SNP Links for Protein (Select 156564407) - SNP

Links from Protein

Items: 1 to 20 of 1045

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Select item 14901147041.

rs1490114704 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4816705 (GRCh38)
17:4720000 (GRCh37)
Canonical SPDI:: NC_000017.11:4816704:T:C
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4816705T>C, NC_000017.10:g.4720000T>C, NG_029608.1:g.14605T>C, NM_002663.5:c.1541T>C, NM_002663.4:c.1541T>C, NM_001243108.2:c.1541T>C, NM_001243108.1:c.1541T>C, XM_047436300.1:c.1181T>C, XM_047436301.1:c.1541T>C, NP_002654.3:p.Leu514Pro, NP_001230037.1:p.Leu514Pro, XP_047292256.1:p.Leu394Pro, XP_047292257.1:p.Leu514Pro

Select item 14889452332.

rs1488945233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:4808099 (GRCh38)
17:4711394 (GRCh37)
Canonical SPDI:: NC_000017.11:4808098:T:C
Gene:: PLD2 (Varview), C17orf114 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,intron_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4808099T>C, NC_000017.10:g.4711394T>C, NG_029608.1:g.5999T>C, NM_002663.5:c.225T>C, NM_002663.4:c.225T>C, NM_001243108.2:c.225T>C, NM_001243108.1:c.225T>C, XM_047436301.1:c.225T>C, XM_047436302.1:c.225T>C

Select item 14886216023.

rs1488621602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:4807787 (GRCh38)
17:4711082 (GRCh37)
Canonical SPDI:: NC_000017.11:4807786:T:A,NC_000017.11:4807786:T:C
Gene:: PLD2 (Varview), C17orf114 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002185/35 (ALFA)
A=0.000004/1 (TOPMED)
C=0.001092/2 (Korea1K)
C=0.002397/7 (KOREAN)
HGVS:: NC_000017.11:g.4807787T>A, NC_000017.11:g.4807787T>C, NC_000017.10:g.4711082T>A, NC_000017.10:g.4711082T>C, NG_029608.1:g.5687T>A, NG_029608.1:g.5687T>C, NM_002663.5:c.15T>A, NM_002663.5:c.15T>C, NM_002663.4:c.15T>A, NM_002663.4:c.15T>C, NM_001243108.2:c.15T>A, NM_001243108.2:c.15T>C, NM_001243108.1:c.15T>A, NM_001243108.1:c.15T>C, XM_047436301.1:c.15T>A, XM_047436301.1:c.15T>C, XM_047436302.1:c.15T>A, XM_047436302.1:c.15T>C

Select item 14885032284.

rs1488503228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4819461 (GRCh38)
17:4722756 (GRCh37)
Canonical SPDI:: NC_000017.11:4819460:G:A
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4819461G>A, NC_000017.10:g.4722756G>A, NG_029608.1:g.17361G>A, NM_002663.5:c.2341G>A, NM_002663.4:c.2341G>A, NM_001243108.2:c.2341G>A, NM_001243108.1:c.2341G>A, XM_047436300.1:c.1981G>A, NP_002654.3:p.Gly781Arg, NP_001230037.1:p.Gly781Arg, XP_047292256.1:p.Gly661Arg

Select item 14883954265.

rs1488395426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4810872 (GRCh38)
17:4714167 (GRCh37)
Canonical SPDI:: NC_000017.11:4810871:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4810872C>T, NC_000017.10:g.4714167C>T, NG_029608.1:g.8772C>T, NM_002663.5:c.931C>T, NM_002663.4:c.931C>T, NM_001243108.2:c.931C>T, NM_001243108.1:c.931C>T, XM_047436300.1:c.571C>T, XM_047436301.1:c.931C>T, XM_047436302.1:c.931C>T, NP_002654.3:p.Gln311Ter, NP_001230037.1:p.Gln311Ter, XP_047292256.1:p.Gln191Ter, XP_047292257.1:p.Gln311Ter, XP_047292258.1:p.Gln311Ter

