SNP Links for Protein (Select 46877102) - SNP

Links from Protein

Items: 1 to 20 of 191

<< First< Prev

Page of 10

Next >Last >>

Select item 14854152771.

rs1485415277 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161042200 (GRCh38)
1:161011990 (GRCh37)
Canonical SPDI:: NC_000001.11:161042199:G:A
Gene:: USF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
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_000001.11:g.161042200G>A, NC_000001.10:g.161011990G>A, NG_011612.1:g.8768C>T, NM_007122.5:c.192C>T, NM_007122.4:c.192C>T, NM_207005.3:c.15C>T, NM_207005.2:c.15C>T, NM_001276373.2:c.192C>T, NM_001276373.1:c.192C>T, XM_047429959.1:c.15C>T

Select item 14740890562.

rs1474089056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161041665 (GRCh38)
1:161011455 (GRCh37)
Canonical SPDI:: NC_000001.11:161041664:G:A
Gene:: USF1 (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_000001.11:g.161041665G>A, NC_000001.10:g.161011455G>A, NG_011612.1:g.9303C>T, NM_007122.5:c.458C>T, NM_007122.4:c.458C>T, NM_207005.3:c.281C>T, NM_207005.2:c.281C>T, NM_001276373.2:c.458C>T, NM_001276373.1:c.458C>T, XM_047429959.1:c.281C>T, NP_009053.1:p.Thr153Ile, NP_996888.1:p.Thr94Ile, NP_001263302.1:p.Thr153Ile, XP_047285915.1:p.Thr94Ile

Select item 14739363723.

rs1473936372 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161042144 (GRCh38)
1:161011934 (GRCh37)
Canonical SPDI:: NC_000001.11:161042143:C:G
Gene:: USF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161042144C>G, NC_000001.10:g.161011934C>G, NG_011612.1:g.8824G>C, NM_007122.5:c.248G>C, NM_007122.4:c.248G>C, NM_207005.3:c.71G>C, NM_207005.2:c.71G>C, NM_001276373.2:c.248G>C, NM_001276373.1:c.248G>C, XM_047429959.1:c.71G>C, NP_009053.1:p.Gly83Ala, NP_996888.1:p.Gly24Ala, NP_001263302.1:p.Gly83Ala, XP_047285915.1:p.Gly24Ala

Select item 14684766264.

rs1468476626 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161041721 (GRCh38)
1:161011511 (GRCh37)
Canonical SPDI:: NC_000001.11:161041720:C:T
Gene:: USF1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161041721C>T, NC_000001.10:g.161011511C>T, NG_011612.1:g.9247G>A, NM_007122.5:c.402G>A, NM_007122.4:c.402G>A, NM_207005.3:c.225G>A, NM_207005.2:c.225G>A, NM_001276373.2:c.402G>A, NM_001276373.1:c.402G>A, XM_047429959.1:c.225G>A

Select item 14622110755.

rs1462211075 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161039980 (GRCh38)
1:161009770 (GRCh37)
Canonical SPDI:: NC_000001.11:161039979:C:T
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161039980C>T, NC_000001.10:g.161009770C>T, NG_011612.1:g.10988G>A, NM_007122.5:c.873G>A, NM_007122.4:c.873G>A, NM_207005.3:c.696G>A, NM_207005.2:c.696G>A, NM_001276373.2:c.873G>A, NM_001276373.1:c.873G>A, XM_047429959.1:c.696G>A

Select item 14512999616.

rs1451299961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:161040299 (GRCh38)
1:161010089 (GRCh37)
Canonical SPDI:: NC_000001.11:161040298:T:A
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161040299T>A, NC_000001.10:g.161010089T>A, NG_011612.1:g.10669A>T, NM_007122.5:c.746A>T, NM_007122.4:c.746A>T, NM_207005.3:c.569A>T, NM_207005.2:c.569A>T, NM_001276373.2:c.746A>T, NM_001276373.1:c.746A>T, XM_047429959.1:c.569A>T, NP_009053.1:p.Asp249Val, NP_996888.1:p.Asp190Val, NP_001263302.1:p.Asp249Val, XP_047285915.1:p.Asp190Val

Select item 14507485317.

rs1450748531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161039946 (GRCh38)
1:161009736 (GRCh37)
Canonical SPDI:: NC_000001.11:161039945:C:T
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161039946C>T, NC_000001.10:g.161009736C>T, NG_011612.1:g.11022G>A, NM_007122.5:c.907G>A, NM_007122.4:c.907G>A, NM_207005.3:c.730G>A, NM_207005.2:c.730G>A, NM_001276373.2:c.907G>A, NM_001276373.1:c.907G>A, XM_047429959.1:c.730G>A, NP_009053.1:p.Val303Ile, NP_996888.1:p.Val244Ile, NP_001263302.1:p.Val303Ile, XP_047285915.1:p.Val244Ile

Select item 14458141618.

rs1445814161 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:161041336 (GRCh38)
1:161011126 (GRCh37)
Canonical SPDI:: NC_000001.11:161041335:T:G
Gene:: USF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.161041336T>G, NC_000001.10:g.161011126T>G, NG_011612.1:g.9632A>C, NM_007122.5:c.548A>C, NM_007122.4:c.548A>C, NM_207005.3:c.371A>C, NM_207005.2:c.371A>C, NM_001276373.2:c.548A>C, NM_001276373.1:c.548A>C, XM_047429959.1:c.371A>C, NP_009053.1:p.His183Pro, NP_996888.1:p.His124Pro, NP_001263302.1:p.His183Pro, XP_047285915.1:p.His124Pro

Select item 14422609249.

rs1442260924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161040824 (GRCh38)
1:161010614 (GRCh37)
Canonical SPDI:: NC_000001.11:161040823:C:G
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.161040824C>G, NC_000001.10:g.161010614C>G, NG_011612.1:g.10144G>C, NM_007122.5:c.609G>C, NM_007122.4:c.609G>C, NM_207005.3:c.432G>C, NM_207005.2:c.432G>C, NM_001276373.2:c.609G>C, NM_001276373.1:c.609G>C, XM_047429959.1:c.432G>C, NP_009053.1:p.Gln203His, NP_996888.1:p.Gln144His, NP_001263302.1:p.Gln203His, XP_047285915.1:p.Gln144His

Select item 142539731610.

rs1425397316 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:161042142 (GRCh38)
1:161011932 (GRCh37)
Canonical SPDI:: NC_000001.11:161042141:A:G
Gene:: USF1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.161042142A>G, NC_000001.10:g.161011932A>G, NG_011612.1:g.8826T>C, NM_007122.5:c.250T>C, NM_007122.4:c.250T>C, NM_207005.3:c.73T>C, NM_207005.2:c.73T>C, NM_001276373.2:c.250T>C, NM_001276373.1:c.250T>C, XM_047429959.1:c.73T>C, NP_009053.1:p.Tyr84His, NP_996888.1:p.Tyr25His, NP_001263302.1:p.Tyr84His, XP_047285915.1:p.Tyr25His

Select item 142438105411.

rs1424381054 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161042139 (GRCh38)
1:161011929 (GRCh37)
Canonical SPDI:: NC_000001.11:161042138:G:A
Gene:: USF1 (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_000001.11:g.161042139G>A, NC_000001.10:g.161011929G>A, NG_011612.1:g.8829C>T, NM_007122.5:c.253C>T, NM_007122.4:c.253C>T, NM_207005.3:c.76C>T, NM_207005.2:c.76C>T, NM_001276373.2:c.253C>T, NM_001276373.1:c.253C>T, XM_047429959.1:c.76C>T, NP_009053.1:p.Pro85Ser, NP_996888.1:p.Pro26Ser, NP_001263302.1:p.Pro85Ser, XP_047285915.1:p.Pro26Ser

Select item 141191154212.

rs1411911542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161041342 (GRCh38)
1:161011132 (GRCh37)
Canonical SPDI:: NC_000001.11:161041341:C:T
Gene:: USF1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161041342C>T, NC_000001.10:g.161011132C>T, NG_011612.1:g.9626G>A, NM_007122.5:c.542G>A, NM_007122.4:c.542G>A, NM_207005.3:c.365G>A, NM_207005.2:c.365G>A, NM_001276373.2:c.542G>A, NM_001276373.1:c.542G>A, XM_047429959.1:c.365G>A, NP_009053.1:p.Arg181Lys, NP_996888.1:p.Arg122Lys, NP_001263302.1:p.Arg181Lys, XP_047285915.1:p.Arg122Lys

Select item 140665538213.

rs1406655382 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTC>- [Show Flanks]
Chromosome:: 1:161040852 (GRCh38)
1:161010642 (GRCh37)
Canonical SPDI:: NC_000001.11:161040848:GTCGTC:GTC
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTCGTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161040849GTC[1], NC_000001.10:g.161010639GTC[1], NG_011612.1:g.10114GAC[1], NM_007122.5:c.579GAC[1], NM_007122.4:c.579GAC[1], NM_207005.3:c.402GAC[1], NM_207005.2:c.402GAC[1], NM_001276373.2:c.579GAC[1], NM_001276373.1:c.579GAC[1], XM_047429959.1:c.402GAC[1], NP_009053.1:p.Thr195del, NP_996888.1:p.Thr136del, NP_001263302.1:p.Thr195del, XP_047285915.1:p.Thr136del

Select item 140217220014.

rs1402172200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:161039964 (GRCh38)
1:161009754 (GRCh37)
Canonical SPDI:: NC_000001.11:161039963:G:A,NC_000001.11:161039963:G:T
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.161039964G>A, NC_000001.11:g.161039964G>T, NC_000001.10:g.161009754G>A, NC_000001.10:g.161009754G>T, NG_011612.1:g.11004C>T, NG_011612.1:g.11004C>A, NM_007122.5:c.889C>T, NM_007122.5:c.889C>A, NM_007122.4:c.889C>T, NM_007122.4:c.889C>A, NM_207005.3:c.712C>T, NM_207005.3:c.712C>A, NM_207005.2:c.712C>T, NM_207005.2:c.712C>A, NM_001276373.2:c.889C>T, NM_001276373.2:c.889C>A, NM_001276373.1:c.889C>T, NM_001276373.1:c.889C>A, XM_047429959.1:c.712C>T, XM_047429959.1:c.712C>A, NP_009053.1:p.Arg297Trp, NP_996888.1:p.Arg238Trp, NP_001263302.1:p.Arg297Trp, XP_047285915.1:p.Arg238Trp

Select item 138534580315.

rs1385345803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:161040209 (GRCh38)
1:161009999 (GRCh37)
Canonical SPDI:: NC_000001.11:161040208:C:T
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.161040209C>T, NC_000001.10:g.161009999C>T, NG_011612.1:g.10759G>A, NM_007122.5:c.836G>A, NM_007122.4:c.836G>A, NM_207005.3:c.659G>A, NM_207005.2:c.659G>A, NM_001276373.2:c.836G>A, NM_001276373.1:c.836G>A, XM_047429959.1:c.659G>A, NP_009053.1:p.Arg279Gln, NP_996888.1:p.Arg220Gln, NP_001263302.1:p.Arg279Gln, XP_047285915.1:p.Arg220Gln

Select item 137754826616.

rs1377548266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:161040608 (GRCh38)
1:161010398 (GRCh37)
Canonical SPDI:: NC_000001.11:161040607:C:G
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.161040608C>G, NC_000001.10:g.161010398C>G, NG_011612.1:g.10360G>C, NM_007122.5:c.682G>C, NM_007122.4:c.682G>C, NM_207005.3:c.505G>C, NM_207005.2:c.505G>C, NM_001276373.2:c.682G>C, NM_001276373.1:c.682G>C, XM_047429959.1:c.505G>C, NP_009053.1:p.Asp228His, NP_996888.1:p.Asp169His, NP_001263302.1:p.Asp228His, XP_047285915.1:p.Asp169His

Select item 137455843017.

rs1374558430 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161040257 (GRCh38)
1:161010047 (GRCh37)
Canonical SPDI:: NC_000001.11:161040256:T:C
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161040257T>C, NC_000001.10:g.161010047T>C, NG_011612.1:g.10711A>G, NM_007122.5:c.788A>G, NM_007122.4:c.788A>G, NM_207005.3:c.611A>G, NM_207005.2:c.611A>G, NM_001276373.2:c.788A>G, NM_001276373.1:c.788A>G, XM_047429959.1:c.611A>G, NP_009053.1:p.Glu263Gly, NP_996888.1:p.Glu204Gly, NP_001263302.1:p.Glu263Gly, XP_047285915.1:p.Glu204Gly

Select item 137444878518.

rs1374448785 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:161041734 (GRCh38)
1:161011524 (GRCh37)
Canonical SPDI:: NC_000001.11:161041733:CCCCC:CCCC
Gene:: USF1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.161041738del, NC_000001.10:g.161011528del, NG_011612.1:g.9234del, NM_007122.5:c.389del, NM_007122.4:c.389del, NM_207005.3:c.212del, NM_207005.2:c.212del, NM_001276373.2:c.389del, NM_001276373.1:c.389del, XM_047429959.1:c.212del, NP_009053.1:p.Gly130fs, NP_996888.1:p.Gly71fs, NP_001263302.1:p.Gly130fs, XP_047285915.1:p.Gly71fs

Select item 137440378519.

rs1374403785 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:161040621 (GRCh38)
1:161010411 (GRCh37)
Canonical SPDI:: NC_000001.11:161040620:G:A
Gene:: USF1 (Varview), TSTD1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.161040621G>A, NC_000001.10:g.161010411G>A, NG_011612.1:g.10347C>T, NM_007122.5:c.669C>T, NM_007122.4:c.669C>T, NM_207005.3:c.492C>T, NM_207005.2:c.492C>T, NM_001276373.2:c.669C>T, NM_001276373.1:c.669C>T, XM_047429959.1:c.492C>T

Select item 136560183620.

rs1365601836 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:161041386 (GRCh38)
1:161011176 (GRCh37)
Canonical SPDI:: NC_000001.11:161041385:T:C
Gene:: USF1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.161041386T>C, NC_000001.10:g.161011176T>C, NG_011612.1:g.9582A>G, NM_007122.5:c.498A>G, NM_007122.4:c.498A>G, NM_207005.3:c.321A>G, NM_207005.2:c.321A>G, NM_001276373.2:c.498A>G, NM_001276373.1:c.498A>G, XM_047429959.1:c.321A>G

<< First< Prev

Page of 10

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 191

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity