SNP Links for Protein (Select 755571564) - SNP

Links from Protein

Items: 1 to 20 of 640

<< First< Prev

Page of 32

Next >Last >>

Select item 14899645711.

rs1489964571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58461537 (GRCh38)
20:57036593 (GRCh37)
Canonical SPDI:: NC_000020.11:58461536:G:A
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000020.11:g.58461537G>A, NC_000020.10:g.57036593G>A, NM_153360.3:c.759C>T, NM_153360.2:c.759C>T, NM_153360.1:c.759C>T, NM_001304787.2:c.792C>T, NM_001304787.1:c.792C>T

Select item 14885025242.

rs1488502524 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGCTGCACGCGG [Show Flanks]
Chromosome:: 20:58467234 (GRCh38)
20:57042291 (GRCh37)
Canonical SPDI:: NC_000020.11:58467234:GCGGCGCTGCACGCGG:GCGGCGCTGCACGCGGCGCTGCACGCGG
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGCTGCACGCGGCGCTGCACGCGG=0./0 (ALFA)
GCGGCGCTGCAC=0.000011/3 (TOPMED)
GCGGCGCTGCAC=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.58467239_58467250dup, NC_000020.10:g.57042295_57042306dup, NM_153360.3:c.601_612dup, NM_153360.2:c.601_612dup, NM_153360.1:c.601_612dup, NM_001304787.2:c.634_645dup, NM_001304787.1:c.634_645dup, NP_699191.1:p.Val201_Arg204dup, NP_001291716.1:p.Val212_Arg215dup

Select item 14882117403.

rs1488211740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58470614 (GRCh38)
20:57045670 (GRCh37)
Canonical SPDI:: NC_000020.11:58470613:G:A
Gene:: APCDD1L (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000020.11:g.58470614G>A, NC_000020.10:g.57045670G>A, NM_153360.3:c.183C>T, NM_153360.2:c.183C>T, NM_153360.1:c.183C>T, NM_001304787.2:c.216C>T, NM_001304787.1:c.216C>T, NR_130908.2:n.875C>T, NR_130908.1:n.414C>T

Select item 14881793154.

rs1488179315 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58467444 (GRCh38)
20:57042500 (GRCh37)
Canonical SPDI:: NC_000020.11:58467443:C:T
Gene:: APCDD1L (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 (TOPMED)
HGVS:: NC_000020.11:g.58467444C>T, NC_000020.10:g.57042500C>T, NM_153360.3:c.403G>A, NM_153360.2:c.403G>A, NM_153360.1:c.403G>A, NM_001304787.2:c.436G>A, NM_001304787.1:c.436G>A, NP_699191.1:p.Val135Ile, NP_001291716.1:p.Val146Ile

Select item 14820977935.

rs1482097793 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 20:58467647 (GRCh38)
20:57042703 (GRCh37)
Canonical SPDI:: NC_000020.11:58467646:C:A,NC_000020.11:58467646:C:G,NC_000020.11:58467646:C:T
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000020.11:g.58467647C>A, NC_000020.11:g.58467647C>G, NC_000020.11:g.58467647C>T, NC_000020.10:g.57042703C>A, NC_000020.10:g.57042703C>G, NC_000020.10:g.57042703C>T, NM_153360.3:c.200G>T, NM_153360.3:c.200G>C, NM_153360.3:c.200G>A, NM_153360.2:c.200G>T, NM_153360.2:c.200G>C, NM_153360.2:c.200G>A, NM_153360.1:c.200G>T, NM_153360.1:c.200G>C, NM_153360.1:c.200G>A, NM_001304787.2:c.233G>T, NM_001304787.2:c.233G>C, NM_001304787.2:c.233G>A, NM_001304787.1:c.233G>T, NM_001304787.1:c.233G>C, NM_001304787.1:c.233G>A, NP_699191.1:p.Arg67Leu, NP_699191.1:p.Arg67Pro, NP_699191.1:p.Arg67His, NP_001291716.1:p.Arg78Leu, NP_001291716.1:p.Arg78Pro, NP_001291716.1:p.Arg78His

Select item 14819853076.

rs1481985307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:58467143 (GRCh38)
20:57042199 (GRCh37)
Canonical SPDI:: NC_000020.11:58467142:C:G,NC_000020.11:58467142:C:T
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.58467143C>G, NC_000020.11:g.58467143C>T, NC_000020.10:g.57042199C>G, NC_000020.10:g.57042199C>T, NM_153360.3:c.704G>C, NM_153360.3:c.704G>A, NM_153360.2:c.704G>C, NM_153360.2:c.704G>A, NM_153360.1:c.704G>C, NM_153360.1:c.704G>A, NM_001304787.2:c.737G>C, NM_001304787.2:c.737G>A, NM_001304787.1:c.737G>C, NM_001304787.1:c.737G>A, NP_699191.1:p.Arg235Pro, NP_699191.1:p.Arg235Gln, NP_001291716.1:p.Arg246Pro, NP_001291716.1:p.Arg246Gln

