SNP Links for Nucleotide (Select 51317381) - SNP - NCBI

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Links from Nucleotide

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Select item 14899480331.

rs1489948033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:128533895 (GRCh38)
9:131296174 (GRCh37)
Canonical SPDI:: NC_000009.12:128533894:C:G
Gene:: GLE1 (Varview), LOC101929270 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_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_000009.12:g.128533895C>G, NC_000009.11:g.131296174C>G, NG_012073.1:g.34204C>G, NM_001003722.2:c.1590C>G, NM_001003722.1:c.1590C>G, NM_001499.2:c.1590C>G, NM_001411013.1:c.1617C>G, XM_006717060.4:c.1599C>G, XM_006717060.3:c.1599C>G, XM_006717060.2:c.1599C>G, XM_006717060.1:c.1599C>G, XM_011518551.3:c.1617C>G, XM_024447519.2:c.1599C>G, XM_024447519.1:c.1599C>G, XM_011518549.2:c.1626C>G, XM_011518549.1:c.1626C>G, XM_011518550.2:c.1626C>G, XM_011518550.1:c.1626C>G, XM_047423234.1:c.1599C>G, XM_047423235.1:c.867C>G, XM_047423236.1:c.840C>G, NP_001003722.1:p.Tyr530Ter, NP_001490.1:p.Tyr530Ter, XP_006717123.1:p.Tyr533Ter, XP_011516853.1:p.Tyr539Ter, XP_024303287.1:p.Tyr533Ter, XP_011516851.1:p.Tyr542Ter, XP_011516852.1:p.Tyr542Ter, XP_047279190.1:p.Tyr533Ter, XP_047279191.1:p.Tyr289Ter, XP_047279192.1:p.Tyr280Ter

Select item 14888955642.

rs1488895564 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:128539746 (GRCh38)
9:131302025 (GRCh37)
Canonical SPDI:: NC_000009.12:128539745:C:A,NC_000009.12:128539745:C:T
Gene:: GLE1 (Varview), LOC101929270 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.128539746C>A, NC_000009.12:g.128539746C>T, NC_000009.11:g.131302025C>A, NC_000009.11:g.131302025C>T, NG_012073.1:g.40055C>A, NG_012073.1:g.40055C>T, NM_001499.2:c.*32C>A, NM_001499.2:c.*32C>T

Select item 14872989293.

rs1487298929 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:128533816 (GRCh38)
9:131296095 (GRCh37)
Canonical SPDI:: NC_000009.12:128533815:TT:T
Gene:: GLE1 (Varview), LOC101929270 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128533817del, NC_000009.11:g.131296096del, NG_012073.1:g.34126del, NM_001003722.2:c.1512del, NM_001003722.1:c.1512del, NM_001499.2:c.1512del, NM_001411013.1:c.1539del, XM_006717060.4:c.1521del, XM_006717060.3:c.1521del, XM_006717060.2:c.1521del, XM_006717060.1:c.1521del, XM_011518551.3:c.1539del, XM_024447519.2:c.1521del, XM_024447519.1:c.1521del, XM_011518549.2:c.1548del, XM_011518549.1:c.1548del, XM_011518550.2:c.1548del, XM_011518550.1:c.1548del, XM_047423234.1:c.1521del, XM_047423235.1:c.789del, XM_047423236.1:c.762del, NP_001003722.1:p.Val505fs, NP_001490.1:p.Val505fs, XP_006717123.1:p.Val508fs, XP_011516853.1:p.Val514fs, XP_024303287.1:p.Val508fs, XP_011516851.1:p.Val517fs, XP_011516852.1:p.Val517fs, XP_047279190.1:p.Val508fs, XP_047279191.1:p.Val264fs, XP_047279192.1:p.Val255fs

Select item 14868226944.

rs1486822694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128525415 (GRCh38)
9:131287694 (GRCh37)
Canonical SPDI:: NC_000009.12:128525414:A:G
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128525415A>G, NC_000009.11:g.131287694A>G, NG_012073.1:g.25724A>G, NM_001003722.2:c.1121A>G, NM_001003722.1:c.1121A>G, NM_001499.2:c.1121A>G, NM_001411013.1:c.1121A>G, XM_006717060.4:c.1130A>G, XM_006717060.3:c.1130A>G, XM_006717060.2:c.1130A>G, XM_006717060.1:c.1130A>G, XM_011518551.3:c.1121A>G, XM_024447519.2:c.1130A>G, XM_024447519.1:c.1130A>G, XM_011518549.2:c.1130A>G, XM_011518549.1:c.1130A>G, XM_011518550.2:c.1130A>G, XM_011518550.1:c.1130A>G, XM_047423234.1:c.1130A>G, XM_047423235.1:c.371A>G, XM_047423236.1:c.371A>G, NP_001003722.1:p.Gln374Arg, NP_001490.1:p.Gln374Arg, XP_006717123.1:p.Gln377Arg, XP_011516853.1:p.Gln374Arg, XP_024303287.1:p.Gln377Arg, XP_011516851.1:p.Gln377Arg, XP_011516852.1:p.Gln377Arg, XP_047279190.1:p.Gln377Arg, XP_047279191.1:p.Gln124Arg, XP_047279192.1:p.Gln124Arg

Select item 14830573635.

rs1483057363 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 9:128539819 (GRCh38)
9:131302098 (GRCh37)
Canonical SPDI:: NC_000009.12:128539818:A:C,NC_000009.12:128539818:A:G
Gene:: GLE1 (Varview), LOC101929270 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000043/6 (GnomAD)
G=0.000684/2 (KOREAN)
HGVS:: NC_000009.12:g.128539819A>C, NC_000009.12:g.128539819A>G, NC_000009.11:g.131302098A>C, NC_000009.11:g.131302098A>G, NG_012073.1:g.40128A>C, NG_012073.1:g.40128A>G, NM_001499.2:c.*105A>C, NM_001499.2:c.*105A>G

Select item 14784407596.

rs1478440759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128527505 (GRCh38)
9:131289784 (GRCh37)
Canonical SPDI:: NC_000009.12:128527504:G:A
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000009.12:g.128527505G>A, NC_000009.11:g.131289784G>A, NG_012073.1:g.27814G>A, NM_001003722.2:c.1292G>A, NM_001003722.1:c.1292G>A, NM_001499.2:c.1292G>A, NM_001411013.1:c.1292G>A, XM_006717060.4:c.1301G>A, XM_006717060.3:c.1301G>A, XM_006717060.2:c.1301G>A, XM_006717060.1:c.1301G>A, XM_011518551.3:c.1292G>A, XM_024447519.2:c.1301G>A, XM_024447519.1:c.1301G>A, XM_011518549.2:c.1301G>A, XM_011518549.1:c.1301G>A, XM_011518550.2:c.1301G>A, XM_011518550.1:c.1301G>A, XM_047423234.1:c.1301G>A, XM_047423235.1:c.542G>A, XM_047423236.1:c.542G>A, NP_001003722.1:p.Ser431Asn, NP_001490.1:p.Ser431Asn, XP_006717123.1:p.Ser434Asn, XP_011516853.1:p.Ser431Asn, XP_024303287.1:p.Ser434Asn, XP_011516851.1:p.Ser434Asn, XP_011516852.1:p.Ser434Asn, XP_047279190.1:p.Ser434Asn, XP_047279191.1:p.Ser181Asn, XP_047279192.1:p.Ser181Asn

Select item 14782116837.

rs1478211683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:128539649 (GRCh38)
9:131301928 (GRCh37)
Canonical SPDI:: NC_000009.12:128539648:G:T
Gene:: GLE1 (Varview), LOC101929270 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128539649G>T, NC_000009.11:g.131301928G>T, NG_012073.1:g.39958G>T, NM_001003722.2:c.1915G>T, NM_001003722.1:c.1915G>T, NM_001499.2:c.1915G>T, NM_001411013.1:c.1942G>T, XM_006717060.4:c.1924G>T, XM_006717060.3:c.1924G>T, XM_006717060.2:c.1924G>T, XM_006717060.1:c.1924G>T, XM_011518551.3:c.1942G>T, XM_024447519.2:c.1924G>T, XM_024447519.1:c.1924G>T, XM_011518549.2:c.1951G>T, XM_011518549.1:c.1951G>T, XM_011518550.2:c.1951G>T, XM_011518550.1:c.1951G>T, XM_047423234.1:c.1924G>T, XM_047423235.1:c.1192G>T, XM_047423236.1:c.1165G>T, NP_001003722.1:p.Val639Phe, NP_001490.1:p.Val639Phe, XP_006717123.1:p.Val642Phe, XP_011516853.1:p.Val648Phe, XP_024303287.1:p.Val642Phe, XP_011516851.1:p.Val651Phe, XP_011516852.1:p.Val651Phe, XP_047279190.1:p.Val642Phe, XP_047279191.1:p.Val398Phe, XP_047279192.1:p.Val389Phe

Select item 14763502338.

rs1476350233 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:128536402 (GRCh38)
9:131298681 (GRCh37)
Canonical SPDI:: NC_000009.12:128536401:A:G
Gene:: GLE1 (Varview), LOC101929270 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128536402A>G, NC_000009.11:g.131298681A>G, NG_012073.1:g.36711A>G, NM_001003722.2:c.1694A>G, NM_001003722.1:c.1694A>G, NM_001499.2:c.1694A>G, NM_001411013.1:c.1721A>G, XM_006717060.4:c.1703A>G, XM_006717060.3:c.1703A>G, XM_006717060.2:c.1703A>G, XM_006717060.1:c.1703A>G, XM_011518551.3:c.1721A>G, XM_024447519.2:c.1703A>G, XM_024447519.1:c.1703A>G, XM_011518549.2:c.1730A>G, XM_011518549.1:c.1730A>G, XM_011518550.2:c.1730A>G, XM_011518550.1:c.1730A>G, XM_047423234.1:c.1703A>G, XM_047423235.1:c.971A>G, XM_047423236.1:c.944A>G, NP_001003722.1:p.Asn565Ser, NP_001490.1:p.Asn565Ser, XP_006717123.1:p.Asn568Ser, XP_011516853.1:p.Asn574Ser, XP_024303287.1:p.Asn568Ser, XP_011516851.1:p.Asn577Ser, XP_011516852.1:p.Asn577Ser, XP_047279190.1:p.Asn568Ser, XP_047279191.1:p.Asn324Ser, XP_047279192.1:p.Asn315Ser

Select item 14762524739.

rs1476252473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:128533844 (GRCh38)
9:131296123 (GRCh37)
Canonical SPDI:: NC_000009.12:128533843:C:T
Gene:: GLE1 (Varview), LOC101929270 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128533844C>T, NC_000009.11:g.131296123C>T, NG_012073.1:g.34153C>T, NM_001003722.2:c.1539C>T, NM_001003722.1:c.1539C>T, NM_001499.2:c.1539C>T, NM_001411013.1:c.1566C>T, XM_006717060.4:c.1548C>T, XM_006717060.3:c.1548C>T, XM_006717060.2:c.1548C>T, XM_006717060.1:c.1548C>T, XM_011518551.3:c.1566C>T, XM_024447519.2:c.1548C>T, XM_024447519.1:c.1548C>T, XM_011518549.2:c.1575C>T, XM_011518549.1:c.1575C>T, XM_011518550.2:c.1575C>T, XM_011518550.1:c.1575C>T, XM_047423234.1:c.1548C>T, XM_047423235.1:c.816C>T, XM_047423236.1:c.789C>T

Select item 147279648110.

rs1472796481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128504897 (GRCh38)
9:131267176 (GRCh37)
Canonical SPDI:: NC_000009.12:128504896:G:A
Gene:: GLE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128504897G>A, NC_000009.11:g.131267176G>A, NG_012073.1:g.5206G>A, NM_001003722.2:c.92G>A, NM_001003722.1:c.92G>A, NM_001499.2:c.92G>A, NM_001411013.1:c.92G>A, XM_006717060.4:c.-25G>A, XM_006717060.3:c.-25G>A, XM_006717060.2:c.-25G>A, XM_011518551.3:c.92G>A, XM_024447519.2:c.-155G>A, NP_001003722.1:p.Arg31Gln, NP_001490.1:p.Arg31Gln, XP_011516853.1:p.Arg31Gln

