SNP Links for Protein (Select 39995064) - SNP

Links from Protein

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Select item 14905618921.

rs1490561892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94180043 (GRCh38)
11:93913209 (GRCh37)
Canonical SPDI:: NC_000011.10:94180042:C:G
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180043C>G, NC_000011.9:g.93913209C>G, NG_027936.1:g.56116C>G, NM_015368.4:c.987C>G, NM_015368.3:c.987C>G, XM_011542734.3:c.561C>G, XM_011542734.2:c.561C>G, XM_011542734.1:c.561C>G, XM_047426702.1:c.561C>G, NP_056183.2:p.Ser329Arg, XP_011541036.1:p.Ser187Arg, XP_047282658.1:p.Ser187Arg

Select item 14894975502.

rs1489497550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94129328 (GRCh38)
11:93862494 (GRCh37)
Canonical SPDI:: NC_000011.10:94129327:C:T
Gene:: PANX1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94129328C>T, NC_000011.9:g.93862494C>T, NG_027936.1:g.5401C>T, NM_015368.4:c.16C>T, NM_015368.3:c.16C>T

Select item 14893640163.

rs1489364016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94178513 (GRCh38)
11:93911679 (GRCh37)
Canonical SPDI:: NC_000011.10:94178512:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94178513G>A, NC_000011.9:g.93911679G>A, NG_027936.1:g.54586G>A, NM_015368.4:c.466G>A, NM_015368.3:c.466G>A, XM_011542734.3:c.40G>A, XM_011542734.2:c.40G>A, XM_011542734.1:c.40G>A, XM_047426702.1:c.40G>A, NP_056183.2:p.Ala156Thr, XP_011541036.1:p.Ala14Thr, XP_047282658.1:p.Ala14Thr

Select item 14883866954.

rs1488386695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:94179955 (GRCh38)
11:93913121 (GRCh37)
Canonical SPDI:: NC_000011.10:94179954:G:A,NC_000011.10:94179954:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94179955G>A, NC_000011.10:g.94179955G>T, NC_000011.9:g.93913121G>A, NC_000011.9:g.93913121G>T, NG_027936.1:g.56028G>A, NG_027936.1:g.56028G>T, NM_015368.4:c.899G>A, NM_015368.4:c.899G>T, NM_015368.3:c.899G>A, NM_015368.3:c.899G>T, XM_011542734.3:c.473G>A, XM_011542734.3:c.473G>T, XM_011542734.2:c.473G>A, XM_011542734.2:c.473G>T, XM_011542734.1:c.473G>A, XM_011542734.1:c.473G>T, XM_047426702.1:c.473G>A, XM_047426702.1:c.473G>T, NP_056183.2:p.Arg300Gln, NP_056183.2:p.Arg300Leu, XP_011541036.1:p.Arg158Gln, XP_011541036.1:p.Arg158Leu, XP_047282658.1:p.Arg158Gln, XP_047282658.1:p.Arg158Leu

Select item 14839430635.

rs1483943063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94153621 (GRCh38)
11:93886787 (GRCh37)
Canonical SPDI:: NC_000011.10:94153620:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94153621G>A, NC_000011.9:g.93886787G>A, NG_027936.1:g.29694G>A, NM_015368.4:c.312G>A, NM_015368.3:c.312G>A, XM_011542734.3:c.-361G>A, XM_011542734.2:c.-361G>A, XM_011542734.1:c.-361G>A, XM_047426702.1:c.-257G>A, NP_056183.2:p.Trp104Ter

Select item 14823460226.

rs1482346022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94178525 (GRCh38)
11:93911691 (GRCh37)
Canonical SPDI:: NC_000011.10:94178524:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94178525G>A, NC_000011.9:g.93911691G>A, NG_027936.1:g.54598G>A, NM_015368.4:c.478G>A, NM_015368.3:c.478G>A, XM_011542734.3:c.52G>A, XM_011542734.2:c.52G>A, XM_011542734.1:c.52G>A, XM_047426702.1:c.52G>A, NP_056183.2:p.Ala160Thr, XP_011541036.1:p.Ala18Thr, XP_047282658.1:p.Ala18Thr

Select item 14810991847.

rs1481099184 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94179901 (GRCh38)
11:93913067 (GRCh37)
Canonical SPDI:: NC_000011.10:94179900:T:C
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94179901T>C, NC_000011.9:g.93913067T>C, NG_027936.1:g.55974T>C, NM_015368.4:c.845T>C, NM_015368.3:c.845T>C, XM_011542734.3:c.419T>C, XM_011542734.2:c.419T>C, XM_011542734.1:c.419T>C, XM_047426702.1:c.419T>C, NP_056183.2:p.Val282Ala, XP_011541036.1:p.Val140Ala, XP_047282658.1:p.Val140Ala

