SNP Links for Protein (Select 1220516010) - SNP

Links from Protein

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Select item 14863516491.

rs1486351649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:83136485 (GRCh38)
15:83805237 (GRCh37)
Canonical SPDI:: NC_000015.10:83136484:A:T
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.83136485A>T, NC_000015.9:g.83805237A>T, NM_023003.5:c.926A>T, NM_023003.4:c.926A>T, NM_023003.3:c.926A>T, NM_016073.4:c.*2785T>A, NM_001144903.3:c.833A>T, NM_001144903.2:c.833A>T, NM_001144903.1:c.833A>T, NM_001330385.3:c.*39A>T, NM_001330385.2:c.*39A>T, NM_001330385.1:c.*39A>T, NM_001353882.2:c.482A>T, NM_001353882.1:c.482A>T, NM_001353878.2:c.1050A>T, NM_001353878.1:c.1050A>T, NM_001353879.2:c.653A>T, NM_001353879.1:c.653A>T, NM_001353881.2:c.482A>T, NM_001353881.1:c.482A>T, NM_001353880.2:c.560A>T, NM_001353880.1:c.560A>T, NM_001353883.2:c.329A>T, NM_001353883.1:c.329A>T, NR_148560.2:n.840A>T, NR_148560.1:n.999A>T, NR_148561.2:n.810A>T, NR_148561.1:n.969A>T, NM_001353884.2:c.329A>T, NM_001353884.1:c.329A>T, NP_075379.2:p.Gln309Leu, NP_001138375.1:p.Gln278Leu, NP_001340811.1:p.Gln161Leu, NP_001340808.1:p.Gln218Leu, NP_001340810.1:p.Gln161Leu, NP_001340809.1:p.Gln187Leu, NP_001340812.1:p.Gln110Leu, NP_001340813.1:p.Gln110Leu

Select item 14860909452.

rs1486090945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:83127403 (GRCh38)
15:83796155 (GRCh37)
Canonical SPDI:: NC_000015.10:83127402:C:T
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.83127403C>T, NC_000015.9:g.83796155C>T, NM_023003.5:c.847C>T, NM_023003.4:c.847C>T, NM_023003.3:c.847C>T, NM_001144903.3:c.754C>T, NM_001144903.2:c.754C>T, NM_001144903.1:c.754C>T, NM_001330385.3:c.527C>T, NM_001330385.2:c.527C>T, NM_001330385.1:c.527C>T, XM_011521679.3:c.847C>T, XM_011521679.2:c.847C>T, XM_011521679.1:c.847C>T, XR_931848.3:n.668C>T, XR_931848.2:n.726C>T, XR_931848.1:n.838C>T, NM_001353882.2:c.403C>T, NM_001353882.1:c.403C>T, NM_001353878.2:c.847C>T, NM_001353878.1:c.847C>T, NM_001353879.2:c.574C>T, NM_001353879.1:c.574C>T, NM_001353881.2:c.403C>T, NM_001353881.1:c.403C>T, NM_001353880.2:c.481C>T, NM_001353880.1:c.481C>T, NM_001353883.2:c.250C>T, NM_001353883.1:c.250C>T, NR_148560.2:n.761C>T, NR_148560.1:n.920C>T, NR_148561.2:n.731C>T, NR_148561.1:n.890C>T, NM_001353884.2:c.250C>T, NM_001353884.1:c.250C>T, NP_001317314.1:p.Thr176Ile

Select item 14857512183.

rs1485751218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:83122769 (GRCh38)
15:83791521 (GRCh37)
Canonical SPDI:: NC_000015.10:83122768:C:G
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.83122769C>G, NC_000015.9:g.83791521C>G, NM_023003.5:c.494C>G, NM_023003.4:c.494C>G, NM_023003.3:c.494C>G, NM_001144903.3:c.494C>G, NM_001144903.2:c.494C>G, NM_001144903.1:c.494C>G, XM_011521679.3:c.494C>G, XM_011521679.2:c.494C>G, XM_011521679.1:c.494C>G, NM_001353882.2:c.50C>G, NM_001353882.1:c.50C>G, NM_001353878.2:c.494C>G, NM_001353878.1:c.494C>G, NM_001353879.2:c.221C>G, NM_001353879.1:c.221C>G, NM_001353881.2:c.50C>G, NM_001353881.1:c.50C>G, NM_001353880.2:c.221C>G, NM_001353880.1:c.221C>G, XR_007064460.1:n.530C>G, NP_075379.2:p.Thr165Arg, NP_001138375.1:p.Thr165Arg, XP_011519981.1:p.Thr165Arg, NP_001340811.1:p.Thr17Arg, NP_001340807.1:p.Thr165Arg, NP_001340808.1:p.Thr74Arg, NP_001340810.1:p.Thr17Arg, NP_001340809.1:p.Thr74Arg

