SNP Links for Protein (Select 4758442) - SNP

Links from Protein

Items: 1 to 20 of 105

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Select item 14754531871.

rs1475453187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54480904 (GRCh38)
14:54947622 (GRCh37)
Canonical SPDI:: NC_000014.9:54480903:G:A
Gene:: GMFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54480904G>A, NC_000014.8:g.54947622G>A, NM_004124.3:c.253C>T, NM_004124.2:c.253C>T, NP_004115.1:p.Pro85Ser

Select item 14736507522.

rs1473650752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54480920 (GRCh38)
14:54947638 (GRCh37)
Canonical SPDI:: NC_000014.9:54480919:A:G
Gene:: GMFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.54480920A>G, NC_000014.8:g.54947638A>G, NM_004124.3:c.237T>C, NM_004124.2:c.237T>C

Select item 14715416153.

rs1471541615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54478151 (GRCh38)
14:54944869 (GRCh37)
Canonical SPDI:: NC_000014.9:54478150:T:C
Gene:: GMFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.54478151T>C, NC_000014.8:g.54944869T>C, NM_004124.3:c.366A>G, NM_004124.2:c.366A>G

Select item 14523278584.

rs1452327858 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:54481418 (GRCh38)
14:54948136 (GRCh37)
Canonical SPDI:: NC_000014.9:54481417:C:T
Gene:: GMFB (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=0.000008/2 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.54481418C>T, NC_000014.8:g.54948136C>T, NM_004124.3:c.191G>A, NM_004124.2:c.191G>A, NP_004115.1:p.Arg64Gln

Select item 14467979945.

rs1446797994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54480941 (GRCh38)
14:54947659 (GRCh37)
Canonical SPDI:: NC_000014.9:54480940:A:G
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54480941A>G, NC_000014.8:g.54947659A>G, NM_004124.3:c.216T>C, NM_004124.2:c.216T>C

Select item 14445129586.

rs1444512958 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54480917 (GRCh38)
14:54947635 (GRCh37)
Canonical SPDI:: NC_000014.9:54480916:T:C
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.54480917T>C, NC_000014.8:g.54947635T>C, NM_004124.3:c.240A>G, NM_004124.2:c.240A>G

Select item 14352048627.

rs1435204862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:54483751 (GRCh38)
14:54950469 (GRCh37)
Canonical SPDI:: NC_000014.9:54483750:A:C
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54483751A>C, NC_000014.8:g.54950469A>C, NM_004124.3:c.20T>G, NM_004124.2:c.20T>G, NP_004115.1:p.Val7Gly

Select item 14344765178.

rs1434476517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:54479835 (GRCh38)
14:54946553 (GRCh37)
Canonical SPDI:: NC_000014.9:54479834:A:C
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54479835A>C, NC_000014.8:g.54946553A>C, NM_004124.3:c.308T>G, NM_004124.2:c.308T>G, NP_004115.1:p.Met103Arg

Select item 14336405469.

rs1433640546 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54480888 (GRCh38)
14:54947606 (GRCh37)
Canonical SPDI:: NC_000014.9:54480887:A:G
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.54480888A>G, NC_000014.8:g.54947606A>G, NM_004124.3:c.269T>C, NM_004124.2:c.269T>C, NP_004115.1:p.Phe90Ser

Select item 142942092510.

rs1429420925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54479795 (GRCh38)
14:54946513 (GRCh37)
Canonical SPDI:: NC_000014.9:54479794:T:C
Gene:: GMFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54479795T>C, NC_000014.8:g.54946513T>C, NM_004124.3:c.348A>G, NM_004124.2:c.348A>G

Select item 141477189311.

rs1414771893 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:54483681 (GRCh38)
14:54950399 (GRCh37)
Canonical SPDI:: NC_000014.9:54483680:A:C
Gene:: GMFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54483681A>C, NC_000014.8:g.54950399A>C, NM_004124.3:c.90T>G, NM_004124.2:c.90T>G

Select item 140748802812.

rs1407488028 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:54478093 (GRCh38)
14:54944812 (GRCh37)
Canonical SPDI:: NC_000014.9:54478093:AAAAAA:AAAAAAA
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.54478099dup, NC_000014.8:g.54944817dup, NM_004124.3:c.423dup, NM_004124.2:c.423dup, NP_004115.1:p.His142fs

Select item 140616659313.

rs1406166593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54479812 (GRCh38)
14:54946530 (GRCh37)
Canonical SPDI:: NC_000014.9:54479811:G:A
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.54479812G>A, NC_000014.8:g.54946530G>A, NM_004124.3:c.331C>T, NM_004124.2:c.331C>T

Select item 140376362014.

rs1403763620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54483735 (GRCh38)
14:54950453 (GRCh37)
Canonical SPDI:: NC_000014.9:54483734:T:C
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.54483735T>C, NC_000014.8:g.54950453T>C, NM_004124.3:c.36A>G, NM_004124.2:c.36A>G

Select item 139157976615.

rs1391579766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54481445 (GRCh38)
14:54948163 (GRCh37)
Canonical SPDI:: NC_000014.9:54481444:T:C
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54481445T>C, NC_000014.8:g.54948163T>C, NM_004124.3:c.164A>G, NM_004124.2:c.164A>G, NP_004115.1:p.Asp55Gly

Select item 138806653416.

rs1388066534 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54481453 (GRCh38)
14:54948171 (GRCh37)
Canonical SPDI:: NC_000014.9:54481452:A:G
Gene:: GMFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000057/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.54481453A>G, NC_000014.8:g.54948171A>G, NM_004124.3:c.156T>C, NM_004124.2:c.156T>C

Select item 138783002617.

rs1387830026 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54480929 (GRCh38)
14:54947647 (GRCh37)
Canonical SPDI:: NC_000014.9:54480928:T:C
Gene:: GMFB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.54480929T>C, NC_000014.8:g.54947647T>C, NM_004124.3:c.228A>G, NM_004124.2:c.228A>G

Select item 137963420118.

rs1379634201 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:54483760 (GRCh38)
14:54950478 (GRCh37)
Canonical SPDI:: NC_000014.9:54483759:G:A
Gene:: GMFB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.54483760G>A, NC_000014.8:g.54950478G>A, NM_004124.3:c.11C>T, NM_004124.2:c.11C>T, NP_004115.1:p.Ser4Phe

Select item 135726647919.

rs1357266479 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:54480938 (GRCh38)
14:54947656 (GRCh37)
Canonical SPDI:: NC_000014.9:54480937:A:G
Gene:: GMFB (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)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.54480938A>G, NC_000014.8:g.54947656A>G, NM_004124.3:c.219T>C, NM_004124.2:c.219T>C

Select item 135577921320.

rs1355779213 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:54482199 (GRCh38)
14:54948917 (GRCh37)
Canonical SPDI:: NC_000014.9:54482198:T:C
Gene:: GMFB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.54482199T>C, NC_000014.8:g.54948917T>C, NM_004124.3:c.104A>G, NM_004124.2:c.104A>G, NP_004115.1:p.Lys35Arg

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