Select item 14865145756.

rs1486514575 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4819520 (GRCh38)
17:4722815 (GRCh37)
Canonical SPDI:: NC_000017.11:4819519:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.4819520C>T, NC_000017.10:g.4722815C>T, NG_029608.1:g.17420C>T, NM_002663.5:c.2400C>T, NM_002663.4:c.2400C>T, NM_001243108.2:c.2400C>T, NM_001243108.1:c.2400C>T, XM_047436300.1:c.2040C>T

Select item 14863077247.

rs1486307724 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4809150 (GRCh38)
17:4712445 (GRCh37)
Canonical SPDI:: NC_000017.11:4809149:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4809150C>T, NC_000017.10:g.4712445C>T, NG_029608.1:g.7050C>T, NM_002663.5:c.434C>T, NM_002663.4:c.434C>T, NM_001243108.2:c.434C>T, NM_001243108.1:c.434C>T, XM_047436300.1:c.74C>T, XM_047436301.1:c.434C>T, XM_047436302.1:c.434C>T, NP_002654.3:p.Pro145Leu, NP_001230037.1:p.Pro145Leu, XP_047292256.1:p.Pro25Leu, XP_047292257.1:p.Pro145Leu, XP_047292258.1:p.Pro145Leu

Select item 14861574358.

rs1486157435 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:4816994 (GRCh38)
17:4720289 (GRCh37)
Canonical SPDI:: NC_000017.11:4816993:T:A
Gene:: PLD2 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4816994T>A, NC_000017.10:g.4720289T>A, NG_029608.1:g.14894T>A, NM_002663.5:c.1640T>A, NM_002663.4:c.1640T>A, NM_001243108.2:c.1640T>A, NM_001243108.1:c.1640T>A, XM_047436300.1:c.1280T>A, NP_002654.3:p.Val547Asp, NP_001230037.1:p.Val547Asp, XP_047292256.1:p.Val427Asp

Select item 14851073669.

rs1485107366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4821827 (GRCh38)
17:4725122 (GRCh37)
Canonical SPDI:: NC_000017.11:4821826:G:T
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4821827G>T, NC_000017.10:g.4725122G>T, NG_029608.1:g.19727G>T, NM_002663.5:c.2497G>T, NM_002663.4:c.2497G>T, NM_001243108.2:c.2464G>T, NM_001243108.1:c.2464G>T, XM_047436300.1:c.2137G>T, NP_002654.3:p.Asp833Tyr, NP_001230037.1:p.Asp822Tyr, XP_047292256.1:p.Asp713Tyr

Select item 148471153110.

rs1484711531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:4818495 (GRCh38)
17:4721790 (GRCh37)
Canonical SPDI:: NC_000017.11:4818494:C:G,NC_000017.11:4818494:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4818495C>G, NC_000017.11:g.4818495C>T, NC_000017.10:g.4721790C>G, NC_000017.10:g.4721790C>T, NG_029608.1:g.16395C>G, NG_029608.1:g.16395C>T, NM_002663.5:c.2011C>G, NM_002663.5:c.2011C>T, NM_002663.4:c.2011C>G, NM_002663.4:c.2011C>T, NM_001243108.2:c.2011C>G, NM_001243108.2:c.2011C>T, NM_001243108.1:c.2011C>G, NM_001243108.1:c.2011C>T, XM_047436300.1:c.1651C>G, XM_047436300.1:c.1651C>T, XM_047436301.1:c.*48C>G, XM_047436301.1:c.*48C>T, NP_002654.3:p.Gln671Glu, NP_002654.3:p.Gln671Ter, NP_001230037.1:p.Gln671Glu, NP_001230037.1:p.Gln671Ter, XP_047292256.1:p.Gln551Glu, XP_047292256.1:p.Gln551Ter

Select item 148347106911.

