SNP Links for Protein (Select 104294874) - SNP

Links from Protein

Items: 1 to 20 of 432

<< First< Prev

Page of 22

Next >Last >>

Select item 14884648041.

rs1488464804 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:44130603 (GRCh38)
1:44596275 (GRCh37)
Canonical SPDI:: NC_000001.11:44130602:A:C,NC_000001.11:44130602:A:G
Gene:: KLF17 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44130603A>C, NC_000001.11:g.44130603A>G, NC_000001.10:g.44596275A>C, NC_000001.10:g.44596275A>G, NM_173484.4:c.1017A>C, NM_173484.4:c.1017A>G, NM_173484.3:c.1017A>C, NM_173484.3:c.1017A>G, XM_005270465.4:c.687A>C, XM_005270465.4:c.687A>G, XM_005270465.3:c.687A>C, XM_005270465.3:c.687A>G, XM_005270465.2:c.687A>C, XM_005270465.2:c.687A>G, XM_005270465.1:c.606A>C, XM_005270465.1:c.606A>G, XM_011540704.3:c.630A>C, XM_011540704.3:c.630A>G, XM_011540704.2:c.630A>C, XM_011540704.2:c.630A>G, XM_011540704.1:c.630A>C, XM_011540704.1:c.630A>G, XM_011540700.2:c.906A>C, XM_011540700.2:c.906A>G, XM_011540700.1:c.906A>C, XM_011540700.1:c.906A>G, XM_047445936.1:c.906A>C, XM_047445936.1:c.906A>G, XM_047445938.1:c.906A>C, XM_047445938.1:c.906A>G, NP_775755.3:p.Arg339Ser, XP_005270522.2:p.Arg229Ser, XP_011539006.1:p.Arg210Ser, XP_011539002.1:p.Arg302Ser, XP_047301892.1:p.Arg302Ser, XP_047301894.1:p.Arg302Ser

Select item 14872267612.

rs1487226761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:44130152 (GRCh38)
1:44595824 (GRCh37)
Canonical SPDI:: NC_000001.11:44130151:A:T
Gene:: KLF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44130152A>T, NC_000001.10:g.44595824A>T, NM_173484.4:c.881A>T, NM_173484.3:c.881A>T, XM_005270465.4:c.551A>T, XM_005270465.3:c.551A>T, XM_005270465.2:c.551A>T, XM_005270465.1:c.470A>T, XM_011540704.3:c.494A>T, XM_011540704.2:c.494A>T, XM_011540704.1:c.494A>T, XM_011540700.2:c.770A>T, XM_011540700.1:c.770A>T, XM_047445936.1:c.770A>T, XM_047445938.1:c.770A>T, NP_775755.3:p.Tyr294Phe, XP_005270522.2:p.Tyr184Phe, XP_011539006.1:p.Tyr165Phe, XP_011539002.1:p.Tyr257Phe, XP_047301892.1:p.Tyr257Phe, XP_047301894.1:p.Tyr257Phe

Select item 14837139493.

rs1483713949 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:44130743 (GRCh38)
1:44596415 (GRCh37)
Canonical SPDI:: NC_000001.11:44130742:C:G,NC_000001.11:44130742:C:T
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44130743C>G, NC_000001.11:g.44130743C>T, NC_000001.10:g.44596415C>G, NC_000001.10:g.44596415C>T, NM_173484.4:c.1157C>G, NM_173484.4:c.1157C>T, NM_173484.3:c.1157C>G, NM_173484.3:c.1157C>T, XM_005270465.4:c.827C>G, XM_005270465.4:c.827C>T, XM_005270465.3:c.827C>G, XM_005270465.3:c.827C>T, XM_005270465.2:c.827C>G, XM_005270465.2:c.827C>T, XM_005270465.1:c.746C>G, XM_005270465.1:c.746C>T, XM_011540704.3:c.770C>G, XM_011540704.3:c.770C>T, XM_011540704.2:c.770C>G, XM_011540704.2:c.770C>T, XM_011540704.1:c.770C>G, XM_011540704.1:c.770C>T, XM_011540700.2:c.1046C>G, XM_011540700.2:c.1046C>T, XM_011540700.1:c.1046C>G, XM_011540700.1:c.1046C>T, XM_047445936.1:c.1046C>G, XM_047445936.1:c.1046C>T, XM_047445938.1:c.1046C>G, XM_047445938.1:c.1046C>T, NP_775755.3:p.Ala386Gly, NP_775755.3:p.Ala386Val, XP_005270522.2:p.Ala276Gly, XP_005270522.2:p.Ala276Val, XP_011539006.1:p.Ala257Gly, XP_011539006.1:p.Ala257Val, XP_011539002.1:p.Ala349Gly, XP_011539002.1:p.Ala349Val, XP_047301892.1:p.Ala349Gly, XP_047301892.1:p.Ala349Val, XP_047301894.1:p.Ala349Gly, XP_047301894.1:p.Ala349Val

Select item 14812983054.

rs1481298305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44129742 (GRCh38)
1:44595414 (GRCh37)
Canonical SPDI:: NC_000001.11:44129741:G:A
Gene:: KLF17 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.44129742G>A, NC_000001.10:g.44595414G>A, NM_173484.4:c.471G>A, NM_173484.3:c.471G>A, XM_011540700.2:c.360G>A, XM_011540700.1:c.360G>A, XM_047445936.1:c.360G>A, XM_047445938.1:c.360G>A

Select item 14763680475.

rs1476368047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:44129493 (GRCh38)
1:44595165 (GRCh37)
Canonical SPDI:: NC_000001.11:44129492:T:C
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44129493T>C, NC_000001.10:g.44595165T>C, NM_173484.4:c.222T>C, NM_173484.3:c.222T>C, XM_005270465.4:c.303T>C, XM_005270465.3:c.303T>C, XM_005270465.2:c.303T>C, XM_005270465.1:c.222T>C, XM_011540704.3:c.303T>C, XM_011540704.2:c.303T>C, XM_011540704.1:c.303T>C, XM_011540700.2:c.111T>C, XM_011540700.1:c.111T>C, XM_047445936.1:c.111T>C, XM_047445938.1:c.111T>C

Select item 14702947326.

rs1470294732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44129612 (GRCh38)
1:44595284 (GRCh37)
Canonical SPDI:: NC_000001.11:44129611:G:A
Gene:: KLF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44129612G>A, NC_000001.10:g.44595284G>A, NM_173484.4:c.341G>A, NM_173484.3:c.341G>A, XM_011540700.2:c.230G>A, XM_011540700.1:c.230G>A, XM_047445936.1:c.230G>A, XM_047445938.1:c.230G>A, NP_775755.3:p.Cys114Tyr, XP_011539002.1:p.Cys77Tyr, XP_047301892.1:p.Cys77Tyr, XP_047301894.1:p.Cys77Tyr

Select item 14702363457.

rs1470236345 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 1:44130536 (GRCh38)
1:44596208 (GRCh37)
Canonical SPDI:: NC_000001.11:44130535:GGG:GG
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.44130538del, NC_000001.10:g.44596210del, NM_173484.4:c.952del, NM_173484.3:c.952del, XM_005270465.4:c.622del, XM_005270465.3:c.622del, XM_005270465.2:c.622del, XM_005270465.1:c.541del, XM_011540704.3:c.565del, XM_011540704.2:c.565del, XM_011540704.1:c.565del, XM_011540700.2:c.841del, XM_011540700.1:c.841del, XM_047445936.1:c.841del, XM_047445938.1:c.841del, NP_775755.3:p.Glu318fs, XP_005270522.2:p.Glu208fs, XP_011539006.1:p.Glu189fs, XP_011539002.1:p.Glu281fs, XP_047301892.1:p.Glu281fs, XP_047301894.1:p.Glu281fs

Select item 14688645868.

rs1468864586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44129940 (GRCh38)
1:44595612 (GRCh37)
Canonical SPDI:: NC_000001.11:44129939:C:T
Gene:: KLF17 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.44129940C>T, NC_000001.10:g.44595612C>T, NM_173484.4:c.669C>T, NM_173484.3:c.669C>T, XM_011540700.2:c.558C>T, XM_011540700.1:c.558C>T, XM_047445936.1:c.558C>T, XM_047445938.1:c.558C>T

Select item 14668686079.

rs1466868607 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:44118926 (GRCh38)
1:44584598 (GRCh37)
Canonical SPDI:: NC_000001.11:44118925:G:T
Gene:: KLF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000001.11:g.44118926G>T, NC_000001.10:g.44584598G>T, NM_173484.4:c.19G>T, NM_173484.3:c.19G>T, XM_005270465.4:c.100G>T, XM_005270465.3:c.100G>T, XM_005270465.2:c.100G>T, XM_005270465.1:c.19G>T, XM_011540704.3:c.100G>T, XM_011540704.2:c.100G>T, XM_011540704.1:c.100G>T, NP_775755.3:p.Ala7Ser, XP_005270522.2:p.Ala34Ser, XP_011539006.1:p.Ala34Ser

