SNP Links for Protein (Select 628601853) - SNP

Links from Protein

Items: 1 to 20 of 569

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Select item 14905707501.

rs1490570750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72777460 (GRCh38)
7:72242471 (GRCh37)
Canonical SPDI:: NC_000007.14:72777459:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.72777460C>T, NW_003871064.1:g.306696C>T, NC_000007.13:g.72242471C>T, NM_001145440.3:c.920G>A, NM_001145440.2:c.920G>A, NM_001145440.1:c.920G>A, NM_001145441.1:c.434G>A, NR_027031.1:n.1079G>A, NP_001138912.2:p.Arg307Lys

Select item 14895480842.

rs1489548084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72807306 (GRCh38)
7:72277899 (GRCh37)
Canonical SPDI:: NC_000007.14:72807305:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000007.14:g.72807306C>T, NW_003871064.1:g.336542C>T, NC_000007.13:g.72277899C>T, NM_001145440.3:c.483G>A, NM_001145440.2:c.483G>A, NM_001145440.1:c.483G>A, NR_027031.1:n.642G>A

Select item 14840067663.

rs1484006766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:72616769 (GRCh38)
7:72081754 (GRCh37)
Canonical SPDI:: NC_000007.14:72616768:A:G
Gene:: TYW1B (Varview)
Functional Consequence:: missense_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_000007.14:g.72616769A>G, NC_000007.13:g.72081754A>G, NW_003871064.1:g.146033A>G, NM_001145440.3:c.1688T>C, NM_001145440.2:c.1688T>C, NM_001145440.1:c.1688T>C, NM_001145441.1:c.1202T>C, NR_027031.1:n.1848T>C, NP_001138912.2:p.Val563Ala

Select item 14829740324.

rs1482974032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72728923 (GRCh38)
7:72193891 (GRCh37)
Canonical SPDI:: NC_000007.14:72728922:T:C
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.72728923T>C, NC_000007.13:g.72193891T>C, NW_003871064.1:g.258170T>C, NM_001145440.3:c.1091A>G, NM_001145440.2:c.1091A>G, NM_001145440.1:c.1091A>G, NM_001145441.1:c.605A>G, NR_027031.1:n.1251A>G, NP_001138912.2:p.Asn364Ser

Select item 14795130495.

rs1479513049 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72744581 (GRCh38)
7:72209558 (GRCh37)
Canonical SPDI:: NC_000007.14:72744580:T:C
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.72744581T>C, NW_003871064.1:g.273817T>C, NC_000007.13:g.72209558T>C, NM_001145440.3:c.985A>G, NM_001145440.2:c.985A>G, NM_001145440.1:c.985A>G, NM_001145441.1:c.499A>G, NR_027031.1:n.1144A>G, NP_001138912.2:p.Ser329Gly

Select item 14707712186.

rs1470771218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:72628938 (GRCh38)
7:72093923 (GRCh37)
Canonical SPDI:: NC_000007.14:72628937:C:G,NC_000007.14:72628937:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000009/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.72628938C>G, NC_000007.14:g.72628938C>T, NC_000007.13:g.72093923C>G, NC_000007.13:g.72093923C>T, NW_003871064.1:g.158202C>G, NW_003871064.1:g.158202C>T, NM_001145440.3:c.1566G>C, NM_001145440.3:c.1566G>A, NM_001145440.2:c.1566G>C, NM_001145440.2:c.1566G>A, NM_001145440.1:c.1566G>C, NM_001145440.1:c.1566G>A, NM_001145441.1:c.1080G>C, NM_001145441.1:c.1080G>A, NR_027031.1:n.1726G>C, NR_027031.1:n.1726G>A, NP_001138912.2:p.Gln522His

Select item 14679786117.

rs1467978611 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:72744494 (GRCh38)
7:72209470 (GRCh37)
Canonical SPDI:: NC_000007.14:72744493:A:C,NC_000007.14:72744493:A:G
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.72744494A>C, NC_000007.14:g.72744494A>G, NW_003871064.1:g.273730A>C, NW_003871064.1:g.273730A>G, NC_000007.13:g.72209470A>C, NC_000007.13:g.72209470A>G, NM_001145440.3:c.1072T>G, NM_001145440.3:c.1072T>C, NM_001145440.2:c.1072T>G, NM_001145440.2:c.1072T>C, NM_001145440.1:c.1072T>G, NM_001145440.1:c.1072T>C, NM_001145441.1:c.586T>G, NM_001145441.1:c.586T>C, NR_027031.1:n.1232T>G, NR_027031.1:n.1232T>C, NP_001138912.2:p.Phe358Val, NP_001138912.2:p.Phe358Leu

