SNP Links for Protein (Select 767968175) - SNP

Links from Protein

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Select item 14900115271.

rs1490011527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:68390009 (GRCh38)
11:68157477 (GRCh37)
Canonical SPDI:: NC_000011.10:68390008:A:C
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000011.10:g.68390009A>C, NC_000011.9:g.68157477A>C, NG_015835.2:g.82370A>C, NM_002335.4:c.1541A>C, NM_002335.3:c.1541A>C, NM_002335.2:c.1541A>C, XM_005273994.3:c.1541A>C, XM_005273994.2:c.1541A>C, XM_005273994.1:c.1541A>C, XM_011545031.2:c.1568A>C, XM_011545031.1:c.1568A>C, XM_011545029.2:c.1568A>C, XM_011545029.1:c.1568A>C, XM_011545030.2:c.1568A>C, XM_011545030.1:c.1568A>C, XR_001747874.2:n.2037A>C, XR_001747874.1:n.1583A>C, XM_047426949.1:c.1568A>C, XM_047426948.1:c.1568A>C, XM_047426950.1:c.1568A>C, NP_002326.2:p.Glu514Ala, XP_005274051.1:p.Glu514Ala, XP_011543333.1:p.Glu523Ala, XP_011543331.1:p.Glu523Ala, XP_011543332.1:p.Glu523Ala, XP_047282905.1:p.Glu523Ala, XP_047282904.1:p.Glu523Ala, XP_047282906.1:p.Glu523Ala

Select item 14895696712.

rs1489569671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68386346 (GRCh38)
11:68153814 (GRCh37)
Canonical SPDI:: NC_000011.10:68386345:G:A
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.68386346G>A, NC_000011.9:g.68153814G>A, NG_015835.2:g.78707G>A, NM_002335.4:c.1046G>A, NM_002335.3:c.1046G>A, NM_002335.2:c.1046G>A, NM_001291902.2:c.-720G>A, NM_001291902.1:c.-720G>A, XM_005273994.3:c.1046G>A, XM_005273994.2:c.1046G>A, XM_005273994.1:c.1046G>A, XM_011545031.2:c.1073G>A, XM_011545031.1:c.1073G>A, XM_011545029.2:c.1073G>A, XM_011545029.1:c.1073G>A, XM_011545030.2:c.1073G>A, XM_011545030.1:c.1073G>A, XR_001747874.2:n.1542G>A, XR_001747874.1:n.1088G>A, XM_047426949.1:c.1073G>A, XM_047426948.1:c.1073G>A, XM_047426950.1:c.1073G>A, NP_002326.2:p.Arg349Gln, XP_005274051.1:p.Arg349Gln, XP_011543333.1:p.Arg358Gln, XP_011543331.1:p.Arg358Gln, XP_011543332.1:p.Arg358Gln, XP_047282905.1:p.Arg358Gln, XP_047282904.1:p.Arg358Gln, XP_047282906.1:p.Arg358Gln

Select item 14893905943.