Select item 14798243857.

rs1479824385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:58461145 (GRCh38)
20:57036201 (GRCh37)
Canonical SPDI:: NC_000020.11:58461144:G:T
Gene:: APCDD1L (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 (TOPMED)
HGVS:: NC_000020.11:g.58461145G>T, NC_000020.10:g.57036201G>T, NM_153360.3:c.1151C>A, NM_153360.2:c.1151C>A, NM_153360.1:c.1151C>A, NM_001304787.2:c.1184C>A, NM_001304787.1:c.1184C>A, NP_699191.1:p.Ala384Asp, NP_001291716.1:p.Ala395Asp

Select item 14782068158.

rs1478206815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:58467655 (GRCh38)
20:57042711 (GRCh37)
Canonical SPDI:: NC_000020.11:58467654:G:A,NC_000020.11:58467654:G:T
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.58467655G>A, NC_000020.11:g.58467655G>T, NC_000020.10:g.57042711G>A, NC_000020.10:g.57042711G>T, NM_153360.3:c.192C>T, NM_153360.3:c.192C>A, NM_153360.2:c.192C>T, NM_153360.2:c.192C>A, NM_153360.1:c.192C>T, NM_153360.1:c.192C>A, NM_001304787.2:c.225C>T, NM_001304787.2:c.225C>A, NM_001304787.1:c.225C>T, NM_001304787.1:c.225C>A, NP_699191.1:p.Cys64Ter, NP_001291716.1:p.Cys75Ter

Select item 14780349819.

rs1478034981 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:58461214 (GRCh38)
20:57036270 (GRCh37)
Canonical SPDI:: NC_000020.11:58461213:G:A,NC_000020.11:58461213:G:T
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.58461214G>A, NC_000020.11:g.58461214G>T, NC_000020.10:g.57036270G>A, NC_000020.10:g.57036270G>T, NM_153360.3:c.1082C>T, NM_153360.3:c.1082C>A, NM_153360.2:c.1082C>T, NM_153360.2:c.1082C>A, NM_153360.1:c.1082C>T, NM_153360.1:c.1082C>A, NM_001304787.2:c.1115C>T, NM_001304787.2:c.1115C>A, NM_001304787.1:c.1115C>T, NM_001304787.1:c.1115C>A, NP_699191.1:p.Thr361Ile, NP_699191.1:p.Thr361Asn, NP_001291716.1:p.Thr372Ile, NP_001291716.1:p.Thr372Asn

Select item 147803029210.

rs1478030292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:58467471 (GRCh38)
20:57042527 (GRCh37)
Canonical SPDI:: NC_000020.11:58467470:C:A,NC_000020.11:58467470:C:T
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.58467471C>A, NC_000020.11:g.58467471C>T, NC_000020.10:g.57042527C>A, NC_000020.10:g.57042527C>T, NM_153360.3:c.376G>T, NM_153360.3:c.376G>A, NM_153360.2:c.376G>T, NM_153360.2:c.376G>A, NM_153360.1:c.376G>T, NM_153360.1:c.376G>A, NM_001304787.2:c.409G>T, NM_001304787.2:c.409G>A, NM_001304787.1:c.409G>T, NM_001304787.1:c.409G>A, NP_699191.1:p.Asp126Tyr, NP_699191.1:p.Asp126Asn, NP_001291716.1:p.Asp137Tyr, NP_001291716.1:p.Asp137Asn

Select item 147769838611.

rs1477698386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:58467405 (GRCh38)
20:57042461 (GRCh37)
Canonical SPDI:: NC_000020.11:58467404:G:A,NC_000020.11:58467404:G:T
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58467405G>A, NC_000020.11:g.58467405G>T, NC_000020.10:g.57042461G>A, NC_000020.10:g.57042461G>T, NM_153360.3:c.442C>T, NM_153360.3:c.442C>A, NM_153360.2:c.442C>T, NM_153360.2:c.442C>A, NM_153360.1:c.442C>T, NM_153360.1:c.442C>A, NM_001304787.2:c.475C>T, NM_001304787.2:c.475C>A, NM_001304787.1:c.475C>T, NM_001304787.1:c.475C>A, NP_699191.1:p.Arg148Cys, NP_699191.1:p.Arg148Ser, NP_001291716.1:p.Arg159Cys, NP_001291716.1:p.Arg159Ser

Select item 147413161612.

rs1474131616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58461106 (GRCh38)
20:57036162 (GRCh37)
Canonical SPDI:: NC_000020.11:58461105:T:C
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000020.11:g.58461106T>C, NC_000020.10:g.57036162T>C, NM_153360.3:c.1190A>G, NM_153360.2:c.1190A>G, NM_153360.1:c.1190A>G, NM_001304787.2:c.1223A>G, NM_001304787.1:c.1223A>G, NP_699191.1:p.Asn397Ser, NP_001291716.1:p.Asn408Ser

Select item 147356800713.

rs1473568007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58467335 (GRCh38)
20:57042391 (GRCh37)
Canonical SPDI:: NC_000020.11:58467334:C:T
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.58467335C>T, NC_000020.10:g.57042391C>T, NM_153360.3:c.512G>A, NM_153360.2:c.512G>A, NM_153360.1:c.512G>A, NM_001304787.2:c.545G>A, NM_001304787.1:c.545G>A, NP_699191.1:p.Gly171Glu, NP_001291716.1:p.Gly182Glu

Select item 147334408714.

rs1473344087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58467350 (GRCh38)
20:57042406 (GRCh37)
Canonical SPDI:: NC_000020.11:58467349:C:T
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58467350C>T, NC_000020.10:g.57042406C>T, NM_153360.3:c.497G>A, NM_153360.2:c.497G>A, NM_153360.1:c.497G>A, NM_001304787.2:c.530G>A, NM_001304787.1:c.530G>A, NP_699191.1:p.Arg166Gln, NP_001291716.1:p.Arg177Gln

Select item 147137777515.

rs1471377775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 20:58470688 (GRCh38)
20:57045744 (GRCh37)
Canonical SPDI:: NC_000020.11:58470687:A:G,NC_000020.11:58470687:A:T
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58470688A>G, NC_000020.11:g.58470688A>T, NC_000020.10:g.57045744A>G, NC_000020.10:g.57045744A>T, NM_153360.3:c.109T>C, NM_153360.3:c.109T>A, NM_153360.2:c.109T>C, NM_153360.2:c.109T>A, NM_153360.1:c.109T>C, NM_153360.1:c.109T>A, NM_001304787.2:c.142T>C, NM_001304787.2:c.142T>A, NM_001304787.1:c.142T>C, NM_001304787.1:c.142T>A, NR_130908.2:n.801T>C, NR_130908.2:n.801T>A, NR_130908.1:n.340T>C, NR_130908.1:n.340T>A, NP_699191.1:p.Cys37Arg, NP_699191.1:p.Cys37Ser, NP_001291716.1:p.Cys48Arg, NP_001291716.1:p.Cys48Ser

Select item 147058180916.

rs1470581809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:58461527 (GRCh38)
20:57036583 (GRCh37)
Canonical SPDI:: NC_000020.11:58461526:C:T
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,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_000020.11:g.58461527C>T, NC_000020.10:g.57036583C>T, NM_153360.3:c.769G>A, NM_153360.2:c.769G>A, NM_153360.1:c.769G>A, NM_001304787.2:c.802G>A, NM_001304787.1:c.802G>A, NP_699191.1:p.Gly257Ser, NP_001291716.1:p.Gly268Ser

Select item 146881339617.

rs1468813396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58461517 (GRCh38)
20:57036573 (GRCh37)
Canonical SPDI:: NC_000020.11:58461516:G:A
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.58461517G>A, NC_000020.10:g.57036573G>A, NM_153360.3:c.779C>T, NM_153360.2:c.779C>T, NM_153360.1:c.779C>T, NM_001304787.2:c.812C>T, NM_001304787.1:c.812C>T, NP_699191.1:p.Ala260Val, NP_001291716.1:p.Ala271Val

Select item 146615309418.

rs1466153094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:58467619 (GRCh38)
20:57042675 (GRCh37)
Canonical SPDI:: NC_000020.11:58467618:G:C
Gene:: APCDD1L (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000011/2 (GnomAD_exomes)
HGVS:: NC_000020.11:g.58467619G>C, NC_000020.10:g.57042675G>C, NM_153360.3:c.228C>G, NM_153360.2:c.228C>G, NM_153360.1:c.228C>G, NM_001304787.2:c.261C>G, NM_001304787.1:c.261C>G

Select item 146560905719.

rs1465609057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:58467356 (GRCh38)
20:57042412 (GRCh37)
Canonical SPDI:: NC_000020.11:58467355:G:A
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000020.11:g.58467356G>A, NC_000020.10:g.57042412G>A, NM_153360.3:c.491C>T, NM_153360.2:c.491C>T, NM_153360.1:c.491C>T, NM_001304787.2:c.524C>T, NM_001304787.1:c.524C>T, NP_699191.1:p.Pro164Leu, NP_001291716.1:p.Pro175Leu

Select item 146333635020.

rs1463336350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:58461043 (GRCh38)
20:57036099 (GRCh37)
Canonical SPDI:: NC_000020.11:58461042:T:C
Gene:: APCDD1L (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.58461043T>C, NC_000020.10:g.57036099T>C, NM_153360.3:c.1253A>G, NM_153360.2:c.1253A>G, NM_153360.1:c.1253A>G, NM_001304787.2:c.1286A>G, NM_001304787.1:c.1286A>G, NP_699191.1:p.Gln418Arg, NP_001291716.1:p.Gln429Arg

<< First< Prev

Page of 32

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 640

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity