SNP Links for Protein (Select 296011053) - SNP

Links from Protein

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Select item 14876425941.

rs1487642594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40015746 (GRCh38)
17:38171999 (GRCh37)
Canonical SPDI:: NC_000017.11:40015745:C:G,NC_000017.11:40015745:C:T
Gene:: CSF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40015746C>G, NC_000017.11:g.40015746C>T, NC_000017.10:g.38171999C>G, NC_000017.10:g.38171999C>T, NM_000759.4:c.96C>G, NM_000759.4:c.96C>T, NM_000759.3:c.96C>G, NM_000759.3:c.96C>T, NM_172219.3:c.96C>G, NM_172219.3:c.96C>T, NM_172219.2:c.96C>G, NM_172219.2:c.96C>T, NM_172220.3:c.96C>G, NM_172220.3:c.96C>T, NM_172220.2:c.96C>G, NM_172220.2:c.96C>T, NR_033662.2:n.307C>G, NR_033662.2:n.307C>T, NR_033662.1:n.386C>G, NR_033662.1:n.386C>T, NM_001178147.2:c.96C>G, NM_001178147.2:c.96C>T, NM_001178147.1:c.96C>G, NM_001178147.1:c.96C>T, NR_168491.1:n.307C>G, NR_168491.1:n.307C>T, NR_168490.1:n.307C>G, NR_168490.1:n.307C>T, NR_168489.1:n.307C>G, NR_168489.1:n.307C>T

Select item 14876199172.

rs1487619917 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:40015493 (GRCh38)
17:38171746 (GRCh37)
Canonical SPDI:: NC_000017.11:40015492:C:G
Gene:: CSF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40015493C>G, NC_000017.10:g.38171746C>G, NM_000759.4:c.19C>G, NM_000759.3:c.19C>G, NM_172219.3:c.19C>G, NM_172219.2:c.19C>G, NM_172220.3:c.19C>G, NM_172220.2:c.19C>G, NR_033662.2:n.54C>G, NR_033662.1:n.133C>G, NM_001178147.2:c.19C>G, NM_001178147.1:c.19C>G, NR_168491.1:n.54C>G, NR_168490.1:n.54C>G, NR_168489.1:n.54C>G, NP_000750.1:p.Gln7Glu, NP_757373.1:p.Gln7Glu, NP_757374.2:p.Gln7Glu, NP_001171618.1:p.Gln7Glu

Select item 14859951763.

rs1485995176 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:40016795 (GRCh38)
17:38173048 (GRCh37)
Canonical SPDI:: NC_000017.11:40016794:A:C
Gene:: CSF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40016795A>C, NC_000017.10:g.38173048A>C, NM_000759.4:c.460A>C, NM_000759.3:c.460A>C, NM_172219.3:c.451A>C, NM_172219.2:c.451A>C, NM_172220.3:c.352A>C, NM_172220.2:c.352A>C, NR_033662.2:n.662A>C, NR_033662.1:n.741A>C, NM_001178147.2:c.343A>C, NM_001178147.1:c.343A>C, NR_168491.1:n.671A>C, NR_168490.1:n.563A>C, NR_168489.1:n.554A>C, NP_000750.1:p.Met154Leu, NP_757373.1:p.Met151Leu, NP_757374.2:p.Met118Leu, NP_001171618.1:p.Met115Leu

Select item 14817927184.

rs1481792718 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40015826 (GRCh38)
17:38172079 (GRCh37)
Canonical SPDI:: NC_000017.11:40015825:C:A
Gene:: CSF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40015826C>A, NC_000017.10:g.38172079C>A, NM_000759.4:c.176C>A, NM_000759.3:c.176C>A, NM_172219.3:c.176C>A, NM_172219.2:c.176C>A, NM_172220.3:c.176C>A, NM_172220.2:c.176C>A, NR_033662.2:n.387C>A, NR_033662.1:n.466C>A, NM_001178147.2:c.176C>A, NM_001178147.1:c.176C>A, NR_168491.1:n.387C>A, NR_168490.1:n.387C>A, NR_168489.1:n.387C>A, NP_000750.1:p.Ala59Glu, NP_757373.1:p.Ala59Glu, NP_757374.2:p.Ala59Glu, NP_001171618.1:p.Ala59Glu

Select item 14772882465.

rs1477288246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:40015692 (GRCh38)
17:38171945 (GRCh37)
Canonical SPDI:: NC_000017.11:40015691:C:A,NC_000017.11:40015691:C:T
Gene:: CSF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40015692C>A, NC_000017.11:g.40015692C>T, NC_000017.10:g.38171945C>A, NC_000017.10:g.38171945C>T, NM_000759.4:c.42C>A, NM_000759.4:c.42C>T, NM_000759.3:c.42C>A, NM_000759.3:c.42C>T, NM_172219.3:c.42C>A, NM_172219.3:c.42C>T, NM_172219.2:c.42C>A, NM_172219.2:c.42C>T, NM_172220.3:c.42C>A, NM_172220.3:c.42C>T, NM_172220.2:c.42C>A, NM_172220.2:c.42C>T, NR_033662.2:n.253C>A, NR_033662.2:n.253C>T, NR_033662.1:n.332C>A, NR_033662.1:n.332C>T, NM_001178147.2:c.42C>A, NM_001178147.2:c.42C>T, NM_001178147.1:c.42C>A, NM_001178147.1:c.42C>T, NR_168491.1:n.253C>A, NR_168491.1:n.253C>T, NR_168490.1:n.253C>A, NR_168490.1:n.253C>T, NR_168489.1:n.253C>A, NR_168489.1:n.253C>T

Select item 14772088046.

rs1477208804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:40016858 (GRCh38)
17:38173111 (GRCh37)
Canonical SPDI:: NC_000017.11:40016857:T:G
Gene:: CSF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.40016858T>G, NC_000017.10:g.38173111T>G, NM_000759.4:c.523T>G, NM_000759.3:c.523T>G, NM_172219.3:c.514T>G, NM_172219.2:c.514T>G, NM_172220.3:c.415T>G, NM_172220.2:c.415T>G, NR_033662.2:n.725T>G, NR_033662.1:n.804T>G, NM_001178147.2:c.406T>G, NM_001178147.1:c.406T>G, NR_168491.1:n.734T>G, NR_168490.1:n.626T>G, NR_168489.1:n.617T>G, NP_000750.1:p.Ser175Ala, NP_757373.1:p.Ser172Ala, NP_757374.2:p.Ser139Ala, NP_001171618.1:p.Ser136Ala

Select item 14704787047.

rs1470478704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:40015701 (GRCh38)
17:38171954 (GRCh37)
Canonical SPDI:: NC_000017.11:40015700:G:A,NC_000017.11:40015700:G:C,NC_000017.11:40015700:G:T
Gene:: CSF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.40015701G>A, NC_000017.11:g.40015701G>C, NC_000017.11:g.40015701G>T, NC_000017.10:g.38171954G>A, NC_000017.10:g.38171954G>C, NC_000017.10:g.38171954G>T, NM_000759.4:c.51G>A, NM_000759.4:c.51G>C, NM_000759.4:c.51G>T, NM_000759.3:c.51G>A, NM_000759.3:c.51G>C, NM_000759.3:c.51G>T, NM_172219.3:c.51G>A, NM_172219.3:c.51G>C, NM_172219.3:c.51G>T, NM_172219.2:c.51G>A, NM_172219.2:c.51G>C, NM_172219.2:c.51G>T, NM_172220.3:c.51G>A, NM_172220.3:c.51G>C, NM_172220.3:c.51G>T, NM_172220.2:c.51G>A, NM_172220.2:c.51G>C, NM_172220.2:c.51G>T, NR_033662.2:n.262G>A, NR_033662.2:n.262G>C, NR_033662.2:n.262G>T, NR_033662.1:n.341G>A, NR_033662.1:n.341G>C, NR_033662.1:n.341G>T, NM_001178147.2:c.51G>A, NM_001178147.2:c.51G>C, NM_001178147.2:c.51G>T, NM_001178147.1:c.51G>A, NM_001178147.1:c.51G>C, NM_001178147.1:c.51G>T, NR_168491.1:n.262G>A, NR_168491.1:n.262G>C, NR_168491.1:n.262G>T, NR_168490.1:n.262G>A, NR_168490.1:n.262G>C, NR_168490.1:n.262G>T, NR_168489.1:n.262G>A, NR_168489.1:n.262G>C, NR_168489.1:n.262G>T

Select item 14663351448.

rs1466335144 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:40016532 (GRCh38)
17:38172785 (GRCh37)
Canonical SPDI:: NC_000017.11:40016531:G:C
Gene:: CSF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000056/2 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40016532G>C, NC_000017.10:g.38172785G>C, NM_000759.4:c.360G>C, NM_000759.3:c.360G>C, NM_172219.3:c.351G>C, NM_172219.2:c.351G>C, NM_172220.3:c.252G>C, NM_172220.2:c.252G>C, NR_033662.2:n.562G>C, NR_033662.1:n.641G>C, NM_001178147.2:c.243G>C, NM_001178147.1:c.243G>C, NR_168491.1:n.571G>C, NR_168490.1:n.463G>C, NR_168489.1:n.454G>C

Select item 14655131599.

rs1465513159 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40016938 (GRCh38)
17:38173191 (GRCh37)
Canonical SPDI:: NC_000017.11:40016937:A:G
Gene:: CSF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_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_000017.11:g.40016938A>G, NC_000017.10:g.38173191A>G, NM_000759.4:c.603A>G, NM_000759.3:c.603A>G, NM_172219.3:c.594A>G, NM_172219.2:c.594A>G, NM_172220.3:c.495A>G, NM_172220.2:c.495A>G, NR_033662.2:n.805A>G, NR_033662.1:n.884A>G, NM_001178147.2:c.486A>G, NM_001178147.1:c.486A>G, NR_168491.1:n.814A>G, NR_168490.1:n.706A>G, NR_168489.1:n.697A>G

Select item 145948108010.

rs1459481080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:40016942 (GRCh38)
17:38173195 (GRCh37)
Canonical SPDI:: NC_000017.11:40016941:C:A
Gene:: CSF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40016942C>A, NC_000017.10:g.38173195C>A, NM_000759.4:c.607C>A, NM_000759.3:c.607C>A, NM_172219.3:c.598C>A, NM_172219.2:c.598C>A, NM_172220.3:c.499C>A, NM_172220.2:c.499C>A, NR_033662.2:n.809C>A, NR_033662.1:n.888C>A, NM_001178147.2:c.490C>A, NM_001178147.1:c.490C>A, NR_168491.1:n.818C>A, NR_168490.1:n.710C>A, NR_168489.1:n.701C>A, NP_000750.1:p.His203Asn, NP_757373.1:p.His200Asn, NP_757374.2:p.His167Asn, NP_001171618.1:p.His164Asn

Select item 145497682711.

rs1454976827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:40016596 (GRCh38)
17:38172849 (GRCh37)
Canonical SPDI:: NC_000017.11:40016595:G:A,NC_000017.11:40016595:G:T
Gene:: CSF3 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.40016596G>A, NC_000017.11:g.40016596G>T, NC_000017.10:g.38172849G>A, NC_000017.10:g.38172849G>T, NM_000759.4:c.424G>A, NM_000759.4:c.424G>T, NM_000759.3:c.424G>A, NM_000759.3:c.424G>T, NM_172219.3:c.415G>A, NM_172219.3:c.415G>T, NM_172219.2:c.415G>A, NM_172219.2:c.415G>T, NM_172220.3:c.316G>A, NM_172220.3:c.316G>T, NM_172220.2:c.316G>A, NM_172220.2:c.316G>T, NR_033662.2:n.626G>A, NR_033662.2:n.626G>T, NR_033662.1:n.705G>A, NR_033662.1:n.705G>T, NM_001178147.2:c.307G>A, NM_001178147.2:c.307G>T, NM_001178147.1:c.307G>A, NM_001178147.1:c.307G>T, NR_168491.1:n.635G>A, NR_168491.1:n.635G>T, NR_168490.1:n.527G>A, NR_168490.1:n.527G>T, NR_168489.1:n.518G>A, NR_168489.1:n.518G>T, NP_000750.1:p.Asp142Asn, NP_000750.1:p.Asp142Tyr, NP_757373.1:p.Asp139Asn, NP_757373.1:p.Asp139Tyr, NP_757374.2:p.Asp106Asn, NP_757374.2:p.Asp106Tyr, NP_001171618.1:p.Asp103Asn, NP_001171618.1:p.Asp103Tyr

Select item 144899106412.

rs1448991064 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:40016927 (GRCh38)
17:38173180 (GRCh37)
Canonical SPDI:: NC_000017.11:40016926:T:C
Gene:: CSF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000017.11:g.40016927T>C, NC_000017.10:g.38173180T>C, NM_000759.4:c.592T>C, NM_000759.3:c.592T>C, NM_172219.3:c.583T>C, NM_172219.2:c.583T>C, NM_172220.3:c.484T>C, NM_172220.2:c.484T>C, NR_033662.2:n.794T>C, NR_033662.1:n.873T>C, NM_001178147.2:c.475T>C, NM_001178147.1:c.475T>C, NR_168491.1:n.803T>C, NR_168490.1:n.695T>C, NR_168489.1:n.686T>C, NP_000750.1:p.Tyr198His, NP_757373.1:p.Tyr195His, NP_757374.2:p.Tyr162His, NP_001171618.1:p.Tyr159His

Select item 143515866813.

rs1435158668 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:40015494 (GRCh38)
17:38171747 (GRCh37)
Canonical SPDI:: NC_000017.11:40015493:A:G
Gene:: CSF3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000017.11:g.40015494A>G, NC_000017.10:g.38171747A>G, NM_000759.4:c.20A>G, NM_000759.3:c.20A>G, NM_172219.3:c.20A>G, NM_172219.2:c.20A>G, NM_172220.3:c.20A>G, NM_172220.2:c.20A>G, NR_033662.2:n.55A>G, NR_033662.1:n.134A>G, NM_001178147.2:c.20A>G, NM_001178147.1:c.20A>G, NR_168491.1:n.55A>G, NR_168490.1:n.55A>G, NR_168489.1:n.55A>G, NP_000750.1:p.Gln7Arg, NP_757373.1:p.Gln7Arg, NP_757374.2:p.Gln7Arg, NP_001171618.1:p.Gln7Arg

Select item 143099155214.

rs1430991552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40015699 (GRCh38)
17:38171952 (GRCh37)
Canonical SPDI:: NC_000017.11:40015698:C:T
Gene:: CSF3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
HGVS:: NC_000017.11:g.40015699C>T, NC_000017.10:g.38171952C>T, NM_000759.4:c.49C>T, NM_000759.3:c.49C>T, NM_172219.3:c.49C>T, NM_172219.2:c.49C>T, NM_172220.3:c.49C>T, NM_172220.2:c.49C>T, NR_033662.2:n.260C>T, NR_033662.1:n.339C>T, NM_001178147.2:c.49C>T, NM_001178147.1:c.49C>T, NR_168491.1:n.260C>T, NR_168490.1:n.260C>T, NR_168489.1:n.260C>T

Select item 142357489215.

rs1423574892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:40015764 (GRCh38)
17:38172017 (GRCh37)
Canonical SPDI:: NC_000017.11:40015763:C:T
Gene:: CSF3 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40015764C>T, NC_000017.10:g.38172017C>T, NM_000759.4:c.114C>T, NM_000759.3:c.114C>T, NM_172219.3:c.114C>T, NM_172219.2:c.114C>T, NM_172220.3:c.114C>T, NM_172220.2:c.114C>T, NR_033662.2:n.325C>T, NR_033662.1:n.404C>T, NM_001178147.2:c.114C>T, NM_001178147.1:c.114C>T, NR_168491.1:n.325C>T, NR_168490.1:n.325C>T, NR_168489.1:n.325C>T

Select item 140156974116.

rs1401569741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:40016554 (GRCh38)
17:38172807 (GRCh37)
Canonical SPDI:: NC_000017.11:40016553:A:C
Gene:: CSF3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40016554A>C, NC_000017.10:g.38172807A>C, NM_000759.4:c.382A>C, NM_000759.3:c.382A>C, NM_172219.3:c.373A>C, NM_172219.2:c.373A>C, NM_172220.3:c.274A>C, NM_172220.2:c.274A>C, NR_033662.2:n.584A>C, NR_033662.1:n.663A>C, NM_001178147.2:c.265A>C, NM_001178147.1:c.265A>C, NR_168491.1:n.593A>C, NR_168490.1:n.485A>C, NR_168489.1:n.476A>C, NP_000750.1:p.Ile128Leu, NP_757373.1:p.Ile125Leu, NP_757374.2:p.Ile92Leu, NP_001171618.1:p.Ile89Leu

Select item 139824001517.