Select item 146972064011.

rs1469720640 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:128509039 (GRCh38)
9:131271318 (GRCh37)
Canonical SPDI:: NC_000009.12:128509038:C:A,NC_000009.12:128509038:C:T
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128509039C>A, NC_000009.12:g.128509039C>T, NC_000009.11:g.131271318C>A, NC_000009.11:g.131271318C>T, NG_012073.1:g.9348C>A, NG_012073.1:g.9348C>T, NM_001003722.2:c.263C>A, NM_001003722.2:c.263C>T, NM_001003722.1:c.263C>A, NM_001003722.1:c.263C>T, NM_001499.2:c.263C>A, NM_001499.2:c.263C>T, NM_001411013.1:c.263C>A, NM_001411013.1:c.263C>T, XM_006717060.4:c.272C>A, XM_006717060.4:c.272C>T, XM_006717060.3:c.272C>A, XM_006717060.3:c.272C>T, XM_006717060.2:c.272C>A, XM_006717060.2:c.272C>T, XM_006717060.1:c.272C>A, XM_006717060.1:c.272C>T, XM_011518551.3:c.263C>A, XM_011518551.3:c.263C>T, XM_024447519.2:c.272C>A, XM_024447519.2:c.272C>T, XM_024447519.1:c.272C>A, XM_024447519.1:c.272C>T, XM_011518549.2:c.272C>A, XM_011518549.2:c.272C>T, XM_011518549.1:c.272C>A, XM_011518549.1:c.272C>T, XM_011518550.2:c.272C>A, XM_011518550.2:c.272C>T, XM_011518550.1:c.272C>A, XM_011518550.1:c.272C>T, XM_047423234.1:c.272C>A, XM_047423234.1:c.272C>T, NP_001003722.1:p.Ser88Tyr, NP_001003722.1:p.Ser88Phe, NP_001490.1:p.Ser88Tyr, NP_001490.1:p.Ser88Phe, XP_006717123.1:p.Ser91Tyr, XP_006717123.1:p.Ser91Phe, XP_011516853.1:p.Ser88Tyr, XP_011516853.1:p.Ser88Phe, XP_024303287.1:p.Ser91Tyr, XP_024303287.1:p.Ser91Phe, XP_011516851.1:p.Ser91Tyr, XP_011516851.1:p.Ser91Phe, XP_011516852.1:p.Ser91Tyr, XP_011516852.1:p.Ser91Phe, XP_047279190.1:p.Ser91Tyr, XP_047279190.1:p.Ser91Phe

Select item 146892878312.

rs1468928783 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128509029 (GRCh38)
9:131271308 (GRCh37)
Canonical SPDI:: NC_000009.12:128509028:G:A
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_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)
HGVS:: NC_000009.12:g.128509029G>A, NC_000009.11:g.131271308G>A, NG_012073.1:g.9338G>A, NM_001003722.2:c.253G>A, NM_001003722.1:c.253G>A, NM_001499.2:c.253G>A, NM_001411013.1:c.253G>A, XM_006717060.4:c.262G>A, XM_006717060.3:c.262G>A, XM_006717060.2:c.262G>A, XM_006717060.1:c.262G>A, XM_011518551.3:c.253G>A, XM_024447519.2:c.262G>A, XM_024447519.1:c.262G>A, XM_011518549.2:c.262G>A, XM_011518549.1:c.262G>A, XM_011518550.2:c.262G>A, XM_011518550.1:c.262G>A, XM_047423234.1:c.262G>A, NP_001003722.1:p.Val85Ile, NP_001490.1:p.Val85Ile, XP_006717123.1:p.Val88Ile, XP_011516853.1:p.Val85Ile, XP_024303287.1:p.Val88Ile, XP_011516851.1:p.Val88Ile, XP_011516852.1:p.Val88Ile, XP_047279190.1:p.Val88Ile

Select item 146772755213.

