050573.1:g.12932C>A, NG_050573.1:g.12932C>G

Select item 148800628116.

rs1488006281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:294398 (GRCh38)
11:294398 (GRCh37)
Canonical SPDI:: NC_000011.10:294397:T:A
Gene:: PGGHG (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.294398T>A, NC_000011.9:g.294398T>A, NM_025092.5:c.1940T>A, NM_025092.4:c.1940T>A, XM_011520384.3:c.1886T>A, XM_011520384.2:c.1886T>A, XM_011520384.1:c.1886T>A, XM_017018355.2:c.1940T>A, XM_017018355.1:c.1940T>A, NP_079368.3:p.Val647Asp, XP_011518686.1:p.Val629Asp, XP_016873844.1:p.Val647Asp

Select item 148792040017.

rs1487920400 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGC>- [Show Flanks]
Chromosome:: 11:290994 (GRCh38)
11:290994 (GRCh37)
Canonical SPDI:: NC_000011.10:290992:CCTGC:C
Gene:: PGGHG (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000011.10:g.290994_290997del, NC_000011.9:g.290994_290997del, NM_025092.5:c.787_790del, NM_025092.4:c.787_790del, XM_011520385.4:c.787_790del, XM_011520385.3:c.787_790del, XM_011520385.2:c.787_790del, XM_011520385.1:c.787_790del, XM_011520384.3:c.787_790del, XM_011520384.2:c.787_790del, XM_011520384.1:c.787_790del, XM_011520386.3:c.787_790del, XM_011520386.2:c.787_790del, XM_011520386.1:c.787_790del, XM_011520387.3:c.787_790del, XM_011520387.2:c.787_790del, XM_011520387.1:c.787_790del, XM_017018355.2:c.787_790del, XM_017018355.1:c.787_790del, XR_007062505.1:n.923_926del, XM_047427634.1:c.787_790del, XM_047427633.1:c.787_790del, NP_079368.3:p.Leu263fs, XP_011518687.1:p.Leu263fs, XP_011518686.1:p.Leu263fs, XP_011518688.1:p.Leu263fs, XP_011518689.1:p.Leu263fs, XP_016873844.1:p.Leu263fs, XP_047283590.1:p.Leu263fs, XP_047283589.1:p.Leu263fs

Select item 148785441018.

rs1487854410 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCGCTGTGGCCGT>- [Show Flanks]
Chromosome:: 11:291637 (GRCh38)
11:291637 (GRCh37)
Canonical SPDI:: NC_000011.10:291634:GTGCTGCCGCTGTGGCCGT:GT
Gene:: PGGHG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.291637_291653del, NC_000011.9:g.291637_291653del

Select item 148782620919.

rs1487826209 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:295454 (GRCh38)
11:295454 (GRCh37)
Canonical SPDI:: NC_000011.10:295453:C:T
Gene:: PGGHG (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.295454C>T, NC_000011.9:g.295454C>T, NM_025092.5:c.*705C>T, NM_025092.4:c.*705C>T, XM_011520384.3:c.*705C>T, XM_011520384.2:c.*705C>T, XM_011520384.1:c.*705C>T, XM_017018355.2:c.*705C>T, XM_017018355.1:c.*705C>T

Select item 148714474520.

rs1487144745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:292732 (GRCh38)
11:292732 (GRCh37)
Canonical SPDI:: NC_000011.10:292731:C:G
Gene:: PGGHG (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.292732C>G, NC_000011.9:g.292732C>G

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