SNP Links for Protein (Select 153792327) - SNP

Select item 14888328561.

rs1488832856 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCTC [Show Flanks]
Chromosome:: 8:85217475 (GRCh38)
8:86129705 (GRCh37)
Canonical SPDI:: NC_000008.11:85217475:CCCTC:CCCTCCCTC
Gene:: RBIS (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: CCCT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85217477_85217480dup, NC_000008.10:g.86129706_86129709dup, XM_011517528.4:c.21_24dup, XM_011517528.3:c.21_24dup, XM_011517528.2:c.21_24dup, XM_011517528.1:c.21_24dup, NM_001099670.3:c.21_24dup, NM_001099670.2:c.21_24dup, NM_001099670.1:c.21_24dup, NM_001099671.3:c.21_24dup, NM_001099671.2:c.21_24dup, NM_001099671.1:c.21_24dup, NM_001099672.3:c.21_24dup, NM_001099672.2:c.21_24dup, NM_001099672.1:c.21_24dup, NM_001099673.3:c.21_24dup, NM_001099673.2:c.21_24dup, NM_001099673.1:c.21_24dup, NM_001293320.2:c.21_24dup, NM_001293320.1:c.21_24dup, NR_120681.2:n.134_137dup, NR_120681.1:n.182_185dup, XM_047421777.1:c.21_24dup, XP_011515830.1:p.Pro9fs, NP_001093140.1:p.Pro9fs, NP_001093141.1:p.Pro9fs, NP_001093142.1:p.Pro9fs, NP_001093143.1:p.Pro9fs, NP_001280249.1:p.Pro9fs, XP_047277733.1:p.Pro9fs

Select item 14787158862.

rs1478715886 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85217416 (GRCh38)
8:86129645 (GRCh37)
Canonical SPDI:: NC_000008.11:85217415:T:C
Gene:: RBIS (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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_000008.11:g.85217416T>C, NC_000008.10:g.86129645T>C, XM_011517528.4:c.84A>G, XM_011517528.3:c.84A>G, XM_011517528.2:c.84A>G, XM_011517528.1:c.84A>G, NM_001099670.3:c.84A>G, NM_001099670.2:c.84A>G, NM_001099670.1:c.84A>G, NM_001099671.3:c.84A>G, NM_001099671.2:c.84A>G, NM_001099671.1:c.84A>G, NM_001099672.3:c.84A>G, NM_001099672.2:c.84A>G, NM_001099672.1:c.84A>G, NM_001099673.3:c.84A>G, NM_001099673.2:c.84A>G, NM_001099673.1:c.84A>G, NM_001293320.2:c.84A>G, NM_001293320.1:c.84A>G, NR_120681.2:n.197A>G, NR_120681.1:n.245A>G, XM_047421777.1:c.84A>G

Select item 14699053313.

rs1469905331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85214600 (GRCh38)
8:86126829 (GRCh37)
Canonical SPDI:: NC_000008.11:85214599:A:G
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85214600A>G, NC_000008.10:g.86126829A>G, XM_011517528.4:c.263T>C, XM_011517528.3:c.263T>C, XM_011517528.2:c.263T>C, XM_011517528.1:c.263T>C, NM_001099670.3:c.263T>C, NM_001099670.2:c.263T>C, NM_001099670.1:c.263T>C, NM_001099671.3:c.263T>C, NM_001099671.2:c.263T>C, NM_001099671.1:c.263T>C, NM_001099672.3:c.263T>C, NM_001099672.2:c.263T>C, NM_001099672.1:c.263T>C, NM_001099673.3:c.263T>C, NM_001099673.2:c.263T>C, NM_001099673.1:c.263T>C, NM_001293320.2:c.146T>C, NM_001293320.1:c.146T>C, XM_047421777.1:c.146T>C, XP_011515830.1:p.Val88Ala, NP_001093140.1:p.Val88Ala, NP_001093141.1:p.Val88Ala, NP_001093142.1:p.Val88Ala, NP_001093143.1:p.Val88Ala, NP_001280249.1:p.Val49Ala, XP_047277733.1:p.Val49Ala

