SNP Links for Protein (Select 332801090) - SNP

Links from Protein

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Select item 14842790221.

rs1484279022 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCC [Show Flanks]
Chromosome:: 4:82427217 (GRCh38)
4:83348371 (GRCh37)
Canonical SPDI:: NC_000004.12:82427217:TCC:TCCTCC
Gene:: HNRNPDL (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: TCCTCC=0./0 (ALFA)
TCC=0.000004/1 (TOPMED)
TCC=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82427218_82427220dup, NC_000004.11:g.83348371_83348373dup, NG_029681.1:g.8006_8008dup, NM_031372.4:c.991_993dup, NM_031372.3:c.991_993dup, NR_003249.2:n.1526_1528dup, NM_001207000.1:c.991_993dup, NM_005463.2:c.991_993dup, NM_005463.1:c.991_993dup, NP_112740.1:p.Gly331dup, NP_001193929.1:p.Gly331dup

Select item 14840483382.

rs1484048338 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:82429448 (GRCh38)
4:83350601 (GRCh37)
Canonical SPDI:: NC_000004.12:82429447:C:G
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82429448C>G, NC_000004.11:g.83350601C>G, NG_029681.1:g.5778G>C, NM_031372.4:c.243G>C, NM_031372.3:c.243G>C, NR_003249.2:n.778G>C, NM_001207000.1:c.243G>C, NM_005463.2:c.243G>C, NM_005463.1:c.243G>C

Select item 14807713133.

rs1480771313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:82428302 (GRCh38)
4:83349455 (GRCh37)
Canonical SPDI:: NC_000004.12:82428301:G:C
Gene:: HNRNPDL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82428302G>C, NC_000004.11:g.83349455G>C, NG_029681.1:g.6924C>G, NM_031372.4:c.588C>G, NM_031372.3:c.588C>G, NR_003249.2:n.1123C>G, NM_001207000.1:c.588C>G, NM_005463.2:c.588C>G, NM_005463.1:c.588C>G, NP_112740.1:p.Phe196Leu, NP_001193929.1:p.Phe196Leu

Select item 14807196174.

rs1480719617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:82429500 (GRCh38)
4:83350653 (GRCh37)
Canonical SPDI:: NC_000004.12:82429499:T:C,NC_000004.12:82429499:T:G
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.82429500T>C, NC_000004.12:g.82429500T>G, NC_000004.11:g.83350653T>C, NC_000004.11:g.83350653T>G, NG_029681.1:g.5726A>G, NG_029681.1:g.5726A>C, NM_031372.4:c.191A>G, NM_031372.4:c.191A>C, NM_031372.3:c.191A>G, NM_031372.3:c.191A>C, NR_003249.2:n.726A>G, NR_003249.2:n.726A>C, NM_001207000.1:c.191A>G, NM_001207000.1:c.191A>C, NM_005463.2:c.191A>G, NM_005463.2:c.191A>C, NM_005463.1:c.191A>G, NM_005463.1:c.191A>C, NP_112740.1:p.Gln64Arg, NP_112740.1:p.Gln64Pro, NP_001193929.1:p.Gln64Arg, NP_001193929.1:p.Gln64Pro

Select item 14801169945.

rs1480116994 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:82427229 (GRCh38)
4:83348382 (GRCh37)
Canonical SPDI:: NC_000004.12:82427228:C:G,NC_000004.12:82427228:C:T
Gene:: HNRNPDL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.82427229C>G, NC_000004.12:g.82427229C>T, NC_000004.11:g.83348382C>G, NC_000004.11:g.83348382C>T, NG_029681.1:g.7997G>C, NG_029681.1:g.7997G>A, NM_031372.4:c.982G>C, NM_031372.4:c.982G>A, NM_031372.3:c.982G>C, NM_031372.3:c.982G>A, NR_003249.2:n.1517G>C, NR_003249.2:n.1517G>A, NM_001207000.1:c.982G>C, NM_001207000.1:c.982G>A, NM_005463.2:c.982G>C, NM_005463.2:c.982G>A, NM_005463.1:c.982G>C, NM_005463.1:c.982G>A, NP_112740.1:p.Ala328Pro, NP_112740.1:p.Ala328Thr, NP_001193929.1:p.Ala328Pro, NP_001193929.1:p.Ala328Thr

Select item 14798494106.

rs1479849410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82428100 (GRCh38)
4:83349253 (GRCh37)
Canonical SPDI:: NC_000004.12:82428099:G:A
Gene:: HNRNPDL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.82428100G>A, NC_000004.11:g.83349253G>A, NG_029681.1:g.7126C>T, NM_031372.4:c.692C>T, NM_031372.3:c.692C>T, NR_003249.2:n.1227C>T, NM_001207000.1:c.692C>T, NM_005463.2:c.692C>T, NM_005463.1:c.692C>T, NP_112740.1:p.Pro231Leu, NP_001193929.1:p.Pro231Leu

Select item 14767452167.