rs1489390594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:68403597 (GRCh38)
11:68171065 (GRCh37)
Canonical SPDI:: NC_000011.10:68403596:A:C,NC_000011.10:68403596:A:G
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
C=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.68403597A>C, NC_000011.10:g.68403597A>G, NC_000011.9:g.68171065A>C, NC_000011.9:g.68171065A>G, NG_015835.2:g.95958A>C, NG_015835.2:g.95958A>G, NM_002335.4:c.1699A>C, NM_002335.4:c.1699A>G, NM_002335.3:c.1699A>C, NM_002335.3:c.1699A>G, NM_002335.2:c.1699A>C, NM_002335.2:c.1699A>G, NM_001291902.2:c.-239A>C, NM_001291902.2:c.-239A>G, NM_001291902.1:c.-239A>C, NM_001291902.1:c.-239A>G, XM_005273994.3:c.1699A>C, XM_005273994.3:c.1699A>G, XM_005273994.2:c.1699A>C, XM_005273994.2:c.1699A>G, XM_005273994.1:c.1699A>C, XM_005273994.1:c.1699A>G, XM_011545031.2:c.1726A>C, XM_011545031.2:c.1726A>G, XM_011545031.1:c.1726A>C, XM_011545031.1:c.1726A>G, XM_011545029.2:c.1726A>C, XM_011545029.2:c.1726A>G, XM_011545029.1:c.1726A>C, XM_011545029.1:c.1726A>G, XM_011545030.2:c.1726A>C, XM_011545030.2:c.1726A>G, XM_011545030.1:c.1726A>C, XM_011545030.1:c.1726A>G, XR_001747874.2:n.2195A>C, XR_001747874.2:n.2195A>G, XR_001747874.1:n.1741A>C, XR_001747874.1:n.1741A>G, XM_047426949.1:c.1726A>C, XM_047426949.1:c.1726A>G, XM_047426948.1:c.1726A>C, XM_047426948.1:c.1726A>G, XM_047426950.1:c.1726A>C, XM_047426950.1:c.1726A>G, NP_002326.2:p.Ser567Arg, NP_002326.2:p.Ser567Gly, XP_005274051.1:p.Ser567Arg, XP_005274051.1:p.Ser567Gly, XP_011543333.1:p.Ser576Arg, XP_011543333.1:p.Ser576Gly, XP_011543331.1:p.Ser576Arg, XP_011543331.1:p.Ser576Gly, XP_011543332.1:p.Ser576Arg, XP_011543332.1:p.Ser576Gly, XP_047282905.1:p.Ser576Arg, XP_047282905.1:p.Ser576Gly, XP_047282904.1:p.Ser576Arg, XP_047282904.1:p.Ser576Gly, XP_047282906.1:p.Ser576Arg, XP_047282906.1:p.Ser576Gly

Select item 14889306554.

rs1488930655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68446468 (GRCh38)
11:68213936 (GRCh37)
Canonical SPDI:: NC_000011.10:68446467:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.68446468C>T, NC_000011.9:g.68213936C>T, NG_015835.2:g.138829C>T, NM_002335.4:c.4521C>T, NM_002335.3:c.4521C>T, NM_002335.2:c.4521C>T, NM_001291902.2:c.2778C>T, NM_001291902.1:c.2778C>T, XM_005273994.3:c.4635C>T, XM_005273994.2:c.4635C>T, XM_005273994.1:c.4635C>T, XM_011545031.2:c.4678C>T, XM_011545031.1:c.4678C>T, XM_011545029.2:c.4662C>T, XM_011545029.1:c.4662C>T, XM_011545030.2:c.4548C>T, XM_011545030.1:c.4548C>T, XM_017017735.2:c.2892C>T, XM_017017735.1:c.2892C>T, XM_017017736.2:c.2175C>T, XM_017017736.1:c.2175C>T, XM_047426949.1:c.4678C>T, XM_047426948.1:c.4662C>T, XM_047426950.1:c.4548C>T, XP_011543333.1:p.Pro1560Ser, XP_047282905.1:p.Pro1560Ser

Select item 14888124595.

rs1488812459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:68425195 (GRCh38)
11:68192663 (GRCh37)
Canonical SPDI:: NC_000011.10:68425194:C:A
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.68425195C>A, NC_000011.9:g.68192663C>A, NG_015835.2:g.117556C>A, NM_002335.4:c.3330C>A, NM_002335.3:c.3330C>A, NM_002335.2:c.3330C>A, NM_001291902.2:c.1587C>A, NM_001291902.1:c.1587C>A, XM_005273994.3:c.3330C>A, XM_005273994.2:c.3330C>A, XM_005273994.1:c.3330C>A, XM_011545031.2:c.3357C>A, XM_011545031.1:c.3357C>A, XM_011545029.2:c.3357C>A, XM_011545029.1:c.3357C>A, XM_011545030.2:c.3357C>A, XM_011545030.1:c.3357C>A, XM_017017735.2:c.1587C>A, XM_017017735.1:c.1587C>A, XM_017017736.2:c.870C>A, XM_017017736.1:c.870C>A, XM_047426949.1:c.3357C>A, XM_047426948.1:c.3357C>A, XM_047426950.1:c.3357C>A

