SNP Links for Protein (Select 20357512) - SNP

Links from Protein

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Select item 14860636891.

rs1486063689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:16168662 (GRCh38)
8:16026171 (GRCh37)
Canonical SPDI:: NC_000008.11:16168661:T:C
Gene:: MSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16168662T>C, NC_000008.10:g.16026171T>C, NG_012102.1:g.29130A>G, NM_002445.4:c.426A>G, NM_002445.3:c.426A>G, NM_138715.3:c.426A>G, NM_138715.2:c.426A>G, NM_138716.3:c.426A>G, NM_138716.2:c.426A>G, NM_001363744.1:c.480A>G, XM_024447161.2:c.480A>G, XM_024447161.1:c.480A>G

Select item 14860347862.

rs1486034786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:16155127 (GRCh38)
8:16012636 (GRCh37)
Canonical SPDI:: NC_000008.11:16155126:C:T
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16155127C>T, NC_000008.10:g.16012636C>T, NG_012102.1:g.42665G>A, NM_002445.4:c.835G>A, NM_002445.3:c.835G>A, NM_138715.3:c.835G>A, NM_138715.2:c.835G>A, NM_138716.3:c.835G>A, NM_138716.2:c.835G>A, NM_001363744.1:c.889G>A, XM_024447161.2:c.889G>A, XM_024447161.1:c.889G>A, NP_002436.1:p.Gly279Ser, NP_619729.1:p.Gly279Ser, NP_619730.1:p.Gly279Ser, NP_001350673.1:p.Gly297Ser, XP_024302929.1:p.Gly297Ser

Select item 14844534933.

rs1484453493 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:16150262 (GRCh38)
8:16007771 (GRCh37)
Canonical SPDI:: NC_000008.11:16150261:A:C
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16150262A>C, NC_000008.10:g.16007771A>C, NG_012102.1:g.47530T>G, NM_002445.4:c.948T>G, NM_002445.3:c.948T>G, NM_138715.3:c.948T>G, NM_138715.2:c.948T>G, NM_138716.3:c.948T>G, NM_138716.2:c.948T>G, NM_001363744.1:c.1002T>G, XM_024447161.2:c.1002T>G, XM_024447161.1:c.1002T>G, NP_002436.1:p.Ser316Arg, NP_619729.1:p.Ser316Arg, NP_619730.1:p.Ser316Arg, NP_001350673.1:p.Ser334Arg, XP_024302929.1:p.Ser334Arg

Select item 14843944314.

rs1484394431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:16164226 (GRCh38)
8:16021735 (GRCh37)
Canonical SPDI:: NC_000008.11:16164225:A:G
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16164226A>G, NC_000008.10:g.16021735A>G, NG_012102.1:g.33566T>C, NM_002445.4:c.656T>C, NM_002445.3:c.656T>C, NM_138715.3:c.656T>C, NM_138715.2:c.656T>C, NM_138716.3:c.656T>C, NM_138716.2:c.656T>C, NM_001363744.1:c.710T>C, XM_024447161.2:c.710T>C, XM_024447161.1:c.710T>C, NP_002436.1:p.Val219Ala, NP_619729.1:p.Val219Ala, NP_619730.1:p.Val219Ala, NP_001350673.1:p.Val237Ala, XP_024302929.1:p.Val237Ala

Select item 14829593275.

rs1482959327 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:16168588 (GRCh38)
8:16026097 (GRCh37)
Canonical SPDI:: NC_000008.11:16168587:T:C
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.16168588T>C, NC_000008.10:g.16026097T>C, NG_012102.1:g.29204A>G, NM_002445.4:c.500A>G, NM_002445.3:c.500A>G, NM_138715.3:c.500A>G, NM_138715.2:c.500A>G, NM_138716.3:c.500A>G, NM_138716.2:c.500A>G, NM_001363744.1:c.554A>G, XM_024447161.2:c.554A>G, XM_024447161.1:c.554A>G, NP_002436.1:p.Gln167Arg, NP_619729.1:p.Gln167Arg, NP_619730.1:p.Gln167Arg, NP_001350673.1:p.Gln185Arg, XP_024302929.1:p.Gln185Arg

Select item 14828478496.

rs1482847849 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:16155083 (GRCh38)
8:16012592 (GRCh37)
Canonical SPDI:: NC_000008.11:16155082:T:G
Gene:: MSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16155083T>G, NC_000008.10:g.16012592T>G, NG_012102.1:g.42709A>C, NM_002445.4:c.879A>C, NM_002445.3:c.879A>C, NM_138715.3:c.879A>C, NM_138715.2:c.879A>C, NM_138716.3:c.879A>C, NM_138716.2:c.879A>C, NM_001363744.1:c.933A>C, XM_024447161.2:c.933A>C, XM_024447161.1:c.933A>C

Select item 14818879547.

rs1481887954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:16120477 (GRCh38)
8:15977986 (GRCh37)
Canonical SPDI:: NC_000008.11:16120476:C:G,NC_000008.11:16120476:C:T
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000055/2 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000008.11:g.16120477C>G, NC_000008.11:g.16120477C>T, NC_000008.10:g.15977986C>G, NC_000008.10:g.15977986C>T, NG_012102.1:g.77315G>C, NG_012102.1:g.77315G>A, NM_138715.3:c.1163G>C, NM_138715.3:c.1163G>A, NM_138715.2:c.1163G>C, NM_138715.2:c.1163G>A, NM_001363744.1:c.1217G>C, NM_001363744.1:c.1217G>A, NP_619729.1:p.Cys388Ser, NP_619729.1:p.Cys388Tyr, NP_001350673.1:p.Cys406Ser, NP_001350673.1:p.Cys406Tyr

Select item 14795826648.

rs1479582664 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:16168520 (GRCh38)
8:16026029 (GRCh37)
Canonical SPDI:: NC_000008.11:16168519:A:G
Gene:: MSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16168520A>G, NC_000008.10:g.16026029A>G, NG_012102.1:g.29272T>C, NM_002445.4:c.568T>C, NM_002445.3:c.568T>C, NM_138715.3:c.568T>C, NM_138715.2:c.568T>C, NM_138716.3:c.568T>C, NM_138716.2:c.568T>C, NM_001363744.1:c.622T>C, XM_024447161.2:c.622T>C, XM_024447161.1:c.622T>C

Select item 14788004049.

rs1478800404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:16110215 (GRCh38)
8:15967724 (GRCh37)
Canonical SPDI:: NC_000008.11:16110214:G:C,NC_000008.11:16110214:G:T
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16110215G>C, NC_000008.11:g.16110215G>T, NC_000008.10:g.15967724G>C, NC_000008.10:g.15967724G>T, NG_012102.1:g.87577C>G, NG_012102.1:g.87577C>A, NM_138715.3:c.1226C>G, NM_138715.3:c.1226C>A, NM_138715.2:c.1226C>G, NM_138715.2:c.1226C>A, NM_138716.3:c.1037C>G, NM_138716.3:c.1037C>A, NM_138716.2:c.1037C>G, NM_138716.2:c.1037C>A, NM_001363744.1:c.1280C>G, NM_001363744.1:c.1280C>A, NP_619729.1:p.Thr409Ser, NP_619729.1:p.Thr409Asn, NP_619730.1:p.Thr346Ser, NP_619730.1:p.Thr346Asn, NP_001350673.1:p.Thr427Ser, NP_001350673.1:p.Thr427Asn

Select item 147873389010.

rs1478733890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:16110180 (GRCh38)
8:15967689 (GRCh37)
Canonical SPDI:: NC_000008.11:16110179:C:T
Gene:: MSR1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.16110180C>T, NC_000008.10:g.15967689C>T, NG_012102.1:g.87612G>A, NM_138715.3:c.1261G>A, NM_138715.2:c.1261G>A, NM_138716.3:c.1072G>A, NM_138716.2:c.1072G>A, NM_001363744.1:c.1315G>A, NP_619729.1:p.Gly421Arg, NP_619730.1:p.Gly358Arg, NP_001350673.1:p.Gly439Arg

Select item 147809811011.

rs1478098110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:16177926 (GRCh38)
8:16035435 (GRCh37)
Canonical SPDI:: NC_000008.11:16177925:C:T
Gene:: MSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000085/3 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.16177926C>T, NC_000008.10:g.16035435C>T, NG_012102.1:g.19866G>A, NM_002445.4:c.63G>A, NM_002445.3:c.63G>A, NM_138715.3:c.63G>A, NM_138715.2:c.63G>A, NM_138716.3:c.63G>A, NM_138716.2:c.63G>A, NM_001363744.1:c.117G>A, XM_024447161.2:c.117G>A, XM_024447161.1:c.117G>A

Select item 147337290012.

rs1473372900 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGTCATTTCCTTTTC>- [Show Flanks]
Chromosome:: 8:16168776 (GRCh38)
8:16026285 (GRCh37)
Canonical SPDI:: NC_000008.11:16168772:TTCGCTGTCATTTCCTTTTC:TTC
Gene:: MSR1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.16168776_16168792del, NC_000008.10:g.16026285_16026301del, NG_012102.1:g.29003_29019del, NM_002445.4:c.299_315del, NM_002445.3:c.299_315del, NM_138715.3:c.299_315del, NM_138715.2:c.299_315del, NM_138716.3:c.299_315del, NM_138716.2:c.299_315del, NM_001363744.1:c.353_369del, XM_024447161.2:c.353_369del, XM_024447161.1:c.353_369del, NP_002436.1:p.Lys100fs, NP_619729.1:p.Lys100fs, NP_619730.1:p.Lys100fs, NP_001350673.1:p.Lys118fs, XP_024302929.1:p.Lys118fs

Select item 147301752613.

rs1473017526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:16110145 (GRCh38)
8:15967654 (GRCh37)
Canonical SPDI:: NC_000008.11:16110144:C:A
Gene:: MSR1 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16110145C>A, NC_000008.10:g.15967654C>A, NG_012102.1:g.87647G>T, NM_138715.3:c.1296G>T, NM_138715.2:c.1296G>T, NM_138716.3:c.1107G>T, NM_138716.2:c.1107G>T, NM_001363744.1:c.1350G>T

Select item 147099521514.

rs1470995215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:16150298 (GRCh38)
8:16007807 (GRCh37)
Canonical SPDI:: NC_000008.11:16150297:A:G
Gene:: MSR1 (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=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.16150298A>G, NC_000008.10:g.16007807A>G, NG_012102.1:g.47494T>C, NM_002445.4:c.912T>C, NM_002445.3:c.912T>C, NM_138715.3:c.912T>C, NM_138715.2:c.912T>C, NM_138716.3:c.912T>C, NM_138716.2:c.912T>C, NM_001363744.1:c.966T>C, XM_024447161.2:c.966T>C, XM_024447161.1:c.966T>C

Select item 146972355615.

rs1469723556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:16175230 (GRCh38)
8:16032739 (GRCh37)
Canonical SPDI:: NC_000008.11:16175229:G:A,NC_000008.11:16175229:G:T
Gene:: MSR1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.16175230G>A, NC_000008.11:g.16175230G>T, NC_000008.10:g.16032739G>A, NC_000008.10:g.16032739G>T, NG_012102.1:g.22562C>T, NG_012102.1:g.22562C>A, NM_002445.4:c.174C>T, NM_002445.4:c.174C>A, NM_002445.3:c.174C>T, NM_002445.3:c.174C>A, NM_138715.3:c.174C>T, NM_138715.3:c.174C>A, NM_138715.2:c.174C>T, NM_138715.2:c.174C>A, NM_138716.3:c.174C>T, NM_138716.3:c.174C>A, NM_138716.2:c.174C>T, NM_138716.2:c.174C>A, NM_001363744.1:c.228C>T, NM_001363744.1:c.228C>A, XM_024447161.2:c.228C>T, XM_024447161.2:c.228C>A, XM_024447161.1:c.228C>T, XM_024447161.1:c.228C>A

Select item 146964274016.

rs1469642740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:16168515 (GRCh38)
8:16026024 (GRCh37)
Canonical SPDI:: NC_000008.11:16168514:C:A
Gene:: MSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16168515C>A, NC_000008.10:g.16026024C>A, NG_012102.1:g.29277G>T, NM_002445.4:c.573G>T, NM_002445.3:c.573G>T, NM_138715.3:c.573G>T, NM_138715.2:c.573G>T, NM_138716.3:c.573G>T, NM_138716.2:c.573G>T, NM_001363744.1:c.627G>T, XM_024447161.2:c.627G>T, XM_024447161.1:c.627G>T, NP_002436.1:p.Gln191His, NP_619729.1:p.Gln191His, NP_619730.1:p.Gln191His, NP_001350673.1:p.Gln209His, XP_024302929.1:p.Gln209His

Select item 146918135317.

rs1469181353 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:16168561 (GRCh38)
8:16026070 (GRCh37)
Canonical SPDI:: NC_000008.11:16168560:A:T
Gene:: MSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.16168561A>T, NC_000008.10:g.16026070A>T, NG_012102.1:g.29231T>A, NM_002445.4:c.527T>A, NM_002445.3:c.527T>A, NM_138715.3:c.527T>A, NM_138715.2:c.527T>A, NM_138716.3:c.527T>A, NM_138716.2:c.527T>A, NM_001363744.1:c.581T>A, XM_024447161.2:c.581T>A, XM_024447161.1:c.581T>A, NP_002436.1:p.Ile176Asn, NP_619729.1:p.Ile176Asn, NP_619730.1:p.Ile176Asn, NP_001350673.1:p.Ile194Asn, XP_024302929.1:p.Ile194Asn

Select item 146740388818.

rs1467403888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:16168780 (GRCh38)
8:16026289 (GRCh37)
Canonical SPDI:: NC_000008.11:16168779:T:C
Gene:: MSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.16168780T>C, NC_000008.10:g.16026289T>C, NG_012102.1:g.29012A>G, NM_002445.4:c.308A>G, NM_002445.3:c.308A>G, NM_138715.3:c.308A>G, NM_138715.2:c.308A>G, NM_138716.3:c.308A>G, NM_138716.2:c.308A>G, NM_001363744.1:c.362A>G, XM_024447161.2:c.362A>G, XM_024447161.1:c.362A>G, NP_002436.1:p.Asp103Gly, NP_619729.1:p.Asp103Gly, NP_619730.1:p.Asp103Gly, NP_001350673.1:p.Asp121Gly, XP_024302929.1:p.Asp121Gly

Select item 146544116019.

rs1465441160 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGCAATTCT>- [Show Flanks]
Chromosome:: 8:16168837 (GRCh38)
8:16026346 (GRCh37)
Canonical SPDI:: NC_000008.11:16168834:CTGAGCAATTCT:CT
Gene:: MSR1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.16168837_16168846del, NC_000008.10:g.16026346_16026355del, NG_012102.1:g.28948_28957del, NM_002445.4:c.244_253del, NM_002445.3:c.244_253del, NM_138715.3:c.244_253del, NM_138715.2:c.244_253del, NM_138716.3:c.244_253del, NM_138716.2:c.244_253del, NM_001363744.1:c.298_307del, XM_024447161.2:c.298_307del, XM_024447161.1:c.298_307del, NP_002436.1:p.Asn82fs, NP_619729.1:p.Asn82fs, NP_619730.1:p.Asn82fs, NP_001350673.1:p.Asn100fs, XP_024302929.1:p.Asn100fs

Select item 146230226220.

rs1462302262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:16150234 (GRCh38)
8:16007743 (GRCh37)
Canonical SPDI:: NC_000008.11:16150233:G:A
Gene:: MSR1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000008.11:g.16150234G>A, NC_000008.10:g.16007743G>A, NG_012102.1:g.47558C>T, NM_002445.4:c.976C>T, NM_002445.3:c.976C>T, NM_138715.3:c.976C>T, NM_138715.2:c.976C>T, NM_138716.3:c.976C>T, NM_138716.2:c.976C>T, NM_001363744.1:c.1030C>T, XM_024447161.2:c.1030C>T, XM_024447161.1:c.1030C>T, NP_002436.1:p.Pro326Ser, NP_619729.1:p.Pro326Ser, NP_619730.1:p.Pro326Ser, NP_001350673.1:p.Pro344Ser, XP_024302929.1:p.Pro344Ser

dbSNP

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