SNP Links for Protein (Select 6274552) - SNP

Links from Protein

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Select item 14871820421.

rs1487182042 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190974871 (GRCh38)
2:191839597 (GRCh37)
Canonical SPDI:: NC_000002.12:190974870:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.190974871C>T, NC_000002.11:g.191839597C>T, NG_008294.1:g.44380G>A, NM_007315.4:c.2197G>A, NM_007315.3:c.2197G>A, NM_001384881.1:c.2203G>A, NM_001384891.1:c.2233G>A, NM_001384886.1:c.2221G>A, NM_001384882.1:c.2191G>A, NM_001384889.1:c.2185G>A, NM_001384888.1:c.2167G>A, NM_001384880.1:c.2137G>A, NM_001384890.1:c.2107G>A, NM_001384887.1:c.2104G>A, NM_001384883.1:c.2098G>A, NM_001384885.1:c.2038G>A, XM_006712718.2:c.2197G>A, XM_006712718.1:c.2197G>A, NP_009330.1:p.Glu733Lys, NP_001371810.1:p.Glu735Lys, NP_001371820.1:p.Glu745Lys, NP_001371815.1:p.Glu741Lys, NP_001371811.1:p.Glu731Lys, NP_001371818.1:p.Glu729Lys, NP_001371817.1:p.Glu723Lys, NP_001371809.1:p.Glu713Lys, NP_001371819.1:p.Glu703Lys, NP_001371816.1:p.Glu702Lys, NP_001371812.1:p.Glu700Lys, NP_001371814.1:p.Glu680Lys, XP_006712781.1:p.Glu733Lys

Select item 14862758752.

rs1486275875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190997938 (GRCh38)
2:191862664 (GRCh37)
Canonical SPDI:: NC_000002.12:190997937:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190997938C>T, NC_000002.11:g.191862664C>T, NG_008294.1:g.21313G>A, NM_007315.4:c.703G>A, NM_007315.3:c.703G>A, NM_139266.3:c.703G>A, NM_139266.2:c.703G>A, NM_001384881.1:c.709G>A, NM_001384891.1:c.739G>A, NM_001384886.1:c.703G>A, NM_001384882.1:c.703G>A, NM_001384889.1:c.703G>A, NM_001384888.1:c.703G>A, NM_001384880.1:c.703G>A, NM_001384890.1:c.613G>A, NM_001384887.1:c.703G>A, NM_001384883.1:c.604G>A, NM_001384885.1:c.703G>A, NM_001384884.1:c.709G>A, XM_006712718.2:c.703G>A, XM_006712718.1:c.703G>A, NP_009330.1:p.Glu235Lys, NP_644671.1:p.Glu235Lys, NP_001371810.1:p.Glu237Lys, NP_001371820.1:p.Glu247Lys, NP_001371815.1:p.Glu235Lys, NP_001371811.1:p.Glu235Lys, NP_001371818.1:p.Glu235Lys, NP_001371817.1:p.Glu235Lys, NP_001371809.1:p.Glu235Lys, NP_001371819.1:p.Glu205Lys, NP_001371816.1:p.Glu235Lys, NP_001371812.1:p.Glu202Lys, NP_001371814.1:p.Glu235Lys, NP_001371813.1:p.Glu237Lys, XP_006712781.1:p.Glu235Lys

Select item 14823744943.

rs1482374494 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:191007580 (GRCh38)
2:191872306 (GRCh37)
Canonical SPDI:: NC_000002.12:191007579:C:A,NC_000002.12:191007579:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000002.12:g.191007580C>A, NC_000002.12:g.191007580C>T, NC_000002.11:g.191872306C>A, NC_000002.11:g.191872306C>T, NG_008294.1:g.11671G>T, NG_008294.1:g.11671G>A, NM_007315.4:c.355G>T, NM_007315.4:c.355G>A, NM_007315.3:c.355G>T, NM_007315.3:c.355G>A, NM_139266.3:c.355G>T, NM_139266.3:c.355G>A, NM_139266.2:c.355G>T, NM_139266.2:c.355G>A, NM_001384881.1:c.361G>T, NM_001384881.1:c.361G>A, NM_001384891.1:c.391G>T, NM_001384891.1:c.391G>A, NM_001384886.1:c.355G>T, NM_001384886.1:c.355G>A, NM_001384882.1:c.355G>T, NM_001384882.1:c.355G>A, NM_001384889.1:c.355G>T, NM_001384889.1:c.355G>A, NM_001384888.1:c.355G>T, NM_001384888.1:c.355G>A, NM_001384880.1:c.355G>T, NM_001384880.1:c.355G>A, NM_001384890.1:c.355G>T, NM_001384890.1:c.355G>A, NM_001384887.1:c.355G>T, NM_001384887.1:c.355G>A, NM_001384883.1:c.355G>T, NM_001384883.1:c.355G>A, NM_001384885.1:c.355G>T, NM_001384885.1:c.355G>A, NM_001384884.1:c.361G>T, NM_001384884.1:c.361G>A, XM_006712718.2:c.355G>T, XM_006712718.2:c.355G>A, XM_006712718.1:c.355G>T, XM_006712718.1:c.355G>A, NP_009330.1:p.Ala119Ser, NP_009330.1:p.Ala119Thr, NP_644671.1:p.Ala119Ser, NP_644671.1:p.Ala119Thr, NP_001371810.1:p.Ala121Ser, NP_001371810.1:p.Ala121Thr, NP_001371820.1:p.Ala131Ser, NP_001371820.1:p.Ala131Thr, NP_001371815.1:p.Ala119Ser, NP_001371815.1:p.Ala119Thr, NP_001371811.1:p.Ala119Ser, NP_001371811.1:p.Ala119Thr, NP_001371818.1:p.Ala119Ser, NP_001371818.1:p.Ala119Thr, NP_001371817.1:p.Ala119Ser, NP_001371817.1:p.Ala119Thr, NP_001371809.1:p.Ala119Ser, NP_001371809.1:p.Ala119Thr, NP_001371819.1:p.Ala119Ser, NP_001371819.1:p.Ala119Thr, NP_001371816.1:p.Ala119Ser, NP_001371816.1:p.Ala119Thr, NP_001371812.1:p.Ala119Ser, NP_001371812.1:p.Ala119Thr, NP_001371814.1:p.Ala119Ser, NP_001371814.1:p.Ala119Thr, NP_001371813.1:p.Ala121Ser, NP_001371813.1:p.Ala121Thr, XP_006712781.1:p.Ala119Ser, XP_006712781.1:p.Ala119Thr

Select item 14814936604.

rs1481493660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:190995197 (GRCh38)
2:191859923 (GRCh37)
Canonical SPDI:: NC_000002.12:190995196:G:A,NC_000002.12:190995196:G:C
Gene:: STAT1 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190995197G>A, NC_000002.12:g.190995197G>C, NC_000002.11:g.191859923G>A, NC_000002.11:g.191859923G>C, NG_008294.1:g.24054C>T, NG_008294.1:g.24054C>G, NM_007315.4:c.808C>T, NM_007315.4:c.808C>G, NM_007315.3:c.808C>T, NM_007315.3:c.808C>G, NM_139266.3:c.808C>T, NM_139266.3:c.808C>G, NM_139266.2:c.808C>T, NM_139266.2:c.808C>G, NM_001384881.1:c.814C>T, NM_001384881.1:c.814C>G, NM_001384891.1:c.844C>T, NM_001384891.1:c.844C>G, NM_001384886.1:c.808C>T, NM_001384886.1:c.808C>G, NM_001384882.1:c.808C>T, NM_001384882.1:c.808C>G, NM_001384889.1:c.808C>T, NM_001384889.1:c.808C>G, NM_001384888.1:c.808C>T, NM_001384888.1:c.808C>G, NM_001384880.1:c.808C>T, NM_001384880.1:c.808C>G, NM_001384890.1:c.718C>T, NM_001384890.1:c.718C>G, NM_001384887.1:c.808C>T, NM_001384887.1:c.808C>G, NM_001384883.1:c.709C>T, NM_001384883.1:c.709C>G, NM_001384884.1:c.814C>T, NM_001384884.1:c.814C>G, XM_006712718.2:c.808C>T, XM_006712718.2:c.808C>G, XM_006712718.1:c.808C>T, XM_006712718.1:c.808C>G, NP_009330.1:p.Leu270Val, NP_644671.1:p.Leu270Val, NP_001371810.1:p.Leu272Val, NP_001371820.1:p.Leu282Val, NP_001371815.1:p.Leu270Val, NP_001371811.1:p.Leu270Val, NP_001371818.1:p.Leu270Val, NP_001371817.1:p.Leu270Val, NP_001371809.1:p.Leu270Val, NP_001371819.1:p.Leu240Val, NP_001371816.1:p.Leu270Val, NP_001371812.1:p.Leu237Val, NP_001371813.1:p.Leu272Val, XP_006712781.1:p.Leu270Val

