SNP Links for Protein (Select 108773787) - SNP

Links from Protein

Items: 1 to 20 of 844

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Select item 14861682921.

rs1486168292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48379650 (GRCh38)
13:48953786 (GRCh37)
Canonical SPDI:: NC_000013.11:48379649:A:G
Gene:: RB1 (Varview), LOC112268118 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48379650A>G, NC_000013.10:g.48953786A>G, NG_009009.1:g.80904A>G, NM_000321.3:c.1389A>G, NM_000321.2:c.1389A>G, NM_001407166.1:c.1389A>G, NM_001407165.1:c.1389A>G

Select item 14861582912.

rs1486158291 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:48381293 (GRCh38)
13:48955429 (GRCh37)
Canonical SPDI:: NC_000013.11:48381292:A:G,NC_000013.11:48381292:A:T
Gene:: RB1 (Varview), LOC112268118 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48381293A>G, NC_000013.11:g.48381293A>T, NC_000013.10:g.48955429A>G, NC_000013.10:g.48955429A>T, NG_009009.1:g.82547A>G, NG_009009.1:g.82547A>T, NM_000321.3:c.1545A>G, NM_000321.3:c.1545A>T, NM_000321.2:c.1545A>G, NM_000321.2:c.1545A>T, NM_001407166.1:c.1545A>G, NM_001407166.1:c.1545A>T, NM_001407165.1:c.1545A>G, NM_001407165.1:c.1545A>T

Select item 14842315983.

rs1484231598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48463751 (GRCh38)
13:49037887 (GRCh37)
Canonical SPDI:: NC_000013.11:48463750:T:C
Gene:: RB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.48463751T>C, NC_000013.10:g.49037887T>C, NG_009009.1:g.165005T>C, NM_000321.3:c.2127T>C, NM_000321.2:c.2127T>C, NM_001407165.1:c.2127T>C

Select item 14822844984.

rs1482284498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 13:48304001 (GRCh38)
13:48878137 (GRCh37)
Canonical SPDI:: NC_000013.11:48304000:A:C,NC_000013.11:48304000:A:T
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.48304001A>C, NC_000013.11:g.48304001A>T, NC_000013.10:g.48878137A>C, NC_000013.10:g.48878137A>T, NG_009009.1:g.5255A>C, NG_009009.1:g.5255A>T, NM_000321.3:c.89A>C, NM_000321.3:c.89A>T, NM_000321.2:c.89A>C, NM_000321.2:c.89A>T, NM_001407166.1:c.89A>C, NM_001407166.1:c.89A>T, NM_001407165.1:c.89A>C, NM_001407165.1:c.89A>T, NM_001407167.1:c.89A>C, NM_001407167.1:c.89A>T, NP_000312.2:p.Glu30Ala, NP_000312.2:p.Glu30Val

Select item 14819320825.

rs1481932082 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCGCCACCGCCGCCGC>- [Show Flanks]
Chromosome:: 13:48303939 (GRCh38)
13:48878075 (GRCh37)
Canonical SPDI:: NC_000013.11:48303937:CGGCCGCCACCGCCGCCGC:C
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48303939_48303956del, NC_000013.10:g.48878075_48878092del, NG_009009.1:g.5193_5210del, NM_000321.3:c.27_44del, NM_000321.2:c.27_44del, NM_001407166.1:c.27_44del, NM_001407165.1:c.27_44del, NM_001407167.1:c.27_44del, NP_000312.2:p.Thr12_Ala17del

Select item 14810770876.

