SNP Links for Protein (Select 338968901) - SNP

Links from Protein

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Select item 14835547321.

rs1483554732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110638500 (GRCh38)
13:111290847 (GRCh37)
Canonical SPDI:: NC_000013.11:110638499:C:T
Gene:: NAXD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.110638500C>T, NC_000013.10:g.111290847C>T, NM_018210.4:c.1152C>T, NM_018210.3:c.1152C>T, NM_001242881.2:c.1016C>T, NM_001242881.1:c.1016C>T, NM_001242882.2:c.962C>T, NM_001242882.1:c.962C>T, NM_001242883.2:c.686C>T, NM_001242883.1:c.686C>T, NR_040103.1:n.1099C>T, NR_040104.1:n.1015C>T, NP_001229810.1:p.Ala339Val, NP_001229811.1:p.Ala321Val, NP_001229812.1:p.Ala229Val

Select item 14790130532.

rs1479013053 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:110638455 (GRCh38)
13:111290802 (GRCh37)
Canonical SPDI:: NC_000013.11:110638454:A:G
Gene:: NAXD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110638455A>G, NC_000013.10:g.111290802A>G, NM_018210.4:c.1107A>G, NM_018210.3:c.1107A>G, NM_001242881.2:c.971A>G, NM_001242881.1:c.971A>G, NM_001242882.2:c.917A>G, NM_001242882.1:c.917A>G, NM_001242883.2:c.641A>G, NM_001242883.1:c.641A>G, NR_040103.1:n.1054A>G, NR_040104.1:n.970A>G, NP_001229810.1:p.His324Arg, NP_001229811.1:p.His306Arg, NP_001229812.1:p.His214Arg

Select item 14722409843.

rs1472240984 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:110615598 (GRCh38)
13:111267945 (GRCh37)
Canonical SPDI:: NC_000013.11:110615597:C:A
Gene:: NAXD (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant,5_prime_UTR_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_000013.11:g.110615598C>A, NC_000013.10:g.111267945C>A, NM_018210.3:c.-77C>A, NM_001242882.2:c.-4C>A, NM_001242882.1:c.-4C>A, NM_001242883.2:c.7C>A, NM_001242883.1:c.7C>A, NM_001242881.1:c.-77C>A, NR_040103.1:n.139C>A, NR_040104.1:n.139C>A, NP_001229812.1:p.Pro3Thr

Select item 14622282154.

rs1462228215 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110635501 (GRCh38)
13:111287848 (GRCh37)
Canonical SPDI:: NC_000013.11:110635500:G:A
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110635501G>A, NC_000013.10:g.111287848G>A, NM_018210.4:c.685G>A, NM_018210.3:c.685G>A, NM_001242881.2:c.685G>A, NM_001242881.1:c.685G>A, NM_001242882.2:c.631G>A, NM_001242882.1:c.631G>A, NM_001242883.2:c.355G>A, NM_001242883.1:c.355G>A, NR_040103.1:n.768G>A, NR_040104.1:n.684G>A, NP_060680.2:p.Gly229Arg, NP_001229810.1:p.Gly229Arg, NP_001229811.1:p.Gly211Arg, NP_001229812.1:p.Gly119Arg

Select item 14615003005.

rs1461500300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110634546 (GRCh38)
13:111286893 (GRCh37)
Canonical SPDI:: NC_000013.11:110634545:G:A
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_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_000013.11:g.110634546G>A, NC_000013.10:g.111286893G>A, NM_018210.4:c.497G>A, NM_018210.3:c.497G>A, NM_001242881.2:c.497G>A, NM_001242881.1:c.497G>A, NM_001242882.2:c.443G>A, NM_001242882.1:c.443G>A, NM_001242883.2:c.167G>A, NM_001242883.1:c.167G>A, NR_040103.1:n.585G>A, NR_040104.1:n.496G>A, NP_060680.2:p.Gly166Asp, NP_001229810.1:p.Gly166Asp, NP_001229811.1:p.Gly148Asp, NP_001229812.1:p.Gly56Asp

Select item 14594307506.