Select item 14774604045.

rs1477460404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190984345 (GRCh38)
2:191849071 (GRCh37)
Canonical SPDI:: NC_000002.12:190984344:G:A
Gene:: STAT1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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_000002.12:g.190984345G>A, NC_000002.11:g.191849071G>A, NG_008294.1:g.34906C>T, NM_007315.4:c.1312C>T, NM_007315.3:c.1312C>T, NM_139266.3:c.1312C>T, NM_139266.2:c.1312C>T, NM_001384881.1:c.1318C>T, NM_001384891.1:c.1348C>T, NM_001384886.1:c.1312C>T, NM_001384882.1:c.1306C>T, NM_001384889.1:c.1312C>T, NM_001384888.1:c.1282C>T, NM_001384880.1:c.1252C>T, NM_001384890.1:c.1222C>T, NM_001384887.1:c.1219C>T, NM_001384883.1:c.1213C>T, NM_001384885.1:c.1153C>T, NM_001384884.1:c.1318C>T, XM_006712718.2:c.1312C>T, XM_006712718.1:c.1312C>T, NP_009330.1:p.Gln438Ter, NP_644671.1:p.Gln438Ter, NP_001371810.1:p.Gln440Ter, NP_001371820.1:p.Gln450Ter, NP_001371815.1:p.Gln438Ter, NP_001371811.1:p.Gln436Ter, NP_001371818.1:p.Gln438Ter, NP_001371817.1:p.Gln428Ter, NP_001371809.1:p.Gln418Ter, NP_001371819.1:p.Gln408Ter, NP_001371816.1:p.Gln407Ter, NP_001371812.1:p.Gln405Ter, NP_001371814.1:p.Gln385Ter, NP_001371813.1:p.Gln440Ter, XP_006712781.1:p.Gln438Ter

Select item 14763280986.

rs1476328098 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:191007564 (GRCh38)
2:191872290 (GRCh37)
Canonical SPDI:: NC_000002.12:191007563:T:C,NC_000002.12:191007563:T:G
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.191007564T>C, NC_000002.12:g.191007564T>G, NC_000002.11:g.191872290T>C, NC_000002.11:g.191872290T>G, NG_008294.1:g.11687A>G, NG_008294.1:g.11687A>C, NM_007315.4:c.371A>G, NM_007315.4:c.371A>C, NM_007315.3:c.371A>G, NM_007315.3:c.371A>C, NM_139266.3:c.371A>G, NM_139266.3:c.371A>C, NM_139266.2:c.371A>G, NM_139266.2:c.371A>C, NM_001384881.1:c.377A>G, NM_001384881.1:c.377A>C, NM_001384891.1:c.407A>G, NM_001384891.1:c.407A>C, NM_001384886.1:c.371A>G, NM_001384886.1:c.371A>C, NM_001384882.1:c.371A>G, NM_001384882.1:c.371A>C, NM_001384889.1:c.371A>G, NM_001384889.1:c.371A>C, NM_001384888.1:c.371A>G, NM_001384888.1:c.371A>C, NM_001384880.1:c.371A>G, NM_001384880.1:c.371A>C, NM_001384890.1:c.371A>G, NM_001384890.1:c.371A>C, NM_001384887.1:c.371A>G, NM_001384887.1:c.371A>C, NM_001384883.1:c.371A>G, NM_001384883.1:c.371A>C, NM_001384885.1:c.371A>G, NM_001384885.1:c.371A>C, NM_001384884.1:c.377A>G, NM_001384884.1:c.377A>C, XM_006712718.2:c.371A>G, XM_006712718.2:c.371A>C, XM_006712718.1:c.371A>G, XM_006712718.1:c.371A>C, NP_009330.1:p.Gln124Arg, NP_009330.1:p.Gln124Pro, NP_644671.1:p.Gln124Arg, NP_644671.1:p.Gln124Pro, NP_001371810.1:p.Gln126Arg, NP_001371810.1:p.Gln126Pro, NP_001371820.1:p.Gln136Arg, NP_001371820.1:p.Gln136Pro, NP_001371815.1:p.Gln124Arg, NP_001371815.1:p.Gln124Pro, NP_001371811.1:p.Gln124Arg, NP_001371811.1:p.Gln124Pro, NP_001371818.1:p.Gln124Arg, NP_001371818.1:p.Gln124Pro, NP_001371817.1:p.Gln124Arg, NP_001371817.1:p.Gln124Pro, NP_001371809.1:p.Gln124Arg, NP_001371809.1:p.Gln124Pro, NP_001371819.1:p.Gln124Arg, NP_001371819.1:p.Gln124Pro, NP_001371816.1:p.Gln124Arg, NP_001371816.1:p.Gln124Pro, NP_001371812.1:p.Gln124Arg, NP_001371812.1:p.Gln124Pro, NP_001371814.1:p.Gln124Arg, NP_001371814.1:p.Gln124Pro, NP_001371813.1:p.Gln126Arg, NP_001371813.1:p.Gln126Pro, XP_006712781.1:p.Gln124Arg, XP_006712781.1:p.Gln124Pro

Select item 14745677307.

rs1474567730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190976884 (GRCh38)
2:191841610 (GRCh37)
Canonical SPDI:: NC_000002.12:190976883:T:C
Gene:: STAT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190976884T>C, NC_000002.11:g.191841610T>C, NG_008294.1:g.42367A>G, NM_007315.4:c.2015A>G, NM_007315.3:c.2015A>G, NM_139266.3:c.2015A>G, NM_139266.2:c.2015A>G, NM_001384881.1:c.2021A>G, NM_001384891.1:c.2051A>G, NM_001384886.1:c.2015A>G, NM_001384882.1:c.2009A>G, NM_001384889.1:c.2015A>G, NM_001384888.1:c.1985A>G, NM_001384880.1:c.1955A>G, NM_001384890.1:c.1925A>G, NM_001384887.1:c.1922A>G, NM_001384883.1:c.1916A>G, NM_001384885.1:c.1856A>G, XM_006712718.2:c.2015A>G, XM_006712718.1:c.2015A>G, NP_009330.1:p.Asp672Gly, NP_644671.1:p.Asp672Gly, NP_001371810.1:p.Asp674Gly, NP_001371820.1:p.Asp684Gly, NP_001371815.1:p.Asp672Gly, NP_001371811.1:p.Asp670Gly, NP_001371818.1:p.Asp672Gly, NP_001371817.1:p.Asp662Gly, NP_001371809.1:p.Asp652Gly, NP_001371819.1:p.Asp642Gly, NP_001371816.1:p.Asp641Gly, NP_001371812.1:p.Asp639Gly, NP_001371814.1:p.Asp619Gly, XP_006712781.1:p.Asp672Gly

Select item 14734941208.

rs1473494120 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:191009069 (GRCh38)
2:191873795 (GRCh37)
Canonical SPDI:: NC_000002.12:191009068:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.191009069C>T, NC_000002.11:g.191873795C>T, NG_008294.1:g.10182G>A, NM_007315.4:c.167G>A, NM_007315.3:c.167G>A, NM_139266.3:c.167G>A, NM_139266.2:c.167G>A, NM_001384881.1:c.173G>A, NM_001384891.1:c.203G>A, NM_001384886.1:c.167G>A, NM_001384882.1:c.167G>A, NM_001384889.1:c.167G>A, NM_001384888.1:c.167G>A, NM_001384880.1:c.167G>A, NM_001384890.1:c.167G>A, NM_001384887.1:c.167G>A, NM_001384883.1:c.167G>A, NM_001384885.1:c.167G>A, NM_001384884.1:c.173G>A, XM_006712718.2:c.167G>A, XM_006712718.1:c.167G>A, NP_009330.1:p.Arg56His, NP_644671.1:p.Arg56His, NP_001371810.1:p.Arg58His, NP_001371820.1:p.Arg68His, NP_001371815.1:p.Arg56His, NP_001371811.1:p.Arg56His, NP_001371818.1:p.Arg56His, NP_001371817.1:p.Arg56His, NP_001371809.1:p.Arg56His, NP_001371819.1:p.Arg56His, NP_001371816.1:p.Arg56His, NP_001371812.1:p.Arg56His, NP_001371814.1:p.Arg56His, NP_001371813.1:p.Arg58His, XP_006712781.1:p.Arg56His

Select item 14727786559.

rs1472778655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:191001105 (GRCh38)
2:191865831 (GRCh37)
Canonical SPDI:: NC_000002.12:191001104:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.191001105C>T, NC_000002.11:g.191865831C>T, NG_008294.1:g.18146G>A, NM_007315.4:c.431G>A, NM_007315.3:c.431G>A, NM_139266.3:c.431G>A, NM_139266.2:c.431G>A, NM_001384881.1:c.437G>A, NM_001384891.1:c.467G>A, NM_001384886.1:c.431G>A, NM_001384882.1:c.431G>A, NM_001384889.1:c.431G>A, NM_001384888.1:c.431G>A, NM_001384880.1:c.431G>A, NM_001384887.1:c.431G>A, NM_001384883.1:c.431G>A, NM_001384885.1:c.431G>A, NM_001384884.1:c.437G>A, XM_006712718.2:c.431G>A, XM_006712718.1:c.431G>A, NP_009330.1:p.Ser144Asn, NP_644671.1:p.Ser144Asn, NP_001371810.1:p.Ser146Asn, NP_001371820.1:p.Ser156Asn, NP_001371815.1:p.Ser144Asn, NP_001371811.1:p.Ser144Asn, NP_001371818.1:p.Ser144Asn, NP_001371817.1:p.Ser144Asn, NP_001371809.1:p.Ser144Asn, NP_001371816.1:p.Ser144Asn, NP_001371812.1:p.Ser144Asn, NP_001371814.1:p.Ser144Asn, NP_001371813.1:p.Ser146Asn, XP_006712781.1:p.Ser144Asn

Select item 147107778110.

rs1471077781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:191007578 (GRCh38)
2:191872304 (GRCh37)
Canonical SPDI:: NC_000002.12:191007577:G:A
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.191007578G>A, NC_000002.11:g.191872304G>A, NG_008294.1:g.11673C>T, NM_007315.4:c.357C>T, NM_007315.3:c.357C>T, NM_139266.3:c.357C>T, NM_139266.2:c.357C>T, NM_001384881.1:c.363C>T, NM_001384891.1:c.393C>T, NM_001384886.1:c.357C>T, NM_001384882.1:c.357C>T, NM_001384889.1:c.357C>T, NM_001384888.1:c.357C>T, NM_001384880.1:c.357C>T, NM_001384890.1:c.357C>T, NM_001384887.1:c.357C>T, NM_001384883.1:c.357C>T, NM_001384885.1:c.357C>T, NM_001384884.1:c.363C>T, XM_006712718.2:c.357C>T, XM_006712718.1:c.357C>T

Select item 146810343811.

rs1468103438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190982486 (GRCh38)
2:191847212 (GRCh37)
Canonical SPDI:: NC_000002.12:190982485:T:C
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190982486T>C, NC_000002.11:g.191847212T>C, NG_008294.1:g.36765A>G, NM_007315.4:c.1479A>G, NM_007315.3:c.1479A>G, NM_139266.3:c.1479A>G, NM_139266.2:c.1479A>G, NM_001384881.1:c.1485A>G, NM_001384891.1:c.1515A>G, NM_001384886.1:c.1479A>G, NM_001384882.1:c.1473A>G, NM_001384889.1:c.1479A>G, NM_001384888.1:c.1449A>G, NM_001384880.1:c.1419A>G, NM_001384890.1:c.1389A>G, NM_001384887.1:c.1386A>G, NM_001384883.1:c.1380A>G, NM_001384885.1:c.1320A>G, NM_001384884.1:c.1485A>G, XM_006712718.2:c.1479A>G, XM_006712718.1:c.1479A>G

Select item 146230183712.