Select item 14778428344.

rs1477842834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:83119589 (GRCh38)
15:83788341 (GRCh37)
Canonical SPDI:: NC_000015.10:83119588:T:C
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.83119589T>C, NC_000015.9:g.83788341T>C, NM_023003.5:c.306T>C, NM_023003.4:c.306T>C, NM_023003.3:c.306T>C, NM_001144903.3:c.306T>C, NM_001144903.2:c.306T>C, NM_001144903.1:c.306T>C, NM_001330385.3:c.306T>C, NM_001330385.2:c.306T>C, NM_001330385.1:c.306T>C, XM_011521679.3:c.306T>C, XM_011521679.2:c.306T>C, XM_011521679.1:c.306T>C, XR_931848.3:n.342T>C, XR_931848.2:n.400T>C, XR_931848.1:n.512T>C, NM_001353882.2:c.-192T>C, NM_001353882.1:c.-192T>C, NM_001353878.2:c.306T>C, NM_001353878.1:c.306T>C, NM_001353879.2:c.33T>C, NM_001353879.1:c.33T>C, NM_001353881.2:c.-192T>C, NM_001353881.1:c.-192T>C, NM_001353880.2:c.33T>C, NM_001353880.1:c.33T>C, NM_001353883.2:c.-87T>C, NM_001353883.1:c.-87T>C, NR_148560.2:n.342T>C, NR_148560.1:n.501T>C, NR_148561.2:n.342T>C, NR_148561.1:n.501T>C, NM_001353884.2:c.-87T>C, NM_001353884.1:c.-87T>C, XR_007064460.1:n.342T>C

Select item 14724206485.

rs1472420648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:83124674 (GRCh38)
15:83793426 (GRCh37)
Canonical SPDI:: NC_000015.10:83124673:T:A
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.83124674T>A, NC_000015.9:g.83793426T>A, NM_023003.5:c.606T>A, NM_023003.4:c.606T>A, NM_023003.3:c.606T>A, NM_001144903.3:c.606T>A, NM_001144903.2:c.606T>A, NM_001144903.1:c.606T>A, XM_011521679.3:c.606T>A, XM_011521679.2:c.606T>A, XM_011521679.1:c.606T>A, XR_931848.3:n.520T>A, XR_931848.2:n.578T>A, XR_931848.1:n.690T>A, NM_001353882.2:c.162T>A, NM_001353882.1:c.162T>A, NM_001353878.2:c.606T>A, NM_001353878.1:c.606T>A, NM_001353879.2:c.333T>A, NM_001353879.1:c.333T>A, NM_001353881.2:c.162T>A, NM_001353881.1:c.162T>A, NM_001353880.2:c.333T>A, NM_001353880.1:c.333T>A, NM_001353883.2:c.9T>A, NM_001353883.1:c.9T>A, NR_148560.2:n.520T>A, NR_148560.1:n.679T>A, NR_148561.2:n.490T>A, NR_148561.1:n.649T>A, NM_001353884.2:c.9T>A, NM_001353884.1:c.9T>A, XR_007064460.1:n.1154T>A

Select item 14695157706.

rs1469515770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:83136633 (GRCh38)
15:83805385 (GRCh37)
Canonical SPDI:: NC_000015.10:83136632:G:A
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.83136633G>A, NC_000015.9:g.83805385G>A, NM_023003.5:c.1074G>A, NM_023003.4:c.1074G>A, NM_023003.3:c.1074G>A, NM_016073.4:c.*2637C>T, NM_001144903.3:c.981G>A, NM_001144903.2:c.981G>A, NM_001144903.1:c.981G>A, NM_001330385.3:c.*187G>A, NM_001330385.2:c.*187G>A, NM_001330385.1:c.*187G>A, NM_001353882.2:c.630G>A, NM_001353882.1:c.630G>A, NM_001353878.2:c.*115G>A, NM_001353878.1:c.*115G>A, NM_001353879.2:c.801G>A, NM_001353879.1:c.801G>A, NM_001353881.2:c.630G>A, NM_001353881.1:c.630G>A, NM_001353880.2:c.708G>A, NM_001353880.1:c.708G>A, NM_001353883.2:c.477G>A, NM_001353883.1:c.477G>A, NR_148560.2:n.988G>A, NR_148560.1:n.1147G>A, NR_148561.2:n.958G>A, NR_148561.1:n.1117G>A, NM_001353884.2:c.477G>A, NM_001353884.1:c.477G>A