rs1459430750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110615640 (GRCh38)
13:111267987 (GRCh37)
Canonical SPDI:: NC_000013.11:110615639:C:T
Gene:: NAXD (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000013.11:g.110615640C>T, NC_000013.10:g.111267987C>T, NM_018210.4:c.-35C>T, NM_018210.3:c.-35C>T, NM_001242881.2:c.-35C>T, NM_001242881.1:c.-35C>T, NM_001242882.2:c.39C>T, NM_001242882.1:c.39C>T, NM_001242883.2:c.49C>T, NM_001242883.1:c.49C>T, NR_040103.1:n.181C>T, NR_040104.1:n.181C>T, NP_001229812.1:p.Gln17Ter

Select item 14555474347.

rs1455547434 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 13:110634688 (GRCh38)
13:111287035 (GRCh37)
Canonical SPDI:: NC_000013.11:110634687:T:
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110634688del, NC_000013.10:g.111287035del, NM_018210.4:c.563del, NM_018210.3:c.563del, NM_001242881.2:c.563del, NM_001242881.1:c.563del, NM_001242882.2:c.509del, NM_001242882.1:c.509del, NM_001242883.2:c.233del, NM_001242883.1:c.233del, NR_040103.1:n.651del, NR_040104.1:n.562del, NP_060680.2:p.Val188fs, NP_001229810.1:p.Val188fs, NP_001229811.1:p.Val170fs, NP_001229812.1:p.Val78fs

Select item 14551857478.

rs1455185747 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:110637234 (GRCh38)
13:111289581 (GRCh37)
Canonical SPDI:: NC_000013.11:110637233:C:A
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110637234C>A, NC_000013.10:g.111289581C>A, NM_018210.4:c.878C>A, NM_018210.3:c.878C>A, NM_001242881.2:c.878C>A, NM_001242881.1:c.878C>A, NM_001242882.2:c.824C>A, NM_001242882.1:c.824C>A, NM_001242883.2:c.548C>A, NM_001242883.1:c.548C>A, NR_040103.1:n.961C>A, NR_040104.1:n.877C>A, NP_060680.2:p.Pro293Gln, NP_001229810.1:p.Pro293Gln, NP_001229811.1:p.Pro275Gln, NP_001229812.1:p.Pro183Gln

Select item 14526890639.

rs1452689063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:110638521 (GRCh38)
13:111290868 (GRCh37)
Canonical SPDI:: NC_000013.11:110638520:A:G
Gene:: NAXD (Varview)
Functional Consequence:: coding_sequence_variant,stop_lost,non_coding_transcript_variant,missense_variant,terminator_codon_variant
HGVS:: NC_000013.11:g.110638521A>G, NC_000013.10:g.111290868A>G, NM_018210.4:c.1173A>G, NM_018210.3:c.1173A>G, NM_001242881.2:c.1037A>G, NM_001242881.1:c.1037A>G, NM_001242882.2:c.983A>G, NM_001242882.1:c.983A>G, NM_001242883.2:c.707A>G, NM_001242883.1:c.707A>G, NR_040103.1:n.1120A>G, NR_040104.1:n.1036A>G, NP_060680.2:p.Ter391Trp, NP_001229810.1:p.Glu346Gly, NP_001229811.1:p.Glu328Gly, NP_001229812.1:p.Glu236Gly

Select item 144976374910.

rs1449763749 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:110634766 (GRCh38)
13:111287113 (GRCh37)
Canonical SPDI:: NC_000013.11:110634765:A:G
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110634766A>G, NC_000013.10:g.111287113A>G, NM_018210.4:c.641A>G, NM_018210.3:c.641A>G, NM_001242881.2:c.641A>G, NM_001242881.1:c.641A>G, NM_001242882.2:c.587A>G, NM_001242882.1:c.587A>G, NM_001242883.2:c.311A>G, NM_001242883.1:c.311A>G, NR_040103.1:n.729A>G, NR_040104.1:n.640A>G, NP_060680.2:p.Tyr214Cys, NP_001229810.1:p.Tyr214Cys, NP_001229811.1:p.Tyr196Cys, NP_001229812.1:p.Tyr104Cys