rs1481077087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:48477359 (GRCh38)
13:49051495 (GRCh37)
Canonical SPDI:: NC_000013.11:48477358:C:G,NC_000013.11:48477358:C:T
Gene:: RB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by cluster
HGVS:: NC_000013.11:g.48477359C>G, NC_000013.11:g.48477359C>T, NC_000013.10:g.49051495C>G, NC_000013.10:g.49051495C>T, NG_009009.1:g.178613C>G, NG_009009.1:g.178613C>T, NM_000321.3:c.2668C>G, NM_000321.3:c.2668C>T, NM_000321.2:c.2668C>G, NM_000321.2:c.2668C>T, NM_001407165.1:c.2668C>G, NM_001407165.1:c.2668C>T, NM_001407168.1:c.118C>G, NM_001407168.1:c.118C>T, NP_000312.2:p.His890Asp, NP_000312.2:p.His890Tyr

Select item 14805817477.

rs1480581747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 13:48304016 (GRCh38)
13:48878152 (GRCh37)
Canonical SPDI:: NC_000013.11:48304015:A:T
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000094/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.48304016A>T, NC_000013.10:g.48878152A>T, NG_009009.1:g.5270A>T, NM_000321.3:c.104A>T, NM_000321.2:c.104A>T, NM_001407166.1:c.104A>T, NM_001407165.1:c.104A>T, NM_001407167.1:c.104A>T, NP_000312.2:p.Gln35Leu

Select item 14790148648.

rs1479014864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 13:48360111 (GRCh38)
13:48934247 (GRCh37)
Canonical SPDI:: NC_000013.11:48360110:G:A,NC_000013.11:48360110:G:C
Gene:: RB1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48360111G>A, NC_000013.11:g.48360111G>C, NC_000013.10:g.48934247G>A, NC_000013.10:g.48934247G>C, NG_009009.1:g.61365G>A, NG_009009.1:g.61365G>C, NM_000321.3:c.702G>A, NM_000321.3:c.702G>C, NM_000321.2:c.702G>A, NM_000321.2:c.702G>C, NM_001407166.1:c.702G>A, NM_001407166.1:c.702G>C, NM_001407165.1:c.702G>A, NM_001407165.1:c.702G>C, NP_000312.2:p.Leu234Phe

Select item 14788233049.

rs1478823304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48453015 (GRCh38)
13:49027151 (GRCh37)
Canonical SPDI:: NC_000013.11:48453014:T:C
Gene:: RB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48453015T>C, NC_000013.10:g.49027151T>C, NG_009009.1:g.154269T>C, NM_000321.3:c.1718T>C, NM_000321.2:c.1718T>C, NM_001407165.1:c.1718T>C, NP_000312.2:p.Ile573Thr

Select item 147771284210.

rs1477712842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 13:48362891 (GRCh38)
13:48937027 (GRCh37)
Canonical SPDI:: NC_000013.11:48362890:A:C,NC_000013.11:48362890:A:G,NC_000013.11:48362890:A:T
Gene:: RB1 (Varview), LOC112268118 (Varview)
Functional Consequence:: 500B_downstream_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48362891A>C, NC_000013.11:g.48362891A>G, NC_000013.11:g.48362891A>T, NC_000013.10:g.48937027A>C, NC_000013.10:g.48937027A>G, NC_000013.10:g.48937027A>T, NG_009009.1:g.64145A>C, NG_009009.1:g.64145A>G, NG_009009.1:g.64145A>T, NM_000321.3:c.795A>C, NM_000321.3:c.795A>G, NM_000321.3:c.795A>T, NM_000321.2:c.795A>C, NM_000321.2:c.795A>G, NM_000321.2:c.795A>T, NM_001407166.1:c.795A>C, NM_001407166.1:c.795A>G, NM_001407166.1:c.795A>T, NM_001407165.1:c.795A>C, NM_001407165.1:c.795A>G, NM_001407165.1:c.795A>T, NP_000312.2:p.Lys265Asn, NP_000312.2:p.Lys265Asn

Select item 147702822411.

rs1477028224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 13:48364926 (GRCh38)
13:48939062 (GRCh37)
Canonical SPDI:: NC_000013.11:48364925:T:C,NC_000013.11:48364925:T:G
Gene:: RB1 (Varview), LOC112268118 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48364926T>C, NC_000013.11:g.48364926T>G, NC_000013.10:g.48939062T>C, NC_000013.10:g.48939062T>G, NG_009009.1:g.66180T>C, NG_009009.1:g.66180T>G, NM_000321.3:c.894T>C, NM_000321.3:c.894T>G, NM_000321.2:c.894T>C, NM_000321.2:c.894T>G, NM_001407166.1:c.894T>C, NM_001407166.1:c.894T>G, NM_001407165.1:c.894T>C, NM_001407165.1:c.894T>G, XR_002957522.2:n.172A>G, XR_002957522.2:n.172A>C, XR_002957522.1:n.172A>G, XR_002957522.1:n.172A>C

Select item 147520197512.

rs1475201975 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48480034 (GRCh38)
13:49054170 (GRCh37)
Canonical SPDI:: NC_000013.11:48480033:A:G
Gene:: RB1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48480034A>G, NC_000013.10:g.49054170A>G, NG_009009.1:g.181288A>G, NM_000321.3:c.2750A>G, NM_000321.2:c.2750A>G, NM_001407165.1:c.2769A>G, NM_001407168.1:c.200A>G, NP_000312.2:p.Asn917Ser

Select item 147272480913.

rs1472724809 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:48456204 (GRCh38)
13:49030340 (GRCh37)
Canonical SPDI:: NC_000013.11:48456203:G:A,NC_000013.11:48456203:G:C,NC_000013.11:48456203:G:T
Gene:: RB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48456204G>A, NC_000013.11:g.48456204G>C, NC_000013.11:g.48456204G>T, NC_000013.10:g.49030340G>A, NC_000013.10:g.49030340G>C, NC_000013.10:g.49030340G>T, NG_009009.1:g.157458G>A, NG_009009.1:g.157458G>C, NG_009009.1:g.157458G>T, NM_000321.3:c.1815G>A, NM_000321.3:c.1815G>C, NM_000321.3:c.1815G>T, NM_000321.2:c.1815G>A, NM_000321.2:c.1815G>C, NM_000321.2:c.1815G>T, NM_001407165.1:c.1815G>A, NM_001407165.1:c.1815G>C, NM_001407165.1:c.1815G>T, NP_000312.2:p.Met605Ile, NP_000312.2:p.Met605Ile, NP_000312.2:p.Met605Ile

Select item 147209047214.

rs1472090472 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:48347834 (GRCh38)
13:48921970 (GRCh37)
Canonical SPDI:: NC_000013.11:48347833:A:G,NC_000013.11:48347833:A:T
Gene:: RB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48347834A>G, NC_000013.11:g.48347834A>T, NC_000013.10:g.48921970A>G, NC_000013.10:g.48921970A>T, NG_009009.1:g.49088A>G, NG_009009.1:g.49088A>T, NM_000321.3:c.510A>G, NM_000321.3:c.510A>T, NM_000321.2:c.510A>G, NM_000321.2:c.510A>T, NM_001407166.1:c.510A>G, NM_001407166.1:c.510A>T, NM_001407165.1:c.510A>G, NM_001407165.1:c.510A>T, NP_000312.2:p.Glu170Asp

Select item 147181001615.

rs1471810016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACC [Show Flanks]
Chromosome:: 13:48303943 (GRCh38)
13:48878080 (GRCh37)
Canonical SPDI:: NC_000013.11:48303943:CCACC:CCACCACC
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: inframe_insertion,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: CCA=0.000007/1 (GnomAD)
CCA=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48303946_48303948dup, NC_000013.10:g.48878082_48878084dup, NG_009009.1:g.5200_5202dup, NM_000321.3:c.34_36dup, NM_000321.2:c.34_36dup, NM_001407166.1:c.34_36dup, NM_001407165.1:c.34_36dup, NM_001407167.1:c.34_36dup, NP_000312.2:p.Thr12dup

Select item 147091958516.

