SNP Links for Protein (Select 262263388) - SNP

Links from Protein

Items: 1 to 20 of 609

<< First< Prev

Page of 31

Next >Last >>

Select item 14896221101.

rs1489622110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20428908 (GRCh38)
14:20897067 (GRCh37)
Canonical SPDI:: NC_000014.9:20428907:G:A
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20428908G>A, NW_025791796.1:g.631589G>A, NC_000014.8:g.20897067G>A, XM_011536450.3:c.2335C>T, XM_011536450.2:c.2335C>T, XM_011536450.1:c.2335C>T, NM_001109997.3:c.1543C>T, NM_001109997.2:c.1543C>T, NM_001365790.2:c.2335C>T, NM_001365790.1:c.2335C>T, XP_011534752.1:p.Pro779Ser, NP_001103467.2:p.Pro515Ser, NP_001352719.1:p.Pro779Ser

Select item 14886388882.

rs1488638888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20430058 (GRCh38)
14:20898217 (GRCh37)
Canonical SPDI:: NC_000014.9:20430057:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20430058C>T, NW_025791796.1:g.632739C>T, NC_000014.8:g.20898217C>T, XM_011536450.3:c.1410G>A, XM_011536450.2:c.1410G>A, XM_011536450.1:c.1410G>A, NM_001109997.3:c.618G>A, NM_001109997.2:c.618G>A, NM_001365790.2:c.1410G>A, NM_001365790.1:c.1410G>A

Select item 14878299273.

rs1487829927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20430542 (GRCh38)
14:20898701 (GRCh37)
Canonical SPDI:: NC_000014.9:20430541:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000014.9:g.20430542C>T, NW_025791796.1:g.633223C>T, NC_000014.8:g.20898701C>T, XM_011536450.3:c.926G>A, XM_011536450.2:c.926G>A, XM_011536450.1:c.926G>A, NM_001109997.3:c.134G>A, NM_001109997.2:c.134G>A, NM_001365790.2:c.926G>A, NM_001365790.1:c.926G>A, XP_011534752.1:p.Arg309Lys, NP_001103467.2:p.Arg45Lys, NP_001352719.1:p.Arg309Lys

Select item 14868510194.

rs1486851019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 14:20430222 (GRCh38)
14:20898381 (GRCh37)
Canonical SPDI:: NC_000014.9:20430221:C:G,NC_000014.9:20430221:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.20430222C>G, NC_000014.9:g.20430222C>T, NW_025791796.1:g.632903C>G, NW_025791796.1:g.632903C>T, NC_000014.8:g.20898381C>G, NC_000014.8:g.20898381C>T, XM_011536450.3:c.1246G>C, XM_011536450.3:c.1246G>A, XM_011536450.2:c.1246G>C, XM_011536450.2:c.1246G>A, XM_011536450.1:c.1246G>C, XM_011536450.1:c.1246G>A, NM_001109997.3:c.454G>C, NM_001109997.3:c.454G>A, NM_001109997.2:c.454G>C, NM_001109997.2:c.454G>A, NM_001365790.2:c.1246G>C, NM_001365790.2:c.1246G>A, NM_001365790.1:c.1246G>C, NM_001365790.1:c.1246G>A, XP_011534752.1:p.Glu416Gln, XP_011534752.1:p.Glu416Lys, NP_001103467.2:p.Glu152Gln, NP_001103467.2:p.Glu152Lys, NP_001352719.1:p.Glu416Gln, NP_001352719.1:p.Glu416Lys

Select item 14859054875.

rs1485905487 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 14:20429885 (GRCh38)
14:20898044 (GRCh37)
Canonical SPDI:: NC_000014.9:20429884:T:
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20429885del, NW_025791796.1:g.632566del, NC_000014.8:g.20898044del, XM_011536450.3:c.1583del, XM_011536450.2:c.1583del, XM_011536450.1:c.1583del, NM_001109997.3:c.791del, NM_001109997.2:c.791del, NM_001365790.2:c.1583del, NM_001365790.1:c.1583del, XP_011534752.1:p.His528fs, NP_001103467.2:p.His264fs, NP_001352719.1:p.His528fs

Select item 14858532346.

rs1485853234 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20429522 (GRCh38)
14:20897681 (GRCh37)
Canonical SPDI:: NC_000014.9:20429521:G:A
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20429522G>A, NW_025791796.1:g.632203G>A, NC_000014.8:g.20897681G>A, XM_011536450.3:c.1821C>T, XM_011536450.2:c.1821C>T, XM_011536450.1:c.1821C>T, NM_001109997.3:c.1029C>T, NM_001109997.2:c.1029C>T, NM_001365790.2:c.1821C>T, NM_001365790.1:c.1821C>T

Select item 14856702877.

rs1485670287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 14:20430579 (GRCh38)
14:20898738 (GRCh37)
Canonical SPDI:: NC_000014.9:20430578:A:T
Gene:: KLHL33 (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=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20430579A>T, NW_025791796.1:g.633260A>T, NC_000014.8:g.20898738A>T, XM_011536450.3:c.889T>A, XM_011536450.2:c.889T>A, XM_011536450.1:c.889T>A, NM_001109997.3:c.97T>A, NM_001109997.2:c.97T>A, NM_001365790.2:c.889T>A, NM_001365790.1:c.889T>A, XP_011534752.1:p.Ser297Thr, NP_001103467.2:p.Ser33Thr, NP_001352719.1:p.Ser297Thr

Select item 14855252608.

rs1485525260 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20429204 (GRCh38)
14:20897363 (GRCh37)
Canonical SPDI:: NC_000014.9:20429203:A:G
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20429204A>G, NW_025791796.1:g.631885A>G, NC_000014.8:g.20897363A>G, XM_011536450.3:c.2039T>C, XM_011536450.2:c.2039T>C, XM_011536450.1:c.2039T>C, NM_001109997.3:c.1247T>C, NM_001109997.2:c.1247T>C, NM_001365790.2:c.2039T>C, NM_001365790.1:c.2039T>C, XP_011534752.1:p.Leu680Ser, NP_001103467.2:p.Leu416Ser, NP_001352719.1:p.Leu680Ser

Select item 14839391589.

rs1483939158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:20428919 (GRCh38)
14:20897078 (GRCh37)
Canonical SPDI:: NC_000014.9:20428918:A:G,NC_000014.9:20428918:A:T
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20428919A>G, NC_000014.9:g.20428919A>T, NW_025791796.1:g.631600A>G, NW_025791796.1:g.631600A>T, NC_000014.8:g.20897078A>G, NC_000014.8:g.20897078A>T, XM_011536450.3:c.2324T>C, XM_011536450.3:c.2324T>A, XM_011536450.2:c.2324T>C, XM_011536450.2:c.2324T>A, XM_011536450.1:c.2324T>C, XM_011536450.1:c.2324T>A, NM_001109997.3:c.1532T>C, NM_001109997.3:c.1532T>A, NM_001109997.2:c.1532T>C, NM_001109997.2:c.1532T>A, NM_001365790.2:c.2324T>C, NM_001365790.2:c.2324T>A, NM_001365790.1:c.2324T>C, NM_001365790.1:c.2324T>A, XP_011534752.1:p.Ile775Thr, XP_011534752.1:p.Ile775Asn, NP_001103467.2:p.Ile511Thr, NP_001103467.2:p.Ile511Asn, NP_001352719.1:p.Ile775Thr, NP_001352719.1:p.Ile775Asn

Select item 148383625710.

rs1483836257 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:20429622 (GRCh38)
14:20897781 (GRCh37)
Canonical SPDI:: NC_000014.9:20429621:T:C
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20429622T>C, NW_025791796.1:g.632303T>C, NC_000014.8:g.20897781T>C, XM_011536450.3:c.1721A>G, XM_011536450.2:c.1721A>G, XM_011536450.1:c.1721A>G, NM_001109997.3:c.929A>G, NM_001109997.2:c.929A>G, NM_001365790.2:c.1721A>G, NM_001365790.1:c.1721A>G, XP_011534752.1:p.Gln574Arg, NP_001103467.2:p.Gln310Arg, NP_001352719.1:p.Gln574Arg

Select item 148350733411.

rs1483507334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:20429271 (GRCh38)
14:20897430 (GRCh37)
Canonical SPDI:: NC_000014.9:20429270:G:A
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20429271G>A, NW_025791796.1:g.631952G>A, NC_000014.8:g.20897430G>A, XM_011536450.3:c.1972C>T, XM_011536450.2:c.1972C>T, XM_011536450.1:c.1972C>T, NM_001109997.3:c.1180C>T, NM_001109997.2:c.1180C>T, NM_001365790.2:c.1972C>T, NM_001365790.1:c.1972C>T, XP_011534752.1:p.Leu658Phe, NP_001103467.2:p.Leu394Phe, NP_001352719.1:p.Leu658Phe

Select item 147941142512.

rs1479411425 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:20430645 (GRCh38)
14:20898804 (GRCh37)
Canonical SPDI:: NC_000014.9:20430644:C:G
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000531/9 (TOMMO)
G=0.000546/1 (Korea1K)
HGVS:: NC_000014.9:g.20430645C>G, NW_025791796.1:g.633326C>G, NC_000014.8:g.20898804C>G, XM_011536450.3:c.823G>C, XM_011536450.2:c.823G>C, XM_011536450.1:c.823G>C, NM_001109997.3:c.31G>C, NM_001109997.2:c.31G>C, NM_001365790.2:c.823G>C, NM_001365790.1:c.823G>C, XP_011534752.1:p.Gly275Arg, NP_001103467.2:p.Gly11Arg, NP_001352719.1:p.Gly275Arg

Select item 147741573213.

rs1477415732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:20430481 (GRCh38)
14:20898640 (GRCh37)
Canonical SPDI:: NC_000014.9:20430480:G:C,NC_000014.9:20430480:G:T
Gene:: KLHL33 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20430481G>C, NC_000014.9:g.20430481G>T, NW_025791796.1:g.633162G>C, NW_025791796.1:g.633162G>T, NC_000014.8:g.20898640G>C, NC_000014.8:g.20898640G>T, XM_011536450.3:c.987C>G, XM_011536450.3:c.987C>A, XM_011536450.2:c.987C>G, XM_011536450.2:c.987C>A, XM_011536450.1:c.987C>G, XM_011536450.1:c.987C>A, NM_001109997.3:c.195C>G, NM_001109997.3:c.195C>A, NM_001109997.2:c.195C>G, NM_001109997.2:c.195C>A, NM_001365790.2:c.987C>G, NM_001365790.2:c.987C>A, NM_001365790.1:c.987C>G, NM_001365790.1:c.987C>A

Select item 147738503414.

rs1477385034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20428938 (GRCh38)
14:20897097 (GRCh37)
Canonical SPDI:: NC_000014.9:20428937:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20428938C>T, NW_025791796.1:g.631619C>T, NC_000014.8:g.20897097C>T, XM_011536450.3:c.2305G>A, XM_011536450.2:c.2305G>A, XM_011536450.1:c.2305G>A, NM_001109997.3:c.1513G>A, NM_001109997.2:c.1513G>A, NM_001365790.2:c.2305G>A, NM_001365790.1:c.2305G>A, XP_011534752.1:p.Ala769Thr, NP_001103467.2:p.Ala505Thr, NP_001352719.1:p.Ala769Thr

Select item 147560687715.

rs1475606877 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20430415 (GRCh38)
14:20898574 (GRCh37)
Canonical SPDI:: NC_000014.9:20430414:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000014.9:g.20430415C>T, NW_025791796.1:g.633096C>T, NC_000014.8:g.20898574C>T, XM_011536450.3:c.1053G>A, XM_011536450.2:c.1053G>A, XM_011536450.1:c.1053G>A, NM_001109997.3:c.261G>A, NM_001109997.2:c.261G>A, NM_001365790.2:c.1053G>A, NM_001365790.1:c.1053G>A

Select item 147314685316.

rs1473146853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20429897 (GRCh38)
14:20898056 (GRCh37)
Canonical SPDI:: NC_000014.9:20429896:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20429897C>T, NW_025791796.1:g.632578C>T, NC_000014.8:g.20898056C>T, XM_011536450.3:c.1571G>A, XM_011536450.2:c.1571G>A, XM_011536450.1:c.1571G>A, NM_001109997.3:c.779G>A, NM_001109997.2:c.779G>A, NM_001365790.2:c.1571G>A, NM_001365790.1:c.1571G>A, XP_011534752.1:p.Gly524Glu, NP_001103467.2:p.Gly260Glu, NP_001352719.1:p.Gly524Glu

Select item 147299184317.

rs1472991843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:20429208 (GRCh38)
14:20897367 (GRCh37)
Canonical SPDI:: NC_000014.9:20429207:C:T
Gene:: KLHL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.20429208C>T, NW_025791796.1:g.631889C>T, NC_000014.8:g.20897367C>T, XM_011536450.3:c.2035G>A, XM_011536450.2:c.2035G>A, XM_011536450.1:c.2035G>A, NM_001109997.3:c.1243G>A, NM_001109997.2:c.1243G>A, NM_001365790.2:c.2035G>A, NM_001365790.1:c.2035G>A, XP_011534752.1:p.Ala679Thr, NP_001103467.2:p.Ala415Thr, NP_001352719.1:p.Ala679Thr

Select item 147096011018.

rs1470960110 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 14:20430402 (GRCh38)
14:20898561 (GRCh37)
Canonical SPDI:: NC_000014.9:20430401:T:C,NC_000014.9:20430401:T:G
Gene:: KLHL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.20430402T>C, NC_000014.9:g.20430402T>G, NW_025791796.1:g.633083T>C, NW_025791796.1:g.633083T>G, NC_000014.8:g.20898561T>C, NC_000014.8:g.20898561T>G, XM_011536450.3:c.1066A>G, XM_011536450.3:c.1066A>C, XM_011536450.2:c.1066A>G, XM_011536450.2:c.1066A>C, XM_011536450.1:c.1066A>G, XM_011536450.1:c.1066A>C, NM_001109997.3:c.274A>G, NM_001109997.3:c.274A>C, NM_001109997.2:c.274A>G, NM_001109997.2:c.274A>C, NM_001365790.2:c.1066A>G, NM_001365790.2:c.1066A>C, NM_001365790.1:c.1066A>G, NM_001365790.1:c.1066A>C, XP_011534752.1:p.Ser356Gly, XP_011534752.1:p.Ser356Arg, NP_001103467.2:p.Ser92Gly, NP_001103467.2:p.Ser92Arg, NP_001352719.1:p.Ser356Gly, NP_001352719.1:p.Ser356Arg

Select item 147081536919.

rs1470815369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:20430239 (GRCh38)
14:20898398 (GRCh37)
Canonical SPDI:: NC_000014.9:20430238:G:T
Gene:: KLHL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.20430239G>T, NW_025791796.1:g.632920G>T, NC_000014.8:g.20898398G>T, XM_011536450.3:c.1229C>A, XM_011536450.2:c.1229C>A, XM_011536450.1:c.1229C>A, NM_001109997.3:c.437C>A, NM_001109997.2:c.437C>A, NM_001365790.2:c.1229C>A, NM_001365790.1:c.1229C>A, XP_011534752.1:p.Ala410Asp, NP_001103467.2:p.Ala146Asp, NP_001352719.1:p.Ala410Asp

Select item 147051240420.

rs1470512404 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:20429230 (GRCh38)
14:20897389 (GRCh37)
Canonical SPDI:: NC_000014.9:20429229:A:G
Gene:: KLHL33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.20429230A>G, NW_025791796.1:g.631911A>G, NC_000014.8:g.20897389A>G, XM_011536450.3:c.2013T>C, XM_011536450.2:c.2013T>C, XM_011536450.1:c.2013T>C, NM_001109997.3:c.1221T>C, NM_001109997.2:c.1221T>C, NM_001365790.2:c.2013T>C, NM_001365790.1:c.2013T>C

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 609

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity