SNP Links for Protein (Select 4504511) - SNP

Links from Protein

Items: 1 to 20 of 310

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Select item 14822995491.

rs1482299549 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:33037016 (GRCh38)
9:33037014 (GRCh37)
Canonical SPDI:: NC_000009.12:33037015:T:G
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33037016T>G, NC_000009.11:g.33037014T>G, NM_001539.4:c.876T>G, NM_001539.3:c.876T>G, NM_001539.2:c.876T>G, NM_001314039.2:c.405T>G, NM_001314039.1:c.405T>G

Select item 14756544082.

rs1475654408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33026906 (GRCh38)
9:33026904 (GRCh37)
Canonical SPDI:: NC_000009.12:33026905:G:A
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33026906G>A, NC_000009.11:g.33026904G>A, NG_012821.2:g.3226C>T, NM_001539.4:c.226G>A, NM_001539.3:c.226G>A, NM_001539.2:c.226G>A, NP_001530.1:p.Gly76Arg

Select item 14682082173.

rs1468208217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33038873 (GRCh38)
9:33038871 (GRCh37)
Canonical SPDI:: NC_000009.12:33038872:C:T
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.33038873C>T, NC_000009.11:g.33038871C>T, NM_001539.4:c.1164C>T, NM_001539.3:c.1164C>T, NM_001539.2:c.1164C>T, NM_001314039.2:c.693C>T, NM_001314039.1:c.693C>T

Select item 14646174324.

rs1464617432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33029939 (GRCh38)
9:33029937 (GRCh37)
Canonical SPDI:: NC_000009.12:33029938:C:T
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33029939C>T, NC_000009.11:g.33029937C>T, NG_012821.2:g.193G>A, NM_001539.4:c.365C>T, NM_001539.3:c.365C>T, NM_001539.2:c.365C>T, NM_001314039.2:c.-107C>T, NM_001314039.1:c.-107C>T, NP_001530.1:p.Ala122Val

Select item 14640664865.

rs1464066486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:33037074 (GRCh38)
9:33037072 (GRCh37)
Canonical SPDI:: NC_000009.12:33037073:C:G,NC_000009.12:33037073:C:T
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.33037074C>G, NC_000009.12:g.33037074C>T, NC_000009.11:g.33037072C>G, NC_000009.11:g.33037072C>T, NM_001539.4:c.934C>G, NM_001539.4:c.934C>T, NM_001539.3:c.934C>G, NM_001539.3:c.934C>T, NM_001539.2:c.934C>G, NM_001539.2:c.934C>T, NM_001314039.2:c.463C>G, NM_001314039.2:c.463C>T, NM_001314039.1:c.463C>G, NM_001314039.1:c.463C>T, NP_001530.1:p.Arg312Gly, NP_001530.1:p.Arg312Cys, NP_001300968.1:p.Arg155Gly, NP_001300968.1:p.Arg155Cys

Select item 14605189466.

rs1460518946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33026553 (GRCh38)
9:33026551 (GRCh37)
Canonical SPDI:: NC_000009.12:33026552:A:G
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33026553A>G, NC_000009.11:g.33026551A>G, NG_012821.2:g.3579T>C, NM_001539.4:c.69A>G, NM_001539.3:c.69A>G, NM_001539.2:c.69A>G, NM_001314039.2:c.-225A>G, NM_001314039.1:c.-225A>G

Select item 14565853387.

rs1456585338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33036656 (GRCh38)
9:33036654 (GRCh37)
Canonical SPDI:: NC_000009.12:33036655:G:A
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33036656G>A, NC_000009.11:g.33036654G>A, NM_001539.4:c.841G>A, NM_001539.3:c.841G>A, NM_001539.2:c.841G>A, NM_001314039.2:c.370G>A, NM_001314039.1:c.370G>A, NP_001530.1:p.Asp281Asn, NP_001300968.1:p.Asp124Asn

Select item 14555647928.

rs1455564792 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33029934 (GRCh38)
9:33029932 (GRCh37)
Canonical SPDI:: NC_000009.12:33029933:T:C
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33029934T>C, NC_000009.11:g.33029932T>C, NG_012821.2:g.198A>G, NM_001539.4:c.360T>C, NM_001539.3:c.360T>C, NM_001539.2:c.360T>C, NM_001314039.2:c.-112T>C, NM_001314039.1:c.-112T>C

Select item 14555173339.

rs1455517333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 9:33026929 (GRCh38)
9:33026927 (GRCh37)
Canonical SPDI:: NC_000009.12:33026928:C:A
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.33026929C>A, NC_000009.11:g.33026927C>A, NG_012821.2:g.3203G>T, NM_001539.4:c.249C>A, NM_001539.3:c.249C>A, NM_001539.2:c.249C>A

Select item 145485872910.

rs1454858729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33038843 (GRCh38)
9:33038841 (GRCh37)
Canonical SPDI:: NC_000009.12:33038842:A:G
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.33038843A>G, NC_000009.11:g.33038841A>G, NM_001539.4:c.1134A>G, NM_001539.3:c.1134A>G, NM_001539.2:c.1134A>G, NM_001314039.2:c.663A>G, NM_001314039.1:c.663A>G

Select item 144870186511.

rs1448701865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33037051 (GRCh38)
9:33037049 (GRCh37)
Canonical SPDI:: NC_000009.12:33037050:T:C
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33037051T>C, NC_000009.11:g.33037049T>C, NM_001539.4:c.911T>C, NM_001539.3:c.911T>C, NM_001539.2:c.911T>C, NM_001314039.2:c.440T>C, NM_001314039.1:c.440T>C, NP_001530.1:p.Leu304Pro, NP_001300968.1:p.Leu147Pro

Select item 144118474012.

rs1441184740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33030504 (GRCh38)
9:33030502 (GRCh37)
Canonical SPDI:: NC_000009.12:33030503:A:G
Gene:: DNAJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33030504A>G, NC_000009.11:g.33030502A>G, NM_001539.4:c.480A>G, NM_001539.3:c.480A>G, NM_001539.2:c.480A>G, NM_001314039.2:c.9A>G, NM_001314039.1:c.9A>G, NP_001530.1:p.Ile160Met, NP_001300968.1:p.Ile3Met

Select item 143971947413.

rs1439719474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33026508 (GRCh38)
9:33026506 (GRCh37)
Canonical SPDI:: NC_000009.12:33026507:C:T
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33026508C>T, NC_000009.11:g.33026506C>T, NG_012821.2:g.3624G>A, NM_001539.4:c.24C>T, NM_001539.3:c.24C>T, NM_001539.2:c.24C>T, NM_001314039.2:c.-270C>T, NM_001314039.1:c.-270C>T

Select item 143898782414.

rs1438987824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 9:33026942 (GRCh38)
9:33026940 (GRCh37)
Canonical SPDI:: NC_000009.12:33026941:T:G
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33026942T>G, NC_000009.11:g.33026940T>G, NG_012821.2:g.3190A>C, NM_001539.4:c.262T>G, NM_001539.3:c.262T>G, NM_001539.2:c.262T>G, NP_001530.1:p.Phe88Val

Select item 143829775415.

rs1438297754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:33038864 (GRCh38)
9:33038862 (GRCh37)
Canonical SPDI:: NC_000009.12:33038863:A:T
Gene:: DNAJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.33038864A>T, NC_000009.11:g.33038862A>T, NM_001539.4:c.1155A>T, NM_001539.3:c.1155A>T, NM_001539.2:c.1155A>T, NM_001314039.2:c.684A>T, NM_001314039.1:c.684A>T, NP_001530.1:p.Glu385Asp, NP_001300968.1:p.Glu228Asp

Select item 143766156816.

rs1437661568 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33038860 (GRCh38)
9:33038858 (GRCh37)
Canonical SPDI:: NC_000009.12:33038859:A:G
Gene:: DNAJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33038860A>G, NC_000009.11:g.33038858A>G, NM_001539.4:c.1151A>G, NM_001539.3:c.1151A>G, NM_001539.2:c.1151A>G, NM_001314039.2:c.680A>G, NM_001314039.1:c.680A>G, NP_001530.1:p.Asp384Gly, NP_001300968.1:p.Asp227Gly

Select item 143471166917.

rs1434711669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:33026902 (GRCh38)
9:33026900 (GRCh37)
Canonical SPDI:: NC_000009.12:33026901:G:A,NC_000009.12:33026901:G:C
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.33026902G>A, NC_000009.12:g.33026902G>C, NC_000009.11:g.33026900G>A, NC_000009.11:g.33026900G>C, NG_012821.2:g.3230C>T, NG_012821.2:g.3230C>G, NM_001539.4:c.222G>A, NM_001539.4:c.222G>C, NM_001539.3:c.222G>A, NM_001539.3:c.222G>C, NM_001539.2:c.222G>A, NM_001539.2:c.222G>C, NP_001530.1:p.Glu74Asp

Select item 143351577518.

rs1433515775 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33036603 (GRCh38)
9:33036601 (GRCh37)
Canonical SPDI:: NC_000009.12:33036602:A:G
Gene:: DNAJA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33036603A>G, NC_000009.11:g.33036601A>G, NM_001539.4:c.788A>G, NM_001539.3:c.788A>G, NM_001539.2:c.788A>G, NM_001314039.2:c.317A>G, NM_001314039.1:c.317A>G, NP_001530.1:p.Asp263Gly, NP_001300968.1:p.Asp106Gly

Select item 142656365719.

rs1426563657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 9:33029919 (GRCh38)
9:33029917 (GRCh37)
Canonical SPDI:: NC_000009.12:33029918:A:C,NC_000009.12:33029918:A:T
Gene:: DNAJA1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.33029919A>C, NC_000009.12:g.33029919A>T, NC_000009.11:g.33029917A>C, NC_000009.11:g.33029917A>T, NG_012821.2:g.213T>G, NG_012821.2:g.213T>A, NM_001539.4:c.345A>C, NM_001539.4:c.345A>T, NM_001539.3:c.345A>C, NM_001539.3:c.345A>T, NM_001539.2:c.345A>C, NM_001539.2:c.345A>T, NM_001314039.2:c.-127A>C, NM_001314039.2:c.-127A>T, NM_001314039.1:c.-127A>C, NM_001314039.1:c.-127A>T

Select item 142610964920.

rs1426109649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 9:33026548 (GRCh38)
9:33026546 (GRCh37)
Canonical SPDI:: NC_000009.12:33026547:T:A,NC_000009.12:33026547:T:C
Gene:: DNAJA1 (Varview), APTX (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.33026548T>A, NC_000009.12:g.33026548T>C, NC_000009.11:g.33026546T>A, NC_000009.11:g.33026546T>C, NG_012821.2:g.3584A>T, NG_012821.2:g.3584A>G, NM_001539.4:c.64T>A, NM_001539.4:c.64T>C, NM_001539.3:c.64T>A, NM_001539.3:c.64T>C, NM_001539.2:c.64T>A, NM_001539.2:c.64T>C, NM_001314039.2:c.-230T>A, NM_001314039.2:c.-230T>C, NM_001314039.1:c.-230T>A, NM_001314039.1:c.-230T>C, NP_001530.1:p.Leu22Met

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