SNP Links for Protein (Select 109689711) - SNP

Links from Protein

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Select item 14895348841.

rs1489534884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39904845 (GRCh38)
17:38061098 (GRCh37)
Canonical SPDI:: NC_000017.11:39904844:C:T
Gene:: GSDMB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39904845C>T, NC_000017.10:g.38061098C>T, NG_015804.1:g.18806G>A, NM_018530.3:c.1152G>A, NM_018530.2:c.1152G>A, NM_001369402.2:c.1179G>A, NM_001369402.1:c.1179G>A, NM_001165958.2:c.1218G>A, NM_001165958.1:c.1218G>A, NM_001165959.2:c.1191G>A, NM_001165959.1:c.1191G>A, NM_001042471.2:c.1179G>A, NM_001042471.1:c.1179G>A, NM_001388420.1:c.1218G>A, NR_170973.1:n.2524G>A, NM_001388421.1:c.1191G>A, NR_170971.1:n.2413G>A, NR_170974.1:n.2386G>A, NR_170972.1:n.2329G>A, NM_001388424.1:c.906G>A, NR_170970.1:n.1312G>A, NM_001388422.1:c.1179G>A, NM_001388423.1:c.1152G>A

Select item 14856372762.

rs1485637276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39905985 (GRCh38)
17:38062238 (GRCh37)
Canonical SPDI:: NC_000017.11:39905984:C:T
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39905985C>T, NC_000017.10:g.38062238C>T, NG_015804.1:g.17666G>A, NM_018530.3:c.823G>A, NM_018530.2:c.823G>A, NM_001369402.2:c.850G>A, NM_001369402.1:c.850G>A, NM_001165958.2:c.889G>A, NM_001165958.1:c.889G>A, NM_001165959.2:c.862G>A, NM_001165959.1:c.862G>A, NM_001042471.2:c.850G>A, NM_001042471.1:c.850G>A, NM_001388420.1:c.889G>A, NR_170973.1:n.2195G>A, NM_001388421.1:c.862G>A, NR_170971.1:n.2084G>A, NR_170974.1:n.2057G>A, NR_170972.1:n.2000G>A, NM_001388424.1:c.577G>A, NR_170970.1:n.983G>A, NM_001388422.1:c.850G>A, NM_001388423.1:c.823G>A, NP_061000.2:p.Val275Ile, NP_001356331.1:p.Val284Ile, NP_001159430.1:p.Val297Ile, NP_001159431.1:p.Val288Ile, NP_001035936.1:p.Val284Ile, NP_001375349.1:p.Val297Ile, NP_001375350.1:p.Val288Ile, NP_001375353.1:p.Val193Ile, NP_001375351.1:p.Val284Ile, NP_001375352.1:p.Val275Ile

Select item 14853400603.

rs1485340060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:39905444 (GRCh38)
17:38061697 (GRCh37)
Canonical SPDI:: NC_000017.11:39905443:A:T
Gene:: GSDMB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39905444A>T, NC_000017.10:g.38061697A>T, NG_015804.1:g.18207T>A, NM_018530.3:c.1014T>A, NM_018530.2:c.1014T>A, NM_001369402.2:c.1041T>A, NM_001369402.1:c.1041T>A, NM_001165958.2:c.1080T>A, NM_001165958.1:c.1080T>A, NM_001165959.2:c.1053T>A, NM_001165959.1:c.1053T>A, NM_001042471.2:c.1041T>A, NM_001042471.1:c.1041T>A, NM_001388420.1:c.1080T>A, NR_170973.1:n.2386T>A, NM_001388421.1:c.1053T>A, NR_170971.1:n.2275T>A, NR_170974.1:n.2248T>A, NR_170972.1:n.2191T>A, NM_001388424.1:c.768T>A, NR_170970.1:n.1174T>A, NM_001388422.1:c.1041T>A, NM_001388423.1:c.1014T>A

Select item 14820779024.