rs1483471069 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:4816657 (GRCh38)
17:4719952 (GRCh37)
Canonical SPDI:: NC_000017.11:4816656:A:T
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.4816657A>T, NC_000017.10:g.4719952A>T, NG_029608.1:g.14557A>T, NM_002663.5:c.1493A>T, NM_002663.4:c.1493A>T, NM_001243108.2:c.1493A>T, NM_001243108.1:c.1493A>T, XM_047436300.1:c.1133A>T, XM_047436301.1:c.1493A>T, NP_002654.3:p.Asp498Val, NP_001230037.1:p.Asp498Val, XP_047292256.1:p.Asp378Val, XP_047292257.1:p.Asp498Val

Select item 148212123912.

rs1482121239 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:4809500 (GRCh38)
17:4712795 (GRCh37)
Canonical SPDI:: NC_000017.11:4809499:T:G
Gene:: PLD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.4809500T>G, NC_000017.10:g.4712795T>G, NG_029608.1:g.7400T>G, NM_002663.5:c.563T>G, NM_002663.4:c.563T>G, NM_001243108.2:c.563T>G, NM_001243108.1:c.563T>G, XM_047436300.1:c.203T>G, XM_047436301.1:c.563T>G, XM_047436302.1:c.563T>G, NP_002654.3:p.Phe188Cys, NP_001230037.1:p.Phe188Cys, XP_047292256.1:p.Phe68Cys, XP_047292257.1:p.Phe188Cys, XP_047292258.1:p.Phe188Cys

Select item 148196791613.

rs1481967916 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4818016 (GRCh38)
17:4721311 (GRCh37)
Canonical SPDI:: NC_000017.11:4818015:G:A
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,stop_gained
HGVS:: NC_000017.11:g.4818016G>A, NC_000017.10:g.4721311G>A, NG_029608.1:g.15916G>A, NM_002663.5:c.1830G>A, NM_002663.4:c.1830G>A, NM_001243108.2:c.1830G>A, NM_001243108.1:c.1830G>A, XM_047436300.1:c.1470G>A, XM_047436301.1:c.1781G>A, XP_047292257.1:p.Trp594Ter

Select item 147975436014.

rs1479754360 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 17:4807774 (GRCh38)
17:4711070 (GRCh37)
Canonical SPDI:: NC_000017.11:4807774:GA:GAGA
Gene:: PLD2 (Varview), C17orf114 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,initiator_codon_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GA=0.000025/3 (GnomAD)
HGVS:: NC_000017.11:g.4807775_4807776dup, NC_000017.10:g.4711070_4711071dup, NG_029608.1:g.5675_5676dup, NM_002663.5:c.3_4dup, NM_002663.4:c.3_4dup, NM_001243108.2:c.3_4dup, NM_001243108.1:c.3_4dup, XM_047436301.1:c.3_4dup, XM_047436302.1:c.3_4dup, NP_002654.3:p.Thr2fs, NP_001230037.1:p.Thr2fs, XP_047292257.1:p.Thr2fs, XP_047292258.1:p.Thr2fs

Select item 147764148615.

rs1477641486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4809737 (GRCh38)
17:4713032 (GRCh37)
Canonical SPDI:: NC_000017.11:4809736:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4809737C>T, NC_000017.10:g.4713032C>T, NG_029608.1:g.7637C>T, NM_002663.5:c.661C>T, NM_002663.4:c.661C>T, NM_001243108.2:c.661C>T, NM_001243108.1:c.661C>T, XM_047436300.1:c.301C>T, XM_047436301.1:c.661C>T, XM_047436302.1:c.661C>T, NP_002654.3:p.Leu221Phe, NP_001230037.1:p.Leu221Phe, XP_047292256.1:p.Leu101Phe, XP_047292257.1:p.Leu221Phe, XP_047292258.1:p.Leu221Phe

Select item 147745084216.