Select item 14679641188.

rs1467964118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72744558 (GRCh38)
7:72209535 (GRCh37)
Canonical SPDI:: NC_000007.14:72744557:T:C
Gene:: TYW1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.72744558T>C, NW_003871064.1:g.273794T>C, NC_000007.13:g.72209535T>C, NM_001145440.3:c.1008A>G, NM_001145440.2:c.1008A>G, NM_001145440.1:c.1008A>G, NM_001145441.1:c.522A>G, NR_027031.1:n.1167A>G

Select item 14609396309.

rs1460939630 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:72807131 (GRCh38)
7:72277724 (GRCh37)
Canonical SPDI:: NC_000007.14:72807130:G:T
Gene:: TYW1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.72807131G>T, NW_003871064.1:g.336367G>T, NC_000007.13:g.72277724G>T, NM_001145440.3:c.658C>A, NM_001145440.2:c.658C>A, NM_001145440.1:c.658C>A, NR_027031.1:n.817C>A, NP_001138912.2:p.His220Asn

Select item 145841475610.

rs1458414756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:72807109 (GRCh38)
7:72277702 (GRCh37)
Canonical SPDI:: NC_000007.14:72807108:T:C
Gene:: TYW1B (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_000007.14:g.72807109T>C, NW_003871064.1:g.336345T>C, NC_000007.13:g.72277702T>C, NM_001145440.3:c.680A>G, NM_001145440.2:c.680A>G, NM_001145440.1:c.680A>G, NR_027031.1:n.839A>G, NP_001138912.2:p.Glu227Gly

Select item 145231189211.

rs1452311892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:72713698 (GRCh38)
7:72178656 (GRCh37)
Canonical SPDI:: NC_000007.14:72713697:G:A
Gene:: TYW1B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000007.14:g.72713698G>A, NC_000007.13:g.72178656G>A, NW_003871064.1:g.242935G>A, NM_001145440.3:c.1293C>T, NM_001145440.2:c.1293C>T, NM_001145440.1:c.1293C>T, NM_001145441.1:c.807C>T, NR_027031.1:n.1453C>T

Select item 144992468912.

rs1449924689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72807167 (GRCh38)
7:72277760 (GRCh37)
Canonical SPDI:: NC_000007.14:72807166:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.72807167C>T, NW_003871064.1:g.336403C>T, NC_000007.13:g.72277760C>T, NM_001145440.3:c.622G>A, NM_001145440.2:c.622G>A, NM_001145440.1:c.622G>A, NR_027031.1:n.781G>A, NP_001138912.2:p.Gly208Ser

Select item 144970958913.

rs1449709589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:72744547 (GRCh38)
7:72209523 (GRCh37)
Canonical SPDI:: NC_000007.14:72744546:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.72744547C>T, NW_003871064.1:g.273783C>T, NC_000007.13:g.72209523C>T, NM_001145440.3:c.1019G>A, NM_001145440.2:c.1019G>A, NM_001145440.1:c.1019G>A, NM_001145441.1:c.533G>A, NR_027031.1:n.1179G>A, NP_001138912.2:p.Ser340Asn

Select item 144144702614.

rs1441447026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:72628922 (GRCh38)
7:72093907 (GRCh37)
Canonical SPDI:: NC_000007.14:72628921:C:A,NC_000007.14:72628921:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
T=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.72628922C>A, NC_000007.14:g.72628922C>T, NC_000007.13:g.72093907C>A, NC_000007.13:g.72093907C>T, NW_003871064.1:g.158186C>A, NW_003871064.1:g.158186C>T, NM_001145440.3:c.1582G>T, NM_001145440.3:c.1582G>A, NM_001145440.2:c.1582G>T, NM_001145440.2:c.1582G>A, NM_001145440.1:c.1582G>T, NM_001145440.1:c.1582G>A, NM_001145441.1:c.1096G>T, NM_001145441.1:c.1096G>A, NR_027031.1:n.1742G>T, NR_027031.1:n.1742G>A, NP_001138912.2:p.Val528Leu, NP_001138912.2:p.Val528Met

Select item 144059532215.

rs1440595322 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 7:72694701 (GRCh38)
7:72159691 (GRCh37)
Canonical SPDI:: NC_000007.14:72694700:C:A,NC_000007.14:72694700:C:T
Gene:: TYW1B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.72694701C>A, NC_000007.14:g.72694701C>T, NC_000007.13:g.72159691C>A, NC_000007.13:g.72159691C>T, NW_003871064.1:g.223970C>A, NW_003871064.1:g.223970C>T, NM_001145440.3:c.1492G>T, NM_001145440.3:c.1492G>A, NM_001145440.2:c.1492G>T, NM_001145440.2:c.1492G>A, NM_001145440.1:c.1492G>T, NM_001145440.1:c.1492G>A, NM_001145441.1:c.1006G>T, NM_001145441.1:c.1006G>A, NR_027031.1:n.1652G>T, NR_027031.1:n.1652G>A, NP_001138912.2:p.Ala498Ser, NP_001138912.2:p.Ala498Thr

Select item 144010383816.

rs1440103838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:72807197 (GRCh38)
7:72277790 (GRCh37)
Canonical SPDI:: NC_000007.14:72807196:G:A,NC_000007.14:72807196:G:C
Gene:: TYW1B (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000007.14:g.72807197G>A, NC_000007.14:g.72807197G>C, NW_003871064.1:g.336433G>A, NW_003871064.1:g.336433G>C, NC_000007.13:g.72277790G>A, NC_000007.13:g.72277790G>C, NM_001145440.3:c.592C>T, NM_001145440.3:c.592C>G, NM_001145440.2:c.592C>T, NM_001145440.2:c.592C>G, NM_001145440.1:c.592C>T, NM_001145440.1:c.592C>G, NR_027031.1:n.751C>T, NR_027031.1:n.751C>G, NP_001138912.2:p.Gln198Ter, NP_001138912.2:p.Gln198Glu

Select item 143669243417.

rs1436692434 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:72628888 (GRCh38)
7:72093873 (GRCh37)
Canonical SPDI:: NC_000007.14:72628887:T:A
Gene:: TYW1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.72628888T>A, NC_000007.13:g.72093873T>A, NW_003871064.1:g.158152T>A, NM_001145440.3:c.1616A>T, NM_001145440.2:c.1616A>T, NM_001145440.1:c.1616A>T, NM_001145441.1:c.1130A>T, NR_027031.1:n.1776A>T, NP_001138912.2:p.Lys539Met

Select item 143387416118.

rs1433874161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:72694741 (GRCh38)
7:72159731 (GRCh37)
Canonical SPDI:: NC_000007.14:72694740:G:T
Gene:: TYW1B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.72694741G>T, NC_000007.13:g.72159731G>T, NW_003871064.1:g.224010G>T, NM_001145440.3:c.1452C>A, NM_001145440.2:c.1452C>A, NM_001145440.1:c.1452C>A, NM_001145441.1:c.966C>A, NR_027031.1:n.1612C>A

Select item 142685477119.

rs1426854771 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:72575685 (GRCh38)
7:72040670 (GRCh37)
Canonical SPDI:: NC_000007.14:72575684:T:A
Gene:: TYW1B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.72575685T>A, NC_000007.13:g.72040670T>A, NW_003871064.1:g.104949T>A, NM_001145440.3:c.1820A>T, NM_001145440.2:c.1820A>T, NM_001145440.1:c.1820A>T, NR_027031.1:n.1980A>T, NP_001138912.2:p.Asp607Val

Select item 142345471920.

rs1423454719 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:72777426 (GRCh38)
7:72242437 (GRCh37)
Canonical SPDI:: NC_000007.14:72777425:AA:A
Gene:: TYW1B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.72777427del, NW_003871064.1:g.306663del, NC_000007.13:g.72242438del, NM_001145440.3:c.954del, NM_001145440.2:c.954del, NM_001145440.1:c.954del, NM_001145441.1:c.468del, NR_027031.1:n.1113del, NP_001138912.2:p.Thr319fs

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