SNP Links for Protein (Select 41152506) - SNP

Links from Protein

Items: 1 to 20 of 900

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Select item 14912473421.

rs1491247342 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:116945087 (GRCh38)
1:117487709 (GRCh37)
Canonical SPDI:: NC_000001.11:116945086:CA:
Gene:: PTGFRN (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000111/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/1 (ExAC)
-=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116945087_116945088del, NC_000001.10:g.117487709_117487710del, NM_020440.4:c.827_828del, NM_020440.3:c.827_828del, NM_020440.2:c.827_828del, XM_017001874.2:c.845_846del, XM_017001874.1:c.845_846del, NP_065173.2:p.Pro276fs, XP_016857363.1:p.Pro282fs

Select item 14907891122.

rs1490789112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116910208 (GRCh38)
1:117452830 (GRCh37)
Canonical SPDI:: NC_000001.11:116910207:G:A
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.116910208G>A, NC_000001.10:g.117452830G>A, NM_020440.4:c.5G>A, NM_020440.3:c.5G>A, NM_020440.2:c.5G>A, NP_065173.2:p.Gly2Glu

Select item 14879342053.

rs1487934205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116967225 (GRCh38)
1:117509847 (GRCh37)
Canonical SPDI:: NC_000001.11:116967224:C:T
Gene:: PTGFRN (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=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.116967225C>T, NC_000001.10:g.117509847C>T, NM_020440.4:c.1954C>T, NM_020440.3:c.1954C>T, NM_020440.2:c.1954C>T, XM_017001874.2:c.1972C>T, XM_017001874.1:c.1972C>T

Select item 14865665234.

rs1486566523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116942073 (GRCh38)
1:117484695 (GRCh37)
Canonical SPDI:: NC_000001.11:116942072:G:A
Gene:: PTGFRN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.116942073G>A, NC_000001.10:g.117484695G>A, NM_020440.4:c.408G>A, NM_020440.3:c.408G>A, NM_020440.2:c.408G>A, XM_017001874.2:c.426G>A, XM_017001874.1:c.426G>A

Select item 14849585115.

rs1484958511 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116941717 (GRCh38)
1:117484339 (GRCh37)
Canonical SPDI:: NC_000001.11:116941716:C:T
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.116941717C>T, NC_000001.10:g.117484339C>T, NM_020440.4:c.52C>T, NM_020440.3:c.52C>T, NM_020440.2:c.52C>T, XM_017001874.2:c.70C>T, XM_017001874.1:c.70C>T, NP_065173.2:p.Leu18Phe, XP_016857363.1:p.Leu24Phe

Select item 14837791106.

rs1483779110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:116944918 (GRCh38)
1:117487540 (GRCh37)
Canonical SPDI:: NC_000001.11:116944917:G:A,NC_000001.11:116944917:G:T
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116944918G>A, NC_000001.11:g.116944918G>T, NC_000001.10:g.117487540G>A, NC_000001.10:g.117487540G>T, NM_020440.4:c.658G>A, NM_020440.4:c.658G>T, NM_020440.3:c.658G>A, NM_020440.3:c.658G>T, NM_020440.2:c.658G>A, NM_020440.2:c.658G>T, XM_017001874.2:c.676G>A, XM_017001874.2:c.676G>T, XM_017001874.1:c.676G>A, XM_017001874.1:c.676G>T, NP_065173.2:p.Val220Met, NP_065173.2:p.Val220Leu, XP_016857363.1:p.Val226Met, XP_016857363.1:p.Val226Leu

Select item 14834050247.

rs1483405024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116949291 (GRCh38)
1:117491913 (GRCh37)
Canonical SPDI:: NC_000001.11:116949290:C:T
Gene:: PTGFRN (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_000001.11:g.116949291C>T, NC_000001.10:g.117491913C>T, NM_020440.4:c.932C>T, NM_020440.3:c.932C>T, NM_020440.2:c.932C>T, XM_017001874.2:c.950C>T, XM_017001874.1:c.950C>T, NP_065173.2:p.Pro311Leu, XP_016857363.1:p.Pro317Leu