Select item 146190720210.

rs1461907202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:44129999 (GRCh38)
1:44595671 (GRCh37)
Canonical SPDI:: NC_000001.11:44129998:C:G,NC_000001.11:44129998:C:T
Gene:: KLF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.44129999C>G, NC_000001.11:g.44129999C>T, NC_000001.10:g.44595671C>G, NC_000001.10:g.44595671C>T, NM_173484.4:c.728C>G, NM_173484.4:c.728C>T, NM_173484.3:c.728C>G, NM_173484.3:c.728C>T, XM_005270465.4:c.398C>G, XM_005270465.4:c.398C>T, XM_005270465.3:c.398C>G, XM_005270465.3:c.398C>T, XM_005270465.2:c.398C>G, XM_005270465.2:c.398C>T, XM_005270465.1:c.317C>G, XM_005270465.1:c.317C>T, XM_011540700.2:c.617C>G, XM_011540700.2:c.617C>T, XM_011540700.1:c.617C>G, XM_011540700.1:c.617C>T, XM_047445936.1:c.617C>G, XM_047445936.1:c.617C>T, XM_047445938.1:c.617C>G, XM_047445938.1:c.617C>T, NP_775755.3:p.Pro243Arg, NP_775755.3:p.Pro243Leu, XP_005270522.2:p.Pro133Arg, XP_005270522.2:p.Pro133Leu, XP_011539002.1:p.Pro206Arg, XP_011539002.1:p.Pro206Leu, XP_047301892.1:p.Pro206Arg, XP_047301892.1:p.Pro206Leu, XP_047301894.1:p.Pro206Arg, XP_047301894.1:p.Pro206Leu

Select item 146016738311.

rs1460167383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:44129443 (GRCh38)
1:44595115 (GRCh37)
Canonical SPDI:: NC_000001.11:44129442:A:G
Gene:: KLF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.44129443A>G, NC_000001.10:g.44595115A>G, NM_173484.4:c.172A>G, NM_173484.3:c.172A>G, XM_005270465.4:c.253A>G, XM_005270465.3:c.253A>G, XM_005270465.2:c.253A>G, XM_005270465.1:c.172A>G, XM_011540704.3:c.253A>G, XM_011540704.2:c.253A>G, XM_011540704.1:c.253A>G, XM_011540700.2:c.61A>G, XM_011540700.1:c.61A>G, XM_047445936.1:c.61A>G, XM_047445938.1:c.61A>G, NP_775755.3:p.Ile58Val, XP_005270522.2:p.Ile85Val, XP_011539006.1:p.Ile85Val, XP_011539002.1:p.Ile21Val, XP_047301892.1:p.Ile21Val, XP_047301894.1:p.Ile21Val

Select item 145984588412.

rs1459845884 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44118960 (GRCh38)
1:44584632 (GRCh37)
Canonical SPDI:: NC_000001.11:44118959:G:A
Gene:: KLF17 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44118960G>A, NC_000001.10:g.44584632G>A, NM_173484.4:c.53G>A, NM_173484.3:c.53G>A, XM_005270465.4:c.134G>A, XM_005270465.3:c.134G>A, XM_005270465.2:c.134G>A, XM_005270465.1:c.53G>A, XM_011540704.3:c.134G>A, XM_011540704.2:c.134G>A, XM_011540704.1:c.134G>A, NP_775755.3:p.Arg18Gln, XP_005270522.2:p.Arg45Gln, XP_011539006.1:p.Arg45Gln

Select item 145904615913.

rs1459046159 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:44118961 (GRCh38)
1:44584633 (GRCh37)
Canonical SPDI:: NC_000001.11:44118960:G:A
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44118961G>A, NC_000001.10:g.44584633G>A, NM_173484.4:c.54G>A, NM_173484.3:c.54G>A, XM_005270465.4:c.135G>A, XM_005270465.3:c.135G>A, XM_005270465.2:c.135G>A, XM_005270465.1:c.54G>A, XM_011540704.3:c.135G>A, XM_011540704.2:c.135G>A, XM_011540704.1:c.135G>A

Select item 145659305314.

rs1456593053 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGACTCTCTTGTCAGTCAGCC [Show Flanks]
Chromosome:: 1:44129978 (GRCh38)
1:44595651 (GRCh37)
Canonical SPDI:: NC_000001.11:44129978:GGACTCTCTTGTCAGTCAGCC:GGACTCTCTTGTCAGTCAGCCGGACTCTCTTGTCAGTCAGCC
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,inframe_insertion
Validated:: by frequency
MAF:: GGACTCTCTTGTCAGTCAGCC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44129979_44129999dup, NC_000001.10:g.44595651_44595671dup, NM_173484.4:c.708_728dup, NM_173484.3:c.708_728dup, XM_005270465.4:c.378_398dup, XM_005270465.3:c.378_398dup, XM_005270465.2:c.378_398dup, XM_005270465.1:c.297_317dup, XM_011540700.2:c.597_617dup, XM_011540700.1:c.597_617dup, XM_047445936.1:c.597_617dup, XM_047445938.1:c.597_617dup, NP_775755.3:p.Leu239_Ser245dup, XP_005270522.2:p.Leu129_Ser135dup, XP_011539002.1:p.Leu202_Ser208dup, XP_047301892.1:p.Leu202_Ser208dup, XP_047301894.1:p.Leu202_Ser208dup

Select item 145463669215.

rs1454636692 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:44129933 (GRCh38)
1:44595605 (GRCh37)
Canonical SPDI:: NC_000001.11:44129932:G:T
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.44129933G>T, NC_000001.10:g.44595605G>T, NM_173484.4:c.662G>T, NM_173484.3:c.662G>T, XM_011540700.2:c.551G>T, XM_011540700.1:c.551G>T, XM_047445936.1:c.551G>T, XM_047445938.1:c.551G>T, NP_775755.3:p.Gly221Val, XP_011539002.1:p.Gly184Val, XP_047301892.1:p.Gly184Val, XP_047301894.1:p.Gly184Val

Select item 145380109616.

rs1453801096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:44129424 (GRCh38)
1:44595096 (GRCh37)
Canonical SPDI:: NC_000001.11:44129423:G:A,NC_000001.11:44129423:G:C
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: C=0.0003/1 (KOREAN)
HGVS:: NC_000001.11:g.44129424G>A, NC_000001.11:g.44129424G>C, NC_000001.10:g.44595096G>A, NC_000001.10:g.44595096G>C, NM_173484.4:c.153G>A, NM_173484.4:c.153G>C, NM_173484.3:c.153G>A, NM_173484.3:c.153G>C, XM_005270465.4:c.234G>A, XM_005270465.4:c.234G>C, XM_005270465.3:c.234G>A, XM_005270465.3:c.234G>C, XM_005270465.2:c.234G>A, XM_005270465.2:c.234G>C, XM_005270465.1:c.153G>A, XM_005270465.1:c.153G>C, XM_011540704.3:c.234G>A, XM_011540704.3:c.234G>C, XM_011540704.2:c.234G>A, XM_011540704.2:c.234G>C, XM_011540704.1:c.234G>A, XM_011540704.1:c.234G>C, XM_011540700.2:c.42G>A, XM_011540700.2:c.42G>C, XM_011540700.1:c.42G>A, XM_011540700.1:c.42G>C, XM_047445936.1:c.42G>A, XM_047445936.1:c.42G>C, XM_047445938.1:c.42G>A, XM_047445938.1:c.42G>C, NP_775755.3:p.Trp51Ter, NP_775755.3:p.Trp51Cys, XP_005270522.2:p.Trp78Ter, XP_005270522.2:p.Trp78Cys, XP_011539006.1:p.Trp78Ter, XP_011539006.1:p.Trp78Cys, XP_011539002.1:p.Trp14Ter, XP_011539002.1:p.Trp14Cys, XP_047301892.1:p.Trp14Ter, XP_047301892.1:p.Trp14Cys, XP_047301894.1:p.Trp14Ter, XP_047301894.1:p.Trp14Cys

Select item 145027238317.

rs1450272383 has merged into rs777923330 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 1:44129524 (GRCh38)
1:44595196 (GRCh37)
Canonical SPDI:: NC_000001.11:44129523:GGGGGG:GGGGG,NC_000001.11:44129523:GGGGGG:GGGGGGG
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000072/18 (GnomAD_exomes)
-=0.000092/11 (ExAC)
HGVS:: NC_000001.11:g.44129529del, NC_000001.11:g.44129529dup, NC_000001.10:g.44595201del, NC_000001.10:g.44595201dup, NM_173484.4:c.258del, NM_173484.4:c.258dup, NM_173484.3:c.258del, NM_173484.3:c.258dup, XM_005270465.4:c.339del, XM_005270465.4:c.339dup, XM_005270465.3:c.339del, XM_005270465.3:c.339dup, XM_005270465.2:c.339del, XM_005270465.2:c.339dup, XM_005270465.1:c.258del, XM_005270465.1:c.258dup, XM_011540704.3:c.339del, XM_011540704.3:c.339dup, XM_011540704.2:c.339del, XM_011540704.2:c.339dup, XM_011540704.1:c.339del, XM_011540704.1:c.339dup, XM_011540700.2:c.147del, XM_011540700.2:c.147dup, XM_011540700.1:c.147del, XM_011540700.1:c.147dup, XM_047445936.1:c.147del, XM_047445936.1:c.147dup, XM_047445938.1:c.147del, XM_047445938.1:c.147dup, NP_775755.3:p.Pro87fs, NP_775755.3:p.Pro87fs, XP_005270522.2:p.Pro114fs, XP_005270522.2:p.Pro114fs, XP_011539006.1:p.Pro114fs, XP_011539006.1:p.Pro114fs, XP_011539002.1:p.Pro50fs, XP_011539002.1:p.Pro50fs, XP_047301892.1:p.Pro50fs, XP_047301892.1:p.Pro50fs, XP_047301894.1:p.Pro50fs, XP_047301894.1:p.Pro50fs

Select item 144759345018.

rs1447593450 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:44129540 (GRCh38)
1:44595212 (GRCh37)
Canonical SPDI:: NC_000001.11:44129539:G:T
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44129540G>T, NC_000001.10:g.44595212G>T, NM_173484.4:c.269G>T, NM_173484.3:c.269G>T, XM_005270465.4:c.350G>T, XM_005270465.3:c.350G>T, XM_005270465.2:c.350G>T, XM_005270465.1:c.269G>T, XM_011540704.3:c.350G>T, XM_011540704.2:c.350G>T, XM_011540704.1:c.350G>T, XM_011540700.2:c.158G>T, XM_011540700.1:c.158G>T, XM_047445936.1:c.158G>T, XM_047445938.1:c.158G>T, NP_775755.3:p.Ser90Ile, XP_005270522.2:p.Ser117Ile, XP_011539006.1:p.Ser117Ile, XP_011539002.1:p.Ser53Ile, XP_047301892.1:p.Ser53Ile, XP_047301894.1:p.Ser53Ile

Select item 144696493519.

rs1446964935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:44129565 (GRCh38)
1:44595237 (GRCh37)
Canonical SPDI:: NC_000001.11:44129564:G:A,NC_000001.11:44129564:G:T
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.44129565G>A, NC_000001.11:g.44129565G>T, NC_000001.10:g.44595237G>A, NC_000001.10:g.44595237G>T, NM_173484.4:c.294G>A, NM_173484.4:c.294G>T, NM_173484.3:c.294G>A, NM_173484.3:c.294G>T, XM_011540700.2:c.183G>A, XM_011540700.2:c.183G>T, XM_011540700.1:c.183G>A, XM_011540700.1:c.183G>T, XM_047445936.1:c.183G>A, XM_047445936.1:c.183G>T, XM_047445938.1:c.183G>A, XM_047445938.1:c.183G>T, NP_775755.3:p.Met98Ile, NP_775755.3:p.Met98Ile, XP_011539002.1:p.Met61Ile, XP_011539002.1:p.Met61Ile, XP_047301892.1:p.Met61Ile, XP_047301892.1:p.Met61Ile, XP_047301894.1:p.Met61Ile, XP_047301894.1:p.Met61Ile

Select item 144690920520.

rs1446909205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:44129798 (GRCh38)
1:44595470 (GRCh37)
Canonical SPDI:: NC_000001.11:44129797:C:T
Gene:: KLF17 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.44129798C>T, NC_000001.10:g.44595470C>T, NM_173484.4:c.527C>T, NM_173484.3:c.527C>T, XM_011540700.2:c.416C>T, XM_011540700.1:c.416C>T, XM_047445936.1:c.416C>T, XM_047445938.1:c.416C>T, NP_775755.3:p.Pro176Leu, XP_011539002.1:p.Pro139Leu, XP_047301892.1:p.Pro139Leu, XP_047301894.1:p.Pro139Leu

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 432

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity