SNP Links for Protein (Select 768023484) - SNP

Select item 14909616961.

rs1490961696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:36938030 (GRCh38)
22:37334072 (GRCh37)
Canonical SPDI:: NC_000022.11:36938029:C:A,NC_000022.11:36938029:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.36938030C>A, NC_000022.11:g.36938030C>T, NC_000022.10:g.37334072C>A, NC_000022.10:g.37334072C>T, NG_008040.1:g.29398C>A, NG_008040.1:g.29398C>T, NM_000395.3:c.2222C>A, NM_000395.3:c.2222C>T, NM_000395.2:c.2222C>A, NM_000395.2:c.2222C>T, NM_001410827.1:c.2240C>A, NM_001410827.1:c.2240C>T, XM_005261340.4:c.2240C>A, XM_005261340.4:c.2240C>T, XM_011529903.3:c.2276C>A, XM_011529903.3:c.2276C>T, XM_011529903.2:c.2276C>A, XM_011529903.2:c.2276C>T, XM_011529903.1:c.2276C>A, XM_011529903.1:c.2276C>T, XM_011529904.3:c.2258C>A, XM_011529904.3:c.2258C>T, XM_011529904.2:c.2258C>A, XM_011529904.2:c.2258C>T, XM_011529904.1:c.2258C>A, XM_011529904.1:c.2258C>T, XM_047441149.1:c.*582C>A, XM_047441149.1:c.*582C>T, XM_047441150.1:c.*582C>A, XM_047441150.1:c.*582C>T, XM_047441148.1:c.1889C>A, XM_047441148.1:c.1889C>T, NP_000386.1:p.Thr741Asn, NP_000386.1:p.Thr741Ile, XP_005261397.1:p.Thr747Asn, XP_005261397.1:p.Thr747Ile, XP_011528205.1:p.Thr759Asn, XP_011528205.1:p.Thr759Ile, XP_011528206.1:p.Thr753Asn, XP_011528206.1:p.Thr753Ile, XP_047297104.1:p.Thr630Asn, XP_047297104.1:p.Thr630Ile

Select item 14907327842.

rs1490732784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 22:36937458 (GRCh38)
22:37333500 (GRCh37)
Canonical SPDI:: NC_000022.11:36937457:T:G
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36937458T>G, NC_000022.10:g.37333500T>G, NG_008040.1:g.28826T>G, NM_000395.3:c.1650T>G, NM_000395.2:c.1650T>G, NM_001410827.1:c.1668T>G, XM_005261340.4:c.1668T>G, XM_011529903.3:c.1704T>G, XM_011529903.2:c.1704T>G, XM_011529903.1:c.1704T>G, XM_011529904.3:c.1686T>G, XM_011529904.2:c.1686T>G, XM_011529904.1:c.1686T>G, XM_047441149.1:c.*10T>G, XM_047441150.1:c.*10T>G, XM_047441148.1:c.1317T>G

Select item 14905688683.

rs1490568868 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:36937735 (GRCh38)
22:37333777 (GRCh37)
Canonical SPDI:: NC_000022.11:36937734:G:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.36937735G>T, NC_000022.10:g.37333777G>T, NG_008040.1:g.29103G>T, NM_000395.3:c.1927G>T, NM_000395.2:c.1927G>T, NM_001410827.1:c.1945G>T, XM_005261340.4:c.1945G>T, XM_011529903.3:c.1981G>T, XM_011529903.2:c.1981G>T, XM_011529903.1:c.1981G>T, XM_011529904.3:c.1963G>T, XM_011529904.2:c.1963G>T, XM_011529904.1:c.1963G>T, XM_047441149.1:c.*287G>T, XM_047441150.1:c.*287G>T, XM_047441148.1:c.1594G>T, NP_000386.1:p.Ala643Ser, XP_005261397.1:p.Ala649Ser, XP_011528205.1:p.Ala661Ser, XP_011528206.1:p.Ala655Ser, XP_047297104.1:p.Ala532Ser

Select item 14898175884.

rs1489817588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:36937775 (GRCh38)
22:37333817 (GRCh37)
Canonical SPDI:: NC_000022.11:36937774:G:A
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.00007/1 (TOMMO)
HGVS:: NC_000022.11:g.36937775G>A, NC_000022.10:g.37333817G>A, NG_008040.1:g.29143G>A, NM_000395.3:c.1967G>A, NM_000395.2:c.1967G>A, NM_001410827.1:c.1985G>A, XM_005261340.4:c.1985G>A, XM_011529903.3:c.2021G>A, XM_011529903.2:c.2021G>A, XM_011529903.1:c.2021G>A, XM_011529904.3:c.2003G>A, XM_011529904.2:c.2003G>A, XM_011529904.1:c.2003G>A, XM_047441149.1:c.*327G>A, XM_047441150.1:c.*327G>A, XM_047441148.1:c.1634G>A, NP_000386.1:p.Arg656Lys, XP_005261397.1:p.Arg662Lys, XP_011528205.1:p.Arg674Lys, XP_011528206.1:p.Arg668Lys, XP_047297104.1:p.Arg545Lys

Select item 14890906335.

rs1489090633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36933849 (GRCh38)
22:37329891 (GRCh37)
Canonical SPDI:: NC_000022.11:36933848:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.36933849C>T, NC_000022.10:g.37329891C>T, NG_008040.1:g.25217C>T, NM_000395.3:c.1170C>T, NM_000395.2:c.1170C>T, NM_001410827.1:c.1188C>T, XM_005261340.4:c.1188C>T, XM_011529903.3:c.1188C>T, XM_011529903.2:c.1188C>T, XM_011529903.1:c.1188C>T, XM_011529904.3:c.1170C>T, XM_011529904.2:c.1170C>T, XM_011529904.1:c.1170C>T, XM_047441149.1:c.1188C>T, XM_047441150.1:c.1170C>T, XM_047441148.1:c.801C>T

Select item 14873191216.

rs1487319121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:36930673 (GRCh38)
22:37326715 (GRCh37)
Canonical SPDI:: NC_000022.11:36930672:G:T
Gene:: CSF2RB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
HGVS:: NC_000022.11:g.36930673G>T, NC_000022.10:g.37326715G>T, NG_008040.1:g.22041G>T, NM_000395.3:c.855G>T, NM_000395.2:c.855G>T, NM_001410827.1:c.873G>T, XM_005261340.4:c.873G>T, XM_011529903.3:c.873G>T, XM_011529903.2:c.873G>T, XM_011529903.1:c.873G>T, XM_011529904.3:c.855G>T, XM_011529904.2:c.855G>T, XM_011529904.1:c.855G>T, XM_047441149.1:c.873G>T, XM_047441150.1:c.855G>T, XM_047441148.1:c.486G>T, XP_005261397.1:p.Arg291Ser, XP_011528205.1:p.Arg291Ser, XP_047297105.1:p.Arg291Ser, XP_047297104.1:p.Arg162Ser

Select item 14868189727.

rs1486818972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:36937832 (GRCh38)
22:37333874 (GRCh37)
Canonical SPDI:: NC_000022.11:36937831:C:A
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.36937832C>A, NC_000022.10:g.37333874C>A, NG_008040.1:g.29200C>A, NM_000395.3:c.2024C>A, NM_000395.2:c.2024C>A, NM_001410827.1:c.2042C>A, XM_005261340.4:c.2042C>A, XM_011529903.3:c.2078C>A, XM_011529903.2:c.2078C>A, XM_011529903.1:c.2078C>A, XM_011529904.3:c.2060C>A, XM_011529904.2:c.2060C>A, XM_011529904.1:c.2060C>A, XM_047441149.1:c.*384C>A, XM_047441150.1:c.*384C>A, XM_047441148.1:c.1691C>A, NP_000386.1:p.Ala675Asp, XP_005261397.1:p.Ala681Asp, XP_011528205.1:p.Ala693Asp, XP_011528206.1:p.Ala687Asp, XP_047297104.1:p.Ala564Asp

Select item 14868038828.

rs1486803882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGAT [Show Flanks]
Chromosome:: 22:36930736 (GRCh38)
22:37326779 (GRCh37)
Canonical SPDI:: NC_000022.11:36930736:CAGAT:CAGATCAGAT
Gene:: CSF2RB (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: CAGAT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36930737_36930741dup, NC_000022.10:g.37326779_37326783dup, NG_008040.1:g.22105_22109dup, NM_000395.3:c.919_923dup, NM_000395.2:c.919_923dup, NM_001410827.1:c.937_941dup, XM_005261340.4:c.937_941dup, XM_011529903.3:c.937_941dup, XM_011529903.2:c.937_941dup, XM_011529903.1:c.937_941dup, XM_011529904.3:c.919_923dup, XM_011529904.2:c.919_923dup, XM_011529904.1:c.919_923dup, XM_047441149.1:c.937_941dup, XM_047441150.1:c.919_923dup, XM_047441148.1:c.550_554dup, NP_000386.1:p.Pro309fs, XP_005261397.1:p.Pro315fs, XP_011528205.1:p.Pro315fs, XP_011528206.1:p.Pro309fs, XP_047297105.1:p.Pro315fs, XP_047297106.1:p.Pro309fs, XP_047297104.1:p.Pro186fs

