SNP Links for Protein (Select 767934744) - SNP

Links from Protein

Items: 1 to 20 of 534

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Select item 14906828761.

rs1490682876 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:36136325 (GRCh38)
5:36136427 (GRCh37)
Canonical SPDI:: NC_000005.10:36136324:A:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_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_000005.10:g.36136325A>C, NC_000005.9:g.36136427A>C, XM_011514162.3:c.731T>G, XM_011514162.2:c.731T>G, XM_011514162.1:c.731T>G, NM_001007527.2:c.731T>G, NM_001007527.1:c.731T>G, XM_047417877.1:c.-105T>G, XP_011512464.1:p.Leu244Trp, NP_001007528.1:p.Leu244Trp

Select item 14881625822.

rs1488162582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36136425 (GRCh38)
5:36136527 (GRCh37)
Canonical SPDI:: NC_000005.10:36136424:G:A
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,stop_gained,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36136425G>A, NC_000005.9:g.36136527G>A, XM_011514162.3:c.631C>T, XM_011514162.2:c.631C>T, XM_011514162.1:c.631C>T, NM_001007527.2:c.631C>T, NM_001007527.1:c.631C>T, XP_011512464.1:p.Arg211Ter, NP_001007528.1:p.Arg211Ter

Select item 14867266283.

rs1486726628 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:36109951 (GRCh38)
5:36110053 (GRCh37)
Canonical SPDI:: NC_000005.10:36109950:T:A
Gene:: LMBRD2 (Varview)
Functional Consequence:: synonymous_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_000005.10:g.36109951T>A, NC_000005.9:g.36110053T>A, XM_011514162.3:c.1785A>T, XM_011514162.2:c.1785A>T, XM_011514162.1:c.1785A>T, NM_001007527.2:c.1785A>T, NM_001007527.1:c.1785A>T, XM_047417877.1:c.1122A>T

Select item 14838168084.

rs1483816808 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:36137308 (GRCh38)
5:36137410 (GRCh37)
Canonical SPDI:: NC_000005.10:36137307:A:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.36137308A>C, NC_000005.9:g.36137410A>C, XM_011514162.3:c.502T>G, XM_011514162.2:c.502T>G, XM_011514162.1:c.502T>G, NM_001007527.2:c.502T>G, NM_001007527.1:c.502T>G, XP_011512464.1:p.Tyr168Asp, NP_001007528.1:p.Tyr168Asp

Select item 14800684585.

rs1480068458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36117901 (GRCh38)
5:36118003 (GRCh37)
Canonical SPDI:: NC_000005.10:36117900:C:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.36117901C>T, NC_000005.9:g.36118003C>T, XM_011514162.3:c.1136G>A, XM_011514162.2:c.1136G>A, XM_011514162.1:c.1136G>A, NM_001007527.2:c.1136G>A, NM_001007527.1:c.1136G>A, XM_047417877.1:c.473G>A, XP_011512464.1:p.Cys379Tyr, NP_001007528.1:p.Cys379Tyr, XP_047273833.1:p.Cys158Tyr

Select item 14786451046.

rs1478645104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36122929 (GRCh38)
5:36123031 (GRCh37)
Canonical SPDI:: NC_000005.10:36122928:C:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000005.10:g.36122929C>T, NC_000005.9:g.36123031C>T, XM_011514162.3:c.855G>A, XM_011514162.2:c.855G>A, XM_011514162.1:c.855G>A, NM_001007527.2:c.855G>A, NM_001007527.1:c.855G>A, XM_047417877.1:c.192G>A

Select item 14772360257.

rs1477236025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36105086 (GRCh38)
5:36105188 (GRCh37)
Canonical SPDI:: NC_000005.10:36105085:A:G
Gene:: LMBRD2 (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)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36105086A>G, NC_000005.9:g.36105188A>G, XM_011514162.3:c.2009T>C, XM_011514162.2:c.2009T>C, XM_011514162.1:c.2009T>C, NM_001007527.2:c.2009T>C, NM_001007527.1:c.2009T>C, XM_047417877.1:c.1346T>C, XP_011512464.1:p.Leu670Pro, NP_001007528.1:p.Leu670Pro, XP_047273833.1:p.Leu449Pro

Select item 14771809968.

rs1477180996 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36122869 (GRCh38)
5:36122971 (GRCh37)
Canonical SPDI:: NC_000005.10:36122868:A:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0003/1 (KOREAN)
HGVS:: NC_000005.10:g.36122869A>G, NC_000005.9:g.36122971A>G, XM_011514162.3:c.915T>C, XM_011514162.2:c.915T>C, XM_011514162.1:c.915T>C, NM_001007527.2:c.915T>C, NM_001007527.1:c.915T>C, XM_047417877.1:c.252T>C

Select item 14747940449.

rs1474794044 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36105172 (GRCh38)
5:36105274 (GRCh37)
Canonical SPDI:: NC_000005.10:36105171:A:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36105172A>G, NC_000005.9:g.36105274A>G, XM_011514162.3:c.1923T>C, XM_011514162.2:c.1923T>C, XM_011514162.1:c.1923T>C, NM_001007527.2:c.1923T>C, NM_001007527.1:c.1923T>C, XM_047417877.1:c.1260T>C

Select item 146990973310.

rs1469909733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:36114511 (GRCh38)
5:36114613 (GRCh37)
Canonical SPDI:: NC_000005.10:36114510:G:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36114511G>C, NC_000005.9:g.36114613G>C, XM_011514162.3:c.1553C>G, XM_011514162.2:c.1553C>G, XM_011514162.1:c.1553C>G, NM_001007527.2:c.1553C>G, NM_001007527.1:c.1553C>G, XM_047417877.1:c.890C>G, XP_011512464.1:p.Ser518Cys, NP_001007528.1:p.Ser518Cys, XP_047273833.1:p.Ser297Cys

Select item 146926685311.

rs1469266853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36137320 (GRCh38)
5:36137422 (GRCh37)
Canonical SPDI:: NC_000005.10:36137319:C:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36137320C>T, NC_000005.9:g.36137422C>T, XM_011514162.3:c.490G>A, XM_011514162.2:c.490G>A, XM_011514162.1:c.490G>A, NM_001007527.2:c.490G>A, NM_001007527.1:c.490G>A, XP_011512464.1:p.Ala164Thr, NP_001007528.1:p.Ala164Thr

Select item 146650168412.

rs1466501684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36104064 (GRCh38)
5:36104166 (GRCh37)
Canonical SPDI:: NC_000005.10:36104063:G:A
Gene:: LMBRD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.36104064G>A, NC_000005.9:g.36104166G>A, XM_011514162.3:c.2070C>T, XM_011514162.2:c.2070C>T, XM_011514162.1:c.2070C>T, NM_001007527.2:c.2070C>T, NM_001007527.1:c.2070C>T, XM_047417877.1:c.1407C>T

Select item 146641536613.

rs1466415366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36137352 (GRCh38)
5:36137454 (GRCh37)
Canonical SPDI:: NC_000005.10:36137351:A:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36137352A>G, NC_000005.9:g.36137454A>G, XM_011514162.3:c.458T>C, XM_011514162.2:c.458T>C, XM_011514162.1:c.458T>C, NM_001007527.2:c.458T>C, NM_001007527.1:c.458T>C, XP_011512464.1:p.Ile153Thr, NP_001007528.1:p.Ile153Thr

Select item 146395815614.

rs1463958156 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36136433 (GRCh38)
5:36136535 (GRCh37)
Canonical SPDI:: NC_000005.10:36136432:T:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.006/11 (Korea1K)
HGVS:: NC_000005.10:g.36136433T>C, NC_000005.9:g.36136535T>C, XM_011514162.3:c.623A>G, XM_011514162.2:c.623A>G, XM_011514162.1:c.623A>G, NM_001007527.2:c.623A>G, NM_001007527.1:c.623A>G, XP_011512464.1:p.Glu208Gly, NP_001007528.1:p.Glu208Gly

Select item 146200749115.

rs1462007491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36137416 (GRCh38)
5:36137518 (GRCh37)
Canonical SPDI:: NC_000005.10:36137415:A:G
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36137416A>G, NC_000005.9:g.36137518A>G, XM_011514162.3:c.394T>C, XM_011514162.2:c.394T>C, XM_011514162.1:c.394T>C, NM_001007527.2:c.394T>C, NM_001007527.1:c.394T>C, XP_011512464.1:p.Tyr132His, NP_001007528.1:p.Tyr132His

Select item 146094784116.

rs1460947841 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36117767 (GRCh38)
5:36117869 (GRCh37)
Canonical SPDI:: NC_000005.10:36117766:C:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000005.10:g.36117767C>T, NC_000005.9:g.36117869C>T, XM_011514162.3:c.1270G>A, XM_011514162.2:c.1270G>A, XM_011514162.1:c.1270G>A, NM_001007527.2:c.1270G>A, NM_001007527.1:c.1270G>A, XM_047417877.1:c.607G>A, XP_011512464.1:p.Ala424Thr, NP_001007528.1:p.Ala424Thr, XP_047273833.1:p.Ala203Thr

Select item 146047141117.

rs1460471411 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 5:36108536 (GRCh38)
5:36108638 (GRCh37)
Canonical SPDI:: NC_000005.10:36108535:C:
Gene:: LMBRD2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.36108536del, NC_000005.9:g.36108638del, XM_011514162.3:c.1895del, XM_011514162.2:c.1895del, XM_011514162.1:c.1895del, NM_001007527.2:c.1895del, NM_001007527.1:c.1895del, XM_047417877.1:c.1232del, XP_011512464.1:p.Arg632fs, NP_001007528.1:p.Arg632fs, XP_047273833.1:p.Arg411fs

Select item 145778355018.

rs1457783550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36143328 (GRCh38)
5:36143430 (GRCh37)
Canonical SPDI:: NC_000005.10:36143327:G:A
Gene:: LMBRD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36143328G>A, NC_000005.9:g.36143430G>A, XM_011514162.3:c.22C>T, XM_011514162.2:c.22C>T, XM_011514162.1:c.22C>T, NM_001007527.2:c.22C>T, NM_001007527.1:c.22C>T, XP_011512464.1:p.Leu8Phe, NP_001007528.1:p.Leu8Phe

Select item 145691542119.

rs1456915421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:36136459 (GRCh38)
5:36136561 (GRCh37)
Canonical SPDI:: NC_000005.10:36136458:C:A,NC_000005.10:36136458:C:T
Gene:: LMBRD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.36136459C>A, NC_000005.10:g.36136459C>T, NC_000005.9:g.36136561C>A, NC_000005.9:g.36136561C>T, XM_011514162.3:c.597G>T, XM_011514162.3:c.597G>A, XM_011514162.2:c.597G>T, XM_011514162.2:c.597G>A, XM_011514162.1:c.597G>T, XM_011514162.1:c.597G>A, NM_001007527.2:c.597G>T, NM_001007527.2:c.597G>A, NM_001007527.1:c.597G>T, NM_001007527.1:c.597G>A

Select item 145630228020.

rs1456302280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36124203 (GRCh38)
5:36124305 (GRCh37)
Canonical SPDI:: NC_000005.10:36124202:T:C
Gene:: LMBRD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36124203T>C, NC_000005.9:g.36124305T>C, XM_011514162.3:c.810A>G, XM_011514162.2:c.810A>G, XM_011514162.1:c.810A>G, NM_001007527.2:c.810A>G, NM_001007527.1:c.810A>G, XM_047417877.1:c.147A>G

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