Select item 14832615478.

rs1483261547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116944756 (GRCh38)
1:117487378 (GRCh37)
Canonical SPDI:: NC_000001.11:116944755:G:A
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.116944756G>A, NC_000001.10:g.117487378G>A, NM_020440.4:c.496G>A, NM_020440.3:c.496G>A, NM_020440.2:c.496G>A, XM_017001874.2:c.514G>A, XM_017001874.1:c.514G>A, NP_065173.2:p.Glu166Lys, XP_016857363.1:p.Glu172Lys

Select item 14827552449.

rs1482755244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116961517 (GRCh38)
1:117504139 (GRCh37)
Canonical SPDI:: NC_000001.11:116961516:C:T
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116961517C>T, NC_000001.10:g.117504139C>T, NM_020440.4:c.1488C>T, NM_020440.3:c.1488C>T, NM_020440.2:c.1488C>T, XM_017001874.2:c.1506C>T, XM_017001874.1:c.1506C>T

Select item 148048483510.

rs1480484835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116941896 (GRCh38)
1:117484518 (GRCh37)
Canonical SPDI:: NC_000001.11:116941895:G:A
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116941896G>A, NC_000001.10:g.117484518G>A, NM_020440.4:c.231G>A, NM_020440.3:c.231G>A, NM_020440.2:c.231G>A, XM_017001874.2:c.249G>A, XM_017001874.1:c.249G>A

Select item 147943031611.

rs1479430316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116984894 (GRCh38)
1:117527516 (GRCh37)
Canonical SPDI:: NC_000001.11:116984893:C:T
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.116984894C>T, NC_000001.10:g.117527516C>T, NM_020440.4:c.2382C>T, NM_020440.3:c.2382C>T, NM_020440.2:c.2382C>T, XM_017001874.2:c.2400C>T, XM_017001874.1:c.2400C>T

Select item 147910791812.

rs1479107918 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:116949294 (GRCh38)
1:117491916 (GRCh37)
Canonical SPDI:: NC_000001.11:116949293:A:C
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116949294A>C, NC_000001.10:g.117491916A>C, NM_020440.4:c.935A>C, NM_020440.3:c.935A>C, NM_020440.2:c.935A>C, XM_017001874.2:c.953A>C, XM_017001874.1:c.953A>C, NP_065173.2:p.Glu312Ala, XP_016857363.1:p.Glu318Ala

Select item 147713252613.

rs1477132526 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:116967179 (GRCh38)
1:117509801 (GRCh37)
Canonical SPDI:: NC_000001.11:116967178:T:C
Gene:: PTGFRN (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.116967179T>C, NC_000001.10:g.117509801T>C, NM_020440.4:c.1908T>C, NM_020440.3:c.1908T>C, NM_020440.2:c.1908T>C, XM_017001874.2:c.1926T>C, XM_017001874.1:c.1926T>C

Select item 147567352714.

rs1475673527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116944976 (GRCh38)
1:117487598 (GRCh37)
Canonical SPDI:: NC_000001.11:116944975:C:T
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.116944976C>T, NC_000001.10:g.117487598C>T, NM_020440.4:c.716C>T, NM_020440.3:c.716C>T, NM_020440.2:c.716C>T, XM_017001874.2:c.734C>T, XM_017001874.1:c.734C>T, NP_065173.2:p.Ser239Phe, XP_016857363.1:p.Ser245Phe

Select item 147517637015.

rs1475176370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:116941754 (GRCh38)
1:117484376 (GRCh37)
Canonical SPDI:: NC_000001.11:116941753:C:T
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/1 (ALFA)
HGVS:: NC_000001.11:g.116941754C>T, NC_000001.10:g.117484376C>T, NM_020440.4:c.89C>T, NM_020440.3:c.89C>T, NM_020440.2:c.89C>T, XM_017001874.2:c.107C>T, XM_017001874.1:c.107C>T, NP_065173.2:p.Thr30Ile, XP_016857363.1:p.Thr36Ile

Select item 147452222016.

rs1474522220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:116944771 (GRCh38)
1:117487393 (GRCh37)
Canonical SPDI:: NC_000001.11:116944770:G:A
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.116944771G>A, NC_000001.10:g.117487393G>A, NM_020440.4:c.511G>A, NM_020440.3:c.511G>A, NM_020440.2:c.511G>A, XM_017001874.2:c.529G>A, XM_017001874.1:c.529G>A, NP_065173.2:p.Ala171Thr, XP_016857363.1:p.Ala177Thr

Select item 147346381817.

rs1473463818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:116949396 (GRCh38)
1:117492018 (GRCh37)
Canonical SPDI:: NC_000001.11:116949395:T:G
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000001.11:g.116949396T>G, NC_000001.10:g.117492018T>G, NM_020440.4:c.1037T>G, NM_020440.3:c.1037T>G, NM_020440.2:c.1037T>G, XM_017001874.2:c.1055T>G, XM_017001874.1:c.1055T>G, NP_065173.2:p.Val346Gly, XP_016857363.1:p.Val352Gly

Select item 147299270818.

rs1472992708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:116949243 (GRCh38)
1:117491865 (GRCh37)
Canonical SPDI:: NC_000001.11:116949242:T:C
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.116949243T>C, NC_000001.10:g.117491865T>C, NM_020440.4:c.884T>C, NM_020440.3:c.884T>C, NM_020440.2:c.884T>C, XM_017001874.2:c.902T>C, XM_017001874.1:c.902T>C, NP_065173.2:p.Leu295Pro, XP_016857363.1:p.Leu301Pro

Select item 147256317319.

rs1472563173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:116910226 (GRCh38)
1:117452848 (GRCh37)
Canonical SPDI:: NC_000001.11:116910225:C:A,NC_000001.11:116910225:C:G,NC_000001.11:116910225:C:T
Gene:: PTGFRN (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00003/2 (GnomAD_exomes)
T=0.00046/1 (ExAC)
HGVS:: NC_000001.11:g.116910226C>A, NC_000001.11:g.116910226C>G, NC_000001.11:g.116910226C>T, NC_000001.10:g.117452848C>A, NC_000001.10:g.117452848C>G, NC_000001.10:g.117452848C>T, NM_020440.4:c.23C>A, NM_020440.4:c.23C>G, NM_020440.4:c.23C>T, NM_020440.3:c.23C>A, NM_020440.3:c.23C>G, NM_020440.3:c.23C>T, NM_020440.2:c.23C>A, NM_020440.2:c.23C>G, NM_020440.2:c.23C>T, NP_065173.2:p.Pro8Gln, NP_065173.2:p.Pro8Arg, NP_065173.2:p.Pro8Leu

Select item 147177327420.

rs1471773274 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 1:116949507 (GRCh38)
1:117492129 (GRCh37)
Canonical SPDI:: NC_000001.11:116949506:A:C,NC_000001.11:116949506:A:T
Gene:: PTGFRN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.116949507A>C, NC_000001.11:g.116949507A>T, NC_000001.10:g.117492129A>C, NC_000001.10:g.117492129A>T, NM_020440.4:c.1148A>C, NM_020440.4:c.1148A>T, NM_020440.3:c.1148A>C, NM_020440.3:c.1148A>T, NM_020440.2:c.1148A>C, NM_020440.2:c.1148A>T, XM_017001874.2:c.1166A>C, XM_017001874.2:c.1166A>T, XM_017001874.1:c.1166A>C, XM_017001874.1:c.1166A>T, NP_065173.2:p.Asn383Thr, NP_065173.2:p.Asn383Ile, XP_016857363.1:p.Asn389Thr, XP_016857363.1:p.Asn389Ile

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