Select item 14528276954.

rs1452827695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:85214923 (GRCh38)
8:86127152 (GRCh37)
Canonical SPDI:: NC_000008.11:85214922:G:A,NC_000008.11:85214922:G:C
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85214923G>A, NC_000008.11:g.85214923G>C, NC_000008.10:g.86127152G>A, NC_000008.10:g.86127152G>C, XM_011517528.4:c.229C>T, XM_011517528.4:c.229C>G, XM_011517528.3:c.229C>T, XM_011517528.3:c.229C>G, XM_011517528.2:c.229C>T, XM_011517528.2:c.229C>G, XM_011517528.1:c.229C>T, XM_011517528.1:c.229C>G, NM_001099670.3:c.229C>T, NM_001099670.3:c.229C>G, NM_001099670.2:c.229C>T, NM_001099670.2:c.229C>G, NM_001099670.1:c.229C>T, NM_001099670.1:c.229C>G, NM_001099671.3:c.229C>T, NM_001099671.3:c.229C>G, NM_001099671.2:c.229C>T, NM_001099671.2:c.229C>G, NM_001099671.1:c.229C>T, NM_001099671.1:c.229C>G, NM_001099672.3:c.229C>T, NM_001099672.3:c.229C>G, NM_001099672.2:c.229C>T, NM_001099672.2:c.229C>G, NM_001099672.1:c.229C>T, NM_001099672.1:c.229C>G, NM_001099673.3:c.229C>T, NM_001099673.3:c.229C>G, NM_001099673.2:c.229C>T, NM_001099673.2:c.229C>G, NM_001099673.1:c.229C>T, NM_001099673.1:c.229C>G, XP_011515830.1:p.Leu77Val, NP_001093140.1:p.Leu77Val, NP_001093141.1:p.Leu77Val, NP_001093142.1:p.Leu77Val, NP_001093143.1:p.Leu77Val

Select item 14492792025.

rs1449279202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85214981 (GRCh38)
8:86127210 (GRCh37)
Canonical SPDI:: NC_000008.11:85214980:T:C
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000008.11:g.85214981T>C, NC_000008.10:g.86127210T>C, XM_011517528.4:c.171A>G, XM_011517528.3:c.171A>G, XM_011517528.2:c.171A>G, XM_011517528.1:c.171A>G, NM_001099670.3:c.171A>G, NM_001099670.2:c.171A>G, NM_001099670.1:c.171A>G, NM_001099671.3:c.171A>G, NM_001099671.2:c.171A>G, NM_001099671.1:c.171A>G, NM_001099672.3:c.171A>G, NM_001099672.2:c.171A>G, NM_001099672.1:c.171A>G, NM_001099673.3:c.171A>G, NM_001099673.2:c.171A>G, NM_001099673.1:c.171A>G

Select item 14252251376.

rs1425225137 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 8:85214965 (GRCh38)
8:86127194 (GRCh37)
Canonical SPDI:: NC_000008.11:85214964:G:
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.85214965del, NC_000008.10:g.86127194del, XM_011517528.4:c.187del, XM_011517528.3:c.187del, XM_011517528.2:c.187del, XM_011517528.1:c.187del, NM_001099670.3:c.187del, NM_001099670.2:c.187del, NM_001099670.1:c.187del, NM_001099671.3:c.187del, NM_001099671.2:c.187del, NM_001099671.1:c.187del, NM_001099672.3:c.187del, NM_001099672.2:c.187del, NM_001099672.1:c.187del, NM_001099673.3:c.187del, NM_001099673.2:c.187del, NM_001099673.1:c.187del, XP_011515830.1:p.His63fs, NP_001093140.1:p.His63fs, NP_001093141.1:p.His63fs, NP_001093142.1:p.His63fs, NP_001093143.1:p.His63fs

Select item 14235699547.

