SNP Links for Protein (Select 56806675) - SNP

Links from Protein

Items: 1 to 20 of 153

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Select item 14870630831.

rs1487063083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:42890773 (GRCh38)
6:42858511 (GRCh37)
Canonical SPDI:: NC_000006.12:42890772:T:G
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42890773T>G, NC_000006.11:g.42858511T>G, NM_001008739.2:c.16A>C, NM_001008739.1:c.16A>C, NP_001008739.1:p.Ser6Arg

Select item 14843176582.

rs1484317658 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:42890669 (GRCh38)
6:42858407 (GRCh37)
Canonical SPDI:: NC_000006.12:42890668:G:C
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42890669G>C, NC_000006.11:g.42858407G>C, NM_001008739.2:c.120C>G, NM_001008739.1:c.120C>G

Select item 14823258163.

rs1482325816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42890775 (GRCh38)
6:42858513 (GRCh37)
Canonical SPDI:: NC_000006.12:42890774:C:T
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000006.12:g.42890775C>T, NC_000006.11:g.42858513C>T, NM_001008739.2:c.14G>A, NM_001008739.1:c.14G>A, NP_001008739.1:p.Arg5His

Select item 14748700324.

rs1474870032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:42890745 (GRCh38)
6:42858483 (GRCh37)
Canonical SPDI:: NC_000006.12:42890744:G:C
Gene:: C6orf226 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42890745G>C, NC_000006.11:g.42858483G>C, NM_001008739.2:c.44C>G, NM_001008739.1:c.44C>G, NP_001008739.1:p.Ala15Gly

Select item 14663621815.

rs1466362181 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:42890557 (GRCh38)
6:42858296 (GRCh37)
Canonical SPDI:: NC_000006.12:42890557:T:TT
Gene:: C6orf226 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.42890558dup, NC_000006.11:g.42858296dup, NM_001008739.2:c.231dup, NM_001008739.1:c.231dup, NP_001008739.1:p.Gly78fs

Select item 14479087526.

rs1447908752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42890623 (GRCh38)
6:42858361 (GRCh37)
Canonical SPDI:: NC_000006.12:42890622:G:A
Gene:: C6orf226 (Varview)
Functional Consequence:: missense_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_000006.12:g.42890623G>A, NC_000006.11:g.42858361G>A, NM_001008739.2:c.166C>T, NM_001008739.1:c.166C>T, NP_001008739.1:p.Arg56Trp

Select item 14415718537.

rs1441571853 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:42890532 (GRCh38)
6:42858270 (GRCh37)
Canonical SPDI:: NC_000006.12:42890531:A:G
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.42890532A>G, NC_000006.11:g.42858270A>G, NM_001008739.2:c.257T>C, NM_001008739.1:c.257T>C, NP_001008739.1:p.Leu86Ser

Select item 14414128898.

rs1441412889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42890600 (GRCh38)
6:42858338 (GRCh37)
Canonical SPDI:: NC_000006.12:42890599:G:A
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42890600G>A, NC_000006.11:g.42858338G>A, NM_001008739.2:c.189C>T, NM_001008739.1:c.189C>T

Select item 14367589789.

rs1436758978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:42890547 (GRCh38)
6:42858285 (GRCh37)
Canonical SPDI:: NC_000006.12:42890546:G:A,NC_000006.12:42890546:G:C
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
C=0.001667/1 (NorthernSweden)
HGVS:: NC_000006.12:g.42890547G>A, NC_000006.12:g.42890547G>C, NC_000006.11:g.42858285G>A, NC_000006.11:g.42858285G>C, NM_001008739.2:c.242C>T, NM_001008739.2:c.242C>G, NM_001008739.1:c.242C>T, NM_001008739.1:c.242C>G, NP_001008739.1:p.Pro81Leu, NP_001008739.1:p.Pro81Arg

Select item 143223653010.

rs1432236530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 6:42890743 (GRCh38)
6:42858481 (GRCh37)
Canonical SPDI:: NC_000006.12:42890742:A:C,NC_000006.12:42890742:A:T
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000006.12:g.42890743A>C, NC_000006.12:g.42890743A>T, NC_000006.11:g.42858481A>C, NC_000006.11:g.42858481A>T, NM_001008739.2:c.46T>G, NM_001008739.2:c.46T>A, NM_001008739.1:c.46T>G, NM_001008739.1:c.46T>A, NP_001008739.1:p.Ser16Ala, NP_001008739.1:p.Ser16Thr

Select item 142794901311.

rs1427949013 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:42890586 (GRCh38)
6:42858324 (GRCh37)
Canonical SPDI:: NC_000006.12:42890585:T:G
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42890586T>G, NC_000006.11:g.42858324T>G, NM_001008739.2:c.203A>C, NM_001008739.1:c.203A>C, NP_001008739.1:p.Glu68Ala

Select item 142650886012.

rs1426508860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42890638 (GRCh38)
6:42858376 (GRCh37)
Canonical SPDI:: NC_000006.12:42890637:C:T
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42890638C>T, NC_000006.11:g.42858376C>T, NM_001008739.2:c.151G>A, NM_001008739.1:c.151G>A, NP_001008739.1:p.Ala51Thr

Select item 142020884413.

rs1420208844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:42890720 (GRCh38)
6:42858458 (GRCh37)
Canonical SPDI:: NC_000006.12:42890719:C:G
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42890720C>G, NC_000006.11:g.42858458C>G, NM_001008739.2:c.69G>C, NM_001008739.1:c.69G>C, NP_001008739.1:p.Gln23His

Select item 141515465614.

rs1415154656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42890762 (GRCh38)
6:42858500 (GRCh37)
Canonical SPDI:: NC_000006.12:42890761:G:A
Gene:: C6orf226 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.42890762G>A, NC_000006.11:g.42858500G>A, NM_001008739.2:c.27C>T, NM_001008739.1:c.27C>T

Select item 141197477615.

rs1411974776 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCCCAGGGCTTGGGCCTCCGCGGC>- [Show Flanks]
Chromosome:: 6:42890603 (GRCh38)
6:42858341 (GRCh37)
Canonical SPDI:: NC_000006.12:42890595:CCGCGGCCTCCCAGGGCTTGGGCCTCCGCGGC:CCGCGGC
Gene:: C6orf226 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCGCGGC=0./0 (ALFA)
HGVS:: NC_000006.12:g.42890603_42890627del, NC_000006.11:g.42858341_42858365del, NM_001008739.2:c.169_193del, NM_001008739.1:c.169_193del, NP_001008739.1:p.Arg57fs

Select item 139854654416.

rs1398546544 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:42890498 (GRCh38)
6:42858236 (GRCh37)
Canonical SPDI:: NC_000006.12:42890496:TAT:T
Gene:: C6orf226 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.42890498_42890499del, NC_000006.11:g.42858236_42858237del, NM_001008739.2:c.291_292del, NM_001008739.1:c.291_292del, NP_001008739.1:p.Thr98fs

Select item 139829136317.

rs1398291363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42890685 (GRCh38)
6:42858423 (GRCh37)
Canonical SPDI:: NC_000006.12:42890684:G:A
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.42890685G>A, NC_000006.11:g.42858423G>A, NM_001008739.2:c.104C>T, NM_001008739.1:c.104C>T, NP_001008739.1:p.Pro35Leu

Select item 137956293918.

rs1379562939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:42890627 (GRCh38)
6:42858365 (GRCh37)
Canonical SPDI:: NC_000006.12:42890626:C:T
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.42890627C>T, NC_000006.11:g.42858365C>T, NM_001008739.2:c.162G>A, NM_001008739.1:c.162G>A

Select item 137834322019.

rs1378343220 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:42890639 (GRCh38)
6:42858377 (GRCh37)
Canonical SPDI:: NC_000006.12:42890638:T:C
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.42890639T>C, NC_000006.11:g.42858377T>C, NM_001008739.2:c.150A>G, NM_001008739.1:c.150A>G

Select item 137527149520.

rs1375271495 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:42890610 (GRCh38)
6:42858348 (GRCh37)
Canonical SPDI:: NC_000006.12:42890609:G:A
Gene:: C6orf226 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.42890610G>A, NC_000006.11:g.42858348G>A, NM_001008739.2:c.179C>T, NM_001008739.1:c.179C>T, NP_001008739.1:p.Pro60Leu

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