SNP Links for Protein (Select 1034639767) - SNP

Links from Protein

Items: 1 to 20 of 172

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Select item 14887675171.

rs1488767517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109851823 (GRCh38)
4:110772979 (GRCh37)
Canonical SPDI:: NC_000004.12:109851822:A:G
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.109851823A>G, NC_000004.11:g.110772979A>G, NG_033249.1:g.8640A>G, NM_198506.5:c.436A>G, NM_198506.4:c.436A>G, XM_017008168.2:c.436A>G, XM_017008168.1:c.436A>G, NP_940908.3:p.Asn146Asp, XP_016863657.1:p.Asn146Asp

Select item 14877085442.

rs1487708544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:109848220 (GRCh38)
4:110769376 (GRCh37)
Canonical SPDI:: NC_000004.12:109848219:C:G,NC_000004.12:109848219:C:T
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109848220C>G, NC_000004.12:g.109848220C>T, NC_000004.11:g.110769376C>G, NC_000004.11:g.110769376C>T, NG_033249.1:g.5037C>G, NG_033249.1:g.5037C>T, NM_198506.5:c.19C>G, NM_198506.5:c.19C>T, NM_198506.4:c.19C>G, NM_198506.4:c.19C>T, NM_006583.3:c.*4023C>G, NM_006583.3:c.*4023C>T, XM_017008168.2:c.19C>G, XM_017008168.2:c.19C>T, XM_017008168.1:c.19C>G, XM_017008168.1:c.19C>T, NP_940908.3:p.Leu7Val, XP_016863657.1:p.Leu7Val

Select item 14857120743.

rs1485712074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:109851946 (GRCh38)
4:110773102 (GRCh37)
Canonical SPDI:: NC_000004.12:109851945:C:A
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109851946C>A, NC_000004.11:g.110773102C>A, NG_033249.1:g.8763C>A, NM_198506.5:c.559C>A, NM_198506.4:c.559C>A, XM_017008168.2:c.559C>A, XM_017008168.1:c.559C>A, NP_940908.3:p.Leu187Met, XP_016863657.1:p.Leu187Met

Select item 14820814024.

rs1482081402 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:109851655 (GRCh38)
4:110772812 (GRCh37)
Canonical SPDI:: NC_000004.12:109851655:A:AA
Gene:: LRIT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109851656dup, NC_000004.11:g.110772812dup, NG_033249.1:g.8473dup, NM_198506.5:c.269dup, NM_198506.4:c.269dup, XM_017008168.2:c.269dup, XM_017008168.1:c.269dup, NP_940908.3:p.Tyr90Ter, XP_016863657.1:p.Tyr90Ter

Select item 14792703155.

rs1479270315 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 4:109851664 (GRCh38)
4:110772820 (GRCh37)
Canonical SPDI:: NC_000004.12:109851663:G:A,NC_000004.12:109851663:G:C,NC_000004.12:109851663:G:T
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00007/1 (TOMMO)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000004.12:g.109851664G>A, NC_000004.12:g.109851664G>C, NC_000004.12:g.109851664G>T, NC_000004.11:g.110772820G>A, NC_000004.11:g.110772820G>C, NC_000004.11:g.110772820G>T, NG_033249.1:g.8481G>A, NG_033249.1:g.8481G>C, NG_033249.1:g.8481G>T, NM_198506.5:c.277G>A, NM_198506.5:c.277G>C, NM_198506.5:c.277G>T, NM_198506.4:c.277G>A, NM_198506.4:c.277G>C, NM_198506.4:c.277G>T, XM_017008168.2:c.277G>A, XM_017008168.2:c.277G>C, XM_017008168.2:c.277G>T, XM_017008168.1:c.277G>A, XM_017008168.1:c.277G>C, XM_017008168.1:c.277G>T, NP_940908.3:p.Val93Met, NP_940908.3:p.Val93Leu, NP_940908.3:p.Val93Leu, XP_016863657.1:p.Val93Met, XP_016863657.1:p.Val93Leu, XP_016863657.1:p.Val93Leu

Select item 14749858536.

rs1474985853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109851549 (GRCh38)
4:110772705 (GRCh37)
Canonical SPDI:: NC_000004.12:109851548:C:T
Gene:: LRIT3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.109851549C>T, NC_000004.11:g.110772705C>T, NG_033249.1:g.8366C>T, NM_198506.5:c.162C>T, NM_198506.4:c.162C>T, XM_017008168.2:c.162C>T, XM_017008168.1:c.162C>T

Select item 14735493437.

rs1473549343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:109851973 (GRCh38)
4:110773129 (GRCh37)
Canonical SPDI:: NC_000004.12:109851972:C:G,NC_000004.12:109851972:C:T
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109851973C>G, NC_000004.12:g.109851973C>T, NC_000004.11:g.110773129C>G, NC_000004.11:g.110773129C>T, NG_033249.1:g.8790C>G, NG_033249.1:g.8790C>T, NM_198506.5:c.586C>G, NM_198506.5:c.586C>T, NM_198506.4:c.586C>G, NM_198506.4:c.586C>T, XM_017008168.2:c.586C>G, XM_017008168.2:c.586C>T, XM_017008168.1:c.586C>G, XM_017008168.1:c.586C>T, NP_940908.3:p.Leu196Val, NP_940908.3:p.Leu196Phe, XP_016863657.1:p.Leu196Val, XP_016863657.1:p.Leu196Phe

Select item 14722345828.

rs1472234582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109851613 (GRCh38)
4:110772769 (GRCh37)
Canonical SPDI:: NC_000004.12:109851612:G:A
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.109851613G>A, NC_000004.11:g.110772769G>A, NG_033249.1:g.8430G>A, NM_198506.5:c.226G>A, NM_198506.4:c.226G>A, XM_017008168.2:c.226G>A, XM_017008168.1:c.226G>A, NP_940908.3:p.Ala76Thr, XP_016863657.1:p.Ala76Thr

Select item 14660828169.

rs1466082816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109848308 (GRCh38)
4:110769464 (GRCh37)
Canonical SPDI:: NC_000004.12:109848307:C:T
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109848308C>T, NC_000004.11:g.110769464C>T, NG_033249.1:g.5125C>T, NM_198506.5:c.107C>T, NM_198506.4:c.107C>T, NM_006583.3:c.*4111C>T, XM_017008168.2:c.107C>T, XM_017008168.1:c.107C>T, NP_940908.3:p.Ser36Leu, XP_016863657.1:p.Ser36Leu

Select item 146482735210.

rs1464827352 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109851739 (GRCh38)
4:110772895 (GRCh37)
Canonical SPDI:: NC_000004.12:109851738:G:A
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.109851739G>A, NC_000004.11:g.110772895G>A, NG_033249.1:g.8556G>A, NM_198506.5:c.352G>A, NM_198506.4:c.352G>A, XM_017008168.2:c.352G>A, XM_017008168.1:c.352G>A, NP_940908.3:p.Ala118Thr, XP_016863657.1:p.Ala118Thr

Select item 145872810911.

rs1458728109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:109851909 (GRCh38)
4:110773065 (GRCh37)
Canonical SPDI:: NC_000004.12:109851908:G:T
Gene:: LRIT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109851909G>T, NC_000004.11:g.110773065G>T, NG_033249.1:g.8726G>T, NM_198506.5:c.522G>T, NM_198506.4:c.522G>T, XM_017008168.2:c.522G>T, XM_017008168.1:c.522G>T, NP_940908.3:p.Glu174Asp, XP_016863657.1:p.Glu174Asp

Select item 145661175312.

rs1456611753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:109851697 (GRCh38)
4:110772853 (GRCh37)
Canonical SPDI:: NC_000004.12:109851696:C:A
Gene:: LRIT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_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.109851697C>A, NC_000004.11:g.110772853C>A, NG_033249.1:g.8514C>A, NM_198506.5:c.310C>A, NM_198506.4:c.310C>A, XM_017008168.2:c.310C>A, XM_017008168.1:c.310C>A, NP_940908.3:p.Leu104Met, XP_016863657.1:p.Leu104Met

Select item 145385452713.