rs1470919585 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 13:48465261 (GRCh38)
13:49039397 (GRCh37)
Canonical SPDI:: NC_000013.11:48465260:T:A,NC_000013.11:48465260:T:C,NC_000013.11:48465260:T:G
Gene:: RB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48465261T>A, NC_000013.11:g.48465261T>C, NC_000013.11:g.48465261T>G, NC_000013.10:g.49039397T>A, NC_000013.10:g.49039397T>C, NC_000013.10:g.49039397T>G, NG_009009.1:g.166515T>A, NG_009009.1:g.166515T>C, NG_009009.1:g.166515T>G, NM_000321.3:c.2382T>A, NM_000321.3:c.2382T>C, NM_000321.3:c.2382T>G, NM_000321.2:c.2382T>A, NM_000321.2:c.2382T>C, NM_000321.2:c.2382T>G, NM_001407165.1:c.2382T>A, NM_001407165.1:c.2382T>C, NM_001407165.1:c.2382T>G, NP_000312.2:p.Ser794Arg, NP_000312.2:p.Ser794Arg

Select item 147052301817.

rs1470523018 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:48373416 (GRCh38)
13:48947552 (GRCh37)
Canonical SPDI:: NC_000013.11:48373415:A:G,NC_000013.11:48373415:A:T
Gene:: RB1 (Varview), LOC112268118 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Clinical significance:: conflicting-interpretations-of-pathogenicity
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000013.11:g.48373416A>G, NC_000013.11:g.48373416A>T, NC_000013.10:g.48947552A>G, NC_000013.10:g.48947552A>T, NG_009009.1:g.74670A>G, NG_009009.1:g.74670A>T, NM_000321.3:c.1139A>G, NM_000321.3:c.1139A>T, NM_000321.2:c.1139A>G, NM_000321.2:c.1139A>T, NM_001407166.1:c.1139A>G, NM_001407166.1:c.1139A>T, NM_001407165.1:c.1139A>G, NM_001407165.1:c.1139A>T, NP_000312.2:p.Asn380Ser, NP_000312.2:p.Asn380Ile

Select item 147051635018.

rs1470516350 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:48476795 (GRCh38)
13:49050931 (GRCh37)
Canonical SPDI:: NC_000013.11:48476794:T:C
Gene:: RB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.48476795T>C, NC_000013.10:g.49050931T>C, NG_009009.1:g.178049T>C, NM_000321.3:c.2615T>C, NM_000321.2:c.2615T>C, NM_001407165.1:c.2615T>C, NM_001407168.1:c.65T>C, NP_000312.2:p.Leu872Pro

Select item 146988704019.

rs1469887040 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 13:48303970 (GRCh38)
13:48878106 (GRCh37)
Canonical SPDI:: NC_000013.11:48303969:CCCCC:CCCC,NC_000013.11:48303969:CCCCC:CCCCCC
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic
HGVS:: NC_000013.11:g.48303974del, NC_000013.11:g.48303974dup, NC_000013.10:g.48878110del, NC_000013.10:g.48878110dup, NG_009009.1:g.5228del, NG_009009.1:g.5228dup, NM_000321.3:c.62del, NM_000321.3:c.62dup, NM_000321.2:c.62del, NM_000321.2:c.62dup, NM_001407166.1:c.62del, NM_001407166.1:c.62dup, NM_001407165.1:c.62del, NM_001407165.1:c.62dup, NM_001407167.1:c.62del, NM_001407167.1:c.62dup, NP_000312.2:p.Pro21fs, NP_000312.2:p.Ala22fs

Select item 146953541420.

rs1469535414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48362852 (GRCh38)
13:48936988 (GRCh37)
Canonical SPDI:: NC_000013.11:48362851:A:G
Gene:: RB1 (Varview), LOC112268118 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000013.11:g.48362852A>G, NC_000013.10:g.48936988A>G, NG_009009.1:g.64106A>G, NM_000321.3:c.756A>G, NM_000321.2:c.756A>G, NM_001407166.1:c.756A>G, NM_001407165.1:c.756A>G

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