rs1423569954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85215035 (GRCh38)
8:86127264 (GRCh37)
Canonical SPDI:: NC_000008.11:85215034:T:C
Gene:: RBIS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000006/1 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.85215035T>C, NC_000008.10:g.86127264T>C, XM_011517528.4:c.117A>G, XM_011517528.3:c.117A>G, XM_011517528.2:c.117A>G, XM_011517528.1:c.117A>G, NM_001099670.3:c.117A>G, NM_001099670.2:c.117A>G, NM_001099670.1:c.117A>G, NM_001099671.3:c.117A>G, NM_001099671.2:c.117A>G, NM_001099671.1:c.117A>G, NM_001099672.3:c.117A>G, NM_001099672.2:c.117A>G, NM_001099672.1:c.117A>G, NM_001099673.3:c.117A>G, NM_001099673.2:c.117A>G, NM_001099673.1:c.117A>G, XP_011515830.1:p.Ile39Met, NP_001093140.1:p.Ile39Met, NP_001093141.1:p.Ile39Met, NP_001093142.1:p.Ile39Met, NP_001093143.1:p.Ile39Met

Select item 14158467838.

rs1415846783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:85214616 (GRCh38)
8:86126845 (GRCh37)
Canonical SPDI:: NC_000008.11:85214615:G:C
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: 500B_downstream_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85214616G>C, NC_000008.10:g.86126845G>C, XM_011517528.4:c.247C>G, XM_011517528.3:c.247C>G, XM_011517528.2:c.247C>G, XM_011517528.1:c.247C>G, NM_001099670.3:c.247C>G, NM_001099670.2:c.247C>G, NM_001099670.1:c.247C>G, NM_001099671.3:c.247C>G, NM_001099671.2:c.247C>G, NM_001099671.1:c.247C>G, NM_001099672.3:c.247C>G, NM_001099672.2:c.247C>G, NM_001099672.1:c.247C>G, NM_001099673.3:c.247C>G, NM_001099673.2:c.247C>G, NM_001099673.1:c.247C>G, NM_001293320.2:c.130C>G, NM_001293320.1:c.130C>G, XM_047421777.1:c.130C>G, XP_011515830.1:p.His83Asp, NP_001093140.1:p.His83Asp, NP_001093141.1:p.His83Asp, NP_001093142.1:p.His83Asp, NP_001093143.1:p.His83Asp, NP_001280249.1:p.His44Asp, XP_047277733.1:p.His44Asp

Select item 14017691399.

rs1401769139 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:85217419 (GRCh38)
8:86129649 (GRCh37)
Canonical SPDI:: NC_000008.11:85217419:TTTTT:TTTTTT
Gene:: RBIS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85217424dup, NC_000008.10:g.86129653dup, XM_011517528.4:c.80dup, XM_011517528.3:c.80dup, XM_011517528.2:c.80dup, XM_011517528.1:c.80dup, NM_001099670.3:c.80dup, NM_001099670.2:c.80dup, NM_001099670.1:c.80dup, NM_001099671.3:c.80dup, NM_001099671.2:c.80dup, NM_001099671.1:c.80dup, NM_001099672.3:c.80dup, NM_001099672.2:c.80dup, NM_001099672.1:c.80dup, NM_001099673.3:c.80dup, NM_001099673.2:c.80dup, NM_001099673.1:c.80dup, NM_001293320.2:c.80dup, NM_001293320.1:c.80dup, NR_120681.2:n.193dup, NR_120681.1:n.241dup, XM_047421777.1:c.80dup, XP_011515830.1:p.Asn27fs, NP_001093140.1:p.Asn27fs, NP_001093141.1:p.Asn27fs, NP_001093142.1:p.Asn27fs, NP_001093143.1:p.Asn27fs, NP_001280249.1:p.Asn27fs, XP_047277733.1:p.Asn27fs

Select item 137787482410.

rs1377874824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85214978 (GRCh38)
8:86127207 (GRCh37)
Canonical SPDI:: NC_000008.11:85214977:T:C
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
HGVS:: NC_000008.11:g.85214978T>C, NC_000008.10:g.86127207T>C, XM_011517528.4:c.174A>G, XM_011517528.3:c.174A>G, XM_011517528.2:c.174A>G, XM_011517528.1:c.174A>G, NM_001099670.3:c.174A>G, NM_001099670.2:c.174A>G, NM_001099670.1:c.174A>G, NM_001099671.3:c.174A>G, NM_001099671.2:c.174A>G, NM_001099671.1:c.174A>G, NM_001099672.3:c.174A>G, NM_001099672.2:c.174A>G, NM_001099672.1:c.174A>G, NM_001099673.3:c.174A>G, NM_001099673.2:c.174A>G, NM_001099673.1:c.174A>G

Select item 137454481411.

rs1374544814 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85215016 (GRCh38)
8:86127245 (GRCh37)
Canonical SPDI:: NC_000008.11:85215015:T:C
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant,downstream_transcript_variant,intron_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_000008.11:g.85215016T>C, NC_000008.10:g.86127245T>C, XM_011517528.4:c.136A>G, XM_011517528.3:c.136A>G, XM_011517528.2:c.136A>G, XM_011517528.1:c.136A>G, NM_001099670.3:c.136A>G, NM_001099670.2:c.136A>G, NM_001099670.1:c.136A>G, NM_001099671.3:c.136A>G, NM_001099671.2:c.136A>G, NM_001099671.1:c.136A>G, NM_001099672.3:c.136A>G, NM_001099672.2:c.136A>G, NM_001099672.1:c.136A>G, NM_001099673.3:c.136A>G, NM_001099673.2:c.136A>G, NM_001099673.1:c.136A>G, XP_011515830.1:p.Lys46Glu, NP_001093140.1:p.Lys46Glu, NP_001093141.1:p.Lys46Glu, NP_001093142.1:p.Lys46Glu, NP_001093143.1:p.Lys46Glu

Select item 136627316312.

rs1366273163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:85217432 (GRCh38)
8:86129661 (GRCh37)
Canonical SPDI:: NC_000008.11:85217431:A:C
Gene:: RBIS (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85217432A>C, NC_000008.10:g.86129661A>C, XM_011517528.4:c.68T>G, XM_011517528.3:c.68T>G, XM_011517528.2:c.68T>G, XM_011517528.1:c.68T>G, NM_001099670.3:c.68T>G, NM_001099670.2:c.68T>G, NM_001099670.1:c.68T>G, NM_001099671.3:c.68T>G, NM_001099671.2:c.68T>G, NM_001099671.1:c.68T>G, NM_001099672.3:c.68T>G, NM_001099672.2:c.68T>G, NM_001099672.1:c.68T>G, NM_001099673.3:c.68T>G, NM_001099673.2:c.68T>G, NM_001099673.1:c.68T>G, NM_001293320.2:c.68T>G, NM_001293320.1:c.68T>G, NR_120681.2:n.181T>G, NR_120681.1:n.229T>G, XM_047421777.1:c.68T>G, XP_011515830.1:p.Phe23Cys, NP_001093140.1:p.Phe23Cys, NP_001093141.1:p.Phe23Cys, NP_001093142.1:p.Phe23Cys, NP_001093143.1:p.Phe23Cys, NP_001280249.1:p.Phe23Cys, XP_047277733.1:p.Phe23Cys

Select item 136262664613.

