SNP Links for Protein (Select 6005810) - SNP

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Links from Protein

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Select item 14908021121.

rs1490802112 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38614272 (GRCh38)
19:39104912 (GRCh37)
Canonical SPDI:: NC_000019.10:38614271:T:C
Gene:: MAP4K1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000019.10:g.38614272T>C, NC_000019.9:g.39104912T>C, NW_014040929.1:g.23908T>C, NM_007181.6:c.390A>G, NM_007181.5:c.390A>G, NM_007181.4:c.390A>G, NM_001042600.3:c.390A>G, NM_001042600.2:c.390A>G, NM_001042600.1:c.390A>G, XM_011526404.2:c.390A>G, XM_011526404.1:c.390A>G

Select item 14906866462.

rs1490686646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38605468 (GRCh38)
19:39096108 (GRCh37)
Canonical SPDI:: NC_000019.10:38605467:A:G
Gene:: MAP4K1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38605468A>G, NC_000019.9:g.39096108A>G, NW_014040929.1:g.15104A>G, NM_007181.6:c.1387T>C, NM_007181.5:c.1387T>C, NM_007181.4:c.1387T>C, NM_001042600.3:c.1387T>C, NM_001042600.2:c.1387T>C, NM_001042600.1:c.1387T>C, XM_011526404.2:c.1507T>C, XM_011526404.1:c.1507T>C, NP_009112.1:p.Ser463Pro, NP_001036065.1:p.Ser463Pro, XP_011524706.1:p.Ser503Pro

Select item 14868711103.

rs1486871110 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:38609673 (GRCh38)
19:39100313 (GRCh37)
Canonical SPDI:: NC_000019.10:38609672:A:T
Gene:: MAP4K1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.38609673A>T, NC_000019.9:g.39100313A>T, NW_014040929.1:g.19309A>T, NM_007181.6:c.929T>A, NM_007181.5:c.929T>A, NM_007181.4:c.929T>A, NM_001042600.3:c.929T>A, NM_001042600.2:c.929T>A, NM_001042600.1:c.929T>A, XM_011526404.2:c.929T>A, XM_011526404.1:c.929T>A, NP_009112.1:p.Leu310Gln, NP_001036065.1:p.Leu310Gln, XP_011524706.1:p.Leu310Gln

Select item 14858177824.

rs1485817782 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:38606175 (GRCh38)
19:39096816 (GRCh37)
Canonical SPDI:: NC_000019.10:38606175:GGGGGG:GGGGGGG
Gene:: MAP4K1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.38606181dup, NC_000019.9:g.39096821dup, NW_014040929.1:g.15817dup, NM_007181.6:c.1197dup, NM_007181.5:c.1197dup, NM_007181.4:c.1197dup, NM_001042600.3:c.1197dup, NM_001042600.2:c.1197dup, NM_001042600.1:c.1197dup, XM_011526404.2:c.1317dup, XM_011526404.1:c.1317dup, NP_009112.1:p.Lys400fs, NP_001036065.1:p.Lys400fs, XP_011524706.1:p.Lys440fs

Select item 14848093035.

rs1484809303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38595691 (GRCh38)
19:39086331 (GRCh37)
Canonical SPDI:: NC_000019.10:38595690:G:A
Gene:: MAP4K1 (Varview), MAP4K1-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38595691G>A, NC_000019.9:g.39086331G>A, NW_014040929.1:g.5327G>A, NM_007181.6:c.2218C>T, NM_007181.5:c.2218C>T, NM_007181.4:c.2218C>T, NM_001042600.3:c.2218C>T, NM_001042600.2:c.2218C>T, NM_001042600.1:c.2218C>T, XM_011526404.2:c.2338C>T, XM_011526404.1:c.2338C>T, NP_009112.1:p.Arg740Trp, NP_001036065.1:p.Arg740Trp, XP_011524706.1:p.Arg780Trp

Select item 14825575656.

rs1482557565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:38601479 (GRCh38)
19:39092119 (GRCh37)
Canonical SPDI:: NC_000019.10:38601478:A:G,NC_000019.10:38601478:A:T
Gene:: MAP4K1 (Varview), MAP4K1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
G=0.000248/7 (TOMMO)
HGVS:: NC_000019.10:g.38601479A>G, NC_000019.10:g.38601479A>T, NC_000019.9:g.39092119A>G, NC_000019.9:g.39092119A>T, NW_014040929.1:g.11115A>G, NW_014040929.1:g.11115A>T, NM_007181.6:c.1493T>C, NM_007181.6:c.1493T>A, NM_007181.5:c.1493T>C, NM_007181.5:c.1493T>A, NM_007181.4:c.1493T>C, NM_007181.4:c.1493T>A, NM_001042600.3:c.1493T>C, NM_001042600.3:c.1493T>A, NM_001042600.2:c.1493T>C, NM_001042600.2:c.1493T>A, NM_001042600.1:c.1493T>C, NM_001042600.1:c.1493T>A, XM_011526404.2:c.1613T>C, XM_011526404.2:c.1613T>A, XM_011526404.1:c.1613T>C, XM_011526404.1:c.1613T>A, NR_134907.1:n.300A>G, NR_134907.1:n.300A>T, NP_009112.1:p.Ile498Thr, NP_009112.1:p.Ile498Asn, NP_001036065.1:p.Ile498Thr, NP_001036065.1:p.Ile498Asn, XP_011524706.1:p.Ile538Thr, XP_011524706.1:p.Ile538Asn

Select item 14823337347.

rs1482333734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:38597064 (GRCh38)
19:39087704 (GRCh37)
Canonical SPDI:: NC_000019.10:38597063:G:A,NC_000019.10:38597063:G:C
Gene:: MAP4K1 (Varview), MAP4K1-AS1 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38597064G>A, NC_000019.10:g.38597064G>C, NC_000019.9:g.39087704G>A, NC_000019.9:g.39087704G>C, NW_014040929.1:g.6700G>A, NW_014040929.1:g.6700G>C, NM_007181.6:c.1911C>T, NM_007181.6:c.1911C>G, NM_007181.5:c.1911C>T, NM_007181.5:c.1911C>G, NM_007181.4:c.1911C>T, NM_007181.4:c.1911C>G, NM_001042600.3:c.1911C>T, NM_001042600.3:c.1911C>G, NM_001042600.2:c.1911C>T, NM_001042600.2:c.1911C>G, NM_001042600.1:c.1911C>T, NM_001042600.1:c.1911C>G, XM_011526404.2:c.2031C>T, XM_011526404.2:c.2031C>G, XM_011526404.1:c.2031C>T, XM_011526404.1:c.2031C>G, NP_009112.1:p.Tyr637Ter, NP_001036065.1:p.Tyr637Ter, XP_011524706.1:p.Tyr677Ter

Select item 14812167568.

rs1481216756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38596448 (GRCh38)
19:39087088 (GRCh37)
Canonical SPDI:: NC_000019.10:38596447:G:A
Gene:: MAP4K1 (Varview), MAP4K1-AS1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.38596448G>A, NC_000019.9:g.39087088G>A, NW_014040929.1:g.6084G>A, NM_007181.6:c.1980C>T, NM_007181.5:c.1980C>T, NM_007181.4:c.1980C>T, NM_001042600.3:c.1980C>T, NM_001042600.2:c.1980C>T, NM_001042600.1:c.1980C>T, XM_011526404.2:c.2100C>T, XM_011526404.1:c.2100C>T

Select item 14763805419.

rs1476380541 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:38617369 (GRCh38)
19:39108009 (GRCh37)
Canonical SPDI:: NC_000019.10:38617368:T:C
Gene:: MAP4K1 (Varview), EIF3K (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38617369T>C, NC_000019.9:g.39108009T>C, NW_014040929.1:g.27005T>C, NM_007181.6:c.233A>G, NM_007181.5:c.233A>G, NM_007181.4:c.233A>G, NM_001042600.3:c.233A>G, NM_001042600.2:c.233A>G, NM_001042600.1:c.233A>G, XM_011526404.2:c.233A>G, XM_011526404.1:c.233A>G, NP_009112.1:p.His78Arg, NP_001036065.1:p.His78Arg, XP_011524706.1:p.His78Arg

Select item 147384076410.