Select item 14884189536.

rs1488418953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68403668 (GRCh38)
11:68171136 (GRCh37)
Canonical SPDI:: NC_000011.10:68403667:G:A
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000036/9 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68403668G>A, NC_000011.9:g.68171136G>A, NG_015835.2:g.96029G>A, NM_002335.4:c.1770G>A, NM_002335.3:c.1770G>A, NM_002335.2:c.1770G>A, NM_001291902.2:c.-168G>A, NM_001291902.1:c.-168G>A, XM_005273994.3:c.1770G>A, XM_005273994.2:c.1770G>A, XM_005273994.1:c.1770G>A, XM_011545031.2:c.1797G>A, XM_011545031.1:c.1797G>A, XM_011545029.2:c.1797G>A, XM_011545029.1:c.1797G>A, XM_011545030.2:c.1797G>A, XM_011545030.1:c.1797G>A, XR_001747874.2:n.2266G>A, XR_001747874.1:n.1812G>A, XM_047426949.1:c.1797G>A, XM_047426948.1:c.1797G>A, XM_047426950.1:c.1797G>A

Select item 14875830447.

rs1487583044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:68357830 (GRCh38)
11:68125298 (GRCh37)
Canonical SPDI:: NC_000011.10:68357829:C:A
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68357830C>A, NC_000011.9:g.68125298C>A, NG_015835.2:g.50191C>A, NM_002335.4:c.669C>A, NM_002335.3:c.669C>A, NM_002335.2:c.669C>A, NM_001291902.2:c.-1097C>A, NM_001291902.1:c.-1097C>A, XM_005273994.3:c.669C>A, XM_005273994.2:c.669C>A, XM_005273994.1:c.669C>A, XM_011545031.2:c.696C>A, XM_011545031.1:c.696C>A, XM_011545029.2:c.696C>A, XM_011545029.1:c.696C>A, XM_011545030.2:c.696C>A, XM_011545030.1:c.696C>A, XR_001747874.2:n.1165C>A, XR_001747874.1:n.711C>A, XM_047426949.1:c.696C>A, XM_047426948.1:c.696C>A, XM_047426950.1:c.696C>A, NP_002326.2:p.Asn223Lys, XP_005274051.1:p.Asn223Lys, XP_011543333.1:p.Asn232Lys, XP_011543331.1:p.Asn232Lys, XP_011543332.1:p.Asn232Lys, XP_047282905.1:p.Asn232Lys, XP_047282904.1:p.Asn232Lys, XP_047282906.1:p.Asn232Lys

Select item 14873572438.

rs1487357243 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:68411503 (GRCh38)
11:68178971 (GRCh37)
Canonical SPDI:: NC_000011.10:68411502:T:C
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.68411503T>C, NC_000011.9:g.68178971T>C, NG_015835.2:g.103864T>C, NM_002335.4:c.2386T>C, NM_002335.3:c.2386T>C, NM_002335.2:c.2386T>C, NM_001291902.2:c.643T>C, NM_001291902.1:c.643T>C, XM_005273994.3:c.2386T>C, XM_005273994.2:c.2386T>C, XM_005273994.1:c.2386T>C, XM_011545031.2:c.2413T>C, XM_011545031.1:c.2413T>C, XM_011545029.2:c.2413T>C, XM_011545029.1:c.2413T>C, XM_011545030.2:c.2413T>C, XM_011545030.1:c.2413T>C, XM_017017735.2:c.643T>C, XM_017017735.1:c.643T>C, XR_001747874.2:n.2882T>C, XR_001747874.1:n.2428T>C, XM_047426949.1:c.2413T>C, XM_047426948.1:c.2413T>C, XM_047426950.1:c.2413T>C, NP_002326.2:p.Cys796Arg, NP_001278831.1:p.Cys215Arg, XP_005274051.1:p.Cys796Arg, XP_011543333.1:p.Cys805Arg, XP_011543331.1:p.Cys805Arg, XP_011543332.1:p.Cys805Arg, XP_016873224.1:p.Cys215Arg, XP_047282905.1:p.Cys805Arg, XP_047282904.1:p.Cys805Arg, XP_047282906.1:p.Cys805Arg

Select item 14870520959.

rs1487052095 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68386671 (GRCh38)
11:68154139 (GRCh37)
Canonical SPDI:: NC_000011.10:68386670:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.68386671C>T, NC_000011.9:g.68154139C>T, NG_015835.2:g.79032C>T, NM_002335.4:c.1371C>T, NM_002335.3:c.1371C>T, NM_002335.2:c.1371C>T, NM_001291902.2:c.-395C>T, NM_001291902.1:c.-395C>T, XM_005273994.3:c.1371C>T, XM_005273994.2:c.1371C>T, XM_005273994.1:c.1371C>T, XM_011545031.2:c.1398C>T, XM_011545031.1:c.1398C>T, XM_011545029.2:c.1398C>T, XM_011545029.1:c.1398C>T, XM_011545030.2:c.1398C>T, XM_011545030.1:c.1398C>T, XR_001747874.2:n.1867C>T, XR_001747874.1:n.1413C>T, XM_047426949.1:c.1398C>T, XM_047426948.1:c.1398C>T, XM_047426950.1:c.1398C>T

Select item 148692467610.

rs1486924676 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68347973 (GRCh38)
11:68115441 (GRCh37)
Canonical SPDI:: NC_000011.10:68347972:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000071/10 (GnomAD)
HGVS:: NC_000011.10:g.68347973C>T, NC_000011.9:g.68115441C>T, NG_015835.2:g.40334C>T, NM_002335.4:c.218C>T, NM_002335.3:c.218C>T, NM_002335.2:c.218C>T, NM_001291902.2:c.-1548C>T, NM_001291902.1:c.-1548C>T, XM_005273994.3:c.218C>T, XM_005273994.2:c.218C>T, XM_005273994.1:c.218C>T, XM_011545031.2:c.245C>T, XM_011545031.1:c.245C>T, XM_011545029.2:c.245C>T, XM_011545029.1:c.245C>T, XM_011545030.2:c.245C>T, XM_011545030.1:c.245C>T, XR_001747874.2:n.714C>T, XR_001747874.1:n.260C>T, XM_047426949.1:c.245C>T, XM_047426948.1:c.245C>T, XM_047426950.1:c.245C>T, NP_002326.2:p.Ser73Phe, XP_005274051.1:p.Ser73Phe, XP_011543333.1:p.Ser82Phe, XP_011543331.1:p.Ser82Phe, XP_011543332.1:p.Ser82Phe, XP_047282905.1:p.Ser82Phe, XP_047282904.1:p.Ser82Phe, XP_047282906.1:p.Ser82Phe

Select item 148601782011.