Select item 14665826527.

rs1466582652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:83136656 (GRCh38)
15:83805408 (GRCh37)
Canonical SPDI:: NC_000015.10:83136655:A:G
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83136656A>G, NC_000015.9:g.83805408A>G, NM_023003.5:c.1097A>G, NM_023003.4:c.1097A>G, NM_023003.3:c.1097A>G, NM_016073.4:c.*2614T>C, NM_001144903.3:c.1004A>G, NM_001144903.2:c.1004A>G, NM_001144903.1:c.1004A>G, NM_001330385.3:c.*210A>G, NM_001330385.2:c.*210A>G, NM_001330385.1:c.*210A>G, NM_001353882.2:c.653A>G, NM_001353882.1:c.653A>G, NM_001353878.2:c.*138A>G, NM_001353878.1:c.*138A>G, NM_001353879.2:c.824A>G, NM_001353879.1:c.824A>G, NM_001353881.2:c.653A>G, NM_001353881.1:c.653A>G, NM_001353880.2:c.731A>G, NM_001353880.1:c.731A>G, NM_001353883.2:c.500A>G, NM_001353883.1:c.500A>G, NR_148560.2:n.1011A>G, NR_148560.1:n.1170A>G, NR_148561.2:n.981A>G, NR_148561.1:n.1140A>G, NM_001353884.2:c.500A>G, NM_001353884.1:c.500A>G, NP_075379.2:p.Glu366Gly, NP_001138375.1:p.Glu335Gly, NP_001340811.1:p.Glu218Gly, NP_001340808.1:p.Glu275Gly, NP_001340810.1:p.Glu218Gly, NP_001340809.1:p.Glu244Gly, NP_001340812.1:p.Glu167Gly, NP_001340813.1:p.Glu167Gly

Select item 14625691858.

rs1462569185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:83122859 (GRCh38)
15:83791611 (GRCh37)
Canonical SPDI:: NC_000015.10:83122858:A:C
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.83122859A>C, NC_000015.9:g.83791611A>C, NM_023003.5:c.584A>C, NM_023003.4:c.584A>C, NM_023003.3:c.584A>C, NM_001144903.3:c.584A>C, NM_001144903.2:c.584A>C, NM_001144903.1:c.584A>C, XM_011521679.3:c.584A>C, XM_011521679.2:c.584A>C, XM_011521679.1:c.584A>C, NM_001353882.2:c.140A>C, NM_001353882.1:c.140A>C, NM_001353878.2:c.584A>C, NM_001353878.1:c.584A>C, NM_001353879.2:c.311A>C, NM_001353879.1:c.311A>C, NM_001353881.2:c.140A>C, NM_001353881.1:c.140A>C, NM_001353880.2:c.311A>C, NM_001353880.1:c.311A>C, XR_007064460.1:n.620A>C, NP_075379.2:p.Asn195Thr, NP_001138375.1:p.Asn195Thr, XP_011519981.1:p.Asn195Thr, NP_001340811.1:p.Asn47Thr, NP_001340807.1:p.Asn195Thr, NP_001340808.1:p.Asn104Thr, NP_001340810.1:p.Asn47Thr, NP_001340809.1:p.Asn104Thr

Select item 14570530199.

rs1457053019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:83127465 (GRCh38)
15:83796217 (GRCh37)
Canonical SPDI:: NC_000015.10:83127464:A:T
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83127465A>T, NC_000015.9:g.83796217A>T, NM_023003.5:c.909A>T, NM_023003.4:c.909A>T, NM_023003.3:c.909A>T, NM_001144903.3:c.816A>T, NM_001144903.2:c.816A>T, NM_001144903.1:c.816A>T, NM_001330385.3:c.*22A>T, NM_001330385.2:c.*22A>T, NM_001330385.1:c.*22A>T, XM_011521679.3:c.909A>T, XM_011521679.2:c.909A>T, XM_011521679.1:c.909A>T, NM_001353882.2:c.465A>T, NM_001353882.1:c.465A>T, NM_001353878.2:c.909A>T, NM_001353878.1:c.909A>T, NM_001353879.2:c.636A>T, NM_001353879.1:c.636A>T, NM_001353881.2:c.465A>T, NM_001353881.1:c.465A>T, NM_001353880.2:c.543A>T, NM_001353880.1:c.543A>T, NM_001353883.2:c.312A>T, NM_001353883.1:c.312A>T, NR_148560.2:n.823A>T, NR_148560.1:n.982A>T, NR_148561.2:n.793A>T, NR_148561.1:n.952A>T, NM_001353884.2:c.312A>T, NM_001353884.1:c.312A>T