rs1482077902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39908984 (GRCh38)
17:38065237 (GRCh37)
Canonical SPDI:: NC_000017.11:39908983:A:G
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.39908984A>G, NC_000017.10:g.38065237A>G, NG_015804.1:g.14667T>C, NM_018530.3:c.635T>C, NM_018530.2:c.635T>C, NM_001369402.2:c.635T>C, NM_001369402.1:c.635T>C, NM_001165958.2:c.635T>C, NM_001165958.1:c.635T>C, NM_001165959.2:c.635T>C, NM_001165959.1:c.635T>C, NM_001042471.2:c.635T>C, NM_001042471.1:c.635T>C, NM_001388420.1:c.635T>C, NR_170973.1:n.1954T>C, NM_001388421.1:c.635T>C, NR_170970.1:n.742T>C, NM_001388422.1:c.635T>C, NM_001388423.1:c.635T>C, NP_061000.2:p.Leu212Pro, NP_001356331.1:p.Leu212Pro, NP_001159430.1:p.Leu212Pro, NP_001159431.1:p.Leu212Pro, NP_001035936.1:p.Leu212Pro, NP_001375349.1:p.Leu212Pro, NP_001375350.1:p.Leu212Pro, NP_001375351.1:p.Leu212Pro, NP_001375352.1:p.Leu212Pro

Select item 14774162605.

rs1477416260 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:39917260 (GRCh38)
17:38073513 (GRCh37)
Canonical SPDI:: NC_000017.11:39917259:T:A
Gene:: GSDMB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39917260T>A, NC_000017.10:g.38073513T>A, NG_015804.1:g.6391A>T, NM_018530.3:c.57A>T, NM_018530.2:c.57A>T, NM_001369402.2:c.57A>T, NM_001369402.1:c.57A>T, NM_001165958.2:c.57A>T, NM_001165958.1:c.57A>T, NM_001165959.2:c.57A>T, NM_001165959.1:c.57A>T, NM_001042471.2:c.57A>T, NM_001042471.1:c.57A>T, NM_001388420.1:c.57A>T, NR_170973.1:n.1376A>T, NM_001388421.1:c.57A>T, NR_170971.1:n.1376A>T, NR_170974.1:n.1376A>T, NR_170972.1:n.1376A>T, NM_001388424.1:c.57A>T, NR_170970.1:n.164A>T, NM_001388422.1:c.57A>T, NM_001388423.1:c.57A>T, NG_055539.1:g.1167T>A

Select item 14770743566.

rs1477074356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39909781 (GRCh38)
17:38066034 (GRCh37)
Canonical SPDI:: NC_000017.11:39909780:T:C
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.39909781T>C, NC_000017.10:g.38066034T>C, NG_015804.1:g.13870A>G, NM_018530.3:c.551A>G, NM_018530.2:c.551A>G, NM_001369402.2:c.551A>G, NM_001369402.1:c.551A>G, NM_001165958.2:c.551A>G, NM_001165958.1:c.551A>G, NM_001165959.2:c.551A>G, NM_001165959.1:c.551A>G, NM_001042471.2:c.551A>G, NM_001042471.1:c.551A>G, NM_001388420.1:c.551A>G, NR_170973.1:n.1870A>G, NM_001388421.1:c.551A>G, NR_170971.1:n.1870A>G, NR_170974.1:n.1870A>G, NM_001388424.1:c.551A>G, NR_170970.1:n.658A>G, NM_001388422.1:c.551A>G, NM_001388423.1:c.551A>G, NP_061000.2:p.Gln184Arg, NP_001356331.1:p.Gln184Arg, NP_001159430.1:p.Gln184Arg, NP_001159431.1:p.Gln184Arg, NP_001035936.1:p.Gln184Arg, NP_001375349.1:p.Gln184Arg, NP_001375350.1:p.Gln184Arg, NP_001375353.1:p.Gln184Arg, NP_001375351.1:p.Gln184Arg, NP_001375352.1:p.Gln184Arg

Select item 14762806377.

rs1476280637 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39917193 (GRCh38)
17:38073446 (GRCh37)
Canonical SPDI:: NC_000017.11:39917192:C:T
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.39917193C>T, NC_000017.10:g.38073446C>T, NG_015804.1:g.6458G>A, NM_018530.3:c.124G>A, NM_018530.2:c.124G>A, NM_001369402.2:c.124G>A, NM_001369402.1:c.124G>A, NM_001165958.2:c.124G>A, NM_001165958.1:c.124G>A, NM_001165959.2:c.124G>A, NM_001165959.1:c.124G>A, NM_001042471.2:c.124G>A, NM_001042471.1:c.124G>A, NM_001388420.1:c.124G>A, NR_170973.1:n.1443G>A, NM_001388421.1:c.124G>A, NR_170971.1:n.1443G>A, NR_170974.1:n.1443G>A, NR_170972.1:n.1443G>A, NM_001388424.1:c.124G>A, NR_170970.1:n.231G>A, NM_001388422.1:c.124G>A, NM_001388423.1:c.124G>A, NG_055539.1:g.1100C>T, NP_061000.2:p.Glu42Lys, NP_001356331.1:p.Glu42Lys, NP_001159430.1:p.Glu42Lys, NP_001159431.1:p.Glu42Lys, NP_001035936.1:p.Glu42Lys, NP_001375349.1:p.Glu42Lys, NP_001375350.1:p.Glu42Lys, NP_001375353.1:p.Glu42Lys, NP_001375351.1:p.Glu42Lys, NP_001375352.1:p.Glu42Lys

Select item 14678309248.

rs1467830924 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:39906178 (GRCh38)
17:38062431 (GRCh37)
Canonical SPDI:: NC_000017.11:39906177:T:A
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39906178T>A, NC_000017.10:g.38062431T>A, NG_015804.1:g.17473A>T, NM_018530.3:c.755A>T, NM_018530.2:c.755A>T, NM_001369402.2:c.782A>T, NM_001369402.1:c.782A>T, NM_001165958.2:c.821A>T, NM_001165958.1:c.821A>T, NM_001165959.2:c.794A>T, NM_001165959.1:c.794A>T, NM_001042471.2:c.782A>T, NM_001042471.1:c.782A>T, NM_001388420.1:c.821A>T, NR_170973.1:n.2127A>T, NM_001388421.1:c.794A>T, NR_170971.1:n.2016A>T, NR_170974.1:n.1989A>T, NR_170972.1:n.1932A>T, NR_170970.1:n.915A>T, NM_001388422.1:c.782A>T, NM_001388423.1:c.755A>T, NP_061000.2:p.Lys252Ile, NP_001356331.1:p.Lys261Ile, NP_001159430.1:p.Lys274Ile, NP_001159431.1:p.Lys265Ile, NP_001035936.1:p.Lys261Ile, NP_001375349.1:p.Lys274Ile, NP_001375350.1:p.Lys265Ile, NP_001375351.1:p.Lys261Ile, NP_001375352.1:p.Lys252Ile

Select item 14669286609.

rs1466928660 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:39905856 (GRCh38)
17:38062109 (GRCh37)
Canonical SPDI:: NC_000017.11:39905855:C:A
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.39905856C>A, NC_000017.10:g.38062109C>A, NG_015804.1:g.17795G>T, NM_018530.3:c.952G>T, NM_018530.2:c.952G>T, NM_001369402.2:c.979G>T, NM_001369402.1:c.979G>T, NM_001165958.2:c.1018G>T, NM_001165958.1:c.1018G>T, NM_001165959.2:c.991G>T, NM_001165959.1:c.991G>T, NM_001042471.2:c.979G>T, NM_001042471.1:c.979G>T, NM_001388420.1:c.1018G>T, NR_170973.1:n.2324G>T, NM_001388421.1:c.991G>T, NR_170971.1:n.2213G>T, NR_170974.1:n.2186G>T, NR_170972.1:n.2129G>T, NM_001388424.1:c.706G>T, NR_170970.1:n.1112G>T, NM_001388422.1:c.979G>T, NM_001388423.1:c.952G>T, NP_061000.2:p.Ala318Ser, NP_001356331.1:p.Ala327Ser, NP_001159430.1:p.Ala340Ser, NP_001159431.1:p.Ala331Ser, NP_001035936.1:p.Ala327Ser, NP_001375349.1:p.Ala340Ser, NP_001375350.1:p.Ala331Ser, NP_001375353.1:p.Ala236Ser, NP_001375351.1:p.Ala327Ser, NP_001375352.1:p.Ala318Ser

Select item 146539685810.

rs1465396858 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:39904958 (GRCh38)
17:38061211 (GRCh37)
Canonical SPDI:: NC_000017.11:39904957:A:C,NC_000017.11:39904957:A:G
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000017.11:g.39904958A>C, NC_000017.11:g.39904958A>G, NC_000017.10:g.38061211A>C, NC_000017.10:g.38061211A>G, NG_015804.1:g.18693T>G, NG_015804.1:g.18693T>C, NM_018530.3:c.1039T>G, NM_018530.3:c.1039T>C, NM_018530.2:c.1039T>G, NM_018530.2:c.1039T>C, NM_001369402.2:c.1066T>G, NM_001369402.2:c.1066T>C, NM_001369402.1:c.1066T>G, NM_001369402.1:c.1066T>C, NM_001165958.2:c.1105T>G, NM_001165958.2:c.1105T>C, NM_001165958.1:c.1105T>G, NM_001165958.1:c.1105T>C, NM_001165959.2:c.1078T>G, NM_001165959.2:c.1078T>C, NM_001165959.1:c.1078T>G, NM_001165959.1:c.1078T>C, NM_001042471.2:c.1066T>G, NM_001042471.2:c.1066T>C, NM_001042471.1:c.1066T>G, NM_001042471.1:c.1066T>C, NM_001388420.1:c.1105T>G, NM_001388420.1:c.1105T>C, NR_170973.1:n.2411T>G, NR_170973.1:n.2411T>C, NM_001388421.1:c.1078T>G, NM_001388421.1:c.1078T>C, NR_170971.1:n.2300T>G, NR_170971.1:n.2300T>C, NR_170974.1:n.2273T>G, NR_170974.1:n.2273T>C, NR_170972.1:n.2216T>G, NR_170972.1:n.2216T>C, NM_001388424.1:c.793T>G, NM_001388424.1:c.793T>C, NR_170970.1:n.1199T>G, NR_170970.1:n.1199T>C, NM_001388422.1:c.1066T>G, NM_001388422.1:c.1066T>C, NM_001388423.1:c.1039T>G, NM_001388423.1:c.1039T>C, NP_061000.2:p.Ser347Ala, NP_061000.2:p.Ser347Pro, NP_001356331.1:p.Ser356Ala, NP_001356331.1:p.Ser356Pro, NP_001159430.1:p.Ser369Ala, NP_001159430.1:p.Ser369Pro, NP_001159431.1:p.Ser360Ala, NP_001159431.1:p.Ser360Pro, NP_001035936.1:p.Ser356Ala, NP_001035936.1:p.Ser356Pro, NP_001375349.1:p.Ser369Ala, NP_001375349.1:p.Ser369Pro, NP_001375350.1:p.Ser360Ala, NP_001375350.1:p.Ser360Pro, NP_001375353.1:p.Ser265Ala, NP_001375353.1:p.Ser265Pro, NP_001375351.1:p.Ser356Ala, NP_001375351.1:p.Ser356Pro, NP_001375352.1:p.Ser347Ala, NP_001375352.1:p.Ser347Pro

Select item 146332635311.

rs1463326353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39909841 (GRCh38)
17:38066094 (GRCh37)
Canonical SPDI:: NC_000017.11:39909840:G:A
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39909841G>A, NC_000017.10:g.38066094G>A, NG_015804.1:g.13810C>T, NM_018530.3:c.491C>T, NM_018530.2:c.491C>T, NM_001369402.2:c.491C>T, NM_001369402.1:c.491C>T, NM_001165958.2:c.491C>T, NM_001165958.1:c.491C>T, NM_001165959.2:c.491C>T, NM_001165959.1:c.491C>T, NM_001042471.2:c.491C>T, NM_001042471.1:c.491C>T, NM_001388420.1:c.491C>T, NR_170973.1:n.1810C>T, NM_001388421.1:c.491C>T, NR_170971.1:n.1810C>T, NR_170974.1:n.1810C>T, NR_170972.1:n.1810C>T, NM_001388424.1:c.491C>T, NR_170970.1:n.598C>T, NM_001388422.1:c.491C>T, NM_001388423.1:c.491C>T, NP_061000.2:p.Thr164Met, NP_001356331.1:p.Thr164Met, NP_001159430.1:p.Thr164Met, NP_001159431.1:p.Thr164Met, NP_001035936.1:p.Thr164Met, NP_001375349.1:p.Thr164Met, NP_001375350.1:p.Thr164Met, NP_001375353.1:p.Thr164Met, NP_001375351.1:p.Thr164Met, NP_001375352.1:p.Thr164Met

Select item 145800516612.

rs1458005166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39904912 (GRCh38)
17:38061165 (GRCh37)
Canonical SPDI:: NC_000017.11:39904911:T:C
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39904912T>C, NC_000017.10:g.38061165T>C, NG_015804.1:g.18739A>G, NM_018530.3:c.1085A>G, NM_018530.2:c.1085A>G, NM_001369402.2:c.1112A>G, NM_001369402.1:c.1112A>G, NM_001165958.2:c.1151A>G, NM_001165958.1:c.1151A>G, NM_001165959.2:c.1124A>G, NM_001165959.1:c.1124A>G, NM_001042471.2:c.1112A>G, NM_001042471.1:c.1112A>G, NM_001388420.1:c.1151A>G, NR_170973.1:n.2457A>G, NM_001388421.1:c.1124A>G, NR_170971.1:n.2346A>G, NR_170974.1:n.2319A>G, NR_170972.1:n.2262A>G, NM_001388424.1:c.839A>G, NR_170970.1:n.1245A>G, NM_001388422.1:c.1112A>G, NM_001388423.1:c.1085A>G, NP_061000.2:p.Asp362Gly, NP_001356331.1:p.Asp371Gly, NP_001159430.1:p.Asp384Gly, NP_001159431.1:p.Asp375Gly, NP_001035936.1:p.Asp371Gly, NP_001375349.1:p.Asp384Gly, NP_001375350.1:p.Asp375Gly, NP_001375353.1:p.Asp280Gly, NP_001375351.1:p.Asp371Gly, NP_001375352.1:p.Asp362Gly

Select item 145511878513.

rs1455118785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39912467 (GRCh38)
17:38068720 (GRCh37)
Canonical SPDI:: NC_000017.11:39912466:T:C
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.39912467T>C, NC_000017.10:g.38068720T>C, NG_015804.1:g.11184A>G, NM_018530.3:c.266A>G, NM_018530.2:c.266A>G, NM_001369402.2:c.266A>G, NM_001369402.1:c.266A>G, NM_001165958.2:c.266A>G, NM_001165958.1:c.266A>G, NM_001165959.2:c.266A>G, NM_001165959.1:c.266A>G, NM_001042471.2:c.266A>G, NM_001042471.1:c.266A>G, NM_001388420.1:c.266A>G, NR_170973.1:n.1585A>G, NM_001388421.1:c.266A>G, NR_170971.1:n.1585A>G, NR_170974.1:n.1585A>G, NR_170972.1:n.1585A>G, NM_001388424.1:c.266A>G, NR_170970.1:n.373A>G, NM_001388422.1:c.266A>G, NM_001388423.1:c.266A>G, NP_061000.2:p.Asn89Ser, NP_001356331.1:p.Asn89Ser, NP_001159430.1:p.Asn89Ser, NP_001159431.1:p.Asn89Ser, NP_001035936.1:p.Asn89Ser, NP_001375349.1:p.Asn89Ser, NP_001375350.1:p.Asn89Ser, NP_001375353.1:p.Asn89Ser, NP_001375351.1:p.Asn89Ser, NP_001375352.1:p.Asn89Ser

Select item 145377132414.

rs1453771324 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:39909856 (GRCh38)
17:38066109 (GRCh37)
Canonical SPDI:: NC_000017.11:39909855:G:A
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39909856G>A, NC_000017.10:g.38066109G>A, NG_015804.1:g.13795C>T, NM_018530.3:c.476C>T, NM_018530.2:c.476C>T, NM_001369402.2:c.476C>T, NM_001369402.1:c.476C>T, NM_001165958.2:c.476C>T, NM_001165958.1:c.476C>T, NM_001165959.2:c.476C>T, NM_001165959.1:c.476C>T, NM_001042471.2:c.476C>T, NM_001042471.1:c.476C>T, NM_001388420.1:c.476C>T, NR_170973.1:n.1795C>T, NM_001388421.1:c.476C>T, NR_170971.1:n.1795C>T, NR_170974.1:n.1795C>T, NR_170972.1:n.1795C>T, NM_001388424.1:c.476C>T, NR_170970.1:n.583C>T, NM_001388422.1:c.476C>T, NM_001388423.1:c.476C>T, NP_061000.2:p.Thr159Ile, NP_001356331.1:p.Thr159Ile, NP_001159430.1:p.Thr159Ile, NP_001159431.1:p.Thr159Ile, NP_001035936.1:p.Thr159Ile, NP_001375349.1:p.Thr159Ile, NP_001375350.1:p.Thr159Ile, NP_001375353.1:p.Thr159Ile, NP_001375351.1:p.Thr159Ile, NP_001375352.1:p.Thr159Ile

Select item 145105710815.

rs1451057108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39917278 (GRCh38)
17:38073531 (GRCh37)
Canonical SPDI:: NC_000017.11:39917277:A:G
Gene:: GSDMB (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_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_000017.11:g.39917278A>G, NC_000017.10:g.38073531A>G, NG_015804.1:g.6373T>C, NM_018530.3:c.39T>C, NM_018530.2:c.39T>C, NM_001369402.2:c.39T>C, NM_001369402.1:c.39T>C, NM_001165958.2:c.39T>C, NM_001165958.1:c.39T>C, NM_001165959.2:c.39T>C, NM_001165959.1:c.39T>C, NM_001042471.2:c.39T>C, NM_001042471.1:c.39T>C, NM_001388420.1:c.39T>C, NR_170973.1:n.1358T>C, NM_001388421.1:c.39T>C, NR_170971.1:n.1358T>C, NR_170974.1:n.1358T>C, NR_170972.1:n.1358T>C, NM_001388424.1:c.39T>C, NR_170970.1:n.146T>C, NM_001388422.1:c.39T>C, NM_001388423.1:c.39T>C, NG_055539.1:g.1185A>G

Select item 145009121316.

rs1450091213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:39904855 (GRCh38)
17:38061108 (GRCh37)
Canonical SPDI:: NC_000017.11:39904854:A:G
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39904855A>G, NC_000017.10:g.38061108A>G, NG_015804.1:g.18796T>C, NM_018530.3:c.1142T>C, NM_018530.2:c.1142T>C, NM_001369402.2:c.1169T>C, NM_001369402.1:c.1169T>C, NM_001165958.2:c.1208T>C, NM_001165958.1:c.1208T>C, NM_001165959.2:c.1181T>C, NM_001165959.1:c.1181T>C, NM_001042471.2:c.1169T>C, NM_001042471.1:c.1169T>C, NM_001388420.1:c.1208T>C, NR_170973.1:n.2514T>C, NM_001388421.1:c.1181T>C, NR_170971.1:n.2403T>C, NR_170974.1:n.2376T>C, NR_170972.1:n.2319T>C, NM_001388424.1:c.896T>C, NR_170970.1:n.1302T>C, NM_001388422.1:c.1169T>C, NM_001388423.1:c.1142T>C, NP_061000.2:p.Ile381Thr, NP_001356331.1:p.Ile390Thr, NP_001159430.1:p.Ile403Thr, NP_001159431.1:p.Ile394Thr, NP_001035936.1:p.Ile390Thr, NP_001375349.1:p.Ile403Thr, NP_001375350.1:p.Ile394Thr, NP_001375353.1:p.Ile299Thr, NP_001375351.1:p.Ile390Thr, NP_001375352.1:p.Ile381Thr

Select item 144924935417.

rs1449249354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:39917148 (GRCh38)
17:38073401 (GRCh37)
Canonical SPDI:: NC_000017.11:39917147:T:A,NC_000017.11:39917147:T:C
Gene:: GSDMB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39917148T>A, NC_000017.11:g.39917148T>C, NC_000017.10:g.38073401T>A, NC_000017.10:g.38073401T>C, NG_015804.1:g.6503A>T, NG_015804.1:g.6503A>G, NM_018530.3:c.169A>T, NM_018530.3:c.169A>G, NM_018530.2:c.169A>T, NM_018530.2:c.169A>G, NM_001369402.2:c.169A>T, NM_001369402.2:c.169A>G, NM_001369402.1:c.169A>T, NM_001369402.1:c.169A>G, NM_001165958.2:c.169A>T, NM_001165958.2:c.169A>G, NM_001165958.1:c.169A>T, NM_001165958.1:c.169A>G, NM_001165959.2:c.169A>T, NM_001165959.2:c.169A>G, NM_001165959.1:c.169A>T, NM_001165959.1:c.169A>G, NM_001042471.2:c.169A>T, NM_001042471.2:c.169A>G, NM_001042471.1:c.169A>T, NM_001042471.1:c.169A>G, NM_001388420.1:c.169A>T, NM_001388420.1:c.169A>G, NR_170973.1:n.1488A>T, NR_170973.1:n.1488A>G, NM_001388421.1:c.169A>T, NM_001388421.1:c.169A>G, NR_170971.1:n.1488A>T, NR_170971.1:n.1488A>G, NR_170974.1:n.1488A>T, NR_170974.1:n.1488A>G, NR_170972.1:n.1488A>T, NR_170972.1:n.1488A>G, NM_001388424.1:c.169A>T, NM_001388424.1:c.169A>G, NR_170970.1:n.276A>T, NR_170970.1:n.276A>G, NM_001388422.1:c.169A>T, NM_001388422.1:c.169A>G, NM_001388423.1:c.169A>T, NM_001388423.1:c.169A>G, NG_055539.1:g.1055T>A, NG_055539.1:g.1055T>C, NP_061000.2:p.Thr57Ser, NP_061000.2:p.Thr57Ala, NP_001356331.1:p.Thr57Ser, NP_001356331.1:p.Thr57Ala, NP_001159430.1:p.Thr57Ser, NP_001159430.1:p.Thr57Ala, NP_001159431.1:p.Thr57Ser, NP_001159431.1:p.Thr57Ala, NP_001035936.1:p.Thr57Ser, NP_001035936.1:p.Thr57Ala, NP_001375349.1:p.Thr57Ser, NP_001375349.1:p.Thr57Ala, NP_001375350.1:p.Thr57Ser, NP_001375350.1:p.Thr57Ala, NP_001375353.1:p.Thr57Ser, NP_001375353.1:p.Thr57Ala, NP_001375351.1:p.Thr57Ser, NP_001375351.1:p.Thr57Ala, NP_001375352.1:p.Thr57Ser, NP_001375352.1:p.Thr57Ala

Select item 144747956718.