rs1462301837 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190984355 (GRCh38)
2:191849081 (GRCh37)
Canonical SPDI:: NC_000002.12:190984354:A:G
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190984355A>G, NC_000002.11:g.191849081A>G, NG_008294.1:g.34896T>C, NM_007315.4:c.1302T>C, NM_007315.3:c.1302T>C, NM_139266.3:c.1302T>C, NM_139266.2:c.1302T>C, NM_001384881.1:c.1308T>C, NM_001384891.1:c.1338T>C, NM_001384886.1:c.1302T>C, NM_001384882.1:c.1296T>C, NM_001384889.1:c.1302T>C, NM_001384888.1:c.1272T>C, NM_001384880.1:c.1242T>C, NM_001384890.1:c.1212T>C, NM_001384887.1:c.1209T>C, NM_001384883.1:c.1203T>C, NM_001384885.1:c.1143T>C, NM_001384884.1:c.1308T>C, XM_006712718.2:c.1302T>C, XM_006712718.1:c.1302T>C

Select item 146152504513.

rs1461525045 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 2:190979794 (GRCh38)
2:191844520 (GRCh37)
Canonical SPDI:: NC_000002.12:190979793:G:A,NC_000002.12:190979793:G:C
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_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_000002.12:g.190979794G>A, NC_000002.12:g.190979794G>C, NC_000002.11:g.191844520G>A, NC_000002.11:g.191844520G>C, NG_008294.1:g.39457C>T, NG_008294.1:g.39457C>G, NM_007315.4:c.1705C>T, NM_007315.4:c.1705C>G, NM_007315.3:c.1705C>T, NM_007315.3:c.1705C>G, NM_139266.3:c.1705C>T, NM_139266.3:c.1705C>G, NM_139266.2:c.1705C>T, NM_139266.2:c.1705C>G, NM_001384881.1:c.1711C>T, NM_001384881.1:c.1711C>G, NM_001384891.1:c.1741C>T, NM_001384891.1:c.1741C>G, NM_001384886.1:c.1705C>T, NM_001384886.1:c.1705C>G, NM_001384882.1:c.1699C>T, NM_001384882.1:c.1699C>G, NM_001384889.1:c.1705C>T, NM_001384889.1:c.1705C>G, NM_001384888.1:c.1675C>T, NM_001384888.1:c.1675C>G, NM_001384880.1:c.1645C>T, NM_001384880.1:c.1645C>G, NM_001384890.1:c.1615C>T, NM_001384890.1:c.1615C>G, NM_001384887.1:c.1612C>T, NM_001384887.1:c.1612C>G, NM_001384883.1:c.1606C>T, NM_001384883.1:c.1606C>G, NM_001384885.1:c.1546C>T, NM_001384885.1:c.1546C>G, NM_001384884.1:c.1711C>T, NM_001384884.1:c.1711C>G, XM_006712718.2:c.1705C>T, XM_006712718.2:c.1705C>G, XM_006712718.1:c.1705C>T, XM_006712718.1:c.1705C>G, NP_009330.1:p.Leu569Val, NP_644671.1:p.Leu569Val, NP_001371810.1:p.Leu571Val, NP_001371820.1:p.Leu581Val, NP_001371815.1:p.Leu569Val, NP_001371811.1:p.Leu567Val, NP_001371818.1:p.Leu569Val, NP_001371817.1:p.Leu559Val, NP_001371809.1:p.Leu549Val, NP_001371819.1:p.Leu539Val, NP_001371816.1:p.Leu538Val, NP_001371812.1:p.Leu536Val, NP_001371814.1:p.Leu516Val, NP_001371813.1:p.Leu571Val, XP_006712781.1:p.Leu569Val

Select item 145947647114.

rs1459476471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190995061 (GRCh38)
2:191859787 (GRCh37)
Canonical SPDI:: NC_000002.12:190995060:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190995061C>T, NC_000002.11:g.191859787C>T, NG_008294.1:g.24190G>A, NM_007315.4:c.944G>A, NM_007315.3:c.944G>A, NM_139266.3:c.944G>A, NM_139266.2:c.944G>A, NM_001384881.1:c.950G>A, NM_001384891.1:c.980G>A, NM_001384886.1:c.944G>A, NM_001384882.1:c.944G>A, NM_001384889.1:c.944G>A, NM_001384888.1:c.944G>A, NM_001384880.1:c.944G>A, NM_001384890.1:c.854G>A, NM_001384887.1:c.944G>A, NM_001384883.1:c.845G>A, NM_001384884.1:c.950G>A, XM_006712718.2:c.944G>A, XM_006712718.1:c.944G>A, NP_009330.1:p.Ser315Asn, NP_644671.1:p.Ser315Asn, NP_001371810.1:p.Ser317Asn, NP_001371820.1:p.Ser327Asn, NP_001371815.1:p.Ser315Asn, NP_001371811.1:p.Ser315Asn, NP_001371818.1:p.Ser315Asn, NP_001371817.1:p.Ser315Asn, NP_001371809.1:p.Ser315Asn, NP_001371819.1:p.Ser285Asn, NP_001371816.1:p.Arg315Lys, NP_001371812.1:p.Ser282Asn, NP_001371813.1:p.Ser317Asn, XP_006712781.1:p.Ser315Asn

Select item 145523193515.

rs1455231935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:190998007 (GRCh38)
2:191862733 (GRCh37)
Canonical SPDI:: NC_000002.12:190998006:C:G
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190998007C>G, NC_000002.11:g.191862733C>G, NG_008294.1:g.21244G>C, NM_007315.4:c.634G>C, NM_007315.3:c.634G>C, NM_139266.3:c.634G>C, NM_139266.2:c.634G>C, NM_001384881.1:c.640G>C, NM_001384891.1:c.670G>C, NM_001384886.1:c.634G>C, NM_001384882.1:c.634G>C, NM_001384889.1:c.634G>C, NM_001384888.1:c.634G>C, NM_001384880.1:c.634G>C, NM_001384890.1:c.544G>C, NM_001384887.1:c.634G>C, NM_001384883.1:c.535G>C, NM_001384885.1:c.634G>C, NM_001384884.1:c.640G>C, XM_006712718.2:c.634G>C, XM_006712718.1:c.634G>C, NP_009330.1:p.Glu212Gln, NP_644671.1:p.Glu212Gln, NP_001371810.1:p.Glu214Gln, NP_001371820.1:p.Glu224Gln, NP_001371815.1:p.Glu212Gln, NP_001371811.1:p.Glu212Gln, NP_001371818.1:p.Glu212Gln, NP_001371817.1:p.Glu212Gln, NP_001371809.1:p.Glu212Gln, NP_001371819.1:p.Glu182Gln, NP_001371816.1:p.Glu212Gln, NP_001371812.1:p.Glu179Gln, NP_001371814.1:p.Glu212Gln, NP_001371813.1:p.Glu214Gln, XP_006712781.1:p.Glu212Gln

Select item 145135377616.

rs1451353776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:190982515 (GRCh38)
2:191847241 (GRCh37)
Canonical SPDI:: NC_000002.12:190982514:G:T
Gene:: STAT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190982515G>T, NC_000002.11:g.191847241G>T, NG_008294.1:g.36736C>A, NM_007315.4:c.1450C>A, NM_007315.3:c.1450C>A, NM_139266.3:c.1450C>A, NM_139266.2:c.1450C>A, NM_001384881.1:c.1456C>A, NM_001384891.1:c.1486C>A, NM_001384886.1:c.1450C>A, NM_001384882.1:c.1444C>A, NM_001384889.1:c.1450C>A, NM_001384888.1:c.1420C>A, NM_001384880.1:c.1390C>A, NM_001384890.1:c.1360C>A, NM_001384887.1:c.1357C>A, NM_001384883.1:c.1351C>A, NM_001384885.1:c.1291C>A, NM_001384884.1:c.1456C>A, XM_006712718.2:c.1450C>A, XM_006712718.1:c.1450C>A, NP_009330.1:p.Leu484Met, NP_644671.1:p.Leu484Met, NP_001371810.1:p.Leu486Met, NP_001371820.1:p.Leu496Met, NP_001371815.1:p.Leu484Met, NP_001371811.1:p.Leu482Met, NP_001371818.1:p.Leu484Met, NP_001371817.1:p.Leu474Met, NP_001371809.1:p.Leu464Met, NP_001371819.1:p.Leu454Met, NP_001371816.1:p.Leu453Met, NP_001371812.1:p.Leu451Met, NP_001371814.1:p.Leu431Met, NP_001371813.1:p.Leu486Met, XP_006712781.1:p.Leu484Met

Select item 145112215317.

rs1451122153 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:191009935 (GRCh38)
2:191874661 (GRCh37)
Canonical SPDI:: NC_000002.12:191009934:A:G
Gene:: STAT1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.191009935A>G, NC_000002.11:g.191874661A>G, NG_008294.1:g.9316T>C, NM_007315.4:c.69T>C, NM_007315.3:c.69T>C, NM_139266.3:c.69T>C, NM_139266.2:c.69T>C, NM_001384881.1:c.75T>C, NM_001384891.1:c.69T>C, NM_001384886.1:c.69T>C, NM_001384882.1:c.69T>C, NM_001384889.1:c.69T>C, NM_001384888.1:c.69T>C, NM_001384880.1:c.69T>C, NM_001384890.1:c.69T>C, NM_001384887.1:c.69T>C, NM_001384883.1:c.69T>C, NM_001384885.1:c.69T>C, NM_001384884.1:c.75T>C, XM_006712718.2:c.69T>C, XM_006712718.1:c.69T>C

Select item 144271051218.

rs1442710512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:191008975 (GRCh38)
2:191873701 (GRCh37)
Canonical SPDI:: NC_000002.12:191008974:C:T
Gene:: STAT1 (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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.191008975C>T, NC_000002.11:g.191873701C>T, NG_008294.1:g.10276G>A, NM_007315.4:c.261G>A, NM_007315.3:c.261G>A, NM_139266.3:c.261G>A, NM_139266.2:c.261G>A, NM_001384881.1:c.267G>A, NM_001384891.1:c.297G>A, NM_001384886.1:c.261G>A, NM_001384882.1:c.261G>A, NM_001384889.1:c.261G>A, NM_001384888.1:c.261G>A, NM_001384880.1:c.261G>A, NM_001384890.1:c.261G>A, NM_001384887.1:c.261G>A, NM_001384883.1:c.261G>A, NM_001384885.1:c.261G>A, NM_001384884.1:c.267G>A, XM_006712718.2:c.261G>A, XM_006712718.1:c.261G>A

Select item 144158015519.

rs1441580155 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190975831 (GRCh38)
2:191840557 (GRCh37)
Canonical SPDI:: NC_000002.12:190975830:A:G
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190975831A>G, NC_000002.11:g.191840557A>G, NG_008294.1:g.43420T>C, NM_007315.4:c.2116T>C, NM_007315.3:c.2116T>C, NM_139266.3:c.2116T>C, NM_139266.2:c.2116T>C, NM_001384881.1:c.2122T>C, NM_001384891.1:c.2152T>C, NM_001384886.1:c.2140T>C, NM_001384882.1:c.2110T>C, NM_001384889.1:c.2116T>C, NM_001384888.1:c.2086T>C, NM_001384880.1:c.2056T>C, NM_001384890.1:c.2026T>C, NM_001384887.1:c.2023T>C, NM_001384883.1:c.2017T>C, NM_001384885.1:c.1957T>C, XM_006712718.2:c.2116T>C, XM_006712718.1:c.2116T>C

Select item 143598598720.

rs1435985987 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190976928 (GRCh38)
2:191841654 (GRCh37)
Canonical SPDI:: NC_000002.12:190976927:C:T
Gene:: STAT1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_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_000002.12:g.190976928C>T, NC_000002.11:g.191841654C>T, NG_008294.1:g.42323G>A, NM_007315.4:c.1971G>A, NM_007315.3:c.1971G>A, NM_139266.3:c.1971G>A, NM_139266.2:c.1971G>A, NM_001384881.1:c.1977G>A, NM_001384891.1:c.2007G>A, NM_001384886.1:c.1971G>A, NM_001384882.1:c.1965G>A, NM_001384889.1:c.1971G>A, NM_001384888.1:c.1941G>A, NM_001384880.1:c.1911G>A, NM_001384890.1:c.1881G>A, NM_001384887.1:c.1878G>A, NM_001384883.1:c.1872G>A, NM_001384885.1:c.1812G>A, XM_006712718.2:c.1971G>A, XM_006712718.1:c.1971G>A

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