SNP Links for Protein (Select 530392757) - SNP

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Links from Protein

Items: 1 to 20 of 203

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Select item 14899238751.

rs1489923875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79347673 (GRCh38)
10:81107429 (GRCh37)
Canonical SPDI:: NC_000010.11:79347672:C:T
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000528/8 (ALFA)
T=0.000036/5 (GnomAD)
T=0.001786/8 (Estonian)
HGVS:: NC_000010.11:g.79347673C>T, NC_000010.10:g.81107429C>T, NM_005729.4:c.125C>T, NM_005729.3:c.125C>T, XM_005269379.3:c.125C>T, XM_005269379.2:c.125C>T, XM_005269379.1:c.125C>T, NP_005720.1:p.Ser42Phe, XP_005269436.1:p.Ser42Phe

Select item 14879028352.

rs1487902835 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79347720 (GRCh38)
10:81107476 (GRCh37)
Canonical SPDI:: NC_000010.11:79347719:C:T
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79347720C>T, NC_000010.10:g.81107476C>T, NM_005729.4:c.172C>T, NM_005729.3:c.172C>T, XM_005269379.3:c.172C>T, XM_005269379.2:c.172C>T, XM_005269379.1:c.172C>T, NP_005720.1:p.Pro58Ser, XP_005269436.1:p.Pro58Ser

Select item 14861805773.

rs1486180577 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79347608 (GRCh38)
10:81107364 (GRCh37)
Canonical SPDI:: NC_000010.11:79347607:G:A
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.79347608G>A, NC_000010.10:g.81107364G>A, NM_005729.4:c.60G>A, NM_005729.3:c.60G>A, XM_005269379.3:c.60G>A, XM_005269379.2:c.60G>A, XM_005269379.1:c.60G>A

Select item 14737832964.

rs1473783296 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:79351537 (GRCh38)
10:81111293 (GRCh37)
Canonical SPDI:: NC_000010.11:79351536:A:C
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79351537A>C, NC_000010.10:g.81111293A>C, NM_005729.4:c.366A>C, NM_005729.3:c.366A>C, XM_005269379.3:c.366A>C, XM_005269379.2:c.366A>C, XM_005269379.1:c.366A>C

Select item 14725164215.

rs1472516421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79352330 (GRCh38)
10:81112086 (GRCh37)
Canonical SPDI:: NC_000010.11:79352329:G:A
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.79352330G>A, NC_000010.10:g.81112086G>A, NM_005729.4:c.426G>A, NM_005729.3:c.426G>A, XM_005269379.3:c.426G>A, XM_005269379.2:c.426G>A, XM_005269379.1:c.426G>A, NP_005720.1:p.Met142Ile, XP_005269436.1:p.Met142Ile

Select item 14691690856.

rs1469169085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79352377 (GRCh38)
10:81112133 (GRCh37)
Canonical SPDI:: NC_000010.11:79352376:C:T
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79352377C>T, NC_000010.10:g.81112133C>T, NM_005729.4:c.473C>T, NM_005729.3:c.473C>T, XM_005269379.3:c.473C>T, XM_005269379.2:c.473C>T, XM_005269379.1:c.473C>T, NP_005720.1:p.Thr158Ile, XP_005269436.1:p.Thr158Ile

Select item 14618250657.

rs1461825065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79353749 (GRCh38)
10:81113505 (GRCh37)
Canonical SPDI:: NC_000010.11:79353748:C:T
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79353749C>T, NC_000010.10:g.81113505C>T, NM_005729.4:c.531C>T, NM_005729.3:c.531C>T, XM_005269379.3:c.593C>T, XM_005269379.2:c.593C>T, XM_005269379.1:c.593C>T, XP_005269436.1:p.Ala198Val

Select item 14606490378.

rs1460649037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79353648 (GRCh38)
10:81113404 (GRCh37)
Canonical SPDI:: NC_000010.11:79353647:C:T
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.79353648C>T, NC_000010.10:g.81113404C>T, XM_005269379.3:c.492C>T, XM_005269379.2:c.492C>T, XM_005269379.1:c.492C>T

Select item 14584127529.

rs1458412752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79352346 (GRCh38)
10:81112102 (GRCh37)
Canonical SPDI:: NC_000010.11:79352345:A:G
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.79352346A>G, NC_000010.10:g.81112102A>G, NM_005729.4:c.442A>G, NM_005729.3:c.442A>G, XM_005269379.3:c.442A>G, XM_005269379.2:c.442A>G, XM_005269379.1:c.442A>G, NP_005720.1:p.Asn148Asp, XP_005269436.1:p.Asn148Asp

Select item 145573440210.

rs1455734402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79347727 (GRCh38)
10:81107483 (GRCh37)
Canonical SPDI:: NC_000010.11:79347726:G:A
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.79347727G>A, NC_000010.10:g.81107483G>A, NM_005729.4:c.179G>A, NM_005729.3:c.179G>A, XM_005269379.3:c.179G>A, XM_005269379.2:c.179G>A, XM_005269379.1:c.179G>A, NP_005720.1:p.Gly60Asp, XP_005269436.1:p.Gly60Asp

Select item 145278595911.