rs1486017820 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:68348034 (GRCh38)
11:68115502 (GRCh37)
Canonical SPDI:: NC_000011.10:68348033:C:A,NC_000011.10:68348033:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.0007/2 (KOREAN)
HGVS:: NC_000011.10:g.68348034C>A, NC_000011.10:g.68348034C>T, NC_000011.9:g.68115502C>A, NC_000011.9:g.68115502C>T, NG_015835.2:g.40395C>A, NG_015835.2:g.40395C>T, NM_002335.4:c.279C>A, NM_002335.4:c.279C>T, NM_002335.3:c.279C>A, NM_002335.3:c.279C>T, NM_002335.2:c.279C>A, NM_002335.2:c.279C>T, NM_001291902.2:c.-1487C>A, NM_001291902.2:c.-1487C>T, NM_001291902.1:c.-1487C>A, NM_001291902.1:c.-1487C>T, XM_005273994.3:c.279C>A, XM_005273994.3:c.279C>T, XM_005273994.2:c.279C>A, XM_005273994.2:c.279C>T, XM_005273994.1:c.279C>A, XM_005273994.1:c.279C>T, XM_011545031.2:c.306C>A, XM_011545031.2:c.306C>T, XM_011545031.1:c.306C>A, XM_011545031.1:c.306C>T, XM_011545029.2:c.306C>A, XM_011545029.2:c.306C>T, XM_011545029.1:c.306C>A, XM_011545029.1:c.306C>T, XM_011545030.2:c.306C>A, XM_011545030.2:c.306C>T, XM_011545030.1:c.306C>A, XM_011545030.1:c.306C>T, XR_001747874.2:n.775C>A, XR_001747874.2:n.775C>T, XR_001747874.1:n.321C>A, XR_001747874.1:n.321C>T, XM_047426949.1:c.306C>A, XM_047426949.1:c.306C>T, XM_047426948.1:c.306C>A, XM_047426948.1:c.306C>T, XM_047426950.1:c.306C>A, XM_047426950.1:c.306C>T, NP_002326.2:p.Asn93Lys, XP_005274051.1:p.Asn93Lys, XP_011543333.1:p.Asn102Lys, XP_011543331.1:p.Asn102Lys, XP_011543332.1:p.Asn102Lys, XP_047282905.1:p.Asn102Lys, XP_047282904.1:p.Asn102Lys, XP_047282906.1:p.Asn102Lys

Select item 148553696312.

rs1485536963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68363795 (GRCh38)
11:68131263 (GRCh37)
Canonical SPDI:: NC_000011.10:68363794:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.68363795C>T, NC_000011.9:g.68131263C>T, NG_015835.2:g.56156C>T, NM_002335.4:c.735C>T, NM_002335.3:c.735C>T, NM_002335.2:c.735C>T, NM_001291902.2:c.-1031C>T, NM_001291902.1:c.-1031C>T, XM_005273994.3:c.735C>T, XM_005273994.2:c.735C>T, XM_005273994.1:c.735C>T, XM_011545031.2:c.762C>T, XM_011545031.1:c.762C>T, XM_011545029.2:c.762C>T, XM_011545029.1:c.762C>T, XM_011545030.2:c.762C>T, XM_011545030.1:c.762C>T, XR_001747874.2:n.1231C>T, XR_001747874.1:n.777C>T, XM_047426949.1:c.762C>T, XM_047426948.1:c.762C>T, XM_047426950.1:c.762C>T

Select item 148421064813.

rs1484210648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68416470 (GRCh38)
11:68183938 (GRCh37)
Canonical SPDI:: NC_000011.10:68416469:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.68416470C>T, NC_000011.9:g.68183938C>T, NG_015835.2:g.108831C>T, NM_002335.4:c.2970C>T, NM_002335.3:c.2970C>T, NM_002335.2:c.2970C>T, NM_001291902.2:c.1227C>T, NM_001291902.1:c.1227C>T, XM_005273994.3:c.2970C>T, XM_005273994.2:c.2970C>T, XM_005273994.1:c.2970C>T, XM_011545031.2:c.2997C>T, XM_011545031.1:c.2997C>T, XM_011545029.2:c.2997C>T, XM_011545029.1:c.2997C>T, XM_011545030.2:c.2997C>T, XM_011545030.1:c.2997C>T, XM_017017735.2:c.1227C>T, XM_017017735.1:c.1227C>T, XM_017017736.2:c.510C>T, XM_017017736.1:c.510C>T, XM_047426949.1:c.2997C>T, XM_047426948.1:c.2997C>T, XM_047426950.1:c.2997C>T

Select item 148322569414.

rs1483225694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68423612 (GRCh38)
11:68191080 (GRCh37)
Canonical SPDI:: NC_000011.10:68423611:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68423612C>T, NC_000011.9:g.68191080C>T, NG_015835.2:g.115973C>T, NM_002335.4:c.3151C>T, NM_002335.3:c.3151C>T, NM_002335.2:c.3151C>T, NM_001291902.2:c.1408C>T, NM_001291902.1:c.1408C>T, XM_005273994.3:c.3151C>T, XM_005273994.2:c.3151C>T, XM_005273994.1:c.3151C>T, XM_011545031.2:c.3178C>T, XM_011545031.1:c.3178C>T, XM_011545029.2:c.3178C>T, XM_011545029.1:c.3178C>T, XM_011545030.2:c.3178C>T, XM_011545030.1:c.3178C>T, XM_017017735.2:c.1408C>T, XM_017017735.1:c.1408C>T, XM_017017736.2:c.691C>T, XM_017017736.1:c.691C>T, XM_047426949.1:c.3178C>T, XM_047426948.1:c.3178C>T, XM_047426950.1:c.3178C>T, NP_002326.2:p.His1051Tyr, NP_001278831.1:p.His470Tyr, XP_005274051.1:p.His1051Tyr, XP_011543333.1:p.His1060Tyr, XP_011543331.1:p.His1060Tyr, XP_011543332.1:p.His1060Tyr, XP_016873224.1:p.His470Tyr, XP_016873225.1:p.His231Tyr, XP_047282905.1:p.His1060Tyr, XP_047282904.1:p.His1060Tyr, XP_047282906.1:p.His1060Tyr

Select item 148285259515.

rs1482852595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:68411444 (GRCh38)
11:68178912 (GRCh37)
Canonical SPDI:: NC_000011.10:68411443:A:C,NC_000011.10:68411443:A:G
Gene:: LRP5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68411444A>C, NC_000011.10:g.68411444A>G, NC_000011.9:g.68178912A>C, NC_000011.9:g.68178912A>G, NG_015835.2:g.103805A>C, NG_015835.2:g.103805A>G, NM_002335.4:c.2327A>C, NM_002335.4:c.2327A>G, NM_002335.3:c.2327A>C, NM_002335.3:c.2327A>G, NM_002335.2:c.2327A>C, NM_002335.2:c.2327A>G, NM_001291902.2:c.584A>C, NM_001291902.2:c.584A>G, NM_001291902.1:c.584A>C, NM_001291902.1:c.584A>G, XM_005273994.3:c.2327A>C, XM_005273994.3:c.2327A>G, XM_005273994.2:c.2327A>C, XM_005273994.2:c.2327A>G, XM_005273994.1:c.2327A>C, XM_005273994.1:c.2327A>G, XM_011545031.2:c.2354A>C, XM_011545031.2:c.2354A>G, XM_011545031.1:c.2354A>C, XM_011545031.1:c.2354A>G, XM_011545029.2:c.2354A>C, XM_011545029.2:c.2354A>G, XM_011545029.1:c.2354A>C, XM_011545029.1:c.2354A>G, XM_011545030.2:c.2354A>C, XM_011545030.2:c.2354A>G, XM_011545030.1:c.2354A>C, XM_011545030.1:c.2354A>G, XM_017017735.2:c.584A>C, XM_017017735.2:c.584A>G, XM_017017735.1:c.584A>C, XM_017017735.1:c.584A>G, XR_001747874.2:n.2823A>C, XR_001747874.2:n.2823A>G, XR_001747874.1:n.2369A>C, XR_001747874.1:n.2369A>G, XM_047426949.1:c.2354A>C, XM_047426949.1:c.2354A>G, XM_047426948.1:c.2354A>C, XM_047426948.1:c.2354A>G, XM_047426950.1:c.2354A>C, XM_047426950.1:c.2354A>G, NP_002326.2:p.Tyr776Ser, NP_002326.2:p.Tyr776Cys, NP_001278831.1:p.Tyr195Ser, NP_001278831.1:p.Tyr195Cys, XP_005274051.1:p.Tyr776Ser, XP_005274051.1:p.Tyr776Cys, XP_011543333.1:p.Tyr785Ser, XP_011543333.1:p.Tyr785Cys, XP_011543331.1:p.Tyr785Ser, XP_011543331.1:p.Tyr785Cys, XP_011543332.1:p.Tyr785Ser, XP_011543332.1:p.Tyr785Cys, XP_016873224.1:p.Tyr195Ser, XP_016873224.1:p.Tyr195Cys, XP_047282905.1:p.Tyr785Ser, XP_047282905.1:p.Tyr785Cys, XP_047282904.1:p.Tyr785Ser, XP_047282904.1:p.Tyr785Cys, XP_047282906.1:p.Tyr785Ser, XP_047282906.1:p.Tyr785Cys

Select item 148132031116.

rs1481320311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68386404 (GRCh38)
11:68153872 (GRCh37)
Canonical SPDI:: NC_000011.10:68386403:G:A
Gene:: LRP5 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_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_000011.10:g.68386404G>A, NC_000011.9:g.68153872G>A, NG_015835.2:g.78765G>A, NM_002335.4:c.1104G>A, NM_002335.3:c.1104G>A, NM_002335.2:c.1104G>A, NM_001291902.2:c.-662G>A, NM_001291902.1:c.-662G>A, XM_005273994.3:c.1104G>A, XM_005273994.2:c.1104G>A, XM_005273994.1:c.1104G>A, XM_011545031.2:c.1131G>A, XM_011545031.1:c.1131G>A, XM_011545029.2:c.1131G>A, XM_011545029.1:c.1131G>A, XM_011545030.2:c.1131G>A, XM_011545030.1:c.1131G>A, XR_001747874.2:n.1600G>A, XR_001747874.1:n.1146G>A, XM_047426949.1:c.1131G>A, XM_047426948.1:c.1131G>A, XM_047426950.1:c.1131G>A

Select item 148125225217.

rs1481252252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68406532 (GRCh38)
11:68174000 (GRCh37)
Canonical SPDI:: NC_000011.10:68406531:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68406532C>T, NC_000011.9:g.68174000C>T, NG_015835.2:g.98893C>T, NM_002335.4:c.1810C>T, NM_002335.3:c.1810C>T, NM_002335.2:c.1810C>T, NM_001291902.2:c.67C>T, NM_001291902.1:c.67C>T, XM_005273994.3:c.1810C>T, XM_005273994.2:c.1810C>T, XM_005273994.1:c.1810C>T, XM_011545031.2:c.1837C>T, XM_011545031.1:c.1837C>T, XM_011545029.2:c.1837C>T, XM_011545029.1:c.1837C>T, XM_011545030.2:c.1837C>T, XM_011545030.1:c.1837C>T, XM_017017735.2:c.67C>T, XM_017017735.1:c.67C>T, XR_001747874.2:n.2306C>T, XR_001747874.1:n.1852C>T, XM_047426949.1:c.1837C>T, XM_047426948.1:c.1837C>T, XM_047426950.1:c.1837C>T, NP_002326.2:p.Pro604Ser, NP_001278831.1:p.Pro23Ser, XP_005274051.1:p.Pro604Ser, XP_011543333.1:p.Pro613Ser, XP_011543331.1:p.Pro613Ser, XP_011543332.1:p.Pro613Ser, XP_016873224.1:p.Pro23Ser, XP_047282905.1:p.Pro613Ser, XP_047282904.1:p.Pro613Ser, XP_047282906.1:p.Pro613Ser

Select item 148025732318.

rs1480257323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:68403604 (GRCh38)
11:68171072 (GRCh37)
Canonical SPDI:: NC_000011.10:68403603:A:G
Gene:: LRP5 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.68403604A>G, NC_000011.9:g.68171072A>G, NG_015835.2:g.95965A>G, NM_002335.4:c.1706A>G, NM_002335.3:c.1706A>G, NM_002335.2:c.1706A>G, NM_001291902.2:c.-232A>G, NM_001291902.1:c.-232A>G, XM_005273994.3:c.1706A>G, XM_005273994.2:c.1706A>G, XM_005273994.1:c.1706A>G, XM_011545031.2:c.1733A>G, XM_011545031.1:c.1733A>G, XM_011545029.2:c.1733A>G, XM_011545029.1:c.1733A>G, XM_011545030.2:c.1733A>G, XM_011545030.1:c.1733A>G, XR_001747874.2:n.2202A>G, XR_001747874.1:n.1748A>G, XM_047426949.1:c.1733A>G, XM_047426948.1:c.1733A>G, XM_047426950.1:c.1733A>G, NP_002326.2:p.Glu569Gly, XP_005274051.1:p.Glu569Gly, XP_011543333.1:p.Glu578Gly, XP_011543331.1:p.Glu578Gly, XP_011543332.1:p.Glu578Gly, XP_047282905.1:p.Glu578Gly, XP_047282904.1:p.Glu578Gly, XP_047282906.1:p.Glu578Gly

Select item 147798341719.

rs1477983417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:68413726 (GRCh38)
11:68181194 (GRCh37)
Canonical SPDI:: NC_000011.10:68413725:C:T
Gene:: LRP5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.68413726C>T, NC_000011.9:g.68181194C>T, NG_015835.2:g.106087C>T, NM_002335.4:c.2541C>T, NM_002335.3:c.2541C>T, NM_002335.2:c.2541C>T, NM_001291902.2:c.798C>T, NM_001291902.1:c.798C>T, XM_005273994.3:c.2541C>T, XM_005273994.2:c.2541C>T, XM_005273994.1:c.2541C>T, XM_011545031.2:c.2568C>T, XM_011545031.1:c.2568C>T, XM_011545029.2:c.2568C>T, XM_011545029.1:c.2568C>T, XM_011545030.2:c.2568C>T, XM_011545030.1:c.2568C>T, XM_017017735.2:c.798C>T, XM_017017735.1:c.798C>T, XR_001747874.2:n.3261C>T, XR_001747874.1:n.2807C>T, XM_017017736.2:c.81C>T, XM_017017736.1:c.81C>T, XM_047426949.1:c.2568C>T, XM_047426948.1:c.2568C>T, XM_047426950.1:c.2568C>T

Select item 147742511720.

rs1477425117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:68406810 (GRCh38)
11:68174278 (GRCh37)
Canonical SPDI:: NC_000011.10:68406809:G:A
Gene:: LRP5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.68406810G>A, NC_000011.9:g.68174278G>A, NG_015835.2:g.99171G>A, NM_002335.4:c.2088G>A, NM_002335.3:c.2088G>A, NM_002335.2:c.2088G>A, NM_001291902.2:c.345G>A, NM_001291902.1:c.345G>A, XM_005273994.3:c.2088G>A, XM_005273994.2:c.2088G>A, XM_005273994.1:c.2088G>A, XM_011545031.2:c.2115G>A, XM_011545031.1:c.2115G>A, XM_011545029.2:c.2115G>A, XM_011545029.1:c.2115G>A, XM_011545030.2:c.2115G>A, XM_011545030.1:c.2115G>A, XM_017017735.2:c.345G>A, XM_017017735.1:c.345G>A, XR_001747874.2:n.2584G>A, XR_001747874.1:n.2130G>A, XM_047426949.1:c.2115G>A, XM_047426948.1:c.2115G>A, XM_047426950.1:c.2115G>A

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