Select item 145230672810.

rs1452306728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:83121921 (GRCh38)
15:83790673 (GRCh37)
Canonical SPDI:: NC_000015.10:83121920:G:A
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83121921G>A, NC_000015.9:g.83790673G>A, NM_023003.5:c.399G>A, NM_023003.4:c.399G>A, NM_023003.3:c.399G>A, NM_001144903.3:c.399G>A, NM_001144903.2:c.399G>A, NM_001144903.1:c.399G>A, NM_001330385.3:c.399G>A, NM_001330385.2:c.399G>A, NM_001330385.1:c.399G>A, XM_011521679.3:c.399G>A, XM_011521679.2:c.399G>A, XM_011521679.1:c.399G>A, XR_931848.3:n.435G>A, XR_931848.2:n.493G>A, XR_931848.1:n.605G>A, NM_001353882.2:c.-46G>A, NM_001353882.1:c.-46G>A, NM_001353878.2:c.399G>A, NM_001353878.1:c.399G>A, NM_001353879.2:c.126G>A, NM_001353879.1:c.126G>A, NM_001353881.2:c.-46G>A, NM_001353881.1:c.-46G>A, NM_001353880.2:c.126G>A, NM_001353880.1:c.126G>A, NR_148560.2:n.435G>A, NR_148560.1:n.594G>A, XR_007064460.1:n.435G>A

Select item 145221457511.

rs1452214575 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 15:83121945 (GRCh38)
15:83790697 (GRCh37)
Canonical SPDI:: NC_000015.10:83121944:A:G,NC_000015.10:83121944:A:T
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.83121945A>G, NC_000015.10:g.83121945A>T, NC_000015.9:g.83790697A>G, NC_000015.9:g.83790697A>T, NM_023003.5:c.423A>G, NM_023003.5:c.423A>T, NM_023003.4:c.423A>G, NM_023003.4:c.423A>T, NM_023003.3:c.423A>G, NM_023003.3:c.423A>T, NM_001144903.3:c.423A>G, NM_001144903.3:c.423A>T, NM_001144903.2:c.423A>G, NM_001144903.2:c.423A>T, NM_001144903.1:c.423A>G, NM_001144903.1:c.423A>T, NM_001330385.3:c.423A>G, NM_001330385.3:c.423A>T, NM_001330385.2:c.423A>G, NM_001330385.2:c.423A>T, NM_001330385.1:c.423A>G, NM_001330385.1:c.423A>T, XM_011521679.3:c.423A>G, XM_011521679.3:c.423A>T, XM_011521679.2:c.423A>G, XM_011521679.2:c.423A>T, XM_011521679.1:c.423A>G, XM_011521679.1:c.423A>T, XR_931848.3:n.459A>G, XR_931848.3:n.459A>T, XR_931848.2:n.517A>G, XR_931848.2:n.517A>T, XR_931848.1:n.629A>G, XR_931848.1:n.629A>T, NM_001353882.2:c.-22A>G, NM_001353882.2:c.-22A>T, NM_001353882.1:c.-22A>G, NM_001353882.1:c.-22A>T, NM_001353878.2:c.423A>G, NM_001353878.2:c.423A>T, NM_001353878.1:c.423A>G, NM_001353878.1:c.423A>T, NM_001353879.2:c.150A>G, NM_001353879.2:c.150A>T, NM_001353879.1:c.150A>G, NM_001353879.1:c.150A>T, NM_001353881.2:c.-22A>G, NM_001353881.2:c.-22A>T, NM_001353881.1:c.-22A>G, NM_001353881.1:c.-22A>T, NM_001353880.2:c.150A>G, NM_001353880.2:c.150A>T, NM_001353880.1:c.150A>G, NM_001353880.1:c.150A>T, NR_148560.2:n.459A>G, NR_148560.2:n.459A>T, NR_148560.1:n.618A>G, NR_148560.1:n.618A>T, XR_007064460.1:n.459A>G, XR_007064460.1:n.459A>T

Select item 144114216312.

rs1441142163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:83122770 (GRCh38)
15:83791522 (GRCh37)
Canonical SPDI:: NC_000015.10:83122769:A:T
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.83122770A>T, NC_000015.9:g.83791522A>T, NM_023003.5:c.495A>T, NM_023003.4:c.495A>T, NM_023003.3:c.495A>T, NM_001144903.3:c.495A>T, NM_001144903.2:c.495A>T, NM_001144903.1:c.495A>T, XM_011521679.3:c.495A>T, XM_011521679.2:c.495A>T, XM_011521679.1:c.495A>T, NM_001353882.2:c.51A>T, NM_001353882.1:c.51A>T, NM_001353878.2:c.495A>T, NM_001353878.1:c.495A>T, NM_001353879.2:c.222A>T, NM_001353879.1:c.222A>T, NM_001353881.2:c.51A>T, NM_001353881.1:c.51A>T, NM_001353880.2:c.222A>T, NM_001353880.1:c.222A>T, XR_007064460.1:n.531A>T

Select item 143833070913.

rs1438330709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:83124733 (GRCh38)
15:83793485 (GRCh37)
Canonical SPDI:: NC_000015.10:83124732:T:C
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83124733T>C, NC_000015.9:g.83793485T>C, NM_023003.5:c.665T>C, NM_023003.4:c.665T>C, NM_023003.3:c.665T>C, NM_001144903.3:c.665T>C, NM_001144903.2:c.665T>C, NM_001144903.1:c.665T>C, XM_011521679.3:c.665T>C, XM_011521679.2:c.665T>C, XM_011521679.1:c.665T>C, XR_931848.3:n.579T>C, XR_931848.2:n.637T>C, XR_931848.1:n.749T>C, NM_001353882.2:c.221T>C, NM_001353882.1:c.221T>C, NM_001353878.2:c.665T>C, NM_001353878.1:c.665T>C, NM_001353879.2:c.392T>C, NM_001353879.1:c.392T>C, NM_001353881.2:c.221T>C, NM_001353881.1:c.221T>C, NM_001353880.2:c.392T>C, NM_001353880.1:c.392T>C, NM_001353883.2:c.68T>C, NM_001353883.1:c.68T>C, NR_148560.2:n.579T>C, NR_148560.1:n.738T>C, NR_148561.2:n.549T>C, NR_148561.1:n.708T>C, NM_001353884.2:c.68T>C, NM_001353884.1:c.68T>C, XR_007064460.1:n.1213T>C, NP_075379.2:p.Val222Ala, NP_001138375.1:p.Val222Ala, XP_011519981.1:p.Val222Ala, NP_001340811.1:p.Val74Ala, NP_001340807.1:p.Val222Ala, NP_001340808.1:p.Val131Ala, NP_001340810.1:p.Val74Ala, NP_001340809.1:p.Val131Ala, NP_001340812.1:p.Val23Ala, NP_001340813.1:p.Val23Ala

Select item 143262875414.

rs1432628754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:83136640 (GRCh38)
15:83805392 (GRCh37)
Canonical SPDI:: NC_000015.10:83136639:A:G
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
HGVS:: NC_000015.10:g.83136640A>G, NC_000015.9:g.83805392A>G, NM_023003.5:c.1081A>G, NM_023003.4:c.1081A>G, NM_023003.3:c.1081A>G, NM_016073.4:c.*2630T>C, NM_001144903.3:c.988A>G, NM_001144903.2:c.988A>G, NM_001144903.1:c.988A>G, NM_001330385.3:c.*194A>G, NM_001330385.2:c.*194A>G, NM_001330385.1:c.*194A>G, NM_001353882.2:c.637A>G, NM_001353882.1:c.637A>G, NM_001353878.2:c.*122A>G, NM_001353878.1:c.*122A>G, NM_001353879.2:c.808A>G, NM_001353879.1:c.808A>G, NM_001353881.2:c.637A>G, NM_001353881.1:c.637A>G, NM_001353880.2:c.715A>G, NM_001353880.1:c.715A>G, NM_001353883.2:c.484A>G, NM_001353883.1:c.484A>G, NR_148560.2:n.995A>G, NR_148560.1:n.1154A>G, NR_148561.2:n.965A>G, NR_148561.1:n.1124A>G, NM_001353884.2:c.484A>G, NM_001353884.1:c.484A>G, NP_075379.2:p.Ile361Val, NP_001138375.1:p.Ile330Val, NP_001340811.1:p.Ile213Val, NP_001340808.1:p.Ile270Val, NP_001340810.1:p.Ile213Val, NP_001340809.1:p.Ile239Val, NP_001340812.1:p.Ile162Val, NP_001340813.1:p.Ile162Val

Select item 142883871715.