rs1453854527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109851761 (GRCh38)
4:110772917 (GRCh37)
Canonical SPDI:: NC_000004.12:109851760:T:C
Gene:: LRIT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.109851761T>C, NC_000004.11:g.110772917T>C, NG_033249.1:g.8578T>C, NM_198506.5:c.374T>C, NM_198506.4:c.374T>C, XM_017008168.2:c.374T>C, XM_017008168.1:c.374T>C, NP_940908.3:p.Leu125Pro, XP_016863657.1:p.Leu125Pro

Select item 144977972414.

rs1449779724 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109851509 (GRCh38)
4:110772665 (GRCh37)
Canonical SPDI:: NC_000004.12:109851508:T:C
Gene:: LRIT3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.109851509T>C, NC_000004.11:g.110772665T>C, NG_033249.1:g.8326T>C, NM_198506.5:c.122T>C, NM_198506.4:c.122T>C, XM_017008168.2:c.122T>C, XM_017008168.1:c.122T>C, NP_940908.3:p.Val41Ala, XP_016863657.1:p.Val41Ala

Select item 144952277115.

rs1449522771 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109851924 (GRCh38)
4:110773080 (GRCh37)
Canonical SPDI:: NC_000004.12:109851923:A:G
Gene:: LRIT3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109851924A>G, NC_000004.11:g.110773080A>G, NG_033249.1:g.8741A>G, NM_198506.5:c.537A>G, NM_198506.4:c.537A>G, XM_017008168.2:c.537A>G, XM_017008168.1:c.537A>G

Select item 144138495416.

rs1441384954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109851838 (GRCh38)
4:110772994 (GRCh37)
Canonical SPDI:: NC_000004.12:109851837:T:C
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.109851838T>C, NC_000004.11:g.110772994T>C, NG_033249.1:g.8655T>C, NM_198506.5:c.451T>C, NM_198506.4:c.451T>C, XM_017008168.2:c.451T>C, XM_017008168.1:c.451T>C, NP_940908.3:p.Tyr151His, XP_016863657.1:p.Tyr151His

Select item 143709366017.

rs1437093660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:109851808 (GRCh38)
4:110772964 (GRCh37)
Canonical SPDI:: NC_000004.12:109851807:A:G
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.109851808A>G, NC_000004.11:g.110772964A>G, NG_033249.1:g.8625A>G, NM_198506.5:c.421A>G, NM_198506.4:c.421A>G, XM_017008168.2:c.421A>G, XM_017008168.1:c.421A>G, NP_940908.3:p.Ile141Val, XP_016863657.1:p.Ile141Val

Select item 143514242218.

rs1435142422 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:109851515 (GRCh38)
4:110772671 (GRCh37)
Canonical SPDI:: NC_000004.12:109851514:G:A
Gene:: LRIT3 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_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_000004.12:g.109851515G>A, NC_000004.11:g.110772671G>A, NG_033249.1:g.8332G>A, NM_198506.5:c.128G>A, NM_198506.4:c.128G>A, XM_017008168.2:c.128G>A, XM_017008168.1:c.128G>A, NP_940908.3:p.Cys43Tyr, XP_016863657.1:p.Cys43Tyr

Select item 143415206919.

rs1434152069 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:109851715 (GRCh38)
4:110772871 (GRCh37)
Canonical SPDI:: NC_000004.12:109851714:T:C
Gene:: LRIT3 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.109851715T>C, NC_000004.11:g.110772871T>C, NG_033249.1:g.8532T>C, NM_198506.5:c.328T>C, NM_198506.4:c.328T>C, XM_017008168.2:c.328T>C, XM_017008168.1:c.328T>C

Select item 143000911520.

rs1430009115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:109851679 (GRCh38)
4:110772835 (GRCh37)
Canonical SPDI:: NC_000004.12:109851678:C:T
Gene:: LRIT3 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000004.12:g.109851679C>T, NC_000004.11:g.110772835C>T, NG_033249.1:g.8496C>T, NM_198506.5:c.292C>T, NM_198506.4:c.292C>T, XM_017008168.2:c.292C>T, XM_017008168.1:c.292C>T, NP_940908.3:p.Pro98Ser, XP_016863657.1:p.Pro98Ser

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