rs1467727552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:128515543 (GRCh38)
9:131277822 (GRCh37)
Canonical SPDI:: NC_000009.12:128515542:C:G
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.128515543C>G, NC_000009.11:g.131277822C>G, NG_012073.1:g.15852C>G, NM_001003722.2:c.336C>G, NM_001003722.1:c.336C>G, NM_001499.2:c.336C>G, NM_001411013.1:c.336C>G, XM_006717060.4:c.345C>G, XM_006717060.3:c.345C>G, XM_006717060.2:c.345C>G, XM_006717060.1:c.345C>G, XM_011518551.3:c.336C>G, XM_024447519.2:c.345C>G, XM_024447519.1:c.345C>G, XM_011518549.2:c.345C>G, XM_011518549.1:c.345C>G, XM_011518550.2:c.345C>G, XM_011518550.1:c.345C>G, XM_047423234.1:c.345C>G

Select item 146753045814.

rs1467530458 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:128508951 (GRCh38)
9:131271230 (GRCh37)
Canonical SPDI:: NC_000009.12:128508950:C:G
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128508951C>G, NC_000009.11:g.131271230C>G, NG_012073.1:g.9260C>G, NM_001003722.2:c.175C>G, NM_001003722.1:c.175C>G, NM_001499.2:c.175C>G, NM_001411013.1:c.175C>G, XM_006717060.4:c.184C>G, XM_006717060.3:c.184C>G, XM_006717060.2:c.184C>G, XM_006717060.1:c.184C>G, XM_011518551.3:c.175C>G, XM_024447519.2:c.184C>G, XM_024447519.1:c.184C>G, XM_011518549.2:c.184C>G, XM_011518549.1:c.184C>G, XM_011518550.2:c.184C>G, XM_011518550.1:c.184C>G, XM_047423234.1:c.184C>G, NP_001003722.1:p.His59Asp, NP_001490.1:p.His59Asp, XP_006717123.1:p.His62Asp, XP_011516853.1:p.His59Asp, XP_024303287.1:p.His62Asp, XP_011516851.1:p.His62Asp, XP_011516852.1:p.His62Asp, XP_047279190.1:p.His62Asp

Select item 146331918015.

rs1463319180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128525342 (GRCh38)
9:131287621 (GRCh37)
Canonical SPDI:: NC_000009.12:128525341:G:A
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128525342G>A, NC_000009.11:g.131287621G>A, NG_012073.1:g.25651G>A, NM_001003722.2:c.1048G>A, NM_001003722.1:c.1048G>A, NM_001499.2:c.1048G>A, NM_001411013.1:c.1048G>A, XM_006717060.4:c.1057G>A, XM_006717060.3:c.1057G>A, XM_006717060.2:c.1057G>A, XM_006717060.1:c.1057G>A, XM_011518551.3:c.1048G>A, XM_024447519.2:c.1057G>A, XM_024447519.1:c.1057G>A, XM_011518549.2:c.1057G>A, XM_011518549.1:c.1057G>A, XM_011518550.2:c.1057G>A, XM_011518550.1:c.1057G>A, XM_047423234.1:c.1057G>A, XM_047423235.1:c.298G>A, XM_047423236.1:c.298G>A, NP_001003722.1:p.Glu350Lys, NP_001490.1:p.Glu350Lys, XP_006717123.1:p.Glu353Lys, XP_011516853.1:p.Glu350Lys, XP_024303287.1:p.Glu353Lys, XP_011516851.1:p.Glu353Lys, XP_011516852.1:p.Glu353Lys, XP_047279190.1:p.Glu353Lys, XP_047279191.1:p.Glu100Lys, XP_047279192.1:p.Glu100Lys

Select item 146327873716.

rs1463278737 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 9:128527282 (GRCh38)
9:131289561 (GRCh37)
Canonical SPDI:: NC_000009.12:128527281:G:A,NC_000009.12:128527281:G:C,NC_000009.12:128527281:G:T
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128527282G>A, NC_000009.12:g.128527282G>C, NC_000009.12:g.128527282G>T, NC_000009.11:g.131289561G>A, NC_000009.11:g.131289561G>C, NC_000009.11:g.131289561G>T, NG_012073.1:g.27591G>A, NG_012073.1:g.27591G>C, NG_012073.1:g.27591G>T, NM_001003722.2:c.1233G>A, NM_001003722.2:c.1233G>C, NM_001003722.2:c.1233G>T, NM_001003722.1:c.1233G>A, NM_001003722.1:c.1233G>C, NM_001003722.1:c.1233G>T, NM_001499.2:c.1233G>A, NM_001499.2:c.1233G>C, NM_001499.2:c.1233G>T, NM_001411013.1:c.1233G>A, NM_001411013.1:c.1233G>C, NM_001411013.1:c.1233G>T, XM_006717060.4:c.1242G>A, XM_006717060.4:c.1242G>C, XM_006717060.4:c.1242G>T, XM_006717060.3:c.1242G>A, XM_006717060.3:c.1242G>C, XM_006717060.3:c.1242G>T, XM_006717060.2:c.1242G>A, XM_006717060.2:c.1242G>C, XM_006717060.2:c.1242G>T, XM_006717060.1:c.1242G>A, XM_006717060.1:c.1242G>C, XM_006717060.1:c.1242G>T, XM_011518551.3:c.1233G>A, XM_011518551.3:c.1233G>C, XM_011518551.3:c.1233G>T, XM_024447519.2:c.1242G>A, XM_024447519.2:c.1242G>C, XM_024447519.2:c.1242G>T, XM_024447519.1:c.1242G>A, XM_024447519.1:c.1242G>C, XM_024447519.1:c.1242G>T, XM_011518549.2:c.1242G>A, XM_011518549.2:c.1242G>C, XM_011518549.2:c.1242G>T, XM_011518549.1:c.1242G>A, XM_011518549.1:c.1242G>C, XM_011518549.1:c.1242G>T, XM_011518550.2:c.1242G>A, XM_011518550.2:c.1242G>C, XM_011518550.2:c.1242G>T, XM_011518550.1:c.1242G>A, XM_011518550.1:c.1242G>C, XM_011518550.1:c.1242G>T, XM_047423234.1:c.1242G>A, XM_047423234.1:c.1242G>C, XM_047423234.1:c.1242G>T, XM_047423235.1:c.483G>A, XM_047423235.1:c.483G>C, XM_047423235.1:c.483G>T, XM_047423236.1:c.483G>A, XM_047423236.1:c.483G>C, XM_047423236.1:c.483G>T, NP_001003722.1:p.Lys411Asn, NP_001003722.1:p.Lys411Asn, NP_001490.1:p.Lys411Asn, NP_001490.1:p.Lys411Asn, XP_006717123.1:p.Lys414Asn, XP_006717123.1:p.Lys414Asn, XP_011516853.1:p.Lys411Asn, XP_011516853.1:p.Lys411Asn, XP_024303287.1:p.Lys414Asn, XP_024303287.1:p.Lys414Asn, XP_011516851.1:p.Lys414Asn, XP_011516851.1:p.Lys414Asn, XP_011516852.1:p.Lys414Asn, XP_011516852.1:p.Lys414Asn, XP_047279190.1:p.Lys414Asn, XP_047279190.1:p.Lys414Asn, XP_047279191.1:p.Lys161Asn, XP_047279191.1:p.Lys161Asn, XP_047279192.1:p.Lys161Asn, XP_047279192.1:p.Lys161Asn

Select item 146065852117.

rs1460658521 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:128504849 (GRCh38)
9:131267128 (GRCh37)
Canonical SPDI:: NC_000009.12:128504848:G:A
Gene:: GLE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_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_000009.12:g.128504849G>A, NC_000009.11:g.131267128G>A, NG_012073.1:g.5158G>A, NM_001003722.2:c.44G>A, NM_001003722.1:c.44G>A, NM_001499.2:c.44G>A, NM_001411013.1:c.44G>A, XM_006717060.4:c.-73G>A, XM_006717060.3:c.-73G>A, XM_006717060.2:c.-73G>A, XM_011518551.3:c.44G>A, XM_024447519.2:c.-203G>A, NP_001003722.1:p.Arg15His, NP_001490.1:p.Arg15His, XP_011516853.1:p.Arg15His

Select item 145872101018.

rs1458721010 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:128523665 (GRCh38)
9:131285944 (GRCh37)
Canonical SPDI:: NC_000009.12:128523664:A:C
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.128523665A>C, NC_000009.11:g.131285944A>C, NG_012073.1:g.23974A>C, NM_001003722.2:c.716A>C, NM_001003722.1:c.716A>C, NM_001499.2:c.716A>C, NM_001411013.1:c.716A>C, XM_006717060.4:c.725A>C, XM_006717060.3:c.725A>C, XM_006717060.2:c.725A>C, XM_006717060.1:c.725A>C, XM_011518551.3:c.716A>C, XM_024447519.2:c.725A>C, XM_024447519.1:c.725A>C, XM_011518549.2:c.725A>C, XM_011518549.1:c.725A>C, XM_011518550.2:c.725A>C, XM_011518550.1:c.725A>C, XM_047423234.1:c.725A>C, XM_047423235.1:c.-30A>C, XM_047423236.1:c.-30A>C, NP_001003722.1:p.Glu239Ala, NP_001490.1:p.Glu239Ala, XP_006717123.1:p.Glu242Ala, XP_011516853.1:p.Glu239Ala, XP_024303287.1:p.Glu242Ala, XP_011516851.1:p.Glu242Ala, XP_011516852.1:p.Glu242Ala, XP_047279190.1:p.Glu242Ala

Select item 145708531119.

rs1457085311 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:128523752 (GRCh38)
9:131286031 (GRCh37)
Canonical SPDI:: NC_000009.12:128523751:A:C
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.128523752A>C, NC_000009.11:g.131286031A>C, NG_012073.1:g.24061A>C, NM_001003722.2:c.803A>C, NM_001003722.1:c.803A>C, NM_001499.2:c.803A>C, NM_001411013.1:c.803A>C, XM_006717060.4:c.812A>C, XM_006717060.3:c.812A>C, XM_006717060.2:c.812A>C, XM_006717060.1:c.812A>C, XM_011518551.3:c.803A>C, XM_024447519.2:c.812A>C, XM_024447519.1:c.812A>C, XM_011518549.2:c.812A>C, XM_011518549.1:c.812A>C, XM_011518550.2:c.812A>C, XM_011518550.1:c.812A>C, XM_047423234.1:c.812A>C, XM_047423235.1:c.58A>C, XM_047423236.1:c.58A>C, NP_001003722.1:p.His268Pro, NP_001490.1:p.His268Pro, XP_006717123.1:p.His271Pro, XP_011516853.1:p.His268Pro, XP_024303287.1:p.His271Pro, XP_011516851.1:p.His271Pro, XP_011516852.1:p.His271Pro, XP_047279190.1:p.His271Pro, XP_047279191.1:p.Thr20Pro, XP_047279192.1:p.Thr20Pro

Select item 145613754420.

rs1456137544 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:128523670 (GRCh38)
9:131285949 (GRCh37)
Canonical SPDI:: NC_000009.12:128523669:G:C
Gene:: GLE1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.128523670G>C, NC_000009.11:g.131285949G>C, NG_012073.1:g.23979G>C, NM_001003722.2:c.721G>C, NM_001003722.1:c.721G>C, NM_001499.2:c.721G>C, NM_001411013.1:c.721G>C, XM_006717060.4:c.730G>C, XM_006717060.3:c.730G>C, XM_006717060.2:c.730G>C, XM_006717060.1:c.730G>C, XM_011518551.3:c.721G>C, XM_024447519.2:c.730G>C, XM_024447519.1:c.730G>C, XM_011518549.2:c.730G>C, XM_011518549.1:c.730G>C, XM_011518550.2:c.730G>C, XM_011518550.1:c.730G>C, XM_047423234.1:c.730G>C, XM_047423235.1:c.-25G>C, XM_047423236.1:c.-25G>C, NP_001003722.1:p.Gly241Arg, NP_001490.1:p.Gly241Arg, XP_006717123.1:p.Gly244Arg, XP_011516853.1:p.Gly241Arg, XP_024303287.1:p.Gly244Arg, XP_011516851.1:p.Gly244Arg, XP_011516852.1:p.Gly244Arg, XP_047279190.1:p.Gly244Arg

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