rs1476745216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82429266 (GRCh38)
4:83350419 (GRCh37)
Canonical SPDI:: NC_000004.12:82429265:T:C
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82429266T>C, NC_000004.11:g.83350419T>C, NG_029681.1:g.5960A>G, NM_031372.4:c.425A>G, NM_031372.3:c.425A>G, NR_003249.2:n.960A>G, NM_001207000.1:c.425A>G, NM_005463.2:c.425A>G, NM_005463.1:c.425A>G, NP_112740.1:p.Lys142Arg, NP_001193929.1:p.Lys142Arg

Select item 14767023018.

rs1476702301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:82429547 (GRCh38)
4:83350700 (GRCh37)
Canonical SPDI:: NC_000004.12:82429546:G:A,NC_000004.12:82429546:G:C
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.82429547G>A, NC_000004.12:g.82429547G>C, NC_000004.11:g.83350700G>A, NC_000004.11:g.83350700G>C, NG_029681.1:g.5679C>T, NG_029681.1:g.5679C>G, NM_031372.4:c.144C>T, NM_031372.4:c.144C>G, NM_031372.3:c.144C>T, NM_031372.3:c.144C>G, NR_003249.2:n.679C>T, NR_003249.2:n.679C>G, NM_001207000.1:c.144C>T, NM_001207000.1:c.144C>G, NM_005463.2:c.144C>T, NM_005463.2:c.144C>G, NM_005463.1:c.144C>T, NM_005463.1:c.144C>G, NP_112740.1:p.Ser48Arg, NP_001193929.1:p.Ser48Arg

Select item 14698633479.

rs1469863347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:82429379 (GRCh38)
4:83350532 (GRCh37)
Canonical SPDI:: NC_000004.12:82429378:C:A,NC_000004.12:82429378:C:G
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82429379C>A, NC_000004.12:g.82429379C>G, NC_000004.11:g.83350532C>A, NC_000004.11:g.83350532C>G, NG_029681.1:g.5847G>T, NG_029681.1:g.5847G>C, NM_031372.4:c.312G>T, NM_031372.4:c.312G>C, NM_031372.3:c.312G>T, NM_031372.3:c.312G>C, NR_003249.2:n.847G>T, NR_003249.2:n.847G>C, NM_001207000.1:c.312G>T, NM_001207000.1:c.312G>C, NM_005463.2:c.312G>T, NM_005463.2:c.312G>C, NM_005463.1:c.312G>T, NM_005463.1:c.312G>C

Select item 146865623310.

rs1468656233 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82429306 (GRCh38)
4:83350459 (GRCh37)
Canonical SPDI:: NC_000004.12:82429305:T:C
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000004.12:g.82429306T>C, NC_000004.11:g.83350459T>C, NG_029681.1:g.5920A>G, NM_031372.4:c.385A>G, NM_031372.3:c.385A>G, NR_003249.2:n.920A>G, NM_001207000.1:c.385A>G, NM_005463.2:c.385A>G, NM_005463.1:c.385A>G, NP_112740.1:p.Ile129Val, NP_001193929.1:p.Ile129Val

Select item 146178272011.

rs1461782720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:82428058 (GRCh38)
4:83349211 (GRCh37)
Canonical SPDI:: NC_000004.12:82428057:G:C
Gene:: HNRNPDL (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.82428058G>C, NC_000004.11:g.83349211G>C, NG_029681.1:g.7168C>G, NM_031372.4:c.734C>G, NM_031372.3:c.734C>G, NR_003249.2:n.1269C>G, NM_001207000.1:c.734C>G, NM_005463.2:c.734C>G, NM_005463.1:c.734C>G, NP_112740.1:p.Ser245Cys, NP_001193929.1:p.Ser245Cys

Select item 145691912412.

rs1456919124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:82429544 (GRCh38)
4:83350697 (GRCh37)
Canonical SPDI:: NC_000004.12:82429543:G:A,NC_000004.12:82429543:G:C
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.82429544G>A, NC_000004.12:g.82429544G>C, NC_000004.11:g.83350697G>A, NC_000004.11:g.83350697G>C, NG_029681.1:g.5682C>T, NG_029681.1:g.5682C>G, NM_031372.4:c.147C>T, NM_031372.4:c.147C>G, NM_031372.3:c.147C>T, NM_031372.3:c.147C>G, NR_003249.2:n.682C>T, NR_003249.2:n.682C>G, NM_001207000.1:c.147C>T, NM_001207000.1:c.147C>G, NM_005463.2:c.147C>T, NM_005463.2:c.147C>G, NM_005463.1:c.147C>T, NM_005463.1:c.147C>G

Select item 145201261713.

rs1452012617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:82427233 (GRCh38)
4:83348386 (GRCh37)
Canonical SPDI:: NC_000004.12:82427232:A:C
Gene:: HNRNPDL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82427233A>C, NC_000004.11:g.83348386A>C, NG_029681.1:g.7993T>G, NM_031372.4:c.978T>G, NM_031372.3:c.978T>G, NR_003249.2:n.1513T>G, NM_001207000.1:c.978T>G, NM_005463.2:c.978T>G, NM_005463.1:c.978T>G