rs1428838717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:83119610 (GRCh38)
15:83788362 (GRCh37)
Canonical SPDI:: NC_000015.10:83119609:C:A,NC_000015.10:83119609:C:T
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000318/5 (TOMMO)
HGVS:: NC_000015.10:g.83119610C>A, NC_000015.10:g.83119610C>T, NC_000015.9:g.83788362C>A, NC_000015.9:g.83788362C>T, NM_023003.5:c.327C>A, NM_023003.5:c.327C>T, NM_023003.4:c.327C>A, NM_023003.4:c.327C>T, NM_023003.3:c.327C>A, NM_023003.3:c.327C>T, NM_001144903.3:c.327C>A, NM_001144903.3:c.327C>T, NM_001144903.2:c.327C>A, NM_001144903.2:c.327C>T, NM_001144903.1:c.327C>A, NM_001144903.1:c.327C>T, NM_001330385.3:c.327C>A, NM_001330385.3:c.327C>T, NM_001330385.2:c.327C>A, NM_001330385.2:c.327C>T, NM_001330385.1:c.327C>A, NM_001330385.1:c.327C>T, XM_011521679.3:c.327C>A, XM_011521679.3:c.327C>T, XM_011521679.2:c.327C>A, XM_011521679.2:c.327C>T, XM_011521679.1:c.327C>A, XM_011521679.1:c.327C>T, XR_931848.3:n.363C>A, XR_931848.3:n.363C>T, XR_931848.2:n.421C>A, XR_931848.2:n.421C>T, XR_931848.1:n.533C>A, XR_931848.1:n.533C>T, NM_001353882.2:c.-171C>A, NM_001353882.2:c.-171C>T, NM_001353882.1:c.-171C>A, NM_001353882.1:c.-171C>T, NM_001353878.2:c.327C>A, NM_001353878.2:c.327C>T, NM_001353878.1:c.327C>A, NM_001353878.1:c.327C>T, NM_001353879.2:c.54C>A, NM_001353879.2:c.54C>T, NM_001353879.1:c.54C>A, NM_001353879.1:c.54C>T, NM_001353881.2:c.-171C>A, NM_001353881.2:c.-171C>T, NM_001353881.1:c.-171C>A, NM_001353881.1:c.-171C>T, NM_001353880.2:c.54C>A, NM_001353880.2:c.54C>T, NM_001353880.1:c.54C>A, NM_001353880.1:c.54C>T, NM_001353883.2:c.-66C>A, NM_001353883.2:c.-66C>T, NM_001353883.1:c.-66C>A, NM_001353883.1:c.-66C>T, NR_148560.2:n.363C>A, NR_148560.2:n.363C>T, NR_148560.1:n.522C>A, NR_148560.1:n.522C>T, NR_148561.2:n.363C>A, NR_148561.2:n.363C>T, NR_148561.1:n.522C>A, NR_148561.1:n.522C>T, NM_001353884.2:c.-66C>A, NM_001353884.2:c.-66C>T, NM_001353884.1:c.-66C>A, NM_001353884.1:c.-66C>T, XR_007064460.1:n.363C>A, XR_007064460.1:n.363C>T, NP_075379.2:p.His109Gln, NP_001138375.1:p.His109Gln, NP_001317314.1:p.His109Gln, XP_011519981.1:p.His109Gln, NP_001340807.1:p.His109Gln, NP_001340808.1:p.His18Gln, NP_001340809.1:p.His18Gln

Select item 142737372216.

rs1427373722 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATCT [Show Flanks]
Chromosome:: 15:83119586 (GRCh38)
15:83788339 (GRCh37)
Canonical SPDI:: NC_000015.10:83119586:TATCT:TATCTATCT
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TATCTATCT=0./0 (ALFA)
TATC=0.000019/5 (TOPMED)
HGVS:: NC_000015.10:g.83119588_83119591dup, NC_000015.9:g.83788340_83788343dup, NM_023003.5:c.305_308dup, NM_023003.4:c.305_308dup, NM_023003.3:c.305_308dup, NM_001144903.3:c.305_308dup, NM_001144903.2:c.305_308dup, NM_001144903.1:c.305_308dup, NM_001330385.3:c.305_308dup, NM_001330385.2:c.305_308dup, NM_001330385.1:c.305_308dup, XM_011521679.3:c.305_308dup, XM_011521679.2:c.305_308dup, XM_011521679.1:c.305_308dup, XR_931848.3:n.341_344dup, XR_931848.2:n.399_402dup, XR_931848.1:n.511_514dup, NM_001353882.2:c.-193_-190dup, NM_001353882.1:c.-193_-190dup, NM_001353878.2:c.305_308dup, NM_001353878.1:c.305_308dup, NM_001353879.2:c.32_35dup, NM_001353879.1:c.32_35dup, NM_001353881.2:c.-193_-190dup, NM_001353881.1:c.-193_-190dup, NM_001353880.2:c.32_35dup, NM_001353880.1:c.32_35dup, NM_001353883.2:c.-88_-85dup, NM_001353883.1:c.-88_-85dup, NR_148560.2:n.341_344dup, NR_148560.1:n.500_503dup, NR_148561.2:n.341_344dup, NR_148561.1:n.500_503dup, NM_001353884.2:c.-88_-85dup, NM_001353884.1:c.-88_-85dup, XR_007064460.1:n.341_344dup, NP_075379.2:p.Asn104fs, NP_001138375.1:p.Asn104fs, NP_001317314.1:p.Asn104fs, XP_011519981.1:p.Asn104fs, NP_001340807.1:p.Asn104fs, NP_001340808.1:p.Asn13fs, NP_001340809.1:p.Asn13fs

Select item 142282716217.

rs1422827162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:83122774 (GRCh38)
15:83791526 (GRCh37)
Canonical SPDI:: NC_000015.10:83122773:A:G
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83122774A>G, NC_000015.9:g.83791526A>G, NM_023003.5:c.499A>G, NM_023003.4:c.499A>G, NM_023003.3:c.499A>G, NM_001144903.3:c.499A>G, NM_001144903.2:c.499A>G, NM_001144903.1:c.499A>G, XM_011521679.3:c.499A>G, XM_011521679.2:c.499A>G, XM_011521679.1:c.499A>G, NM_001353882.2:c.55A>G, NM_001353882.1:c.55A>G, NM_001353878.2:c.499A>G, NM_001353878.1:c.499A>G, NM_001353879.2:c.226A>G, NM_001353879.1:c.226A>G, NM_001353881.2:c.55A>G, NM_001353881.1:c.55A>G, NM_001353880.2:c.226A>G, NM_001353880.1:c.226A>G, XR_007064460.1:n.535A>G, NP_075379.2:p.Ile167Val, NP_001138375.1:p.Ile167Val, XP_011519981.1:p.Ile167Val, NP_001340811.1:p.Ile19Val, NP_001340807.1:p.Ile167Val, NP_001340808.1:p.Ile76Val, NP_001340810.1:p.Ile19Val, NP_001340809.1:p.Ile76Val

Select item 142243851418.

rs1422438514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:83136538 (GRCh38)
15:83805290 (GRCh37)
Canonical SPDI:: NC_000015.10:83136537:G:A
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83136538G>A, NC_000015.9:g.83805290G>A, NM_023003.5:c.979G>A, NM_023003.4:c.979G>A, NM_023003.3:c.979G>A, NM_016073.4:c.*2732C>T, NM_001144903.3:c.886G>A, NM_001144903.2:c.886G>A, NM_001144903.1:c.886G>A, NM_001330385.3:c.*92G>A, NM_001330385.2:c.*92G>A, NM_001330385.1:c.*92G>A, NM_001353882.2:c.535G>A, NM_001353882.1:c.535G>A, NM_001353878.2:c.*20G>A, NM_001353878.1:c.*20G>A, NM_001353879.2:c.706G>A, NM_001353879.1:c.706G>A, NM_001353881.2:c.535G>A, NM_001353881.1:c.535G>A, NM_001353880.2:c.613G>A, NM_001353880.1:c.613G>A, NM_001353883.2:c.382G>A, NM_001353883.1:c.382G>A, NR_148560.2:n.893G>A, NR_148560.1:n.1052G>A, NR_148561.2:n.863G>A, NR_148561.1:n.1022G>A, NM_001353884.2:c.382G>A, NM_001353884.1:c.382G>A, NP_075379.2:p.Val327Ile, NP_001138375.1:p.Val296Ile, NP_001340811.1:p.Val179Ile, NP_001340808.1:p.Val236Ile, NP_001340810.1:p.Val179Ile, NP_001340809.1:p.Val205Ile, NP_001340812.1:p.Val128Ile, NP_001340813.1:p.Val128Ile

Select item 141942392219.

