SNP Links for Protein (Select 90186267) - SNP

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Links from Protein

Items: 1 to 20 of 649

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Select item 14904253411.

rs1490425341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:56111168 (GRCh38)
5:55406995 (GRCh37)
Canonical SPDI:: NC_000005.10:56111167:T:C
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.56111168T>C, NC_000005.9:g.55406995T>C, NM_024669.3:c.1580A>G, NM_024669.2:c.1580A>G, XM_047417710.1:c.1094A>G, NM_001039935.1:c.716A>G, NP_078945.2:p.Gln527Arg, XP_047273666.1:p.Gln365Arg

Select item 14902655442.

rs1490265544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:56176152 (GRCh38)
5:55471979 (GRCh37)
Canonical SPDI:: NC_000005.10:56176151:C:G
Gene:: ANKRD55 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.56176152C>G, NC_000005.9:g.55471979C>G, NM_024669.3:c.312G>C, NM_024669.2:c.312G>C

Select item 14902628313.

rs1490262831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:56111488 (GRCh38)
5:55407315 (GRCh37)
Canonical SPDI:: NC_000005.10:56111487:T:C
Gene:: ANKRD55 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000106/3 (TOMMO)
HGVS:: NC_000005.10:g.56111488T>C, NC_000005.9:g.55407315T>C, NM_024669.3:c.1260A>G, NM_024669.2:c.1260A>G, XM_047417710.1:c.774A>G, NM_001039935.1:c.396A>G

Select item 14879744404.

rs1487974440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:56143809 (GRCh38)
5:55439636 (GRCh37)
Canonical SPDI:: NC_000005.10:56143808:C:T
Gene:: ANKRD55 (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=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.56143809C>T, NC_000005.9:g.55439636C>T, NM_024669.3:c.604G>A, NM_024669.2:c.604G>A, XM_047417710.1:c.118G>A, NP_078945.2:p.Ala202Thr, XP_047273666.1:p.Ala40Thr

Select item 14871683935.

rs1487168393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:56159875 (GRCh38)
5:55455702 (GRCh37)
Canonical SPDI:: NC_000005.10:56159874:C:A,NC_000005.10:56159874:C:T
Gene:: ANKRD55 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.56159875C>A, NC_000005.10:g.56159875C>T, NC_000005.9:g.55455702C>A, NC_000005.9:g.55455702C>T, NM_024669.3:c.441G>T, NM_024669.3:c.441G>A, NM_024669.2:c.441G>T, NM_024669.2:c.441G>A, XM_047417710.1:c.-46G>T, XM_047417710.1:c.-46G>A, NP_078945.2:p.Leu147Phe

Select item 14860393256.

rs1486039325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:56170792 (GRCh38)
5:55466619 (GRCh37)
Canonical SPDI:: NC_000005.10:56170791:T:C
Gene:: ANKRD55 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56170792T>C, NC_000005.9:g.55466619T>C, NM_024669.3:c.324A>G, NM_024669.2:c.324A>G

Select item 14856812977.

rs1485681297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:56176254 (GRCh38)
5:55472081 (GRCh37)
Canonical SPDI:: NC_000005.10:56176253:A:G
Gene:: ANKRD55 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56176254A>G, NC_000005.9:g.55472081A>G, NM_024669.3:c.210T>C, NM_024669.2:c.210T>C

Select item 14852842858.

rs1485284285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:56116778 (GRCh38)
5:55412605 (GRCh37)
Canonical SPDI:: NC_000005.10:56116777:G:C
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.56116778G>C, NC_000005.9:g.55412605G>C, NM_024669.3:c.802C>G, NM_024669.2:c.802C>G, XM_047417710.1:c.316C>G, NM_001039935.1:c.-63C>G, NP_078945.2:p.Pro268Ala, XP_047273666.1:p.Pro106Ala

Select item 14842522429.

rs1484252242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:56111251 (GRCh38)
5:55407078 (GRCh37)
Canonical SPDI:: NC_000005.10:56111250:A:T
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.56111251A>T, NC_000005.9:g.55407078A>T, NM_024669.3:c.1497T>A, NM_024669.2:c.1497T>A, XM_047417710.1:c.1011T>A, NM_001039935.1:c.633T>A, NP_078945.2:p.Asn499Lys, XP_047273666.1:p.Asn337Lys

Select item 148276638710.

rs1482766387 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:56127084 (GRCh38)
5:55422911 (GRCh37)
Canonical SPDI:: NC_000005.10:56127083:G:C
Gene:: ANKRD55 (Varview), LOC101928419 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56127084G>C, NC_000005.9:g.55422911G>C, NM_024669.3:c.635C>G, NM_024669.2:c.635C>G, XR_241794.2:n.812G>C, XR_241794.1:n.768G>C, XM_047417710.1:c.149C>G, NP_078945.2:p.Ser212Cys, XP_047273666.1:p.Ser50Cys

Select item 148125091311.

rs1481250913 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:56111669 (GRCh38)
5:55407496 (GRCh37)
Canonical SPDI:: NC_000005.10:56111668:G:C
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.56111669G>C, NC_000005.9:g.55407496G>C, NM_024669.3:c.1079C>G, NM_024669.2:c.1079C>G, XM_047417710.1:c.593C>G, NM_001039935.1:c.215C>G, NP_078945.2:p.Ala360Gly, XP_047273666.1:p.Ala198Gly

Select item 148062018212.

rs1480620182 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:56111198 (GRCh38)
5:55407025 (GRCh37)
Canonical SPDI:: NC_000005.10:56111197:T:G
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.56111198T>G, NC_000005.9:g.55407025T>G, NM_024669.3:c.1550A>C, NM_024669.2:c.1550A>C, XM_047417710.1:c.1064A>C, NM_001039935.1:c.686A>C, NP_078945.2:p.Asp517Ala, XP_047273666.1:p.Asp355Ala

Select item 148026087713.

rs1480260877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:56100239 (GRCh38)
5:55396066 (GRCh37)
Canonical SPDI:: NC_000005.10:56100238:T:G
Gene:: ANKRD55 (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=0.000177/3 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000005.10:g.56100239T>G, NC_000005.9:g.55396066T>G, NM_024669.3:c.1789A>C, NM_024669.2:c.1789A>C, XM_047417710.1:c.1303A>C, NM_001039935.1:c.925A>C, NP_078945.2:p.Ser597Arg, XP_047273666.1:p.Ser435Arg

Select item 148023117614.

rs1480231176 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56111436 (GRCh38)
5:55407263 (GRCh37)
Canonical SPDI:: NC_000005.10:56111435:G:A
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56111436G>A, NC_000005.9:g.55407263G>A, NM_024669.3:c.1312C>T, NM_024669.2:c.1312C>T, XM_047417710.1:c.826C>T, NM_001039935.1:c.448C>T, NP_078945.2:p.Pro438Ser, XP_047273666.1:p.Pro276Ser

Select item 147910604515.

rs1479106045 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:56127025 (GRCh38)
5:55422853 (GRCh37)
Canonical SPDI:: NC_000005.10:56127025:CCC:CCCC
Gene:: ANKRD55 (Varview), LOC101928419 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.56127028dup, NC_000005.9:g.55422855dup, NM_024669.3:c.693dup, NM_024669.2:c.693dup, XR_241794.2:n.756dup, XR_241794.1:n.712dup, XM_047417710.1:c.207dup, NP_078945.2:p.Lys232fs, XP_047273666.1:p.Lys70fs

Select item 147701268616.

rs1477012686 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56116777 (GRCh38)
5:55412604 (GRCh37)
Canonical SPDI:: NC_000005.10:56116776:G:A
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.56116777G>A, NC_000005.9:g.55412604G>A, NM_024669.3:c.803C>T, NM_024669.2:c.803C>T, XM_047417710.1:c.317C>T, NM_001039935.1:c.-62C>T, NP_078945.2:p.Pro268Leu, XP_047273666.1:p.Pro106Leu

Select item 147626316717.

rs1476263167 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:56143922 (GRCh38)
5:55439749 (GRCh37)
Canonical SPDI:: NC_000005.10:56143921:G:A
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.56143922G>A, NC_000005.9:g.55439749G>A, NM_024669.3:c.491C>T, NM_024669.2:c.491C>T, XM_047417710.1:c.5C>T, NP_078945.2:p.Thr164Ile, XP_047273666.1:p.Thr2Ile

Select item 147594871618.

rs1475948716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:56111624 (GRCh38)
5:55407451 (GRCh37)
Canonical SPDI:: NC_000005.10:56111623:G:T
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.56111624G>T, NC_000005.9:g.55407451G>T, NM_024669.3:c.1124C>A, NM_024669.2:c.1124C>A, XM_047417710.1:c.638C>A, NM_001039935.1:c.260C>A, NP_078945.2:p.Thr375Asn, XP_047273666.1:p.Thr213Asn

Select item 147429722619.

rs1474297226 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:56126945 (GRCh38)
5:55422772 (GRCh37)
Canonical SPDI:: NC_000005.10:56126944:C:A
Gene:: ANKRD55 (Varview), LOC101928419 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.56126945C>A, NC_000005.9:g.55422772C>A, NM_024669.3:c.774G>T, NM_024669.2:c.774G>T, XR_241794.2:n.673C>A, XR_241794.1:n.629C>A, XM_047417710.1:c.288G>T

Select item 147394473720.

rs1473944737 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:56111264 (GRCh38)
5:55407091 (GRCh37)
Canonical SPDI:: NC_000005.10:56111263:T:C
Gene:: ANKRD55 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.56111264T>C, NC_000005.9:g.55407091T>C, NM_024669.3:c.1484A>G, NM_024669.2:c.1484A>G, XM_047417710.1:c.998A>G, NM_001039935.1:c.620A>G, NP_078945.2:p.Lys495Arg, XP_047273666.1:p.Lys333Arg

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