Select item 145110091914.

rs1451100919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:82428296 (GRCh38)
4:83349449 (GRCh37)
Canonical SPDI:: NC_000004.12:82428295:A:C
Gene:: HNRNPDL (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.82428296A>C, NC_000004.11:g.83349449A>C, NG_029681.1:g.6930T>G, NM_031372.4:c.594T>G, NM_031372.3:c.594T>G, NR_003249.2:n.1129T>G, NM_001207000.1:c.594T>G, NM_005463.2:c.594T>G, NM_005463.1:c.594T>G, NP_112740.1:p.Asp198Glu, NP_001193929.1:p.Asp198Glu

Select item 144772270815.

rs1447722708 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCCGC [Show Flanks]
Chromosome:: 4:82429587 (GRCh38)
4:83350741 (GRCh37)
Canonical SPDI:: NC_000004.12:82429587:GCGGCCGCGGCCGC:GCGGCCGCGGCCGCGGCCGC
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,inframe_insertion,2KB_upstream_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCCGCGGCCGCGGCCGC=0.000084/1 (ALFA)
GCGGCC=0.000394/55 (GnomAD)
HGVS:: NC_000004.12:g.82429590GGCCGC[3], NC_000004.11:g.83350743GGCCGC[3], NG_029681.1:g.5627GGCCGC[3], NM_031372.4:c.92GGCCGC[3], NM_031372.3:c.92GGCCGC[3], NR_003249.2:n.627GGCCGC[3], NM_001207000.1:c.92GGCCGC[3], NM_005463.2:c.92GGCCGC[3], NM_005463.1:c.92GGCCGC[3], NP_112740.1:p.31RP[3], NP_001193929.1:p.31RP[3]

Select item 144639395916.

rs1446393959 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82426065 (GRCh38)
4:83347218 (GRCh37)
Canonical SPDI:: NC_000004.12:82426064:T:C
Gene:: HNRNPDL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.82426065T>C, NC_000004.11:g.83347218T>C, NG_029681.1:g.9161A>G, NM_031372.4:c.1257A>G, NM_031372.3:c.1257A>G, NR_003249.2:n.1792A>G, NM_001207000.1:c.1086A>G, NM_005463.2:c.1257A>G, NM_005463.1:c.1257A>G

Select item 144468758617.

rs1444687586 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:82428380 (GRCh38)
4:83349533 (GRCh37)
Canonical SPDI:: NC_000004.12:82428379:T:A
Gene:: HNRNPDL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.82428380T>A, NC_000004.11:g.83349533T>A, NG_029681.1:g.6846A>T, NM_031372.4:c.510A>T, NM_031372.3:c.510A>T, NR_003249.2:n.1045A>T, NM_001207000.1:c.510A>T, NM_005463.2:c.510A>T, NM_005463.1:c.510A>T

Select item 144096827118.

rs1440968271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:82429669 (GRCh38)
4:83350822 (GRCh37)
Canonical SPDI:: NC_000004.12:82429668:A:G
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.82429669A>G, NC_000004.11:g.83350822A>G, NG_029681.1:g.5557T>C, NM_031372.4:c.22T>C, NM_031372.3:c.22T>C, NR_003249.2:n.557T>C, NM_001207000.1:c.22T>C, NM_005463.2:c.22T>C, NM_005463.1:c.22T>C, NP_112740.1:p.Ser8Pro, NP_001193929.1:p.Ser8Pro

Select item 143749797319.

rs1437497973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:82427248 (GRCh38)
4:83348401 (GRCh37)
Canonical SPDI:: NC_000004.12:82427247:T:C
Gene:: HNRNPDL (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000087/2 (ALFA)
C=0./0 (KOREAN)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.82427248T>C, NC_000004.11:g.83348401T>C, NG_029681.1:g.7978A>G, NM_031372.4:c.963A>G, NM_031372.3:c.963A>G, NR_003249.2:n.1498A>G, NM_001207000.1:c.963A>G, NM_005463.2:c.963A>G, NM_005463.1:c.963A>G

Select item 143706759920.

rs1437067599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:82429319 (GRCh38)
4:83350472 (GRCh37)
Canonical SPDI:: NC_000004.12:82429318:G:A
Gene:: HNRNPDL (Varview), ENOPH1 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000562/1 (Korea1K)
A=0.000685/2 (KOREAN)
HGVS:: NC_000004.12:g.82429319G>A, NC_000004.11:g.83350472G>A, NG_029681.1:g.5907C>T, NM_031372.4:c.372C>T, NM_031372.3:c.372C>T, NR_003249.2:n.907C>T, NM_001207000.1:c.372C>T, NM_005463.2:c.372C>T, NM_005463.1:c.372C>T

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dbSNP

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