Select item 14808898418.

rs1480889841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:94179974 (GRCh38)
11:93913140 (GRCh37)
Canonical SPDI:: NC_000011.10:94179973:C:G
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94179974C>G, NC_000011.9:g.93913140C>G, NG_027936.1:g.56047C>G, NM_015368.4:c.918C>G, NM_015368.3:c.918C>G, XM_011542734.3:c.492C>G, XM_011542734.2:c.492C>G, XM_011542734.1:c.492C>G, XM_047426702.1:c.492C>G

Select item 14788424529.

rs1478842452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:94178442 (GRCh38)
11:93911608 (GRCh37)
Canonical SPDI:: NC_000011.10:94178441:C:T
Gene:: PANX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94178442C>T, NC_000011.9:g.93911608C>T, NG_027936.1:g.54515C>T, NM_015368.4:c.395C>T, NM_015368.3:c.395C>T, XM_011542734.3:c.-32C>T, XM_011542734.2:c.-32C>T, XM_011542734.1:c.-32C>T, XM_047426702.1:c.-32C>T, NP_056183.2:p.Ala132Val

Select item 147343520110.

rs1473435201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:94153570 (GRCh38)
11:93886736 (GRCh37)
Canonical SPDI:: NC_000011.10:94153569:T:C
Gene:: PANX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.94153570T>C, NC_000011.9:g.93886736T>C, NG_027936.1:g.29643T>C, NM_015368.4:c.261T>C, NM_015368.3:c.261T>C, XM_011542734.3:c.-412T>C, XM_011542734.2:c.-412T>C, XM_011542734.1:c.-412T>C, XM_047426702.1:c.-308T>C

Select item 147278391911.

rs1472783919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:94180848 (GRCh38)
11:93914014 (GRCh37)
Canonical SPDI:: NC_000011.10:94180847:A:T
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.94180848A>T, NC_000011.9:g.93914014A>T, NG_027936.1:g.56921A>T, NM_015368.4:c.1260A>T, NM_015368.3:c.1260A>T, XM_011542734.3:c.834A>T, XM_011542734.2:c.834A>T, XM_011542734.1:c.834A>T, XM_047426702.1:c.834A>T, NP_056183.2:p.Arg420Ser, XP_011541036.1:p.Arg278Ser, XP_047282658.1:p.Arg278Ser

Select item 147037775112.

rs1470377751 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:94179917 (GRCh38)
11:93913083 (GRCh37)
Canonical SPDI:: NC_000011.10:94179916:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.94179917G>T, NC_000011.9:g.93913083G>T, NG_027936.1:g.55990G>T, NM_015368.4:c.861G>T, NM_015368.3:c.861G>T, XM_011542734.3:c.435G>T, XM_011542734.2:c.435G>T, XM_011542734.1:c.435G>T, XM_047426702.1:c.435G>T

Select item 146867255113.

rs1468672551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94180161 (GRCh38)
11:93913327 (GRCh37)
Canonical SPDI:: NC_000011.10:94180160:A:G
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.94180161A>G, NC_000011.9:g.93913327A>G, NG_027936.1:g.56234A>G, NM_015368.4:c.1105A>G, NM_015368.3:c.1105A>G, XM_011542734.3:c.679A>G, XM_011542734.2:c.679A>G, XM_011542734.1:c.679A>G, XM_047426702.1:c.679A>G, NP_056183.2:p.Asn369Asp, XP_011541036.1:p.Asn227Asp, XP_047282658.1:p.Asn227Asp

Select item 146657174414.

rs1466571744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:94180182 (GRCh38)
11:93913348 (GRCh37)
Canonical SPDI:: NC_000011.10:94180181:G:C
Gene:: PANX1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.94180182G>C, NC_000011.9:g.93913348G>C, NG_027936.1:g.56255G>C, NM_015368.4:c.1126G>C, NM_015368.3:c.1126G>C, XM_011542734.3:c.700G>C, XM_011542734.2:c.700G>C, XM_011542734.1:c.700G>C, XM_047426702.1:c.700G>C, NP_056183.2:p.Asp376His, XP_011541036.1:p.Asp234His, XP_047282658.1:p.Asp234His