rs1452785959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:79347569 (GRCh38)
10:81107325 (GRCh37)
Canonical SPDI:: NC_000010.11:79347568:C:G,NC_000010.11:79347568:C:T
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000010.11:g.79347569C>G, NC_000010.11:g.79347569C>T, NC_000010.10:g.81107325C>G, NC_000010.10:g.81107325C>T, NM_005729.4:c.21C>G, NM_005729.4:c.21C>T, NM_005729.3:c.21C>G, NM_005729.3:c.21C>T, XM_005269379.3:c.21C>G, XM_005269379.3:c.21C>T, XM_005269379.2:c.21C>G, XM_005269379.2:c.21C>T, XM_005269379.1:c.21C>G, XM_005269379.1:c.21C>T

Select item 144234058112.

rs1442340581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:79352351 (GRCh38)
10:81112107 (GRCh37)
Canonical SPDI:: NC_000010.11:79352350:C:G
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.79352351C>G, NC_000010.10:g.81112107C>G, NM_005729.4:c.447C>G, NM_005729.3:c.447C>G, XM_005269379.3:c.447C>G, XM_005269379.2:c.447C>G, XM_005269379.1:c.447C>G

Select item 144176465613.

rs1441764656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:79351493 (GRCh38)
10:81111249 (GRCh37)
Canonical SPDI:: NC_000010.11:79351492:G:A
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.79351493G>A, NC_000010.10:g.81111249G>A, NM_005729.4:c.322G>A, NM_005729.3:c.322G>A, XM_005269379.3:c.322G>A, XM_005269379.2:c.322G>A, XM_005269379.1:c.322G>A, NP_005720.1:p.Asp108Asn, XP_005269436.1:p.Asp108Asn

Select item 143686085914.

rs1436860859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79347657 (GRCh38)
10:81107413 (GRCh37)
Canonical SPDI:: NC_000010.11:79347656:C:T
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.79347657C>T, NC_000010.10:g.81107413C>T, NM_005729.4:c.109C>T, NM_005729.3:c.109C>T, XM_005269379.3:c.109C>T, XM_005269379.2:c.109C>T, XM_005269379.1:c.109C>T, NP_005720.1:p.Pro37Ser, XP_005269436.1:p.Pro37Ser

Select item 143005931315.

rs1430059313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79353674 (GRCh38)
10:81113430 (GRCh37)
Canonical SPDI:: NC_000010.11:79353673:A:G
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
A=0.5/2 (SGDP_PRJ)
HGVS:: NC_000010.11:g.79353674A>G, NC_000010.10:g.81113430A>G, XM_005269379.3:c.518A>G, XM_005269379.2:c.518A>G, XM_005269379.1:c.518A>G, XP_005269436.1:p.His173Arg

Select item 142876046116.

rs1428760461 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:79349712 (GRCh38)
10:81109468 (GRCh37)
Canonical SPDI:: NC_000010.11:79349711:GG:G
Gene:: PPIF (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.79349713del, NC_000010.10:g.81109469del, NM_005729.4:c.275del, NM_005729.3:c.275del, XM_005269379.3:c.275del, XM_005269379.2:c.275del, XM_005269379.1:c.275del, NP_005720.1:p.Gly92fs, XP_005269436.1:p.Gly92fs

Select item 142791548917.

rs1427915489 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79347643 (GRCh38)
10:81107399 (GRCh37)
Canonical SPDI:: NC_000010.11:79347642:A:G
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.79347643A>G, NC_000010.10:g.81107399A>G, NM_005729.4:c.95A>G, NM_005729.3:c.95A>G, XM_005269379.3:c.95A>G, XM_005269379.2:c.95A>G, XM_005269379.1:c.95A>G, NP_005720.1:p.Lys32Arg, XP_005269436.1:p.Lys32Arg

Select item 142546940918.

rs1425469409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:79349685 (GRCh38)
10:81109441 (GRCh37)
Canonical SPDI:: NC_000010.11:79349684:A:G
Gene:: PPIF (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.79349685A>G, NC_000010.10:g.81109441A>G, NM_005729.4:c.247A>G, NM_005729.3:c.247A>G, XM_005269379.3:c.247A>G, XM_005269379.2:c.247A>G, XM_005269379.1:c.247A>G, NP_005720.1:p.Thr83Ala, XP_005269436.1:p.Thr83Ala

Select item 142165534019.

rs1421655340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79347641 (GRCh38)
10:81107397 (GRCh37)
Canonical SPDI:: NC_000010.11:79347640:C:T
Gene:: PPIF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.79347641C>T, NC_000010.10:g.81107397C>T, NM_005729.4:c.93C>T, NM_005729.3:c.93C>T, XM_005269379.3:c.93C>T, XM_005269379.2:c.93C>T, XM_005269379.1:c.93C>T

Select item 141519085120.

rs1415190851 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:79347556 (GRCh38)
10:81107312 (GRCh37)
Canonical SPDI:: NC_000010.11:79347555:C:T
Gene:: PPIF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.79347556C>T, NC_000010.10:g.81107312C>T, NM_005729.4:c.8C>T, NM_005729.3:c.8C>T, XM_005269379.3:c.8C>T, XM_005269379.2:c.8C>T, XM_005269379.1:c.8C>T, NP_005720.1:p.Ala3Val, XP_005269436.1:p.Ala3Val

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