rs1362626646 has merged into rs112611553 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTAAC>-,ATTAACATTAAC [Show Flanks]
Chromosome:: 8:85214596 (GRCh38)
8:86126831 (GRCh37)
Canonical SPDI:: NC_000008.11:85214592:AACATTAAC:AAC,NC_000008.11:85214592:AACATTAAC:AACATTAACATTAAC
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,500B_downstream_variant,inframe_insertion,genic_downstream_transcript_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AACATTAACATTAAC=0.489177/13491 (ALFA)
-=0./0 (GENOME_DK)
-=0./0 (NorthernSweden)
-=0.001492/25 (TOMMO)
-=0.001563/7 (Estonian)
-=0.002135/168 (PAGE_STUDY)
-=0.002639/370 (GnomAD)
-=0.002854/11 (ALSPAC)
-=0.002928/775 (TOPMED)
-=0.002967/11 (TWINSUK)
-=0.002999/738 (GnomAD_exomes)
-=0.003003/362 (ExAC)
-=0.003592/18 (1000Genomes)
-=0.003989/45 (GoESP)
HGVS:: NC_000008.11:g.85214596_85214601del, NC_000008.11:g.85214596_85214601dup, NC_000008.10:g.86126830_86126831insATTAAC, NC_000008.10:g.86126830_86126831insATTAACATTAAC, XM_011517528.4:c.265_270del, XM_011517528.4:c.265_270dup, XM_011517528.3:c.265_270del, XM_011517528.3:c.265_270dup, XM_011517528.2:c.265_270del, XM_011517528.2:c.265_270dup, XM_011517528.1:c.265_270del, XM_011517528.1:c.265_270dup, NM_001099670.3:c.265_270del, NM_001099670.3:c.265_270dup, NM_001099670.2:c.265_270del, NM_001099670.2:c.265_270dup, NM_001099670.1:c.265_270del, NM_001099670.1:c.265_270dup, NM_001099671.3:c.265_270del, NM_001099671.3:c.265_270dup, NM_001099671.2:c.265_270del, NM_001099671.2:c.265_270dup, NM_001099671.1:c.265_270del, NM_001099671.1:c.265_270dup, NM_001099672.3:c.265_270del, NM_001099672.3:c.265_270dup, NM_001099672.2:c.265_270del, NM_001099672.2:c.265_270dup, NM_001099672.1:c.265_270del, NM_001099672.1:c.265_270dup, NM_001099673.3:c.265_270del, NM_001099673.3:c.265_270dup, NM_001099673.2:c.265_270del, NM_001099673.2:c.265_270dup, NM_001099673.1:c.265_270del, NM_001099673.1:c.265_270dup, NM_001293320.2:c.148_153del, NM_001293320.2:c.148_153dup, NM_001293320.1:c.148_153del, NM_001293320.1:c.148_153dup, XM_047421777.1:c.148_153del, XM_047421777.1:c.148_153dup, XP_011515830.1:p.Asn89_Val90del, XP_011515830.1:p.Asn89_Val90dup, NP_001093140.1:p.Asn89_Val90del, NP_001093140.1:p.Asn89_Val90dup, NP_001093141.1:p.Asn89_Val90del, NP_001093141.1:p.Asn89_Val90dup, NP_001093142.1:p.Asn89_Val90del, NP_001093142.1:p.Asn89_Val90dup, NP_001093143.1:p.Asn89_Val90del, NP_001093143.1:p.Asn89_Val90dup, NP_001280249.1:p.Asn50_Val51del, NP_001280249.1:p.Asn50_Val51dup, XP_047277733.1:p.Asn50_Val51del, XP_047277733.1:p.Asn50_Val51dup

Select item 136181747514.

rs1361817475 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:85214561 (GRCh38)
8:86126796 (GRCh37)
Canonical SPDI:: NC_000008.11:85214560:T:G
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: terminator_codon_variant,genic_downstream_transcript_variant,500B_downstream_variant,stop_lost,downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85214561T>G, NC_000008.10:g.86126796T>G, XM_011517528.4:c.302A>C, XM_011517528.3:c.302A>C, XM_011517528.2:c.302A>C, XM_011517528.1:c.302A>C, NM_001099670.3:c.302A>C, NM_001099670.2:c.302A>C, NM_001099670.1:c.302A>C, NM_001099671.3:c.302A>C, NM_001099671.2:c.302A>C, NM_001099671.1:c.302A>C, NM_001099672.3:c.302A>C, NM_001099672.2:c.302A>C, NM_001099672.1:c.302A>C, NM_001099673.3:c.302A>C, NM_001099673.2:c.302A>C, NM_001099673.1:c.302A>C, NM_001293320.2:c.185A>C, NM_001293320.1:c.185A>C, XM_047421777.1:c.185A>C, XP_011515830.1:p.Ter101Ser, NP_001093140.1:p.Ter101Ser, NP_001093141.1:p.Ter101Ser, NP_001093142.1:p.Ter101Ser, NP_001093143.1:p.Ter101Ser, NP_001280249.1:p.Ter62Ser, XP_047277733.1:p.Ter62Ser

Select item 136104146615.

rs1361041466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:85217415 (GRCh38)
8:86129644 (GRCh37)
Canonical SPDI:: NC_000008.11:85217414:C:G
Gene:: RBIS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85217415C>G, NC_000008.10:g.86129644C>G, XM_011517528.4:c.85G>C, XM_011517528.3:c.85G>C, XM_011517528.2:c.85G>C, XM_011517528.1:c.85G>C, NM_001099670.3:c.85G>C, NM_001099670.2:c.85G>C, NM_001099670.1:c.85G>C, NM_001099671.3:c.85G>C, NM_001099671.2:c.85G>C, NM_001099671.1:c.85G>C, NM_001099672.3:c.85G>C, NM_001099672.2:c.85G>C, NM_001099672.1:c.85G>C, NM_001099673.3:c.85G>C, NM_001099673.2:c.85G>C, NM_001099673.1:c.85G>C, NM_001293320.2:c.85G>C, NM_001293320.1:c.85G>C, NR_120681.2:n.198G>C, NR_120681.1:n.246G>C, XM_047421777.1:c.85G>C, XP_011515830.1:p.Ala29Pro, NP_001093140.1:p.Ala29Pro, NP_001093141.1:p.Ala29Pro, NP_001093142.1:p.Ala29Pro, NP_001093143.1:p.Ala29Pro, NP_001280249.1:p.Ala29Pro, XP_047277733.1:p.Ala29Pro

Select item 135841091516.

rs1358410915 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:85215004 (GRCh38)
8:86127233 (GRCh37)
Canonical SPDI:: NC_000008.11:85215003:C:T
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85215004C>T, NC_000008.10:g.86127233C>T, XM_011517528.4:c.148G>A, XM_011517528.3:c.148G>A, XM_011517528.2:c.148G>A, XM_011517528.1:c.148G>A, NM_001099670.3:c.148G>A, NM_001099670.2:c.148G>A, NM_001099670.1:c.148G>A, NM_001099671.3:c.148G>A, NM_001099671.2:c.148G>A, NM_001099671.1:c.148G>A, NM_001099672.3:c.148G>A, NM_001099672.2:c.148G>A, NM_001099672.1:c.148G>A, NM_001099673.3:c.148G>A, NM_001099673.2:c.148G>A, NM_001099673.1:c.148G>A, XP_011515830.1:p.Val50Ile, NP_001093140.1:p.Val50Ile, NP_001093141.1:p.Val50Ile, NP_001093142.1:p.Val50Ile, NP_001093143.1:p.Val50Ile

Select item 135111423017.

rs1351114230 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85217451 (GRCh38)
8:86129680 (GRCh37)
Canonical SPDI:: NC_000008.11:85217450:T:C
Gene:: RBIS (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85217451T>C, NC_000008.10:g.86129680T>C, XM_011517528.4:c.49A>G, XM_011517528.3:c.49A>G, XM_011517528.2:c.49A>G, XM_011517528.1:c.49A>G, NM_001099670.3:c.49A>G, NM_001099670.2:c.49A>G, NM_001099670.1:c.49A>G, NM_001099671.3:c.49A>G, NM_001099671.2:c.49A>G, NM_001099671.1:c.49A>G, NM_001099672.3:c.49A>G, NM_001099672.2:c.49A>G, NM_001099672.1:c.49A>G, NM_001099673.3:c.49A>G, NM_001099673.2:c.49A>G, NM_001099673.1:c.49A>G, NM_001293320.2:c.49A>G, NM_001293320.1:c.49A>G, NR_120681.2:n.162A>G, NR_120681.1:n.210A>G, XM_047421777.1:c.49A>G, XP_011515830.1:p.Ile17Val, NP_001093140.1:p.Ile17Val, NP_001093141.1:p.Ile17Val, NP_001093142.1:p.Ile17Val, NP_001093143.1:p.Ile17Val, NP_001280249.1:p.Ile17Val, XP_047277733.1:p.Ile17Val

Select item 134422899418.

rs1344228994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:85214625 (GRCh38)
8:86126854 (GRCh37)
Canonical SPDI:: NC_000008.11:85214624:G:A
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85214625G>A, NC_000008.10:g.86126854G>A, XM_011517528.4:c.238C>T, XM_011517528.3:c.238C>T, XM_011517528.2:c.238C>T, XM_011517528.1:c.238C>T, NM_001099670.3:c.238C>T, NM_001099670.2:c.238C>T, NM_001099670.1:c.238C>T, NM_001099671.3:c.238C>T, NM_001099671.2:c.238C>T, NM_001099671.1:c.238C>T, NM_001099672.3:c.238C>T, NM_001099672.2:c.238C>T, NM_001099672.1:c.238C>T, NM_001099673.3:c.238C>T, NM_001099673.2:c.238C>T, NM_001099673.1:c.238C>T, NM_001293320.2:c.121C>T, NM_001293320.1:c.121C>T, XM_047421777.1:c.121C>T, XP_011515830.1:p.Gln80Ter, NP_001093140.1:p.Gln80Ter, NP_001093141.1:p.Gln80Ter, NP_001093142.1:p.Gln80Ter, NP_001093143.1:p.Gln80Ter, NP_001280249.1:p.Gln41Ter, XP_047277733.1:p.Gln41Ter

Select item 133846912719.

rs1338469127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85214990 (GRCh38)
8:86127219 (GRCh37)
Canonical SPDI:: NC_000008.11:85214989:A:G
Gene:: E2F5 (Varview), RBIS (Varview)
Functional Consequence:: genic_downstream_transcript_variant,synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.85214990A>G, NC_000008.10:g.86127219A>G, XM_011517528.4:c.162T>C, XM_011517528.3:c.162T>C, XM_011517528.2:c.162T>C, XM_011517528.1:c.162T>C, NM_001099670.3:c.162T>C, NM_001099670.2:c.162T>C, NM_001099670.1:c.162T>C, NM_001099671.3:c.162T>C, NM_001099671.2:c.162T>C, NM_001099671.1:c.162T>C, NM_001099672.3:c.162T>C, NM_001099672.2:c.162T>C, NM_001099672.1:c.162T>C, NM_001099673.3:c.162T>C, NM_001099673.2:c.162T>C, NM_001099673.1:c.162T>C

Select item 129947889320.

rs1299478893 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:85217454 (GRCh38)
8:86129683 (GRCh37)
Canonical SPDI:: NC_000008.11:85217453:G:A
Gene:: RBIS (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.85217454G>A, NC_000008.10:g.86129683G>A, XM_011517528.4:c.46C>T, XM_011517528.3:c.46C>T, XM_011517528.2:c.46C>T, XM_011517528.1:c.46C>T, NM_001099670.3:c.46C>T, NM_001099670.2:c.46C>T, NM_001099670.1:c.46C>T, NM_001099671.3:c.46C>T, NM_001099671.2:c.46C>T, NM_001099671.1:c.46C>T, NM_001099672.3:c.46C>T, NM_001099672.2:c.46C>T, NM_001099672.1:c.46C>T, NM_001099673.3:c.46C>T, NM_001099673.2:c.46C>T, NM_001099673.1:c.46C>T, NM_001293320.2:c.46C>T, NM_001293320.1:c.46C>T, NR_120681.2:n.159C>T, NR_120681.1:n.207C>T, XM_047421777.1:c.46C>T, XP_011515830.1:p.His16Tyr, NP_001093140.1:p.His16Tyr, NP_001093141.1:p.His16Tyr, NP_001093142.1:p.His16Tyr, NP_001093143.1:p.His16Tyr, NP_001280249.1:p.His16Tyr, XP_047277733.1:p.His16Tyr

dbSNP

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Result Filters

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Items: 1 to 20 of 94

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