Select item 146301064015.

rs1463010640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:94179809 (GRCh38)
11:93912975 (GRCh37)
Canonical SPDI:: NC_000011.10:94179808:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.94179809G>T, NC_000011.9:g.93912975G>T, NG_027936.1:g.55882G>T, NM_015368.4:c.753G>T, NM_015368.3:c.753G>T, XM_011542734.3:c.327G>T, XM_011542734.2:c.327G>T, XM_011542734.1:c.327G>T, XM_047426702.1:c.327G>T

Select item 144775777916.

rs1447757779 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:94178490 (GRCh38)
11:93911656 (GRCh37)
Canonical SPDI:: NC_000011.10:94178489:A:G
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94178490A>G, NC_000011.9:g.93911656A>G, NG_027936.1:g.54563A>G, NM_015368.4:c.443A>G, NM_015368.3:c.443A>G, XM_011542734.3:c.17A>G, XM_011542734.2:c.17A>G, XM_011542734.1:c.17A>G, XM_047426702.1:c.17A>G, NP_056183.2:p.Lys148Arg, XP_011541036.1:p.Lys6Arg, XP_047282658.1:p.Lys6Arg

Select item 144698391717.

rs1446983917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:94179747 (GRCh38)
11:93912913 (GRCh37)
Canonical SPDI:: NC_000011.10:94179746:C:G,NC_000011.10:94179746:C:T
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94179747C>G, NC_000011.10:g.94179747C>T, NC_000011.9:g.93912913C>G, NC_000011.9:g.93912913C>T, NG_027936.1:g.55820C>G, NG_027936.1:g.55820C>T, NM_015368.4:c.691C>G, NM_015368.4:c.691C>T, NM_015368.3:c.691C>G, NM_015368.3:c.691C>T, XM_011542734.3:c.265C>G, XM_011542734.3:c.265C>T, XM_011542734.2:c.265C>G, XM_011542734.2:c.265C>T, XM_011542734.1:c.265C>G, XM_011542734.1:c.265C>T, XM_047426702.1:c.265C>G, XM_047426702.1:c.265C>T, NP_056183.2:p.Leu231Val, XP_011541036.1:p.Leu89Val, XP_047282658.1:p.Leu89Val

Select item 144553814218.

rs1445538142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:94178407 (GRCh38)
11:93911573 (GRCh37)
Canonical SPDI:: NC_000011.10:94178406:G:A,NC_000011.10:94178406:G:T
Gene:: PANX1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.94178407G>A, NC_000011.10:g.94178407G>T, NC_000011.9:g.93911573G>A, NC_000011.9:g.93911573G>T, NG_027936.1:g.54480G>A, NG_027936.1:g.54480G>T, NM_015368.4:c.360G>A, NM_015368.4:c.360G>T, NM_015368.3:c.360G>A, NM_015368.3:c.360G>T, XM_011542734.3:c.-67G>A, XM_011542734.3:c.-67G>T, XM_011542734.2:c.-67G>A, XM_011542734.2:c.-67G>T, XM_011542734.1:c.-67G>A, XM_011542734.1:c.-67G>T, XM_047426702.1:c.-67G>A, XM_047426702.1:c.-67G>T

Select item 144547525219.

rs1445475252 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:94129429 (GRCh38)
11:93862595 (GRCh37)
Canonical SPDI:: NC_000011.10:94129428:G:A,NC_000011.10:94129428:G:C
Gene:: PANX1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.94129429G>A, NC_000011.10:g.94129429G>C, NC_000011.9:g.93862595G>A, NC_000011.9:g.93862595G>C, NG_027936.1:g.5502G>A, NG_027936.1:g.5502G>C, NM_015368.4:c.117G>A, NM_015368.4:c.117G>C, NM_015368.3:c.117G>A, NM_015368.3:c.117G>C

Select item 144525410820.

rs1445254108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:94178542 (GRCh38)
11:93911708 (GRCh37)
Canonical SPDI:: NC_000011.10:94178541:G:A
Gene:: PANX1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.94178542G>A, NC_000011.9:g.93911708G>A, NG_027936.1:g.54615G>A, NM_015368.4:c.495G>A, NM_015368.3:c.495G>A, XM_011542734.3:c.69G>A, XM_011542734.2:c.69G>A, XM_011542734.1:c.69G>A, XM_047426702.1:c.69G>A, NP_056183.2:p.Met165Ile, XP_011541036.1:p.Met23Ile, XP_047282658.1:p.Met23Ile

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