rs1398240015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40015729 (GRCh38)
17:38171982 (GRCh37)
Canonical SPDI:: NC_000017.11:40015728:G:A
Gene:: CSF3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40015729G>A, NC_000017.10:g.38171982G>A, NM_000759.4:c.79G>A, NM_000759.3:c.79G>A, NM_172219.3:c.79G>A, NM_172219.2:c.79G>A, NM_172220.3:c.79G>A, NM_172220.2:c.79G>A, NR_033662.2:n.290G>A, NR_033662.1:n.369G>A, NM_001178147.2:c.79G>A, NM_001178147.1:c.79G>A, NR_168491.1:n.290G>A, NR_168490.1:n.290G>A, NR_168489.1:n.290G>A, NP_000750.1:p.Val27Met, NP_757373.1:p.Val27Met, NP_757374.2:p.Val27Met, NP_001171618.1:p.Val27Met

Select item 138825940118.

rs1388259401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:40016813 (GRCh38)
17:38173066 (GRCh37)
Canonical SPDI:: NC_000017.11:40016812:G:T
Gene:: CSF3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_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_000017.11:g.40016813G>T, NC_000017.10:g.38173066G>T, NM_000759.4:c.478G>T, NM_000759.3:c.478G>T, NM_172219.3:c.469G>T, NM_172219.2:c.469G>T, NM_172220.3:c.370G>T, NM_172220.2:c.370G>T, NR_033662.2:n.680G>T, NR_033662.1:n.759G>T, NM_001178147.2:c.361G>T, NM_001178147.1:c.361G>T, NR_168491.1:n.689G>T, NR_168490.1:n.581G>T, NR_168489.1:n.572G>T, NP_000750.1:p.Ala160Ser, NP_757373.1:p.Ala157Ser, NP_757374.2:p.Ala124Ser, NP_001171618.1:p.Ala121Ser

Select item 138715042419.

rs1387150424 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:40016845 (GRCh38)
17:38173098 (GRCh37)
Canonical SPDI:: NC_000017.11:40016844:G:A
Gene:: CSF3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.40016845G>A, NC_000017.10:g.38173098G>A, NM_000759.4:c.510G>A, NM_000759.3:c.510G>A, NM_172219.3:c.501G>A, NM_172219.2:c.501G>A, NM_172220.3:c.402G>A, NM_172220.2:c.402G>A, NR_033662.2:n.712G>A, NR_033662.1:n.791G>A, NM_001178147.2:c.393G>A, NM_001178147.1:c.393G>A, NR_168491.1:n.721G>A, NR_168490.1:n.613G>A, NR_168489.1:n.604G>A, NP_000750.1:p.Met170Ile, NP_757373.1:p.Met167Ile, NP_757374.2:p.Met134Ile, NP_001171618.1:p.Met131Ile

Select item 138201177820.

rs1382011778 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:40016873 (GRCh38)
17:38173126 (GRCh37)
Canonical SPDI:: NC_000017.11:40016872:C:G,NC_000017.11:40016872:C:T
Gene:: CSF3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000008/1 (ExAC)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.40016873C>G, NC_000017.11:g.40016873C>T, NC_000017.10:g.38173126C>G, NC_000017.10:g.38173126C>T, NM_000759.4:c.538C>G, NM_000759.4:c.538C>T, NM_000759.3:c.538C>G, NM_000759.3:c.538C>T, NM_172219.3:c.529C>G, NM_172219.3:c.529C>T, NM_172219.2:c.529C>G, NM_172219.2:c.529C>T, NM_172220.3:c.430C>G, NM_172220.3:c.430C>T, NM_172220.2:c.430C>G, NM_172220.2:c.430C>T, NR_033662.2:n.740C>G, NR_033662.2:n.740C>T, NR_033662.1:n.819C>G, NR_033662.1:n.819C>T, NM_001178147.2:c.421C>G, NM_001178147.2:c.421C>T, NM_001178147.1:c.421C>G, NM_001178147.1:c.421C>T, NR_168491.1:n.749C>G, NR_168491.1:n.749C>T, NR_168490.1:n.641C>G, NR_168490.1:n.641C>T, NR_168489.1:n.632C>G, NR_168489.1:n.632C>T, NP_000750.1:p.Arg180Gly, NP_000750.1:p.Arg180Trp, NP_757373.1:p.Arg177Gly, NP_757373.1:p.Arg177Trp, NP_757374.2:p.Arg144Gly, NP_757374.2:p.Arg144Trp, NP_001171618.1:p.Arg141Gly, NP_001171618.1:p.Arg141Trp

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