rs1447479567 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:39906175 (GRCh38)
17:38062428 (GRCh37)
Canonical SPDI:: NC_000017.11:39906174:T:C
Gene:: GSDMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.39906175T>C, NC_000017.10:g.38062428T>C, NG_015804.1:g.17476A>G, NM_018530.3:c.758A>G, NM_018530.2:c.758A>G, NM_001369402.2:c.785A>G, NM_001369402.1:c.785A>G, NM_001165958.2:c.824A>G, NM_001165958.1:c.824A>G, NM_001165959.2:c.797A>G, NM_001165959.1:c.797A>G, NM_001042471.2:c.785A>G, NM_001042471.1:c.785A>G, NM_001388420.1:c.824A>G, NR_170973.1:n.2130A>G, NM_001388421.1:c.797A>G, NR_170971.1:n.2019A>G, NR_170974.1:n.1992A>G, NR_170972.1:n.1935A>G, NR_170970.1:n.918A>G, NM_001388422.1:c.785A>G, NM_001388423.1:c.758A>G, NP_061000.2:p.Asp253Gly, NP_001356331.1:p.Asp262Gly, NP_001159430.1:p.Asp275Gly, NP_001159431.1:p.Asp266Gly, NP_001035936.1:p.Asp262Gly, NP_001375349.1:p.Asp275Gly, NP_001375350.1:p.Asp266Gly, NP_001375351.1:p.Asp262Gly, NP_001375352.1:p.Asp253Gly

Select item 144706206919.

rs1447062069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:39917219 (GRCh38)
17:38073472 (GRCh37)
Canonical SPDI:: NC_000017.11:39917218:C:T
Gene:: GSDMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.39917219C>T, NC_000017.10:g.38073472C>T, NG_015804.1:g.6432G>A, NM_018530.3:c.98G>A, NM_018530.2:c.98G>A, NM_001369402.2:c.98G>A, NM_001369402.1:c.98G>A, NM_001165958.2:c.98G>A, NM_001165958.1:c.98G>A, NM_001165959.2:c.98G>A, NM_001165959.1:c.98G>A, NM_001042471.2:c.98G>A, NM_001042471.1:c.98G>A, NM_001388420.1:c.98G>A, NR_170973.1:n.1417G>A, NM_001388421.1:c.98G>A, NR_170971.1:n.1417G>A, NR_170974.1:n.1417G>A, NR_170972.1:n.1417G>A, NM_001388424.1:c.98G>A, NR_170970.1:n.205G>A, NM_001388422.1:c.98G>A, NM_001388423.1:c.98G>A, NG_055539.1:g.1126C>T, NP_061000.2:p.Arg33Lys, NP_001356331.1:p.Arg33Lys, NP_001159430.1:p.Arg33Lys, NP_001159431.1:p.Arg33Lys, NP_001035936.1:p.Arg33Lys, NP_001375349.1:p.Arg33Lys, NP_001375350.1:p.Arg33Lys, NP_001375353.1:p.Arg33Lys, NP_001375351.1:p.Arg33Lys, NP_001375352.1:p.Arg33Lys

Select item 144210388820.

rs1442103888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:39917184 (GRCh38)
17:38073437 (GRCh37)
Canonical SPDI:: NC_000017.11:39917183:T:G
Gene:: GSDMB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.39917184T>G, NC_000017.10:g.38073437T>G, NG_015804.1:g.6467A>C, NM_018530.3:c.133A>C, NM_018530.2:c.133A>C, NM_001369402.2:c.133A>C, NM_001369402.1:c.133A>C, NM_001165958.2:c.133A>C, NM_001165958.1:c.133A>C, NM_001165959.2:c.133A>C, NM_001165959.1:c.133A>C, NM_001042471.2:c.133A>C, NM_001042471.1:c.133A>C, NM_001388420.1:c.133A>C, NR_170973.1:n.1452A>C, NM_001388421.1:c.133A>C, NR_170971.1:n.1452A>C, NR_170974.1:n.1452A>C, NR_170972.1:n.1452A>C, NM_001388424.1:c.133A>C, NR_170970.1:n.240A>C, NM_001388422.1:c.133A>C, NM_001388423.1:c.133A>C, NG_055539.1:g.1091T>G, NP_061000.2:p.Thr45Pro, NP_001356331.1:p.Thr45Pro, NP_001159430.1:p.Thr45Pro, NP_001159431.1:p.Thr45Pro, NP_001035936.1:p.Thr45Pro, NP_001375349.1:p.Thr45Pro, NP_001375350.1:p.Thr45Pro, NP_001375353.1:p.Thr45Pro, NP_001375351.1:p.Thr45Pro, NP_001375352.1:p.Thr45Pro

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