SNP Links for Protein (Select 554790312) - SNP

Links from Protein

Items: 1 to 20 of 99

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Select item 14799373611.

rs1479937361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8948423 (GRCh38)
11:8969970 (GRCh37)
Canonical SPDI:: NC_000011.10:8948422:C:T
Gene:: TMEM9B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8948423C>T, NC_000011.9:g.8969970C>T, NM_020644.3:c.494G>A, NM_020644.2:c.494G>A, NM_020644.1:c.494G>A, NM_001286094.2:c.272G>A, NM_001286094.1:c.272G>A, NM_001286095.2:c.272G>A, NM_001286095.1:c.272G>A, NP_065695.1:p.Arg165Gln, NP_001273023.1:p.Arg91Gln, NP_001273024.1:p.Arg91Gln

Select item 14786848402.

rs1478684840 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8953233 (GRCh38)
11:8974780 (GRCh37)
Canonical SPDI:: NC_000011.10:8953232:T:C
Gene:: TMEM9B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.8953233T>C, NC_000011.9:g.8974780T>C, NM_020644.3:c.411A>G, NM_020644.2:c.411A>G, NM_020644.1:c.411A>G, NM_001286094.2:c.189A>G, NM_001286094.1:c.189A>G, NM_001286095.2:c.189A>G, NM_001286095.1:c.189A>G

Select item 14617277823.

rs1461727782 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8948356 (GRCh38)
11:8969903 (GRCh37)
Canonical SPDI:: NC_000011.10:8948355:T:C
Gene:: TMEM9B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8948356T>C, NC_000011.9:g.8969903T>C, NM_020644.3:c.561A>G, NM_020644.2:c.561A>G, NM_020644.1:c.561A>G, NM_001286094.2:c.339A>G, NM_001286094.1:c.339A>G, NM_001286095.2:c.339A>G, NM_001286095.1:c.339A>G

Select item 14601471414.

rs1460147141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8953331 (GRCh38)
11:8974878 (GRCh37)
Canonical SPDI:: NC_000011.10:8953330:T:C
Gene:: TMEM9B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8953331T>C, NC_000011.9:g.8974878T>C, NM_020644.3:c.313A>G, NM_020644.2:c.313A>G, NM_020644.1:c.313A>G, NM_001286094.2:c.91A>G, NM_001286094.1:c.91A>G, NM_001286095.2:c.91A>G, NM_001286095.1:c.91A>G, NP_065695.1:p.Ile105Val, NP_001273023.1:p.Ile31Val, NP_001273024.1:p.Ile31Val

Select item 14593772425.

rs1459377242 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:8956268 (GRCh38)
11:8977815 (GRCh37)
Canonical SPDI:: NC_000011.10:8956267:A:G
Gene:: TMEM9B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8956268A>G, NC_000011.9:g.8977815A>G, NM_020644.3:c.228T>C, NM_020644.2:c.228T>C, NM_020644.1:c.228T>C, NM_001286094.2:c.6T>C, NM_001286094.1:c.6T>C, NM_001286095.2:c.6T>C, NM_001286095.1:c.6T>C

Select item 14550030866.

rs1455003086 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:8948340 (GRCh38)
11:8969887 (GRCh37)
Canonical SPDI:: NC_000011.10:8948339:G:A,NC_000011.10:8948339:G:C
Gene:: TMEM9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.8948340G>A, NC_000011.10:g.8948340G>C, NC_000011.9:g.8969887G>A, NC_000011.9:g.8969887G>C, NM_020644.3:c.577C>T, NM_020644.3:c.577C>G, NM_020644.2:c.577C>T, NM_020644.2:c.577C>G, NM_020644.1:c.577C>T, NM_020644.1:c.577C>G, NM_001286094.2:c.355C>T, NM_001286094.2:c.355C>G, NM_001286094.1:c.355C>T, NM_001286094.1:c.355C>G, NM_001286095.2:c.355C>T, NM_001286095.2:c.355C>G, NM_001286095.1:c.355C>T, NM_001286095.1:c.355C>G, NP_065695.1:p.Arg193Trp, NP_065695.1:p.Arg193Gly, NP_001273023.1:p.Arg119Trp, NP_001273023.1:p.Arg119Gly, NP_001273024.1:p.Arg119Trp, NP_001273024.1:p.Arg119Gly

Select item 14393775607.

rs1439377560 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8953266 (GRCh38)
11:8974813 (GRCh37)
Canonical SPDI:: NC_000011.10:8953265:C:T
Gene:: TMEM9B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8953266C>T, NC_000011.9:g.8974813C>T, NM_020644.3:c.378G>A, NM_020644.2:c.378G>A, NM_020644.1:c.378G>A, NM_001286094.2:c.156G>A, NM_001286094.1:c.156G>A, NM_001286095.2:c.156G>A, NM_001286095.1:c.156G>A