rs1419423922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:83136621 (GRCh38)
15:83805373 (GRCh37)
Canonical SPDI:: NC_000015.10:83136620:C:A
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.83136621C>A, NC_000015.9:g.83805373C>A, NM_023003.5:c.1062C>A, NM_023003.4:c.1062C>A, NM_023003.3:c.1062C>A, NM_016073.4:c.*2649G>T, NM_001144903.3:c.969C>A, NM_001144903.2:c.969C>A, NM_001144903.1:c.969C>A, NM_001330385.3:c.*175C>A, NM_001330385.2:c.*175C>A, NM_001330385.1:c.*175C>A, NM_001353882.2:c.618C>A, NM_001353882.1:c.618C>A, NM_001353878.2:c.*103C>A, NM_001353878.1:c.*103C>A, NM_001353879.2:c.789C>A, NM_001353879.1:c.789C>A, NM_001353881.2:c.618C>A, NM_001353881.1:c.618C>A, NM_001353880.2:c.696C>A, NM_001353880.1:c.696C>A, NM_001353883.2:c.465C>A, NM_001353883.1:c.465C>A, NR_148560.2:n.976C>A, NR_148560.1:n.1135C>A, NR_148561.2:n.946C>A, NR_148561.1:n.1105C>A, NM_001353884.2:c.465C>A, NM_001353884.1:c.465C>A

Select item 141398095520.

rs1413980955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:83124717 (GRCh38)
15:83793469 (GRCh37)
Canonical SPDI:: NC_000015.10:83124716:G:A,NC_000015.10:83124716:G:C
Gene:: HDGFL3 (Varview), TM6SF1 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000015.10:g.83124717G>A, NC_000015.10:g.83124717G>C, NC_000015.9:g.83793469G>A, NC_000015.9:g.83793469G>C, NM_023003.5:c.649G>A, NM_023003.5:c.649G>C, NM_023003.4:c.649G>A, NM_023003.4:c.649G>C, NM_023003.3:c.649G>A, NM_023003.3:c.649G>C, NM_001144903.3:c.649G>A, NM_001144903.3:c.649G>C, NM_001144903.2:c.649G>A, NM_001144903.2:c.649G>C, NM_001144903.1:c.649G>A, NM_001144903.1:c.649G>C, XM_011521679.3:c.649G>A, XM_011521679.3:c.649G>C, XM_011521679.2:c.649G>A, XM_011521679.2:c.649G>C, XM_011521679.1:c.649G>A, XM_011521679.1:c.649G>C, XR_931848.3:n.563G>A, XR_931848.3:n.563G>C, XR_931848.2:n.621G>A, XR_931848.2:n.621G>C, XR_931848.1:n.733G>A, XR_931848.1:n.733G>C, NM_001353882.2:c.205G>A, NM_001353882.2:c.205G>C, NM_001353882.1:c.205G>A, NM_001353882.1:c.205G>C, NM_001353878.2:c.649G>A, NM_001353878.2:c.649G>C, NM_001353878.1:c.649G>A, NM_001353878.1:c.649G>C, NM_001353879.2:c.376G>A, NM_001353879.2:c.376G>C, NM_001353879.1:c.376G>A, NM_001353879.1:c.376G>C, NM_001353881.2:c.205G>A, NM_001353881.2:c.205G>C, NM_001353881.1:c.205G>A, NM_001353881.1:c.205G>C, NM_001353880.2:c.376G>A, NM_001353880.2:c.376G>C, NM_001353880.1:c.376G>A, NM_001353880.1:c.376G>C, NM_001353883.2:c.52G>A, NM_001353883.2:c.52G>C, NM_001353883.1:c.52G>A, NM_001353883.1:c.52G>C, NR_148560.2:n.563G>A, NR_148560.2:n.563G>C, NR_148560.1:n.722G>A, NR_148560.1:n.722G>C, NR_148561.2:n.533G>A, NR_148561.2:n.533G>C, NR_148561.1:n.692G>A, NR_148561.1:n.692G>C, NM_001353884.2:c.52G>A, NM_001353884.2:c.52G>C, NM_001353884.1:c.52G>A, NM_001353884.1:c.52G>C, XR_007064460.1:n.1197G>A, XR_007064460.1:n.1197G>C, NP_075379.2:p.Asp217Asn, NP_075379.2:p.Asp217His, NP_001138375.1:p.Asp217Asn, NP_001138375.1:p.Asp217His, XP_011519981.1:p.Asp217Asn, XP_011519981.1:p.Asp217His, NP_001340811.1:p.Asp69Asn, NP_001340811.1:p.Asp69His, NP_001340807.1:p.Asp217Asn, NP_001340807.1:p.Asp217His, NP_001340808.1:p.Asp126Asn, NP_001340808.1:p.Asp126His, NP_001340810.1:p.Asp69Asn, NP_001340810.1:p.Asp69His, NP_001340809.1:p.Asp126Asn, NP_001340809.1:p.Asp126His, NP_001340812.1:p.Asp18Asn, NP_001340812.1:p.Asp18His, NP_001340813.1:p.Asp18Asn, NP_001340813.1:p.Asp18His

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