Select item 14837307069.

rs1483730706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:36922256 (GRCh38)
22:37318298 (GRCh37)
Canonical SPDI:: NC_000022.11:36922255:T:C
Gene:: CSF2RB (Varview), LOC105373023 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
HGVS:: NC_000022.11:g.36922256T>C, NC_000022.10:g.37318298T>C, NG_008040.1:g.13624T>C, NM_000395.3:c.49T>C, NM_000395.2:c.49T>C, NM_001410827.1:c.49T>C, XM_005261340.4:c.49T>C, XM_011529903.3:c.49T>C, XM_011529903.2:c.49T>C, XM_011529903.1:c.49T>C, XM_011529904.3:c.49T>C, XM_011529904.2:c.49T>C, XM_011529904.1:c.49T>C, XM_047441149.1:c.49T>C, XM_047441150.1:c.49T>C, NP_000386.1:p.Trp17Arg, XP_005261397.1:p.Trp17Arg, XP_011528205.1:p.Trp17Arg, XP_011528206.1:p.Trp17Arg, XP_047297105.1:p.Trp17Arg, XP_047297106.1:p.Trp17Arg

Select item 148277294910.

rs1482772949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:36930747 (GRCh38)
22:37326789 (GRCh37)
Canonical SPDI:: NC_000022.11:36930746:T:C
Gene:: CSF2RB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36930747T>C, NC_000022.10:g.37326789T>C, NG_008040.1:g.22115T>C, NM_000395.3:c.929T>C, NM_000395.2:c.929T>C, NM_001410827.1:c.947T>C, XM_005261340.4:c.947T>C, XM_011529903.3:c.947T>C, XM_011529903.2:c.947T>C, XM_011529903.1:c.947T>C, XM_011529904.3:c.929T>C, XM_011529904.2:c.929T>C, XM_011529904.1:c.929T>C, XM_047441149.1:c.947T>C, XM_047441150.1:c.929T>C, XM_047441148.1:c.560T>C, NP_000386.1:p.Val310Ala, XP_005261397.1:p.Val316Ala, XP_011528205.1:p.Val316Ala, XP_011528206.1:p.Val310Ala, XP_047297105.1:p.Val316Ala, XP_047297106.1:p.Val310Ala, XP_047297104.1:p.Val187Ala

Select item 148273902611.

rs1482739026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:36937919 (GRCh38)
22:37333961 (GRCh37)
Canonical SPDI:: NC_000022.11:36937918:A:G
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36937919A>G, NC_000022.10:g.37333961A>G, NG_008040.1:g.29287A>G, NM_000395.3:c.2111A>G, NM_000395.2:c.2111A>G, NM_001410827.1:c.2129A>G, XM_005261340.4:c.2129A>G, XM_011529903.3:c.2165A>G, XM_011529903.2:c.2165A>G, XM_011529903.1:c.2165A>G, XM_011529904.3:c.2147A>G, XM_011529904.2:c.2147A>G, XM_011529904.1:c.2147A>G, XM_047441149.1:c.*471A>G, XM_047441150.1:c.*471A>G, XM_047441148.1:c.1778A>G, NP_000386.1:p.Asp704Gly, XP_005261397.1:p.Asp710Gly, XP_011528205.1:p.Asp722Gly, XP_011528206.1:p.Asp716Gly, XP_047297104.1:p.Asp593Gly

Select item 148162218612.

rs1481622186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:36937725 (GRCh38)
22:37333767 (GRCh37)
Canonical SPDI:: NC_000022.11:36937724:G:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.36937725G>T, NC_000022.10:g.37333767G>T, NG_008040.1:g.29093G>T, NM_000395.3:c.1917G>T, NM_000395.2:c.1917G>T, NM_001410827.1:c.1935G>T, XM_005261340.4:c.1935G>T, XM_011529903.3:c.1971G>T, XM_011529903.2:c.1971G>T, XM_011529903.1:c.1971G>T, XM_011529904.3:c.1953G>T, XM_011529904.2:c.1953G>T, XM_011529904.1:c.1953G>T, XM_047441149.1:c.*277G>T, XM_047441150.1:c.*277G>T, XM_047441148.1:c.1584G>T

Select item 147943373013.

rs1479433730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:36937972 (GRCh38)
22:37334014 (GRCh37)
Canonical SPDI:: NC_000022.11:36937971:A:C
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36937972A>C, NC_000022.10:g.37334014A>C, NG_008040.1:g.29340A>C, NM_000395.3:c.2164A>C, NM_000395.2:c.2164A>C, NM_001410827.1:c.2182A>C, XM_005261340.4:c.2182A>C, XM_011529903.3:c.2218A>C, XM_011529903.2:c.2218A>C, XM_011529903.1:c.2218A>C, XM_011529904.3:c.2200A>C, XM_011529904.2:c.2200A>C, XM_011529904.1:c.2200A>C, XM_047441149.1:c.*524A>C, XM_047441150.1:c.*524A>C, XM_047441148.1:c.1831A>C, NP_000386.1:p.Asn722His, XP_005261397.1:p.Asn728His, XP_011528205.1:p.Asn740His, XP_011528206.1:p.Asn734His, XP_047297104.1:p.Asn611His

Select item 147942254514.

rs1479422545 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36937738 (GRCh38)
22:37333780 (GRCh37)
Canonical SPDI:: NC_000022.11:36937737:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36937738C>T, NC_000022.10:g.37333780C>T, NG_008040.1:g.29106C>T, NM_000395.3:c.1930C>T, NM_000395.2:c.1930C>T, NM_001410827.1:c.1948C>T, XM_005261340.4:c.1948C>T, XM_011529903.3:c.1984C>T, XM_011529903.2:c.1984C>T, XM_011529903.1:c.1984C>T, XM_011529904.3:c.1966C>T, XM_011529904.2:c.1966C>T, XM_011529904.1:c.1966C>T, XM_047441149.1:c.*290C>T, XM_047441150.1:c.*290C>T, XM_047441148.1:c.1597C>T, NP_000386.1:p.Gln644Ter, XP_005261397.1:p.Gln650Ter, XP_011528205.1:p.Gln662Ter, XP_011528206.1:p.Gln656Ter, XP_047297104.1:p.Gln533Ter

Select item 147831630015.

rs1478316300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:36935399 (GRCh38)
22:37331441 (GRCh37)
Canonical SPDI:: NC_000022.11:36935398:C:G
Gene:: CSF2RB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36935399C>G, NC_000022.10:g.37331441C>G, NG_008040.1:g.26767C>G, NM_000395.3:c.1364C>G, NM_000395.2:c.1364C>G, NM_001410827.1:c.1382C>G, XM_005261340.4:c.1382C>G, XM_011529903.3:c.1418C>G, XM_011529903.2:c.1418C>G, XM_011529903.1:c.1418C>G, XM_011529904.3:c.1400C>G, XM_011529904.2:c.1400C>G, XM_011529904.1:c.1400C>G, XM_047441149.1:c.1382C>G, XM_047441150.1:c.1364C>G, XM_047441148.1:c.1031C>G, NP_000386.1:p.Ala455Gly, XP_005261397.1:p.Ala461Gly, XP_011528205.1:p.Ala473Gly, XP_011528206.1:p.Ala467Gly, XP_047297105.1:p.Ala461Gly, XP_047297106.1:p.Ala455Gly, XP_047297104.1:p.Ala344Gly

Select item 147600979116.

rs1476009791 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 22:36938038 (GRCh38)
22:37334080 (GRCh37)
Canonical SPDI:: NC_000022.11:36938037:T:C,NC_000022.11:36938037:T:G
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.36938038T>C, NC_000022.11:g.36938038T>G, NC_000022.10:g.37334080T>C, NC_000022.10:g.37334080T>G, NG_008040.1:g.29406T>C, NG_008040.1:g.29406T>G, NM_000395.3:c.2230T>C, NM_000395.3:c.2230T>G, NM_000395.2:c.2230T>C, NM_000395.2:c.2230T>G, NM_001410827.1:c.2248T>C, NM_001410827.1:c.2248T>G, XM_005261340.4:c.2248T>C, XM_005261340.4:c.2248T>G, XM_011529903.3:c.2284T>C, XM_011529903.3:c.2284T>G, XM_011529903.2:c.2284T>C, XM_011529903.2:c.2284T>G, XM_011529903.1:c.2284T>C, XM_011529903.1:c.2284T>G, XM_011529904.3:c.2266T>C, XM_011529904.3:c.2266T>G, XM_011529904.2:c.2266T>C, XM_011529904.2:c.2266T>G, XM_011529904.1:c.2266T>C, XM_011529904.1:c.2266T>G, XM_047441149.1:c.*590T>C, XM_047441149.1:c.*590T>G, XM_047441150.1:c.*590T>C, XM_047441150.1:c.*590T>G, XM_047441148.1:c.1897T>C, XM_047441148.1:c.1897T>G, NP_000386.1:p.Leu744Val, XP_005261397.1:p.Leu750Val, XP_011528205.1:p.Leu762Val, XP_011528206.1:p.Leu756Val, XP_047297104.1:p.Leu633Val

Select item 147542789117.

rs1475427891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36929748 (GRCh38)
22:37325790 (GRCh37)
Canonical SPDI:: NC_000022.11:36929747:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.36929748C>T, NC_000022.10:g.37325790C>T, NG_008040.1:g.21116C>T, NM_000395.3:c.659C>T, NM_000395.2:c.659C>T, NM_001410827.1:c.659C>T, XM_005261340.4:c.659C>T, XM_011529903.3:c.659C>T, XM_011529903.2:c.659C>T, XM_011529903.1:c.659C>T, XM_011529904.3:c.659C>T, XM_011529904.2:c.659C>T, XM_011529904.1:c.659C>T, XM_047441149.1:c.659C>T, XM_047441150.1:c.659C>T, XM_047441148.1:c.272C>T, NP_000386.1:p.Ser220Phe, XP_005261397.1:p.Ser220Phe, XP_011528205.1:p.Ser220Phe, XP_011528206.1:p.Ser220Phe, XP_047297105.1:p.Ser220Phe, XP_047297106.1:p.Ser220Phe, XP_047297104.1:p.Ser91Phe

Select item 147410631718.

rs1474106317 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36937995 (GRCh38)
22:37334037 (GRCh37)
Canonical SPDI:: NC_000022.11:36937994:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.36937995C>T, NC_000022.10:g.37334037C>T, NG_008040.1:g.29363C>T, NM_000395.3:c.2187C>T, NM_000395.2:c.2187C>T, NM_001410827.1:c.2205C>T, XM_005261340.4:c.2205C>T, XM_011529903.3:c.2241C>T, XM_011529903.2:c.2241C>T, XM_011529903.1:c.2241C>T, XM_011529904.3:c.2223C>T, XM_011529904.2:c.2223C>T, XM_011529904.1:c.2223C>T, XM_047441149.1:c.*547C>T, XM_047441150.1:c.*547C>T, XM_047441148.1:c.1854C>T

Select item 147333660619.

rs1473336606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:36937582 (GRCh38)
22:37333624 (GRCh37)
Canonical SPDI:: NC_000022.11:36937581:C:T
Gene:: CSF2RB (Varview)
Functional Consequence:: 3_prime_UTR_variant,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_000022.11:g.36937582C>T, NC_000022.10:g.37333624C>T, NG_008040.1:g.28950C>T, NM_000395.3:c.1774C>T, NM_000395.2:c.1774C>T, NM_001410827.1:c.1792C>T, XM_005261340.4:c.1792C>T, XM_011529903.3:c.1828C>T, XM_011529903.2:c.1828C>T, XM_011529903.1:c.1828C>T, XM_011529904.3:c.1810C>T, XM_011529904.2:c.1810C>T, XM_011529904.1:c.1810C>T, XM_047441149.1:c.*134C>T, XM_047441150.1:c.*134C>T, XM_047441148.1:c.1441C>T, NP_000386.1:p.Pro592Ser, XP_005261397.1:p.Pro598Ser, XP_011528205.1:p.Pro610Ser, XP_011528206.1:p.Pro604Ser, XP_047297104.1:p.Pro481Ser

Select item 147307118320.

rs1473071183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:36923358 (GRCh38)
22:37319400 (GRCh37)
Canonical SPDI:: NC_000022.11:36923357:G:A
Gene:: CSF2RB (Varview), LOC105373023 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000022.11:g.36923358G>A, NC_000022.10:g.37319400G>A, NG_008040.1:g.14726G>A, NM_000395.3:c.191G>A, NM_000395.2:c.191G>A, NM_001410827.1:c.191G>A, XM_005261340.4:c.191G>A, XM_011529903.3:c.191G>A, XM_011529903.2:c.191G>A, XM_011529903.1:c.191G>A, XM_011529904.3:c.191G>A, XM_011529904.2:c.191G>A, XM_011529904.1:c.191G>A, XM_047441149.1:c.191G>A, XM_047441150.1:c.191G>A, XM_047441148.1:c.-6G>A, NP_000386.1:p.Arg64Gln, XP_005261397.1:p.Arg64Gln, XP_011528205.1:p.Arg64Gln, XP_011528206.1:p.Arg64Gln, XP_047297105.1:p.Arg64Gln, XP_047297106.1:p.Arg64Gln

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