Select item 14373169108.

rs1437316910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:8956228 (GRCh38)
11:8977775 (GRCh37)
Canonical SPDI:: NC_000011.10:8956227:C:G
Gene:: TMEM9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8956228C>G, NC_000011.9:g.8977775C>G, NM_020644.3:c.268G>C, NM_020644.2:c.268G>C, NM_020644.1:c.268G>C, NM_001286094.2:c.46G>C, NM_001286094.1:c.46G>C, NM_001286095.2:c.46G>C, NM_001286095.1:c.46G>C, NP_065695.1:p.Glu90Gln, NP_001273023.1:p.Glu16Gln, NP_001273024.1:p.Glu16Gln

Select item 14353693049.

rs1435369304 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8953226 (GRCh38)
11:8974773 (GRCh37)
Canonical SPDI:: NC_000011.10:8953225:T:C
Gene:: TMEM9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.8953226T>C, NC_000011.9:g.8974773T>C, NM_020644.3:c.418A>G, NM_020644.2:c.418A>G, NM_020644.1:c.418A>G, NM_001286094.2:c.196A>G, NM_001286094.1:c.196A>G, NM_001286095.2:c.196A>G, NM_001286095.1:c.196A>G, NP_065695.1:p.Ile140Val, NP_001273023.1:p.Ile66Val, NP_001273024.1:p.Ile66Val

Select item 140782509210.

rs1407825092 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8953217 (GRCh38)
11:8974764 (GRCh37)
Canonical SPDI:: NC_000011.10:8953216:C:T
Gene:: TMEM9B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.8953217C>T, NC_000011.9:g.8974764C>T, NM_020644.3:c.427G>A, NM_020644.2:c.427G>A, NM_020644.1:c.427G>A, NM_001286094.2:c.205G>A, NM_001286094.1:c.205G>A, NM_001286095.2:c.205G>A, NM_001286095.1:c.205G>A, NP_065695.1:p.Asp143Asn, NP_001273023.1:p.Asp69Asn, NP_001273024.1:p.Asp69Asn

Select item 140172851811.

rs1401728518 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8956252 (GRCh38)
11:8977799 (GRCh37)
Canonical SPDI:: NC_000011.10:8956251:C:T
Gene:: TMEM9B (Varview)
Functional Consequence:: 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_000011.10:g.8956252C>T, NC_000011.9:g.8977799C>T, NM_020644.3:c.244G>A, NM_020644.2:c.244G>A, NM_020644.1:c.244G>A, NM_001286094.2:c.22G>A, NM_001286094.1:c.22G>A, NM_001286095.2:c.22G>A, NM_001286095.1:c.22G>A, NP_065695.1:p.Val82Ile, NP_001273023.1:p.Val8Ile, NP_001273024.1:p.Val8Ile

Select item 139350183412.

rs1393501834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8948355 (GRCh38)
11:8969902 (GRCh37)
Canonical SPDI:: NC_000011.10:8948354:T:C
Gene:: TMEM9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8948355T>C, NC_000011.9:g.8969902T>C, NM_020644.3:c.562A>G, NM_020644.2:c.562A>G, NM_020644.1:c.562A>G, NM_001286094.2:c.340A>G, NM_001286094.1:c.340A>G, NM_001286095.2:c.340A>G, NM_001286095.1:c.340A>G, NP_065695.1:p.Lys188Glu, NP_001273023.1:p.Lys114Glu, NP_001273024.1:p.Lys114Glu

Select item 138980286913.

rs1389802869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:8948385 (GRCh38)
11:8969932 (GRCh37)
Canonical SPDI:: NC_000011.10:8948384:G:A,NC_000011.10:8948384:G:T
Gene:: TMEM9B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8948385G>A, NC_000011.10:g.8948385G>T, NC_000011.9:g.8969932G>A, NC_000011.9:g.8969932G>T, NM_020644.3:c.532C>T, NM_020644.3:c.532C>A, NM_020644.2:c.532C>T, NM_020644.2:c.532C>A, NM_020644.1:c.532C>T, NM_020644.1:c.532C>A, NM_001286094.2:c.310C>T, NM_001286094.2:c.310C>A, NM_001286094.1:c.310C>T, NM_001286094.1:c.310C>A, NM_001286095.2:c.310C>T, NM_001286095.2:c.310C>A, NM_001286095.1:c.310C>T, NM_001286095.1:c.310C>A, NP_065695.1:p.Arg178Cys, NP_065695.1:p.Arg178Ser, NP_001273023.1:p.Arg104Cys, NP_001273023.1:p.Arg104Ser, NP_001273024.1:p.Arg104Cys, NP_001273024.1:p.Arg104Ser

Select item 137110778114.

rs1371107781 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:8953281 (GRCh38)
11:8974828 (GRCh37)
Canonical SPDI:: NC_000011.10:8953280:A:C
Gene:: TMEM9B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.8953281A>C, NC_000011.9:g.8974828A>C, NM_020644.3:c.363T>G, NM_020644.2:c.363T>G, NM_020644.1:c.363T>G, NM_001286094.2:c.141T>G, NM_001286094.1:c.141T>G, NM_001286095.2:c.141T>G, NM_001286095.1:c.141T>G, NP_065695.1:p.Tyr121Ter, NP_001273023.1:p.Tyr47Ter, NP_001273024.1:p.Tyr47Ter

Select item 132786249115.

rs1327862491 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:8948371 (GRCh38)
11:8969918 (GRCh37)
Canonical SPDI:: NC_000011.10:8948370:T:C
Gene:: TMEM9B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8948371T>C, NC_000011.9:g.8969918T>C, NM_020644.3:c.546A>G, NM_020644.2:c.546A>G, NM_020644.1:c.546A>G, NM_001286094.2:c.324A>G, NM_001286094.1:c.324A>G, NM_001286095.2:c.324A>G, NM_001286095.1:c.324A>G

Select item 131594997716.

rs1315949977 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:8953286 (GRCh38)
11:8974833 (GRCh37)
Canonical SPDI:: NC_000011.10:8953285:CC:C
Gene:: TMEM9B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8953287del, NC_000011.9:g.8974834del, NM_020644.3:c.358del, NM_020644.2:c.358del, NM_020644.1:c.358del, NM_001286094.2:c.136del, NM_001286094.1:c.136del, NM_001286095.2:c.136del, NM_001286095.1:c.136del, NP_065695.1:p.Val120fs, NP_001273023.1:p.Val46fs, NP_001273024.1:p.Val46fs

Select item 130635112017.

rs1306351120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:8948386 (GRCh38)
11:8969933 (GRCh37)
Canonical SPDI:: NC_000011.10:8948385:C:T
Gene:: TMEM9B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.8948386C>T, NC_000011.9:g.8969933C>T, NM_020644.3:c.531G>A, NM_020644.2:c.531G>A, NM_020644.1:c.531G>A, NM_001286094.2:c.309G>A, NM_001286094.1:c.309G>A, NM_001286095.2:c.309G>A, NM_001286095.1:c.309G>A

Select item 130452186618.

rs1304521866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:8953311 (GRCh38)
11:8974858 (GRCh37)
Canonical SPDI:: NC_000011.10:8953310:A:G
Gene:: TMEM9B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.8953311A>G, NC_000011.9:g.8974858A>G, NM_020644.3:c.333T>C, NM_020644.2:c.333T>C, NM_020644.1:c.333T>C, NM_001286094.2:c.111T>C, NM_001286094.1:c.111T>C, NM_001286095.2:c.111T>C, NM_001286095.1:c.111T>C

Select item 129863638519.

rs1298636385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:8948473 (GRCh38)
11:8970020 (GRCh37)
Canonical SPDI:: NC_000011.10:8948472:A:T
Gene:: TMEM9B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.8948473A>T, NC_000011.9:g.8970020A>T, NM_020644.3:c.444T>A, NM_020644.2:c.444T>A, NM_020644.1:c.444T>A, NM_001286094.2:c.222T>A, NM_001286094.1:c.222T>A, NM_001286095.2:c.222T>A, NM_001286095.1:c.222T>A, NP_065695.1:p.Asp148Glu, NP_001273023.1:p.Asp74Glu, NP_001273024.1:p.Asp74Glu

Select item 129101864920.

rs1291018649 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:8953327 (GRCh38)
11:8974874 (GRCh37)
Canonical SPDI:: NC_000011.10:8953326:A:G
Gene:: TMEM9B (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_000011.10:g.8953327A>G, NC_000011.9:g.8974874A>G, NM_020644.3:c.317T>C, NM_020644.2:c.317T>C, NM_020644.1:c.317T>C, NM_001286094.2:c.95T>C, NM_001286094.1:c.95T>C, NM_001286095.2:c.95T>C, NM_001286095.1:c.95T>C, NP_065695.1:p.Ile106Thr, NP_001273023.1:p.Ile32Thr, NP_001273024.1:p.Ile32Thr

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