rs1477450842 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:4809167 (GRCh38)
17:4712462 (GRCh37)
Canonical SPDI:: NC_000017.11:4809166:G:T
Gene:: PLD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.4809167G>T, NC_000017.10:g.4712462G>T, NG_029608.1:g.7067G>T, NM_002663.5:c.451G>T, NM_002663.4:c.451G>T, NM_001243108.2:c.451G>T, NM_001243108.1:c.451G>T, XM_047436300.1:c.91G>T, XM_047436301.1:c.451G>T, XM_047436302.1:c.451G>T, NP_002654.3:p.Gly151Cys, NP_001230037.1:p.Gly151Cys, XP_047292256.1:p.Gly31Cys, XP_047292257.1:p.Gly151Cys, XP_047292258.1:p.Gly151Cys

Select item 147710851217.

rs1477108512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4818055 (GRCh38)
17:4721350 (GRCh37)
Canonical SPDI:: NC_000017.11:4818054:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_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_000017.11:g.4818055C>T, NC_000017.10:g.4721350C>T, NG_029608.1:g.15955C>T, NM_002663.5:c.1869C>T, NM_002663.4:c.1869C>T, NM_001243108.2:c.1869C>T, NM_001243108.1:c.1869C>T, XM_047436300.1:c.1509C>T, XM_047436301.1:c.1820C>T, XP_047292257.1:p.Ser607Leu

Select item 147705105318.

rs1477051053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:4808359 (GRCh38)
17:4711654 (GRCh37)
Canonical SPDI:: NC_000017.11:4808358:A:G,NC_000017.11:4808358:A:T
Gene:: PLD2 (Varview), C17orf114 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4808359A>G, NC_000017.11:g.4808359A>T, NC_000017.10:g.4711654A>G, NC_000017.10:g.4711654A>T, NG_029608.1:g.6259A>G, NG_029608.1:g.6259A>T, NM_002663.5:c.326A>G, NM_002663.5:c.326A>T, NM_002663.4:c.326A>G, NM_002663.4:c.326A>T, NM_001243108.2:c.326A>G, NM_001243108.2:c.326A>T, NM_001243108.1:c.326A>G, NM_001243108.1:c.326A>T, XM_047436300.1:c.-35A>G, XM_047436300.1:c.-35A>T, XM_047436301.1:c.326A>G, XM_047436301.1:c.326A>T, XM_047436302.1:c.326A>G, XM_047436302.1:c.326A>T, NP_002654.3:p.Glu109Gly, NP_002654.3:p.Glu109Val, NP_001230037.1:p.Glu109Gly, NP_001230037.1:p.Glu109Val, XP_047292257.1:p.Glu109Gly, XP_047292257.1:p.Glu109Val, XP_047292258.1:p.Glu109Gly, XP_047292258.1:p.Glu109Val

Select item 147549741319.

rs1475497413 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:4817163 (GRCh38)
17:4720458 (GRCh37)
Canonical SPDI:: NC_000017.11:4817162:C:T
Gene:: PLD2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.4817163C>T, NC_000017.10:g.4720458C>T, NG_029608.1:g.15063C>T, NM_002663.5:c.1719C>T, NM_002663.4:c.1719C>T, NM_001243108.2:c.1719C>T, NM_001243108.1:c.1719C>T, XM_047436300.1:c.1359C>T, XM_047436301.1:c.1670C>T, XP_047292257.1:p.Thr557Ile

Select item 147540985820.

rs1475409858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:4815817 (GRCh38)
17:4719112 (GRCh37)
Canonical SPDI:: NC_000017.11:4815816:G:A
Gene:: PLD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.4815817G>A, NC_000017.10:g.4719112G>A, NG_029608.1:g.13717G>A, NM_002663.5:c.1338G>A, NM_002663.4:c.1338G>A, NM_001243108.2:c.1338G>A, NM_001243108.1:c.1338G>A, XM_047436300.1:c.978G>A, XM_047436301.1:c.1338G>A, XM_047436302.1:c.1338G>A

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dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

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