SNP Links for Protein (Select 13376874) - SNP

Links from Protein

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Select item 14900927261.

rs1490092726 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31719244 (GRCh38)
6:31687021 (GRCh37)
Canonical SPDI:: NC_000006.12:31719243:T:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.31719244T>C, NC_000006.11:g.31687021T>C, NG_029044.2:g.901T>C, NT_113891.3:g.3196532T>C, NT_113891.2:g.3196638T>C, NT_167249.2:g.3018540T>C, NT_167249.1:g.3017838T>C, NT_167247.2:g.3061119T>C, NT_167247.1:g.3066704T>C, NT_167246.2:g.3024290T>C, NT_167246.1:g.3029910T>C, NT_167245.2:g.2967006T>C, NT_167245.1:g.2972591T>C, NT_167248.2:g.2975058T>C, NT_167248.1:g.2980654T>C, NM_025261.3:c.230A>G, NM_025261.2:c.230A>G, NP_079537.1:p.Asn77Ser

Select item 14888786332.

rs1488878633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31719281 (GRCh38)
6:31687058 (GRCh37)
Canonical SPDI:: NC_000006.12:31719280:A:G
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (ExAC)
G=0.000012/3 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.31719281A>G, NC_000006.11:g.31687058A>G, NG_029044.2:g.938A>G, NT_113891.3:g.3196569A>G, NT_113891.2:g.3196675A>G, NT_167249.2:g.3018577A>G, NT_167249.1:g.3017875A>G, NT_167247.2:g.3061156A>G, NT_167247.1:g.3066741A>G, NT_167246.2:g.3024327A>G, NT_167246.1:g.3029947A>G, NT_167245.2:g.2967043A>G, NT_167245.1:g.2972628A>G, NT_167248.2:g.2975095A>G, NT_167248.1:g.2980691A>G, NM_025261.3:c.193T>C, NM_025261.2:c.193T>C, NP_079537.1:p.Cys65Arg

Select item 14827626023.

rs1482762602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:31719178 (GRCh38)
6:31686955 (GRCh37)
Canonical SPDI:: NC_000006.12:31719177:C:A
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_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_000006.12:g.31719178C>A, NC_000006.11:g.31686955C>A, NG_029044.2:g.835C>A, NT_113891.3:g.3196466C>A, NT_113891.2:g.3196572C>A, NT_167249.2:g.3018474C>A, NT_167249.1:g.3017772C>A, NT_167247.2:g.3061053C>A, NT_167247.1:g.3066638C>A, NT_167246.2:g.3024224C>A, NT_167246.1:g.3029844C>A, NT_167245.2:g.2966940C>A, NT_167245.1:g.2972525C>A, NT_167248.2:g.2974992C>A, NT_167248.1:g.2980588C>A, NM_025261.3:c.296G>T, NM_025261.2:c.296G>T, NP_079537.1:p.Ser99Ile

Select item 14817069654.

rs1481706965 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:31719185 (GRCh38)
6:31686962 (GRCh37)
Canonical SPDI:: NC_000006.12:31719184:AG:
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31719185_31719186del, NC_000006.11:g.31686962_31686963del, NG_029044.2:g.842_843del, NT_113891.3:g.3196473_3196474del, NT_113891.2:g.3196579_3196580del, NT_167249.2:g.3018481_3018482del, NT_167249.1:g.3017779_3017780del, NT_167247.2:g.3061060_3061061del, NT_167247.1:g.3066645_3066646del, NT_167246.2:g.3024231_3024232del, NT_167246.1:g.3029851_3029852del, NT_167245.2:g.2966947_2966948del, NT_167245.1:g.2972532_2972533del, NT_167248.2:g.2974999_2975000del, NT_167248.1:g.2980595_2980596del, NM_025261.3:c.288_289del, NM_025261.2:c.288_289del, NP_079537.1:p.Asn96fs

Select item 14711312915.

rs1471131291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31719114 (GRCh38)
6:31686891 (GRCh37)
Canonical SPDI:: NC_000006.12:31719113:G:A
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.31719114G>A, NC_000006.11:g.31686891G>A, NG_029044.2:g.771G>A, NT_113891.3:g.3196402G>A, NT_113891.2:g.3196508G>A, NT_167249.2:g.3018410G>A, NT_167249.1:g.3017708G>A, NT_167247.2:g.3060989G>A, NT_167247.1:g.3066574G>A, NT_167246.2:g.3024160G>A, NT_167246.1:g.3029780G>A, NT_167245.2:g.2966876G>A, NT_167245.1:g.2972461G>A, NT_167248.2:g.2974928G>A, NT_167248.1:g.2980524G>A, NM_025261.3:c.360C>T, NM_025261.2:c.360C>T

Select item 14672857626.

rs1467285762 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:31720104 (GRCh38)
6:31687881 (GRCh37)
Canonical SPDI:: NC_000006.12:31720103:T:A,NC_000006.12:31720103:T:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.31720104T>A, NC_000006.12:g.31720104T>C, NC_000006.11:g.31687881T>A, NC_000006.11:g.31687881T>C, NG_029044.2:g.1761T>A, NG_029044.2:g.1761T>C, NT_113891.3:g.3197392T>A, NT_113891.3:g.3197392T>C, NT_113891.2:g.3197498T>A, NT_113891.2:g.3197498T>C, NT_167249.2:g.3019400T>A, NT_167249.2:g.3019400T>C, NT_167249.1:g.3018698T>A, NT_167249.1:g.3018698T>C, NT_167247.2:g.3061979T>A, NT_167247.2:g.3061979T>C, NT_167247.1:g.3067564T>A, NT_167247.1:g.3067564T>C, NT_167246.2:g.3025150T>A, NT_167246.2:g.3025150T>C, NT_167246.1:g.3030770T>A, NT_167246.1:g.3030770T>C, NT_167245.2:g.2967866T>A, NT_167245.2:g.2967866T>C, NT_167245.1:g.2973451T>A, NT_167245.1:g.2973451T>C, NT_167248.2:g.2975918T>A, NT_167248.2:g.2975918T>C, NT_167248.1:g.2981514T>A, NT_167248.1:g.2981514T>C, NM_025261.3:c.152A>T, NM_025261.3:c.152A>G, NM_025261.2:c.152A>T, NM_025261.2:c.152A>G, NP_079537.1:p.His51Leu, NP_079537.1:p.His51Arg

Select item 14666459777.

rs1466645977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31719288 (GRCh38)
6:31687065 (GRCh37)
Canonical SPDI:: NC_000006.12:31719287:A:G
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.31719288A>G, NC_000006.11:g.31687065A>G, NG_029044.2:g.945A>G, NT_113891.3:g.3196576A>G, NT_113891.2:g.3196682A>G, NT_167249.2:g.3018584A>G, NT_167249.1:g.3017882A>G, NT_167247.2:g.3061163A>G, NT_167247.1:g.3066748A>G, NT_167246.2:g.3024334A>G, NT_167246.1:g.3029954A>G, NT_167245.2:g.2967050A>G, NT_167245.1:g.2972635A>G, NT_167248.2:g.2975102A>G, NT_167248.1:g.2980698A>G, NM_025261.3:c.186T>C, NM_025261.2:c.186T>C

Select item 14443071158.

rs1444307115 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31720103 (GRCh38)
6:31687880 (GRCh37)
Canonical SPDI:: NC_000006.12:31720102:A:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31720103A>C, NC_000006.11:g.31687880A>C, NG_029044.2:g.1760A>C, NT_113891.3:g.3197391A>C, NT_113891.2:g.3197497A>C, NT_167249.2:g.3019399A>C, NT_167249.1:g.3018697A>C, NT_167247.2:g.3061978A>C, NT_167247.1:g.3067563A>C, NT_167246.2:g.3025149A>C, NT_167246.1:g.3030769A>C, NT_167245.2:g.2967865A>C, NT_167245.1:g.2973450A>C, NT_167248.2:g.2975917A>C, NT_167248.1:g.2981513A>C, NM_025261.3:c.153T>G, NM_025261.2:c.153T>G, NP_079537.1:p.His51Gln

Select item 14289043229.

rs1428904322 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31719129 (GRCh38)
6:31686906 (GRCh37)
Canonical SPDI:: NC_000006.12:31719128:G:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31719129G>C, NC_000006.11:g.31686906G>C, NG_029044.2:g.786G>C, NT_113891.3:g.3196417G>C, NT_113891.2:g.3196523G>C, NT_167249.2:g.3018425G>C, NT_167249.1:g.3017723G>C, NT_167247.2:g.3061004G>C, NT_167247.1:g.3066589G>C, NT_167246.2:g.3024175G>C, NT_167246.1:g.3029795G>C, NT_167245.2:g.2966891G>C, NT_167245.1:g.2972476G>C, NT_167248.2:g.2974943G>C, NT_167248.1:g.2980539G>C, NM_025261.3:c.345C>G, NM_025261.2:c.345C>G

Select item 142465116310.

rs1424651163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:31720094 (GRCh38)
6:31687871 (GRCh37)
Canonical SPDI:: NC_000006.12:31720093:A:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00006/2 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000012/3 (GnomAD_exomes)
C=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.31720094A>C, NC_000006.11:g.31687871A>C, NG_029044.2:g.1751A>C, NT_113891.3:g.3197382A>C, NT_113891.2:g.3197488A>C, NT_167249.2:g.3019390A>C, NT_167249.1:g.3018688A>C, NT_167247.2:g.3061969A>C, NT_167247.1:g.3067554A>C, NT_167246.2:g.3025140A>C, NT_167246.1:g.3030760A>C, NT_167245.2:g.2967856A>C, NT_167245.1:g.2973441A>C, NT_167248.2:g.2975908A>C, NT_167248.1:g.2981504A>C, NM_025261.3:c.162T>G, NM_025261.2:c.162T>G

Select item 142427115911.

rs1424271159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:31719265 (GRCh38)
6:31687042 (GRCh37)
Canonical SPDI:: NC_000006.12:31719264:T:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31719265T>C, NC_000006.11:g.31687042T>C, NG_029044.2:g.922T>C, NT_113891.3:g.3196553T>C, NT_113891.2:g.3196659T>C, NT_167249.2:g.3018561T>C, NT_167249.1:g.3017859T>C, NT_167247.2:g.3061140T>C, NT_167247.1:g.3066725T>C, NT_167246.2:g.3024311T>C, NT_167246.1:g.3029931T>C, NT_167245.2:g.2967027T>C, NT_167245.1:g.2972612T>C, NT_167248.2:g.2975079T>C, NT_167248.1:g.2980675T>C, NM_025261.3:c.209A>G, NM_025261.2:c.209A>G, NP_079537.1:p.Glu70Gly

Select item 141995800212.

rs1419958002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31721632 (GRCh38)
6:31689409 (GRCh37)
Canonical SPDI:: NC_000006.12:31721631:G:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31721632G>C, NC_000006.11:g.31689409G>C, NG_029044.2:g.3289G>C, NT_113891.3:g.3198920G>C, NT_113891.2:g.3199026G>C, NT_167249.2:g.3020928G>C, NT_167249.1:g.3020226G>C, NT_167247.2:g.3063507G>C, NT_167247.1:g.3069092G>C, NT_167246.2:g.3026678G>C, NT_167246.1:g.3032298G>C, NT_167245.2:g.2969394G>C, NT_167245.1:g.2974979G>C, NT_167248.2:g.2977446G>C, NT_167248.1:g.2983042G>C, NM_025261.3:c.48C>G, NM_025261.2:c.48C>G

Select item 141883587713.

rs1418835877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31720203 (GRCh38)
6:31687980 (GRCh37)
Canonical SPDI:: NC_000006.12:31720202:G:T
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_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_000006.12:g.31720203G>T, NC_000006.11:g.31687980G>T, NG_029044.2:g.1860G>T, NT_113891.3:g.3197491G>T, NT_113891.2:g.3197597G>T, NT_167249.2:g.3019499G>T, NT_167249.1:g.3018797G>T, NT_167247.2:g.3062078G>T, NT_167247.1:g.3067663G>T, NT_167246.2:g.3025249G>T, NT_167246.1:g.3030869G>T, NT_167245.2:g.2967965G>T, NT_167245.1:g.2973550G>T, NT_167248.2:g.2976017G>T, NT_167248.1:g.2981613G>T, NM_025261.3:c.53C>A, NM_025261.2:c.53C>A, NP_079537.1:p.Ala18Asp

Select item 141251398714.

rs1412513987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31719254 (GRCh38)
6:31687031 (GRCh37)
Canonical SPDI:: NC_000006.12:31719253:C:T
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31719254C>T, NC_000006.11:g.31687031C>T, NG_029044.2:g.911C>T, NT_113891.3:g.3196542C>T, NT_113891.2:g.3196648C>T, NT_167249.2:g.3018550C>T, NT_167249.1:g.3017848C>T, NT_167247.2:g.3061129C>T, NT_167247.1:g.3066714C>T, NT_167246.2:g.3024300C>T, NT_167246.1:g.3029920C>T, NT_167245.2:g.2967016C>T, NT_167245.1:g.2972601C>T, NT_167248.2:g.2975068C>T, NT_167248.1:g.2980664C>T, NM_025261.3:c.220G>A, NM_025261.2:c.220G>A, NP_079537.1:p.Glu74Lys

Select item 140868091815.

rs1408680918 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:31719121 (GRCh38)
6:31686898 (GRCh37)
Canonical SPDI:: NC_000006.12:31719120:C:G,NC_000006.12:31719120:C:T
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/1 (ExAC)
HGVS:: NC_000006.12:g.31719121C>G, NC_000006.12:g.31719121C>T, NC_000006.11:g.31686898C>G, NC_000006.11:g.31686898C>T, NG_029044.2:g.778C>G, NG_029044.2:g.778C>T, NT_113891.3:g.3196409C>G, NT_113891.3:g.3196409C>T, NT_113891.2:g.3196515C>G, NT_113891.2:g.3196515C>T, NT_167249.2:g.3018417C>G, NT_167249.2:g.3018417C>T, NT_167249.1:g.3017715C>G, NT_167249.1:g.3017715C>T, NT_167247.2:g.3060996C>G, NT_167247.2:g.3060996C>T, NT_167247.1:g.3066581C>G, NT_167247.1:g.3066581C>T, NT_167246.2:g.3024167C>G, NT_167246.2:g.3024167C>T, NT_167246.1:g.3029787C>G, NT_167246.1:g.3029787C>T, NT_167245.2:g.2966883C>G, NT_167245.2:g.2966883C>T, NT_167245.1:g.2972468C>G, NT_167245.1:g.2972468C>T, NT_167248.2:g.2974935C>G, NT_167248.2:g.2974935C>T, NT_167248.1:g.2980531C>G, NT_167248.1:g.2980531C>T, NM_025261.3:c.353G>C, NM_025261.3:c.353G>A, NM_025261.2:c.353G>C, NM_025261.2:c.353G>A, NP_079537.1:p.Gly118Ala, NP_079537.1:p.Gly118Asp

Select item 140533673716.

rs1405336737 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31720113 (GRCh38)
6:31687890 (GRCh37)
Canonical SPDI:: NC_000006.12:31720112:A:G
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31720113A>G, NC_000006.11:g.31687890A>G, NG_029044.2:g.1770A>G, NT_113891.3:g.3197401A>G, NT_113891.2:g.3197507A>G, NT_167249.2:g.3019409A>G, NT_167249.1:g.3018707A>G, NT_167247.2:g.3061988A>G, NT_167247.1:g.3067573A>G, NT_167246.2:g.3025159A>G, NT_167246.1:g.3030779A>G, NT_167245.2:g.2967875A>G, NT_167245.1:g.2973460A>G, NT_167248.2:g.2975927A>G, NT_167248.1:g.2981523A>G, NM_025261.3:c.143T>C, NM_025261.2:c.143T>C, NP_079537.1:p.Leu48Pro

Select item 140435921317.

rs1404359213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:31719206 (GRCh38)
6:31686983 (GRCh37)
Canonical SPDI:: NC_000006.12:31719205:T:G
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000006.12:g.31719206T>G, NC_000006.11:g.31686983T>G, NG_029044.2:g.863T>G, NT_113891.3:g.3196494T>G, NT_113891.2:g.3196600T>G, NT_167249.2:g.3018502T>G, NT_167249.1:g.3017800T>G, NT_167247.2:g.3061081T>G, NT_167247.1:g.3066666T>G, NT_167246.2:g.3024252T>G, NT_167246.1:g.3029872T>G, NT_167245.2:g.2966968T>G, NT_167245.1:g.2972553T>G, NT_167248.2:g.2975020T>G, NT_167248.1:g.2980616T>G, NM_025261.3:c.268A>C, NM_025261.2:c.268A>C, NP_079537.1:p.Thr90Pro

Select item 139776286018.

rs1397762860 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTC [Show Flanks]
Chromosome:: 6:31721672 (GRCh38)
6:31689450 (GRCh37)
Canonical SPDI:: NC_000006.12:31721672:CTTTC:CTTTCTTTC
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,upstream_transcript_variant,intron_variant,initiator_codon_variant
Validated:: by frequency,by alfa
MAF:: CTTTCTTTC=0./0 (ALFA)
CTTT=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31721674_31721677dup, NC_000006.11:g.31689451_31689454dup, NG_029044.2:g.3331_3334dup, NT_113891.3:g.3198962_3198965dup, NT_113891.2:g.3199068_3199071dup, NT_167249.2:g.3020970_3020973dup, NT_167249.1:g.3020268_3020271dup, NT_167247.2:g.3063549_3063552dup, NT_167247.1:g.3069134_3069137dup, NT_167246.2:g.3026720_3026723dup, NT_167246.1:g.3032340_3032343dup, NT_167245.2:g.2969436_2969439dup, NT_167245.1:g.2975021_2975024dup, NT_167248.2:g.2977488_2977491dup, NT_167248.1:g.2983084_2983087dup, NM_025261.3:c.4_7dup, NM_025261.2:c.4_7dup, NP_079537.1:p.Ala3fs

Select item 138468354119.

rs1384683541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:31719194 (GRCh38)
6:31686971 (GRCh37)
Canonical SPDI:: NC_000006.12:31719193:T:A
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31719194T>A, NC_000006.11:g.31686971T>A, NG_029044.2:g.851T>A, NT_113891.3:g.3196482T>A, NT_113891.2:g.3196588T>A, NT_167249.2:g.3018490T>A, NT_167249.1:g.3017788T>A, NT_167247.2:g.3061069T>A, NT_167247.1:g.3066654T>A, NT_167246.2:g.3024240T>A, NT_167246.1:g.3029860T>A, NT_167245.2:g.2966956T>A, NT_167245.1:g.2972541T>A, NT_167248.2:g.2975008T>A, NT_167248.1:g.2980604T>A, NM_025261.3:c.280A>T, NM_025261.2:c.280A>T, NP_079537.1:p.Lys94Ter

Select item 137138562520.

rs1371385625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31720101 (GRCh38)
6:31687878 (GRCh37)
Canonical SPDI:: NC_000006.12:31720100:G:C
Gene:: MPIG6B (Varview), LY6G6C (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31720101G>C, NC_000006.11:g.31687878G>C, NG_029044.2:g.1758G>C, NT_113891.3:g.3197389G>C, NT_113891.2:g.3197495G>C, NT_167249.2:g.3019397G>C, NT_167249.1:g.3018695G>C, NT_167247.2:g.3061976G>C, NT_167247.1:g.3067561G>C, NT_167246.2:g.3025147G>C, NT_167246.1:g.3030767G>C, NT_167245.2:g.2967863G>C, NT_167245.1:g.2973448G>C, NT_167248.2:g.2975915G>C, NT_167248.1:g.2981511G>C, NM_025261.3:c.155C>G, NM_025261.2:c.155C>G, NP_079537.1:p.Ala52Gly

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