Select item 144905659611.

rs1449056596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:110637138 (GRCh38)
13:111289485 (GRCh37)
Canonical SPDI:: NC_000013.11:110637137:G:A
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110637138G>A, NC_000013.10:g.111289485G>A, NM_018210.4:c.782G>A, NM_018210.3:c.782G>A, NM_001242881.2:c.782G>A, NM_001242881.1:c.782G>A, NM_001242882.2:c.728G>A, NM_001242882.1:c.728G>A, NM_001242883.2:c.452G>A, NM_001242883.1:c.452G>A, NR_040103.1:n.865G>A, NR_040104.1:n.781G>A, NP_060680.2:p.Cys261Tyr, NP_001229810.1:p.Cys261Tyr, NP_001229811.1:p.Cys243Tyr, NP_001229812.1:p.Cys151Tyr

Select item 144637651812.

rs1446376518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCCTGGTACACTGGGCG [Show Flanks]
Chromosome:: 13:110637196 (GRCh38)
13:111289544 (GRCh37)
Canonical SPDI:: NC_000013.11:110637196:CTGGGCGTCCTGGTACACTGGGCG:CTGGGCGTCCTGGTACACTGGGCGTCCTGGTACACTGGGCG
Gene:: NAXD (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CTGGGCGTCCTGGTACACTGGGCGTCCTGGTACACTGGGCG=0./0 (ALFA)
CTGGGCGTCCTGGTACA=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.110637204_110637220dup, NC_000013.10:g.111289551_111289567dup, NM_018210.4:c.848_864dup, NM_018210.3:c.848_864dup, NM_001242881.2:c.848_864dup, NM_001242881.1:c.848_864dup, NM_001242882.2:c.794_810dup, NM_001242882.1:c.794_810dup, NM_001242883.2:c.518_534dup, NM_001242883.1:c.518_534dup, NR_040103.1:n.931_947dup, NR_040104.1:n.847_863dup, NP_060680.2:p.Leu289fs, NP_001229810.1:p.Leu289fs, NP_001229811.1:p.Leu271fs, NP_001229812.1:p.Leu179fs

Select item 144219496413.

rs1442194964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110627485 (GRCh38)
13:111279832 (GRCh37)
Canonical SPDI:: NC_000013.11:110627484:C:T
Gene:: NAXD (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110627485C>T, NC_000013.10:g.111279832C>T, NM_018210.4:c.433C>T, NM_018210.3:c.433C>T, NM_001242881.2:c.433C>T, NM_001242881.1:c.433C>T, NM_001242882.2:c.379C>T, NM_001242882.1:c.379C>T, NM_001242883.2:c.103C>T, NM_001242883.1:c.103C>T, NR_040103.1:n.521C>T, NR_040104.1:n.432C>T

Select item 144215051914.

rs1442150519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110615595 (GRCh38)
13:111267942 (GRCh37)
Canonical SPDI:: NC_000013.11:110615594:C:T
Gene:: NAXD (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000013.11:g.110615595C>T, NC_000013.10:g.111267942C>T, NM_018210.3:c.-80C>T, NM_001242882.2:c.-7C>T, NM_001242882.1:c.-7C>T, NM_001242883.2:c.4C>T, NM_001242883.1:c.4C>T, NM_001242881.1:c.-80C>T, NR_040103.1:n.136C>T, NR_040104.1:n.136C>T

Select item 144031528615.

rs1440315286 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110635563 (GRCh38)
13:111287910 (GRCh37)
Canonical SPDI:: NC_000013.11:110635562:C:T
Gene:: NAXD (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000043/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000016/4 (GnomAD_exomes)
T=0.000354/6 (TOMMO)
HGVS:: NC_000013.11:g.110635563C>T, NC_000013.10:g.111287910C>T, NM_018210.4:c.747C>T, NM_018210.3:c.747C>T, NM_001242881.2:c.747C>T, NM_001242881.1:c.747C>T, NM_001242882.2:c.693C>T, NM_001242882.1:c.693C>T, NM_001242883.2:c.417C>T, NM_001242883.1:c.417C>T, NR_040103.1:n.830C>T, NR_040104.1:n.746C>T

Select item 143581806616.

rs1435818066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 13:110635559 (GRCh38)
13:111287906 (GRCh37)
Canonical SPDI:: NC_000013.11:110635558:A:C
Gene:: NAXD (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.110635559A>C, NC_000013.10:g.111287906A>C, NM_018210.4:c.743A>C, NM_018210.3:c.743A>C, NM_001242881.2:c.743A>C, NM_001242881.1:c.743A>C, NM_001242882.2:c.689A>C, NM_001242882.1:c.689A>C, NM_001242883.2:c.413A>C, NM_001242883.1:c.413A>C, NR_040103.1:n.826A>C, NR_040104.1:n.742A>C, NP_060680.2:p.Glu248Ala, NP_001229810.1:p.Glu248Ala, NP_001229811.1:p.Glu230Ala, NP_001229812.1:p.Glu138Ala

Select item 142515280317.

rs1425152803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:110635493 (GRCh38)
13:111287840 (GRCh37)
Canonical SPDI:: NC_000013.11:110635492:A:G
Gene:: NAXD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110635493A>G, NC_000013.10:g.111287840A>G, NM_018210.4:c.677A>G, NM_018210.3:c.677A>G, NM_001242881.2:c.677A>G, NM_001242881.1:c.677A>G, NM_001242882.2:c.623A>G, NM_001242882.1:c.623A>G, NM_001242883.2:c.347A>G, NM_001242883.1:c.347A>G, NR_040103.1:n.760A>G, NR_040104.1:n.676A>G, NP_060680.2:p.Asp226Gly, NP_001229810.1:p.Asp226Gly, NP_001229811.1:p.Asp208Gly, NP_001229812.1:p.Asp116Gly

Select item 141626577518.

rs1416265775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:110638401 (GRCh38)
13:111290748 (GRCh37)
Canonical SPDI:: NC_000013.11:110638400:C:T
Gene:: NAXD (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110638401C>T, NC_000013.10:g.111290748C>T, NM_018210.4:c.1053C>T, NM_018210.3:c.1053C>T, NM_001242881.2:c.917C>T, NM_001242881.1:c.917C>T, NM_001242882.2:c.863C>T, NM_001242882.1:c.863C>T, NM_001242883.2:c.587C>T, NM_001242883.1:c.587C>T, NR_040103.1:n.1000C>T, NR_040104.1:n.916C>T, NP_001229810.1:p.Ala306Val, NP_001229811.1:p.Ala288Val, NP_001229812.1:p.Ala196Val

Select item 141483036319.

rs1414830363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 13:110638387 (GRCh38)
13:111290734 (GRCh37)
Canonical SPDI:: NC_000013.11:110638386:T:A
Gene:: NAXD (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.110638387T>A, NC_000013.10:g.111290734T>A, NM_018210.4:c.1039T>A, NM_018210.3:c.1039T>A, NM_001242881.2:c.903T>A, NM_001242881.1:c.903T>A, NM_001242882.2:c.849T>A, NM_001242882.1:c.849T>A, NM_001242883.2:c.573T>A, NM_001242883.1:c.573T>A, NR_040103.1:n.986T>A, NR_040104.1:n.902T>A, NP_060680.2:p.Ser347Thr

Select item 140959587320.

rs1409595873 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 13:110635569 (GRCh38)
13:111287916 (GRCh37)
Canonical SPDI:: NC_000013.11:110635568:CC:C
Gene:: NAXD (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.110635570del, NC_000013.10:g.111287917del, NM_018210.4:c.754del, NM_018210.3:c.754del, NM_001242881.2:c.754del, NM_001242881.1:c.754del, NM_001242882.2:c.700del, NM_001242882.1:c.700del, NM_001242883.2:c.424del, NM_001242883.1:c.424del, NR_040103.1:n.837del, NR_040104.1:n.753del, NP_060680.2:p.Leu252fs, NP_001229810.1:p.Leu252fs, NP_001229811.1:p.Leu234fs, NP_001229812.1:p.Leu142fs

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