SNP Links for Protein (Select 767999017) - SNP

Links from Protein

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Select item 14873986771.

rs1487398677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:21838393 (GRCh38)
18:19418354 (GRCh37)
Canonical SPDI:: NC_000018.10:21838392:C:G
Gene:: MIB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.21838393C>G, NC_000018.9:g.19418354C>G, NG_033272.2:g.138437C>G, NM_020774.4:c.1858C>G, NM_020774.3:c.1858C>G, XM_011526098.2:c.388C>G, XM_011526098.1:c.388C>G, XM_047437676.1:c.1609C>G, NP_065825.1:p.Pro620Ala, XP_011524400.1:p.Pro130Ala, XP_047293632.1:p.Pro537Ala

Select item 14868848412.

rs1486884841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21838403 (GRCh38)
18:19418364 (GRCh37)
Canonical SPDI:: NC_000018.10:21838402:G:A
Gene:: MIB1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.21838403G>A, NC_000018.9:g.19418364G>A, NG_033272.2:g.138447G>A, NM_020774.4:c.1868G>A, NM_020774.3:c.1868G>A, XM_011526098.2:c.398G>A, XM_011526098.1:c.398G>A, XM_047437676.1:c.1619G>A, NP_065825.1:p.Trp623Ter, XP_011524400.1:p.Trp133Ter, XP_047293632.1:p.Trp540Ter

Select item 14861742763.

rs1486174276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:21844219 (GRCh38)
18:19424180 (GRCh37)
Canonical SPDI:: NC_000018.10:21844218:A:T
Gene:: MIB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.21844219A>T, NC_000018.9:g.19424180A>T, NG_033272.2:g.144263A>T, NM_020774.4:c.2177A>T, NM_020774.3:c.2177A>T, XM_011526098.2:c.707A>T, XM_011526098.1:c.707A>T, XM_047437676.1:c.1928A>T, NP_065825.1:p.Lys726Met, XP_011524400.1:p.Lys236Met, XP_047293632.1:p.Lys643Met

Select item 14857331844.

rs1485733184 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 18:21843175 (GRCh38)
18:19423136 (GRCh37)
Canonical SPDI:: NC_000018.10:21843174:C:G,NC_000018.10:21843174:C:T
Gene:: MIB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.21843175C>G, NC_000018.10:g.21843175C>T, NC_000018.9:g.19423136C>G, NC_000018.9:g.19423136C>T, NG_033272.2:g.143219C>G, NG_033272.2:g.143219C>T, NM_020774.4:c.2007C>G, NM_020774.4:c.2007C>T, NM_020774.3:c.2007C>G, NM_020774.3:c.2007C>T, XM_011526098.2:c.537C>G, XM_011526098.2:c.537C>T, XM_011526098.1:c.537C>G, XM_011526098.1:c.537C>T, XM_047437676.1:c.1758C>G, XM_047437676.1:c.1758C>T

Select item 14834890295.

rs1483489029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:21847025 (GRCh38)
18:19426986 (GRCh37)
Canonical SPDI:: NC_000018.10:21847024:G:A
Gene:: MIB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.21847025G>A, NC_000018.9:g.19426986G>A, NG_033272.2:g.147069G>A, NM_020774.4:c.2293G>A, NM_020774.3:c.2293G>A, XM_011526098.2:c.823G>A, XM_011526098.1:c.823G>A, XM_047437676.1:c.2044G>A, NP_065825.1:p.Asp765Asn, XP_011524400.1:p.Asp275Asn, XP_047293632.1:p.Asp682Asn

Select item 14834378696.

rs1483437869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:21857197 (GRCh38)
18:19437158 (GRCh37)
Canonical SPDI:: NC_000018.10:21857196:T:C
Gene:: MIB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_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_000018.10:g.21857197T>C, NC_000018.9:g.19437158T>C, NG_033272.2:g.157241T>C, NM_020774.4:c.2733T>C, NM_020774.3:c.2733T>C, XM_011526098.2:c.1263T>C, XM_011526098.1:c.1263T>C, XM_047437676.1:c.2484T>C

Select item 14826333807.

rs1482633380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:21849254 (GRCh38)
18:19429215 (GRCh37)
Canonical SPDI:: NC_000018.10:21849253:G:T
Gene:: MIB1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.21849254G>T, NC_000018.9:g.19429215G>T, NG_033272.2:g.149298G>T, NM_020774.4:c.2452G>T, NM_020774.3:c.2452G>T, XM_011526098.2:c.982G>T, XM_011526098.1:c.982G>T, XM_047437676.1:c.2203G>T, NP_065825.1:p.Glu818Ter, XP_011524400.1:p.Glu328Ter, XP_047293632.1:p.Glu735Ter

Select item 14820556658.

rs1482055665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 18:21858570 (GRCh38)
18:19438531 (GRCh37)
Canonical SPDI:: NC_000018.10:21858569:A:C,NC_000018.10:21858569:A:G
Gene:: MIB1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000028/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.21858570A>C, NC_000018.10:g.21858570A>G, NC_000018.9:g.19438531A>C, NC_000018.9:g.19438531A>G, NG_033272.2:g.158614A>C, NG_033272.2:g.158614A>G, NM_020774.4:c.2804A>C, NM_020774.4:c.2804A>G, NM_020774.3:c.2804A>C, NM_020774.3:c.2804A>G, XM_011526098.2:c.1334A>C, XM_011526098.2:c.1334A>G, XM_011526098.1:c.1334A>C, XM_011526098.1:c.1334A>G, XM_047437676.1:c.2555A>C, XM_047437676.1:c.2555A>G, NP_065825.1:p.Gln935Pro, NP_065825.1:p.Gln935Arg, XP_011524400.1:p.Gln445Pro, XP_011524400.1:p.Gln445Arg, XP_047293632.1:p.Gln852Pro, XP_047293632.1:p.Gln852Arg

Select item 14817999049.

rs1481799904 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:21864537 (GRCh38)
18:19444498 (GRCh37)
Canonical SPDI:: NC_000018.10:21864536:T:C
Gene:: MIB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21864537T>C, NC_000018.9:g.19444498T>C, NG_033272.2:g.164581T>C, NM_020774.4:c.2892T>C, NM_020774.3:c.2892T>C, XM_011526098.2:c.1422T>C, XM_011526098.1:c.1422T>C, XM_047437676.1:c.2643T>C

Select item 147645671710.

rs1476456717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:21815788 (GRCh38)
18:19395749 (GRCh37)
Canonical SPDI:: NC_000018.10:21815787:A:T
Gene:: MIB1 (Varview), LOC124904362 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21815788A>T, NC_000018.9:g.19395749A>T, NG_033272.2:g.115832A>T, NM_020774.4:c.1652A>T, NM_020774.3:c.1652A>T, XM_011526098.2:c.182A>T, XM_011526098.1:c.182A>T, XM_047437676.1:c.1403A>T, NP_065825.1:p.Asp551Val, XP_011524400.1:p.Asp61Val, XP_047293632.1:p.Asp468Val

Select item 147500267311.

rs1475002673 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21843197 (GRCh38)
18:19423158 (GRCh37)
Canonical SPDI:: NC_000018.10:21843196:C:T
Gene:: MIB1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000018.10:g.21843197C>T, NC_000018.9:g.19423158C>T, NG_033272.2:g.143241C>T, NM_020774.4:c.2029C>T, NM_020774.3:c.2029C>T, XM_011526098.2:c.559C>T, XM_011526098.1:c.559C>T, XM_047437676.1:c.1780C>T, NP_065825.1:p.Gln677Ter, XP_011524400.1:p.Gln187Ter, XP_047293632.1:p.Gln594Ter

Select item 147356472012.

rs1473564720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:21864546 (GRCh38)
18:19444507 (GRCh37)
Canonical SPDI:: NC_000018.10:21864545:A:G
Gene:: MIB1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21864546A>G, NC_000018.9:g.19444507A>G, NG_033272.2:g.164590A>G, NM_020774.4:c.2901A>G, NM_020774.3:c.2901A>G, XM_011526098.2:c.1431A>G, XM_011526098.1:c.1431A>G, XM_047437676.1:c.2652A>G

Select item 147200748913.

rs1472007489 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 18:21819562 (GRCh38)
18:19399523 (GRCh37)
Canonical SPDI:: NC_000018.10:21819561:TTTT:TTT
Gene:: MIB1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21819565del, NC_000018.9:g.19399526del, NG_033272.2:g.119609del, NM_020774.4:c.1748del, NM_020774.3:c.1748del, XM_011526098.2:c.278del, XM_011526098.1:c.278del, XM_047437676.1:c.1499del, NP_065825.1:p.Leu583fs, XP_011524400.1:p.Leu93fs, XP_047293632.1:p.Leu500fs