rs1473840764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38609620 (GRCh38)
19:39100260 (GRCh37)
Canonical SPDI:: NC_000019.10:38609619:C:T
Gene:: MAP4K1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38609620C>T, NC_000019.9:g.39100260C>T, NW_014040929.1:g.19256C>T, NM_007181.6:c.982G>A, NM_007181.5:c.982G>A, NM_007181.4:c.982G>A, NM_001042600.3:c.982G>A, NM_001042600.2:c.982G>A, NM_001042600.1:c.982G>A, XM_011526404.2:c.982G>A, XM_011526404.1:c.982G>A, NP_009112.1:p.Gly328Arg, NP_001036065.1:p.Gly328Arg, XP_011524706.1:p.Gly328Arg

Select item 147247378811.

rs1472473788 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:38611254 (GRCh38)
19:39101894 (GRCh37)
Canonical SPDI:: NC_000019.10:38611253:T:G
Gene:: MAP4K1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38611254T>G, NC_000019.9:g.39101894T>G, NW_014040929.1:g.20890T>G, NM_007181.6:c.717A>C, NM_007181.5:c.717A>C, NM_007181.4:c.717A>C, NM_001042600.3:c.717A>C, NM_001042600.2:c.717A>C, NM_001042600.1:c.717A>C, XM_011526404.2:c.717A>C, XM_011526404.1:c.717A>C, NP_009112.1:p.Glu239Asp, NP_001036065.1:p.Glu239Asp, XP_011524706.1:p.Glu239Asp

Select item 147117368312.

rs1471173683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:38605635 (GRCh38)
19:39096275 (GRCh37)
Canonical SPDI:: NC_000019.10:38605634:G:A
Gene:: MAP4K1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38605635G>A, NC_000019.9:g.39096275G>A, NW_014040929.1:g.15271G>A, NM_007181.6:c.1296C>T, NM_007181.5:c.1296C>T, NM_007181.4:c.1296C>T, NM_001042600.3:c.1296C>T, NM_001042600.2:c.1296C>T, NM_001042600.1:c.1296C>T, XM_011526404.2:c.1416C>T, XM_011526404.1:c.1416C>T

Select item 146822794313.

rs1468227943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38607890 (GRCh38)
19:39098530 (GRCh37)
Canonical SPDI:: NC_000019.10:38607889:A:G
Gene:: MAP4K1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.38607890A>G, NC_000019.9:g.39098530A>G, NW_014040929.1:g.17526A>G, NM_007181.6:c.1131T>C, NM_007181.5:c.1131T>C, NM_007181.4:c.1131T>C, NM_001042600.3:c.1131T>C, NM_001042600.2:c.1131T>C, NM_001042600.1:c.1131T>C, XM_011526404.2:c.1131T>C, XM_011526404.1:c.1131T>C

Select item 146806349414.

rs1468063494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:38610017 (GRCh38)
19:39100657 (GRCh37)
Canonical SPDI:: NC_000019.10:38610016:C:G
Gene:: MAP4K1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38610017C>G, NC_000019.9:g.39100657C>G, NW_014040929.1:g.19653C>G, NM_007181.6:c.819G>C, NM_007181.5:c.819G>C, NM_007181.4:c.819G>C, NM_001042600.3:c.819G>C, NM_001042600.2:c.819G>C, NM_001042600.1:c.819G>C, XM_011526404.2:c.819G>C, XM_011526404.1:c.819G>C

Select item 146699744815.

rs1466997448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:38617859 (GRCh38)
19:39108499 (GRCh37)
Canonical SPDI:: NC_000019.10:38617858:G:C
Gene:: MAP4K1 (Varview), EIF3K (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38617859G>C, NC_000019.9:g.39108499G>C, NW_014040929.1:g.27495G>C, NM_007181.6:c.37C>G, NM_007181.5:c.37C>G, NM_007181.4:c.37C>G, NM_001042600.3:c.37C>G, NM_001042600.2:c.37C>G, NM_001042600.1:c.37C>G, XM_011526404.2:c.37C>G, XM_011526404.1:c.37C>G, NP_009112.1:p.Pro13Ala, NP_001036065.1:p.Pro13Ala, XP_011524706.1:p.Pro13Ala

Select item 146679613016.

rs1466796130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38596409 (GRCh38)
19:39087049 (GRCh37)
Canonical SPDI:: NC_000019.10:38596408:C:T
Gene:: MAP4K1 (Varview), MAP4K1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.38596409C>T, NC_000019.9:g.39087049C>T, NW_014040929.1:g.6045C>T, NM_007181.6:c.2019G>A, NM_007181.5:c.2019G>A, NM_007181.4:c.2019G>A, NM_001042600.3:c.2019G>A, NM_001042600.2:c.2019G>A, NM_001042600.1:c.2019G>A, XM_011526404.2:c.2139G>A, XM_011526404.1:c.2139G>A, NR_134907.1:n.63C>T

Select item 146551205817.

rs1465512058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:38596426 (GRCh38)
19:39087066 (GRCh37)
Canonical SPDI:: NC_000019.10:38596425:A:G
Gene:: MAP4K1 (Varview), MAP4K1-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.38596426A>G, NC_000019.9:g.39087066A>G, NW_014040929.1:g.6062A>G, NM_007181.6:c.2002T>C, NM_007181.5:c.2002T>C, NM_007181.4:c.2002T>C, NM_001042600.3:c.2002T>C, NM_001042600.2:c.2002T>C, NM_001042600.1:c.2002T>C, XM_011526404.2:c.2122T>C, XM_011526404.1:c.2122T>C, NR_134907.1:n.80A>G, NP_009112.1:p.Ser668Pro, NP_001036065.1:p.Ser668Pro, XP_011524706.1:p.Ser708Pro

Select item 146460879018.

rs1464608790 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38617621 (GRCh38)
19:39108261 (GRCh37)
Canonical SPDI:: NC_000019.10:38617620:C:T
Gene:: MAP4K1 (Varview), EIF3K (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38617621C>T, NC_000019.9:g.39108261C>T, NW_014040929.1:g.27257C>T, NM_007181.6:c.104G>A, NM_007181.5:c.104G>A, NM_007181.4:c.104G>A, NM_001042600.3:c.104G>A, NM_001042600.2:c.104G>A, NM_001042600.1:c.104G>A, XM_011526404.2:c.104G>A, XM_011526404.1:c.104G>A, NP_009112.1:p.Arg35Gln, NP_001036065.1:p.Arg35Gln, XP_011524706.1:p.Arg35Gln

Select item 146280227219.

rs1462802272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:38617806 (GRCh38)
19:39108446 (GRCh37)
Canonical SPDI:: NC_000019.10:38617805:T:A,NC_000019.10:38617805:T:C
Gene:: MAP4K1 (Varview), EIF3K (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.38617806T>A, NC_000019.10:g.38617806T>C, NC_000019.9:g.39108446T>A, NC_000019.9:g.39108446T>C, NW_014040929.1:g.27442T>A, NW_014040929.1:g.27442T>C, NM_007181.6:c.90A>T, NM_007181.6:c.90A>G, NM_007181.5:c.90A>T, NM_007181.5:c.90A>G, NM_007181.4:c.90A>T, NM_007181.4:c.90A>G, NM_001042600.3:c.90A>T, NM_001042600.3:c.90A>G, NM_001042600.2:c.90A>T, NM_001042600.2:c.90A>G, NM_001042600.1:c.90A>T, NM_001042600.1:c.90A>G, XM_011526404.2:c.90A>T, XM_011526404.2:c.90A>G, XM_011526404.1:c.90A>T, XM_011526404.1:c.90A>G, NP_009112.1:p.Glu30Asp, NP_001036065.1:p.Glu30Asp, XP_011524706.1:p.Glu30Asp

Select item 146147236820.

rs1461472368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:38607874 (GRCh38)
19:39098514 (GRCh37)
Canonical SPDI:: NC_000019.10:38607873:C:T
Gene:: MAP4K1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.38607874C>T, NC_000019.9:g.39098514C>T, NW_014040929.1:g.17510C>T, NM_007181.6:c.1147G>A, NM_007181.5:c.1147G>A, NM_007181.4:c.1147G>A, NM_001042600.3:c.1147G>A, NM_001042600.2:c.1147G>A, NM_001042600.1:c.1147G>A, XM_011526404.2:c.1147G>A, XM_011526404.1:c.1147G>A, NP_009112.1:p.Asp383Asn, NP_001036065.1:p.Asp383Asn, XP_011524706.1:p.Asp383Asn

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