SNP Links for Protein (Select 7706039) - SNP

Links from Protein

Items: 1 to 20 of 150

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Select item 14870547951.

rs1487054795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:85596911 (GRCh38)
2:85824034 (GRCh37)
Canonical SPDI:: NC_000002.12:85596910:A:C,NC_000002.12:85596910:A:T
Gene:: RNF181 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85596911A>C, NC_000002.12:g.85596911A>T, NC_000002.11:g.85824034A>C, NC_000002.11:g.85824034A>T, NM_016494.4:c.307A>C, NM_016494.4:c.307A>T, NM_016494.3:c.307A>C, NM_016494.3:c.307A>T, NP_057578.1:p.Ile103Leu, NP_057578.1:p.Ile103Phe

Select item 14538490932.

rs1453849093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:85597480 (GRCh38)
2:85824603 (GRCh37)
Canonical SPDI:: NC_000002.12:85597479:C:A,NC_000002.12:85597479:C:T
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85597480C>A, NC_000002.12:g.85597480C>T, NC_000002.11:g.85824603C>A, NC_000002.11:g.85824603C>T, XM_005264359.5:c.479C>A, XM_005264359.5:c.479C>T, XM_005264359.4:c.479C>A, XM_005264359.4:c.479C>T, XM_005264359.3:c.479C>A, XM_005264359.3:c.479C>T, XM_005264359.2:c.479C>A, XM_005264359.2:c.479C>T, XM_005264359.1:c.479C>A, XM_005264359.1:c.479C>T, NM_016494.4:c.438C>A, NM_016494.4:c.438C>T, NM_016494.3:c.438C>A, NM_016494.3:c.438C>T, XP_005264416.1:p.Thr160Asn, XP_005264416.1:p.Thr160Ile, NP_057578.1:p.Asn146Lys

Select item 14500295933.

rs1450029593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:85597467 (GRCh38)
2:85824590 (GRCh37)
Canonical SPDI:: NC_000002.12:85597466:A:G
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85597467A>G, NC_000002.11:g.85824590A>G, XM_005264359.5:c.466A>G, XM_005264359.4:c.466A>G, XM_005264359.3:c.466A>G, XM_005264359.2:c.466A>G, XM_005264359.1:c.466A>G, NM_016494.4:c.425A>G, NM_016494.3:c.425A>G, XP_005264416.1:p.Thr156Ala, NP_057578.1:p.His142Arg

Select item 14498501694.

rs1449850169 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:85596890 (GRCh38)
2:85824013 (GRCh37)
Canonical SPDI:: NC_000002.12:85596889:C:G
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.85596890C>G, NC_000002.11:g.85824013C>G, NM_016494.4:c.286C>G, NM_016494.3:c.286C>G, NP_057578.1:p.His96Asp

Select item 14466449695.

rs1446644969 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85596869 (GRCh38)
2:85823992 (GRCh37)
Canonical SPDI:: NC_000002.12:85596868:G:A
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85596869G>A, NC_000002.11:g.85823992G>A, NM_016494.4:c.265G>A, NM_016494.3:c.265G>A, NP_057578.1:p.Ala89Thr

Select item 14465289596.

rs1446528959 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:85595786 (GRCh38)
2:85822909 (GRCh37)
Canonical SPDI:: NC_000002.12:85595785:A:G
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85595786A>G, NC_000002.11:g.85822909A>G, XM_005264359.5:c.23A>G, XM_005264359.4:c.23A>G, XM_005264359.3:c.23A>G, XM_005264359.2:c.23A>G, XM_005264359.1:c.23A>G, NM_016494.4:c.23A>G, NM_016494.3:c.23A>G, XP_005264416.1:p.His8Arg, NP_057578.1:p.His8Arg

Select item 14404581837.

rs1440458183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85595806 (GRCh38)
2:85822929 (GRCh37)
Canonical SPDI:: NC_000002.12:85595805:C:T
Gene:: RNF181 (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_000002.12:g.85595806C>T, NC_000002.11:g.85822929C>T, XM_005264359.5:c.43C>T, XM_005264359.4:c.43C>T, XM_005264359.3:c.43C>T, XM_005264359.2:c.43C>T, XM_005264359.1:c.43C>T, NM_016494.4:c.43C>T, NM_016494.3:c.43C>T, XP_005264416.1:p.Pro15Ser, NP_057578.1:p.Pro15Ser

Select item 14402631388.

rs1440263138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:85595789 (GRCh38)
2:85822912 (GRCh37)
Canonical SPDI:: NC_000002.12:85595788:A:C
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.85595789A>C, NC_000002.11:g.85822912A>C, XM_005264359.5:c.26A>C, XM_005264359.4:c.26A>C, XM_005264359.3:c.26A>C, XM_005264359.2:c.26A>C, XM_005264359.1:c.26A>C, NM_016494.4:c.26A>C, NM_016494.3:c.26A>C, XP_005264416.1:p.Asp9Ala, NP_057578.1:p.Asp9Ala

Select item 14239627919.

rs1423962791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85597449 (GRCh38)
2:85824572 (GRCh37)
Canonical SPDI:: NC_000002.12:85597448:G:A
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85597449G>A, NC_000002.11:g.85824572G>A, XM_005264359.5:c.448G>A, XM_005264359.4:c.448G>A, XM_005264359.3:c.448G>A, XM_005264359.2:c.448G>A, XM_005264359.1:c.448G>A, NM_016494.4:c.407G>A, NM_016494.3:c.407G>A, XP_005264416.1:p.Glu150Lys, NP_057578.1:p.Arg136Gln

Select item 141322623410.

rs1413226234 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 2:85595770 (GRCh38)
2:85822893 (GRCh37)
Canonical SPDI:: NC_000002.12:85595769:T:A,NC_000002.12:85595769:T:C
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85595770T>A, NC_000002.12:g.85595770T>C, NC_000002.11:g.85822893T>A, NC_000002.11:g.85822893T>C, XM_005264359.5:c.7T>A, XM_005264359.5:c.7T>C, XM_005264359.4:c.7T>A, XM_005264359.4:c.7T>C, XM_005264359.3:c.7T>A, XM_005264359.3:c.7T>C, XM_005264359.2:c.7T>A, XM_005264359.2:c.7T>C, XM_005264359.1:c.7T>A, XM_005264359.1:c.7T>C, NM_016494.4:c.7T>A, NM_016494.4:c.7T>C, NM_016494.3:c.7T>A, NM_016494.3:c.7T>C, XP_005264416.1:p.Ser3Thr, XP_005264416.1:p.Ser3Pro, NP_057578.1:p.Ser3Thr, NP_057578.1:p.Ser3Pro

Select item 141311968511.

rs1413119685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:85595841 (GRCh38)
2:85822964 (GRCh37)
Canonical SPDI:: NC_000002.12:85595840:G:T
Gene:: RNF181 (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=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85595841G>T, NC_000002.11:g.85822964G>T, XM_005264359.5:c.78G>T, XM_005264359.4:c.78G>T, XM_005264359.3:c.78G>T, XM_005264359.2:c.78G>T, XM_005264359.1:c.78G>T, NM_016494.4:c.78G>T, NM_016494.3:c.78G>T, XP_005264416.1:p.Glu26Asp, NP_057578.1:p.Glu26Asp

Select item 141311339212.

rs1413113392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:85597121 (GRCh38)
2:85824244 (GRCh37)
Canonical SPDI:: NC_000002.12:85597120:G:T
Gene:: RNF181 (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=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85597121G>T, NC_000002.11:g.85824244G>T, XM_005264359.5:c.386G>T, XM_005264359.4:c.386G>T, XM_005264359.3:c.386G>T, XM_005264359.2:c.386G>T, XM_005264359.1:c.386G>T, NM_016494.4:c.345G>T, NM_016494.3:c.345G>T, XP_005264416.1:p.Cys129Phe, NP_057578.1:p.Leu115Phe

Select item 141246024013.

rs1412460240 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:85596535 (GRCh38)
2:85823658 (GRCh37)
Canonical SPDI:: NC_000002.12:85596534:A:C
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85596535A>C, NC_000002.11:g.85823658A>C, XM_005264359.5:c.103A>C, XM_005264359.4:c.103A>C, XM_005264359.3:c.103A>C, XM_005264359.2:c.103A>C, XM_005264359.1:c.103A>C, NM_016494.4:c.103A>C, NM_016494.3:c.103A>C, XP_005264416.1:p.Met35Leu, NP_057578.1:p.Met35Leu

Select item 140993393014.

rs1409933930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 2:85596931 (GRCh38)
2:85824054 (GRCh37)
Canonical SPDI:: NC_000002.12:85596930:G:C,NC_000002.12:85596930:G:T
Gene:: RNF181 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.85596931G>C, NC_000002.12:g.85596931G>T, NC_000002.11:g.85824054G>C, NC_000002.11:g.85824054G>T, NM_016494.4:c.327G>C, NM_016494.4:c.327G>T, NM_016494.3:c.327G>C, NM_016494.3:c.327G>T, NP_057578.1:p.Lys109Asn, NP_057578.1:p.Lys109Asn

Select item 139930147415.

rs1399301474 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85595779 (GRCh38)
2:85822902 (GRCh37)
Canonical SPDI:: NC_000002.12:85595778:G:A
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.85595779G>A, NC_000002.11:g.85822902G>A, XM_005264359.5:c.16G>A, XM_005264359.4:c.16G>A, XM_005264359.3:c.16G>A, XM_005264359.2:c.16G>A, XM_005264359.1:c.16G>A, NM_016494.4:c.16G>A, NM_016494.3:c.16G>A, XP_005264416.1:p.Asp6Asn, NP_057578.1:p.Asp6Asn

Select item 138020885416.

rs1380208854 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:85596555 (GRCh38)
2:85823678 (GRCh37)
Canonical SPDI:: NC_000002.12:85596554:G:T
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85596555G>T, NC_000002.11:g.85823678G>T, XM_005264359.5:c.123G>T, XM_005264359.4:c.123G>T, XM_005264359.3:c.123G>T, XM_005264359.2:c.123G>T, XM_005264359.1:c.123G>T, NM_016494.4:c.123G>T, NM_016494.3:c.123G>T

Select item 137862322217.

rs1378623222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85596547 (GRCh38)
2:85823670 (GRCh37)
Canonical SPDI:: NC_000002.12:85596546:G:A
Gene:: RNF181 (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=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85596547G>A, NC_000002.11:g.85823670G>A, XM_005264359.5:c.115G>A, XM_005264359.4:c.115G>A, XM_005264359.3:c.115G>A, XM_005264359.2:c.115G>A, XM_005264359.1:c.115G>A, NM_016494.4:c.115G>A, NM_016494.3:c.115G>A, XP_005264416.1:p.Asp39Asn, NP_057578.1:p.Asp39Asn

Select item 137742636018.

rs1377426360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:85596838 (GRCh38)
2:85823961 (GRCh37)
Canonical SPDI:: NC_000002.12:85596837:G:A,NC_000002.12:85596837:G:C
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
HGVS:: NC_000002.12:g.85596838G>A, NC_000002.12:g.85596838G>C, NC_000002.11:g.85823961G>A, NC_000002.11:g.85823961G>C, NM_016494.4:c.234G>A, NM_016494.4:c.234G>C, NM_016494.3:c.234G>A, NM_016494.3:c.234G>C

Select item 136974579219.

rs1369745792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:85596881 (GRCh38)
2:85824004 (GRCh37)
Canonical SPDI:: NC_000002.12:85596880:C:G,NC_000002.12:85596880:C:T
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85596881C>G, NC_000002.12:g.85596881C>T, NC_000002.11:g.85824004C>G, NC_000002.11:g.85824004C>T, NM_016494.4:c.277C>G, NM_016494.4:c.277C>T, NM_016494.3:c.277C>G, NM_016494.3:c.277C>T, NP_057578.1:p.Pro93Ala, NP_057578.1:p.Pro93Ser

Select item 136624968920.

rs1366249689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:85596630 (GRCh38)
2:85823753 (GRCh37)
Canonical SPDI:: NC_000002.12:85596629:C:A
Gene:: RNF181 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000002.12:g.85596630C>A, NC_000002.11:g.85823753C>A, XM_005264359.5:c.198C>A, XM_005264359.4:c.198C>A, XM_005264359.3:c.198C>A, XM_005264359.2:c.198C>A, XM_005264359.1:c.198C>A, NM_016494.4:c.198C>A, NM_016494.3:c.198C>A

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