Select item 146925501314.

rs1469255013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:21838495 (GRCh38)
18:19418456 (GRCh37)
Canonical SPDI:: NC_000018.10:21838494:C:T
Gene:: MIB1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21838495C>T, NC_000018.9:g.19418456C>T, NG_033272.2:g.138539C>T, NM_020774.4:c.1960C>T, NM_020774.3:c.1960C>T, XM_011526098.2:c.490C>T, XM_011526098.1:c.490C>T, XM_047437676.1:c.1711C>T, NP_065825.1:p.Gln654Ter, XP_011524400.1:p.Gln164Ter, XP_047293632.1:p.Gln571Ter

Select item 146703177215.

rs1467031772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 18:21844130 (GRCh38)
18:19424092 (GRCh37)
Canonical SPDI:: NC_000018.10:21844130:AA:AAA
Gene:: MIB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.21844132dup, NC_000018.9:g.19424093dup, NG_033272.2:g.144176dup, NM_020774.4:c.2090dup, NM_020774.3:c.2090dup, XM_011526098.2:c.620dup, XM_011526098.1:c.620dup, XM_047437676.1:c.1841dup, NP_065825.1:p.Asp698fs, XP_011524400.1:p.Asp208fs, XP_047293632.1:p.Asp615fs

Select item 146382508716.

rs1463825087 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 18:21846966 (GRCh38)
18:19426927 (GRCh37)
Canonical SPDI:: NC_000018.10:21846965:A:
Gene:: MIB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21846966del, NC_000018.9:g.19426927del, NG_033272.2:g.147010del, NM_020774.4:c.2234del, NM_020774.3:c.2234del, XM_011526098.2:c.764del, XM_011526098.1:c.764del, XM_047437676.1:c.1985del, NP_065825.1:p.Gln745fs, XP_011524400.1:p.Gln255fs, XP_047293632.1:p.Gln662fs

Select item 146143609417.

rs1461436094 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 18:21844174 (GRCh38)
18:19424135 (GRCh37)
Canonical SPDI:: NC_000018.10:21844173:C:G
Gene:: MIB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21844174C>G, NC_000018.9:g.19424135C>G, NG_033272.2:g.144218C>G, NM_020774.4:c.2132C>G, NM_020774.3:c.2132C>G, XM_011526098.2:c.662C>G, XM_011526098.1:c.662C>G, XM_047437676.1:c.1883C>G, NP_065825.1:p.Thr711Ser, XP_011524400.1:p.Thr221Ser, XP_047293632.1:p.Thr628Ser

Select item 146126477518.

rs1461264775 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 18:21857133 (GRCh38)
18:19437095 (GRCh37)
Canonical SPDI:: NC_000018.10:21857133:T:TT
Gene:: MIB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000018.10:g.21857134dup, NC_000018.9:g.19437095dup, NG_033272.2:g.157178dup, NM_020774.4:c.2670dup, NM_020774.3:c.2670dup, XM_011526098.2:c.1200dup, XM_011526098.1:c.1200dup, XM_047437676.1:c.2421dup, NP_065825.1:p.Ala891fs, XP_011524400.1:p.Ala401fs, XP_047293632.1:p.Ala808fs

Select item 146083892619.

rs1460838926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:21843202 (GRCh38)
18:19423163 (GRCh37)
Canonical SPDI:: NC_000018.10:21843201:T:C
Gene:: MIB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.21843202T>C, NC_000018.9:g.19423163T>C, NG_033272.2:g.143246T>C, NM_020774.4:c.2034T>C, NM_020774.3:c.2034T>C, XM_011526098.2:c.564T>C, XM_011526098.1:c.564T>C, XM_047437676.1:c.1785T>C

Select item 145439723220.

rs1454397232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:21844150 (GRCh38)
18:19424111 (GRCh37)
Canonical SPDI:: NC_000018.10:21844149:T:C
Gene:: MIB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000342/1 (KOREAN)
C=0.000389/7 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000018.10:g.21844150T>C, NC_000018.9:g.19424111T>C, NG_033272.2:g.144194T>C, NM_020774.4:c.2108T>C, NM_020774.3:c.2108T>C, XM_011526098.2:c.638T>C, XM_011526098.1:c.638T>C, XM_047437676.1:c.1859T>C, NP_065825.1:p.Leu703Ser, XP_011524400.1:p.Leu213Ser, XP_047293632.1:p.Leu620Ser

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