SNP Links for Protein (Select 19923817) - SNP

Links from Protein

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Select item 14877397811.

rs1487739781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:216039311 (GRCh38)
2:216904034 (GRCh37)
Canonical SPDI:: NC_000002.12:216039310:C:T
Gene:: PECR (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216039311C>T, NC_000002.11:g.216904034C>T, NM_018441.6:c.876G>A, NM_018441.5:c.876G>A, XR_001738847.3:n.944G>A, XR_001738847.2:n.935G>A, XR_001738847.1:n.956G>A, XR_007078552.1:n.944G>A, XR_007078553.1:n.944G>A, XM_047445108.1:c.438G>A

Select item 14845803102.

rs1484580310 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:216049360 (GRCh38)
2:216914083 (GRCh37)
Canonical SPDI:: NC_000002.12:216049359:G:C
Gene:: PECR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216049360G>C, NC_000002.11:g.216914083G>C, NM_018441.6:c.617C>G, NM_018441.5:c.617C>G, XR_001738847.3:n.685C>G, XR_001738847.2:n.676C>G, XR_001738847.1:n.697C>G, XR_007078552.1:n.685C>G, XR_007078553.1:n.685C>G, XM_047445108.1:c.179C>G, NP_060911.2:p.Ser206Cys, XP_047301064.1:p.Ser60Cys

Select item 14825801293.

rs1482580129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:216043970 (GRCh38)
2:216908693 (GRCh37)
Canonical SPDI:: NC_000002.12:216043969:T:C
Gene:: PECR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.216043970T>C, NC_000002.11:g.216908693T>C, NM_018441.6:c.760A>G, NM_018441.5:c.760A>G, XR_001738847.3:n.828A>G, XR_001738847.2:n.819A>G, XR_001738847.1:n.840A>G, XR_007078552.1:n.828A>G, XR_007078553.1:n.828A>G, XM_047445108.1:c.322A>G, NP_060911.2:p.Ile254Val, XP_047301064.1:p.Ile108Val

Select item 14741261104.

rs1474126110 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGC>- [Show Flanks]
Chromosome:: 2:216058951 (GRCh38)
2:216923674 (GRCh37)
Canonical SPDI:: NC_000002.12:216058949:CATGC:C
Gene:: PECR (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.216058951_216058954del, NC_000002.11:g.216923674_216923677del, NM_018441.6:c.448_451del, NM_018441.5:c.448_451del, XR_001738847.3:n.516_519del, XR_001738847.2:n.507_510del, XR_001738847.1:n.528_531del, XR_007078552.1:n.516_519del, XR_007078553.1:n.516_519del, XM_047445108.1:c.10_13del, XM_047445106.1:c.*37_*40del, NP_060911.2:p.His150fs, XP_047301064.1:p.His4fs

Select item 14722274305.

rs1472227430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:216065326 (GRCh38)
2:216930049 (GRCh37)
Canonical SPDI:: NC_000002.12:216065325:T:C
Gene:: PECR (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.216065326T>C, NC_000002.11:g.216930049T>C, NM_018441.6:c.410A>G, NM_018441.5:c.410A>G, XR_001738847.3:n.478A>G, XR_001738847.2:n.469A>G, XR_001738847.1:n.490A>G, XR_007078552.1:n.478A>G, XR_007078553.1:n.478A>G, XM_047445106.1:c.467A>G, XM_047445107.1:c.467A>G, NP_060911.2:p.Tyr137Cys, XP_047301062.1:p.Tyr156Cys, XP_047301063.1:p.Tyr156Cys

Select item 14644562676.

rs1464456267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:216058927 (GRCh38)
2:216923650 (GRCh37)
Canonical SPDI:: NC_000002.12:216058926:A:G
Gene:: PECR (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216058927A>G, NC_000002.11:g.216923650A>G, NM_018441.6:c.474T>C, NM_018441.5:c.474T>C, XR_001738847.3:n.542T>C, XR_001738847.2:n.533T>C, XR_001738847.1:n.554T>C, XR_007078552.1:n.542T>C, XR_007078553.1:n.542T>C, XM_047445108.1:c.36T>C, XM_047445106.1:c.*63T>C

Select item 14621474457.

rs1462147445 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:216049302 (GRCh38)
2:216914025 (GRCh37)
Canonical SPDI:: NC_000002.12:216049301:AAAA:AAA
Gene:: PECR (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.216049305del, NC_000002.11:g.216914028del, NM_018441.6:c.675del, NM_018441.5:c.675del, XR_001738847.3:n.743del, XR_001738847.2:n.734del, XR_001738847.1:n.755del, XR_007078552.1:n.743del, XR_007078553.1:n.743del, XM_047445108.1:c.237del, NP_060911.2:p.Gln226fs, XP_047301064.1:p.Gln80fs

Select item 14579286038.

rs1457928603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:216065420 (GRCh38)
2:216930143 (GRCh37)
Canonical SPDI:: NC_000002.12:216065419:T:C
Gene:: PECR (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216065420T>C, NC_000002.11:g.216930143T>C, NM_018441.6:c.316A>G, NM_018441.5:c.316A>G, XR_001738847.3:n.384A>G, XR_001738847.2:n.375A>G, XR_001738847.1:n.396A>G, XR_007078552.1:n.384A>G, XR_007078553.1:n.384A>G, XM_047445106.1:c.373A>G, XM_047445107.1:c.373A>G, NP_060911.2:p.Asn106Asp, XP_047301062.1:p.Asn125Asp, XP_047301063.1:p.Asn125Asp

Select item 14572062209.

rs1457206220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:216058930 (GRCh38)
2:216923653 (GRCh37)
Canonical SPDI:: NC_000002.12:216058929:G:A
Gene:: PECR (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.216058930G>A, NC_000002.11:g.216923653G>A, NM_018441.6:c.471C>T, NM_018441.5:c.471C>T, XR_001738847.3:n.539C>T, XR_001738847.2:n.530C>T, XR_001738847.1:n.551C>T, XR_007078552.1:n.539C>T, XR_007078553.1:n.539C>T, XM_047445108.1:c.33C>T, XM_047445106.1:c.*60C>T

Select item 145623312010.

rs1456233120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:216039350 (GRCh38)
2:216904073 (GRCh37)
Canonical SPDI:: NC_000002.12:216039349:G:C
Gene:: PECR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216039350G>C, NC_000002.11:g.216904073G>C, NM_018441.6:c.837C>G, NM_018441.5:c.837C>G, XR_001738847.3:n.905C>G, XR_001738847.2:n.896C>G, XR_001738847.1:n.917C>G, XR_007078552.1:n.905C>G, XR_007078553.1:n.905C>G, XM_047445108.1:c.399C>G, NP_060911.2:p.Asn279Lys, XP_047301064.1:p.Asn133Lys

Select item 145259678211.

rs1452596782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:216051503 (GRCh38)
2:216916226 (GRCh37)
Canonical SPDI:: NC_000002.12:216051502:T:C
Gene:: PECR (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216051503T>C, NC_000002.11:g.216916226T>C, NM_018441.6:c.549A>G, NM_018441.5:c.549A>G, XR_001738847.3:n.617A>G, XR_001738847.2:n.608A>G, XR_001738847.1:n.629A>G, XR_007078552.1:n.617A>G, XR_007078553.1:n.617A>G, XM_047445108.1:c.111A>G, XM_047445107.1:c.524A>G, XP_047301063.1:p.Asn175Ser

Select item 144837916312.

rs1448379163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:216081621 (GRCh38)
2:216946344 (GRCh37)
Canonical SPDI:: NC_000002.12:216081620:G:A
Gene:: PECR (Varview), TMEM169 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.216081621G>A, NC_000002.11:g.216946344G>A, NM_018441.6:c.121C>T, NM_018441.5:c.121C>T, XR_001738847.3:n.189C>T, XR_001738847.2:n.180C>T, XR_001738847.1:n.201C>T, XR_007078552.1:n.189C>T, XR_007078553.1:n.189C>T, XM_047445106.1:c.178C>T, XM_047445107.1:c.178C>T

Select item 144761263313.

rs1447612633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:216043911 (GRCh38)
2:216908634 (GRCh37)
Canonical SPDI:: NC_000002.12:216043910:C:T
Gene:: PECR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216043911C>T, NC_000002.11:g.216908634C>T, NM_018441.6:c.819G>A, NM_018441.5:c.819G>A, XR_001738847.3:n.887G>A, XR_001738847.2:n.878G>A, XR_001738847.1:n.899G>A, XR_007078552.1:n.887G>A, XR_007078553.1:n.887G>A, XM_047445108.1:c.381G>A

Select item 144053037014.

rs1440530370 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:216065364 (GRCh38)
2:216930087 (GRCh37)
Canonical SPDI:: NC_000002.12:216065363:C:G,NC_000002.12:216065363:C:T
Gene:: PECR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.216065364C>G, NC_000002.12:g.216065364C>T, NC_000002.11:g.216930087C>G, NC_000002.11:g.216930087C>T, NM_018441.6:c.372G>C, NM_018441.6:c.372G>A, NM_018441.5:c.372G>C, NM_018441.5:c.372G>A, XR_001738847.3:n.440G>C, XR_001738847.3:n.440G>A, XR_001738847.2:n.431G>C, XR_001738847.2:n.431G>A, XR_001738847.1:n.452G>C, XR_001738847.1:n.452G>A, XR_007078552.1:n.440G>C, XR_007078552.1:n.440G>A, XR_007078553.1:n.440G>C, XR_007078553.1:n.440G>A, XM_047445106.1:c.429G>C, XM_047445106.1:c.429G>A, XM_047445107.1:c.429G>C, XM_047445107.1:c.429G>A, NP_060911.2:p.Trp124Cys, NP_060911.2:p.Trp124Ter, XP_047301062.1:p.Trp143Cys, XP_047301062.1:p.Trp143Ter, XP_047301063.1:p.Trp143Cys, XP_047301063.1:p.Trp143Ter

Select item 143706066915.

rs1437060669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:216065331 (GRCh38)
2:216930054 (GRCh37)
Canonical SPDI:: NC_000002.12:216065330:G:A,NC_000002.12:216065330:G:C
Gene:: PECR (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.216065331G>A, NC_000002.12:g.216065331G>C, NC_000002.11:g.216930054G>A, NC_000002.11:g.216930054G>C, NM_018441.6:c.405C>T, NM_018441.6:c.405C>G, NM_018441.5:c.405C>T, NM_018441.5:c.405C>G, XR_001738847.3:n.473C>T, XR_001738847.3:n.473C>G, XR_001738847.2:n.464C>T, XR_001738847.2:n.464C>G, XR_001738847.1:n.485C>T, XR_001738847.1:n.485C>G, XR_007078552.1:n.473C>T, XR_007078552.1:n.473C>G, XR_007078553.1:n.473C>T, XR_007078553.1:n.473C>G, XM_047445106.1:c.462C>T, XM_047445106.1:c.462C>G, XM_047445107.1:c.462C>T, XM_047445107.1:c.462C>G

Select item 143409874316.

rs1434098743 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:216066417 (GRCh38)
2:216931140 (GRCh37)
Canonical SPDI:: NC_000002.12:216066416:G:T
Gene:: PECR (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.216066417G>T, NC_000002.11:g.216931140G>T, NM_018441.6:c.226C>A, NM_018441.5:c.226C>A, XR_001738847.3:n.294C>A, XR_001738847.2:n.285C>A, XR_001738847.1:n.306C>A, XR_007078552.1:n.294C>A, XR_007078553.1:n.294C>A, XM_047445106.1:c.283C>A, XM_047445107.1:c.283C>A, NP_060911.2:p.Pro76Thr, XP_047301062.1:p.Pro95Thr, XP_047301063.1:p.Pro95Thr

Select item 143208666717.

rs1432086667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:216058964 (GRCh38)
2:216923687 (GRCh37)
Canonical SPDI:: NC_000002.12:216058963:C:A
Gene:: PECR (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216058964C>A, NC_000002.11:g.216923687C>A, NM_018441.6:c.437G>T, NM_018441.5:c.437G>T, XR_001738847.3:n.505G>T, XR_001738847.2:n.496G>T, XR_001738847.1:n.517G>T, XR_007078552.1:n.505G>T, XR_007078553.1:n.505G>T, XM_047445108.1:c.-2G>T, XM_047445106.1:c.*26G>T, NP_060911.2:p.Trp146Leu

Select item 142944106218.

rs1429441062 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:216058900 (GRCh38)
2:216923623 (GRCh37)
Canonical SPDI:: NC_000002.12:216058899:T:A
Gene:: PECR (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.216058900T>A, NC_000002.11:g.216923623T>A, NM_018441.6:c.501A>T, NM_018441.5:c.501A>T, XR_001738847.3:n.569A>T, XR_001738847.2:n.560A>T, XR_001738847.1:n.581A>T, XR_007078552.1:n.569A>T, XR_007078553.1:n.569A>T, XM_047445108.1:c.63A>T, XM_047445106.1:c.*90A>T, NP_060911.2:p.Leu167Phe, XP_047301064.1:p.Leu21Phe

Select item 141801972019.

rs1418019720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:216081725 (GRCh38)
2:216946448 (GRCh37)
Canonical SPDI:: NC_000002.12:216081724:T:C
Gene:: PECR (Varview), TMEM169 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000002.12:g.216081725T>C, NC_000002.11:g.216946448T>C, NM_018441.6:c.17A>G, NM_018441.5:c.17A>G, XR_001738847.3:n.85A>G, XR_001738847.2:n.76A>G, XR_001738847.1:n.97A>G, XR_007078552.1:n.85A>G, XR_007078553.1:n.85A>G, XM_047445106.1:c.74A>G, XM_047445107.1:c.74A>G, NP_060911.2:p.Lys6Arg, XP_047301062.1:p.Lys25Arg, XP_047301063.1:p.Lys25Arg

Select item 141731587920.

rs1417315879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:216049338 (GRCh38)
2:216914061 (GRCh37)
Canonical SPDI:: NC_000002.12:216049337:A:G
Gene:: PECR (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.216049338A>G, NC_000002.11:g.216914061A>G, NM_018441.6:c.639T>C, NM_018441.5:c.639T>C, XR_001738847.3:n.707T>C, XR_001738847.2:n.698T>C, XR_001738847.1:n.719T>C, XR_007078552.1:n.707T>C, XR_007078553.1:n.707T>C, XM_047445108.1:c.201T>C

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