SNP Links for Protein (Select 808688274) - SNP

Links from Protein

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Select item 14910430181.

rs1491043018 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTA [Show Flanks]
Chromosome:: 5:111501086 (GRCh38)
5:110836785 (GRCh37)
Canonical SPDI:: NC_000005.10:111501086::TGTA
Gene:: STARD4 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.111501086_111501087insTGTA, NC_000005.9:g.110836784_110836785insTGTA, NM_139164.3:c.312_313insTACA, NM_139164.2:c.312_313insTACA, NM_139164.1:c.312_313insTACA, XM_017009044.3:c.66_67insTACA, XM_017009044.2:c.66_67insTACA, XM_017009044.1:c.66_67insTACA, XM_017009043.3:c.18_19insTACA, XM_017009043.2:c.18_19insTACA, XM_017009043.1:c.18_19insTACA, NM_001308059.2:c.66_67insTACA, NM_001308059.1:c.66_67insTACA, NM_001308056.2:c.312_313insTACA, NM_001308056.1:c.312_313insTACA, NM_001308061.2:c.66_67insTACA, NM_001308061.1:c.66_67insTACA, NR_131754.2:n.339_340insTACA, NR_131754.1:n.401_402insTACA, NM_001308060.2:c.18_19insTACA, NM_001308060.1:c.18_19insTACA, NM_001308057.2:c.312_313insTACA, NM_001308057.1:c.312_313insTACA, NM_001308058.2:c.312_313insTACA, NM_001308058.1:c.312_313insTACA, NR_131752.2:n.358_359insTACA, NR_131752.1:n.420_421insTACA, NR_131753.2:n.345_346insTACA, NR_131753.1:n.407_408insTACA, XM_024454364.2:c.312_313insTACA, XM_024454364.1:c.312_313insTACA, XM_047416728.1:c.18_19insTACA, NP_631903.1:p.Gly105fs, XP_016864533.1:p.Gly23fs, XP_016864532.1:p.Gly7fs, NP_001294988.1:p.Gly23fs, NP_001294985.1:p.Gly105fs, NP_001294990.1:p.Gly23fs, NP_001294989.1:p.Gly7fs, NP_001294986.1:p.Gly105fs, NP_001294987.1:p.Gly105fs, XP_024310132.1:p.Gly105fs, XP_047272684.1:p.Gly7fs

Select item 14865015622.

rs1486501562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 5:111500034 (GRCh38)
5:110835732 (GRCh37)
Canonical SPDI:: NC_000005.10:111500033:C:G,NC_000005.10:111500033:C:T
Gene:: STARD4 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.111500034C>G, NC_000005.10:g.111500034C>T, NC_000005.9:g.110835732C>G, NC_000005.9:g.110835732C>T, NM_139164.3:c.470G>C, NM_139164.3:c.470G>A, NM_139164.2:c.470G>C, NM_139164.2:c.470G>A, NM_139164.1:c.470G>C, NM_139164.1:c.470G>A, XM_017009044.3:c.224G>C, XM_017009044.3:c.224G>A, XM_017009044.2:c.224G>C, XM_017009044.2:c.224G>A, XM_017009044.1:c.224G>C, XM_017009044.1:c.224G>A, XM_017009043.3:c.176G>C, XM_017009043.3:c.176G>A, XM_017009043.2:c.176G>C, XM_017009043.2:c.176G>A, XM_017009043.1:c.176G>C, XM_017009043.1:c.176G>A, NM_001308059.2:c.224G>C, NM_001308059.2:c.224G>A, NM_001308059.1:c.224G>C, NM_001308059.1:c.224G>A, NM_001308056.2:c.470G>C, NM_001308056.2:c.470G>A, NM_001308056.1:c.470G>C, NM_001308056.1:c.470G>A, NM_001308061.2:c.224G>C, NM_001308061.2:c.224G>A, NM_001308061.1:c.224G>C, NM_001308061.1:c.224G>A, NR_131754.2:n.413G>C, NR_131754.2:n.413G>A, NR_131754.1:n.475G>C, NR_131754.1:n.475G>A, NM_001308060.2:c.176G>C, NM_001308060.2:c.176G>A, NM_001308060.1:c.176G>C, NM_001308060.1:c.176G>A, XM_047416728.1:c.176G>C, XM_047416728.1:c.176G>A, NP_631903.1:p.Cys157Ser, NP_631903.1:p.Cys157Tyr, XP_016864533.1:p.Cys75Ser, XP_016864533.1:p.Cys75Tyr, XP_016864532.1:p.Cys59Ser, XP_016864532.1:p.Cys59Tyr, NP_001294988.1:p.Cys75Ser, NP_001294988.1:p.Cys75Tyr, NP_001294985.1:p.Cys157Ser, NP_001294985.1:p.Cys157Tyr, NP_001294990.1:p.Cys75Ser, NP_001294990.1:p.Cys75Tyr, NP_001294989.1:p.Cys59Ser, NP_001294989.1:p.Cys59Tyr, XP_047272684.1:p.Cys59Ser, XP_047272684.1:p.Cys59Tyr

Select item 14696015263.

rs1469601526 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:111500046 (GRCh38)
5:110835744 (GRCh37)
Canonical SPDI:: NC_000005.10:111500045:C:G
Gene:: STARD4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.111500046C>G, NC_000005.9:g.110835744C>G, NM_139164.3:c.458G>C, NM_139164.2:c.458G>C, NM_139164.1:c.458G>C, XM_017009044.3:c.212G>C, XM_017009044.2:c.212G>C, XM_017009044.1:c.212G>C, XM_017009043.3:c.164G>C, XM_017009043.2:c.164G>C, XM_017009043.1:c.164G>C, NM_001308059.2:c.212G>C, NM_001308059.1:c.212G>C, NM_001308056.2:c.458G>C, NM_001308056.1:c.458G>C, NM_001308061.2:c.212G>C, NM_001308061.1:c.212G>C, NR_131754.2:n.401G>C, NR_131754.1:n.463G>C, NM_001308060.2:c.164G>C, NM_001308060.1:c.164G>C, XM_047416728.1:c.164G>C, NP_631903.1:p.Cys153Ser, XP_016864533.1:p.Cys71Ser, XP_016864532.1:p.Cys55Ser, NP_001294988.1:p.Cys71Ser, NP_001294985.1:p.Cys153Ser, NP_001294990.1:p.Cys71Ser, NP_001294989.1:p.Cys55Ser, XP_047272684.1:p.Cys55Ser

Select item 14689380244.

rs1468938024 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:111501024 (GRCh38)
5:110836722 (GRCh37)
Canonical SPDI:: NC_000005.10:111501023:A:G,NC_000005.10:111501023:A:T
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,stop_gained,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111501024A>G, NC_000005.10:g.111501024A>T, NC_000005.9:g.110836722A>G, NC_000005.9:g.110836722A>T, NM_139164.3:c.375T>C, NM_139164.3:c.375T>A, NM_139164.2:c.375T>C, NM_139164.2:c.375T>A, NM_139164.1:c.375T>C, NM_139164.1:c.375T>A, XM_017009044.3:c.129T>C, XM_017009044.3:c.129T>A, XM_017009044.2:c.129T>C, XM_017009044.2:c.129T>A, XM_017009044.1:c.129T>C, XM_017009044.1:c.129T>A, XM_017009043.3:c.81T>C, XM_017009043.3:c.81T>A, XM_017009043.2:c.81T>C, XM_017009043.2:c.81T>A, XM_017009043.1:c.81T>C, XM_017009043.1:c.81T>A, NM_001308059.2:c.129T>C, NM_001308059.2:c.129T>A, NM_001308059.1:c.129T>C, NM_001308059.1:c.129T>A, NM_001308056.2:c.375T>C, NM_001308056.2:c.375T>A, NM_001308056.1:c.375T>C, NM_001308056.1:c.375T>A, NM_001308061.2:c.129T>C, NM_001308061.2:c.129T>A, NM_001308061.1:c.129T>C, NM_001308061.1:c.129T>A, NM_001308060.2:c.81T>C, NM_001308060.2:c.81T>A, NM_001308060.1:c.81T>C, NM_001308060.1:c.81T>A, NM_001308057.2:c.375T>C, NM_001308057.2:c.375T>A, NM_001308057.1:c.375T>C, NM_001308057.1:c.375T>A, NM_001308058.2:c.375T>C, NM_001308058.2:c.375T>A, NM_001308058.1:c.375T>C, NM_001308058.1:c.375T>A, NR_131752.2:n.421T>C, NR_131752.2:n.421T>A, NR_131752.1:n.483T>C, NR_131752.1:n.483T>A, NR_131753.2:n.408T>C, NR_131753.2:n.408T>A, NR_131753.1:n.470T>C, NR_131753.1:n.470T>A, XM_024454364.2:c.375T>C, XM_024454364.2:c.375T>A, XM_024454364.1:c.375T>C, XM_024454364.1:c.375T>A, XM_047416728.1:c.81T>C, XM_047416728.1:c.81T>A, NP_631903.1:p.Tyr125Ter, XP_016864533.1:p.Tyr43Ter, XP_016864532.1:p.Tyr27Ter, NP_001294988.1:p.Tyr43Ter, NP_001294985.1:p.Tyr125Ter, NP_001294990.1:p.Tyr43Ter, NP_001294989.1:p.Tyr27Ter, NP_001294986.1:p.Tyr125Ter, NP_001294987.1:p.Tyr125Ter, XP_024310132.1:p.Tyr125Ter, XP_047272684.1:p.Tyr27Ter

Select item 14634994155.

rs1463499415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:111501116 (GRCh38)
5:110836814 (GRCh37)
Canonical SPDI:: NC_000005.10:111501115:T:G
Gene:: STARD4 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.111501116T>G, NC_000005.9:g.110836814T>G, NM_139164.3:c.283A>C, NM_139164.2:c.283A>C, NM_139164.1:c.283A>C, XM_017009044.3:c.37A>C, XM_017009044.2:c.37A>C, XM_017009044.1:c.37A>C, XM_017009043.3:c.-12A>C, XM_017009043.2:c.-12A>C, XM_017009043.1:c.-12A>C, NM_001308059.2:c.37A>C, NM_001308059.1:c.37A>C, NM_001308056.2:c.283A>C, NM_001308056.1:c.283A>C, NM_001308061.2:c.37A>C, NM_001308061.1:c.37A>C, NR_131754.2:n.310A>C, NR_131754.1:n.372A>C, NM_001308060.2:c.-12A>C, NM_001308060.1:c.-12A>C, NM_001308057.2:c.283A>C, NM_001308057.1:c.283A>C, NM_001308058.2:c.283A>C, NM_001308058.1:c.283A>C, NR_131752.2:n.329A>C, NR_131752.1:n.391A>C, NR_131753.2:n.316A>C, NR_131753.1:n.378A>C, XM_024454364.2:c.283A>C, XM_024454364.1:c.283A>C, XM_047416728.1:c.-12A>C, NP_631903.1:p.Asn95His, XP_016864533.1:p.Asn13His, NP_001294988.1:p.Asn13His, NP_001294985.1:p.Asn95His, NP_001294990.1:p.Asn13His, NP_001294986.1:p.Asn95His, NP_001294987.1:p.Asn95His, XP_024310132.1:p.Asn95His

Select item 14614532756.

rs1461453275 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:111501056 (GRCh38)
5:110836754 (GRCh37)
Canonical SPDI:: NC_000005.10:111501055:C:A
Gene:: STARD4 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.111501056C>A, NC_000005.9:g.110836754C>A, NM_139164.3:c.343G>T, NM_139164.2:c.343G>T, NM_139164.1:c.343G>T, XM_017009044.3:c.97G>T, XM_017009044.2:c.97G>T, XM_017009044.1:c.97G>T, XM_017009043.3:c.49G>T, XM_017009043.2:c.49G>T, XM_017009043.1:c.49G>T, NM_001308059.2:c.97G>T, NM_001308059.1:c.97G>T, NM_001308056.2:c.343G>T, NM_001308056.1:c.343G>T, NM_001308061.2:c.97G>T, NM_001308061.1:c.97G>T, NM_001308060.2:c.49G>T, NM_001308060.1:c.49G>T, NM_001308057.2:c.343G>T, NM_001308057.1:c.343G>T, NM_001308058.2:c.343G>T, NM_001308058.1:c.343G>T, NR_131752.2:n.389G>T, NR_131752.1:n.451G>T, NR_131753.2:n.376G>T, NR_131753.1:n.438G>T, XM_024454364.2:c.343G>T, XM_024454364.1:c.343G>T, XM_047416728.1:c.49G>T, NP_631903.1:p.Glu115Ter, XP_016864533.1:p.Glu33Ter, XP_016864532.1:p.Glu17Ter, NP_001294988.1:p.Glu33Ter, NP_001294985.1:p.Glu115Ter, NP_001294990.1:p.Glu33Ter, NP_001294989.1:p.Glu17Ter, NP_001294986.1:p.Glu115Ter, NP_001294987.1:p.Glu115Ter, XP_024310132.1:p.Glu115Ter, XP_047272684.1:p.Glu17Ter

Select item 14514848177.

rs1451484817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:111500106 (GRCh38)
5:110835804 (GRCh37)
Canonical SPDI:: NC_000005.10:111500105:C:T
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111500106C>T, NC_000005.9:g.110835804C>T, NM_139164.3:c.398G>A, NM_139164.2:c.398G>A, NM_139164.1:c.398G>A, XM_017009044.3:c.152G>A, XM_017009044.2:c.152G>A, XM_017009044.1:c.152G>A, XM_017009043.3:c.104G>A, XM_017009043.2:c.104G>A, XM_017009043.1:c.104G>A, NM_001308059.2:c.152G>A, NM_001308059.1:c.152G>A, NM_001308056.2:c.398G>A, NM_001308056.1:c.398G>A, NM_001308061.2:c.152G>A, NM_001308061.1:c.152G>A, NR_131754.2:n.341G>A, NR_131754.1:n.403G>A, NM_001308060.2:c.104G>A, NM_001308060.1:c.104G>A, XM_047416728.1:c.104G>A, NP_631903.1:p.Gly133Glu, XP_016864533.1:p.Gly51Glu, XP_016864532.1:p.Gly35Glu, NP_001294988.1:p.Gly51Glu, NP_001294985.1:p.Gly133Glu, NP_001294990.1:p.Gly51Glu, NP_001294989.1:p.Gly35Glu, XP_047272684.1:p.Gly35Glu

Select item 14450858108.

rs1445085810 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 5:111499976 (GRCh38)
5:110835674 (GRCh37)
Canonical SPDI:: NC_000005.10:111499975:A:C,NC_000005.10:111499975:A:T
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.111499976A>C, NC_000005.10:g.111499976A>T, NC_000005.9:g.110835674A>C, NC_000005.9:g.110835674A>T, NM_139164.3:c.528T>G, NM_139164.3:c.528T>A, NM_139164.2:c.528T>G, NM_139164.2:c.528T>A, NM_139164.1:c.528T>G, NM_139164.1:c.528T>A, XM_017009044.3:c.282T>G, XM_017009044.3:c.282T>A, XM_017009044.2:c.282T>G, XM_017009044.2:c.282T>A, XM_017009044.1:c.282T>G, XM_017009044.1:c.282T>A, XM_017009043.3:c.234T>G, XM_017009043.3:c.234T>A, XM_017009043.2:c.234T>G, XM_017009043.2:c.234T>A, XM_017009043.1:c.234T>G, XM_017009043.1:c.234T>A, NM_001308059.2:c.282T>G, NM_001308059.2:c.282T>A, NM_001308059.1:c.282T>G, NM_001308059.1:c.282T>A, NM_001308056.2:c.528T>G, NM_001308056.2:c.528T>A, NM_001308056.1:c.528T>G, NM_001308056.1:c.528T>A, NM_001308061.2:c.282T>G, NM_001308061.2:c.282T>A, NM_001308061.1:c.282T>G, NM_001308061.1:c.282T>A, NR_131754.2:n.471T>G, NR_131754.2:n.471T>A, NR_131754.1:n.533T>G, NR_131754.1:n.533T>A, NM_001308060.2:c.234T>G, NM_001308060.2:c.234T>A, NM_001308060.1:c.234T>G, NM_001308060.1:c.234T>A, XM_047416728.1:c.234T>G, XM_047416728.1:c.234T>A, NP_631903.1:p.Asp176Glu, NP_631903.1:p.Asp176Glu, XP_016864533.1:p.Asp94Glu, XP_016864533.1:p.Asp94Glu, XP_016864532.1:p.Asp78Glu, XP_016864532.1:p.Asp78Glu, NP_001294988.1:p.Asp94Glu, NP_001294988.1:p.Asp94Glu, NP_001294985.1:p.Asp176Glu, NP_001294985.1:p.Asp176Glu, NP_001294990.1:p.Asp94Glu, NP_001294990.1:p.Asp94Glu, NP_001294989.1:p.Asp78Glu, NP_001294989.1:p.Asp78Glu, XP_047272684.1:p.Asp78Glu, XP_047272684.1:p.Asp78Glu

Select item 14420969259.

rs1442096925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:111499979 (GRCh38)
5:110835677 (GRCh37)
Canonical SPDI:: NC_000005.10:111499978:T:C
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,synonymous_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.111499979T>C, NC_000005.9:g.110835677T>C, NM_139164.3:c.525A>G, NM_139164.2:c.525A>G, NM_139164.1:c.525A>G, XM_017009044.3:c.279A>G, XM_017009044.2:c.279A>G, XM_017009044.1:c.279A>G, XM_017009043.3:c.231A>G, XM_017009043.2:c.231A>G, XM_017009043.1:c.231A>G, NM_001308059.2:c.279A>G, NM_001308059.1:c.279A>G, NM_001308056.2:c.525A>G, NM_001308056.1:c.525A>G, NM_001308061.2:c.279A>G, NM_001308061.1:c.279A>G, NR_131754.2:n.468A>G, NR_131754.1:n.530A>G, NM_001308060.2:c.231A>G, NM_001308060.1:c.231A>G, XM_047416728.1:c.231A>G

Select item 143838563110.

rs1438385631 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:111500018 (GRCh38)
5:110835716 (GRCh37)
Canonical SPDI:: NC_000005.10:111500017:G:C
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111500018G>C, NC_000005.9:g.110835716G>C, NM_139164.3:c.486C>G, NM_139164.2:c.486C>G, NM_139164.1:c.486C>G, XM_017009044.3:c.240C>G, XM_017009044.2:c.240C>G, XM_017009044.1:c.240C>G, XM_017009043.3:c.192C>G, XM_017009043.2:c.192C>G, XM_017009043.1:c.192C>G, NM_001308059.2:c.240C>G, NM_001308059.1:c.240C>G, NM_001308056.2:c.486C>G, NM_001308056.1:c.486C>G, NM_001308061.2:c.240C>G, NM_001308061.1:c.240C>G, NR_131754.2:n.429C>G, NR_131754.1:n.491C>G, NM_001308060.2:c.192C>G, NM_001308060.1:c.192C>G, XM_047416728.1:c.192C>G, NP_631903.1:p.Asp162Glu, XP_016864533.1:p.Asp80Glu, XP_016864532.1:p.Asp64Glu, NP_001294988.1:p.Asp80Glu, NP_001294985.1:p.Asp162Glu, NP_001294990.1:p.Asp80Glu, NP_001294989.1:p.Asp64Glu, XP_047272684.1:p.Asp64Glu

Select item 143818368411.

rs1438183684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:111499935 (GRCh38)
5:110835633 (GRCh37)
Canonical SPDI:: NC_000005.10:111499934:A:G
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.111499935A>G, NC_000005.9:g.110835633A>G, NM_139164.3:c.569T>C, NM_139164.2:c.569T>C, NM_139164.1:c.569T>C, XM_017009044.3:c.323T>C, XM_017009044.2:c.323T>C, XM_017009044.1:c.323T>C, XM_017009043.3:c.275T>C, XM_017009043.2:c.275T>C, XM_017009043.1:c.275T>C, NM_001308059.2:c.323T>C, NM_001308059.1:c.323T>C, NM_001308056.2:c.569T>C, NM_001308056.1:c.569T>C, NM_001308061.2:c.323T>C, NM_001308061.1:c.323T>C, NR_131754.2:n.512T>C, NR_131754.1:n.574T>C, NM_001308060.2:c.275T>C, NM_001308060.1:c.275T>C, XM_047416728.1:c.275T>C, NP_631903.1:p.Met190Thr, XP_016864533.1:p.Met108Thr, XP_016864532.1:p.Met92Thr, NP_001294988.1:p.Met108Thr, NP_001294985.1:p.Met190Thr, NP_001294990.1:p.Met108Thr, NP_001294989.1:p.Met92Thr, XP_047272684.1:p.Met92Thr

Select item 142730497112.

rs1427304971 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:111499970 (GRCh38)
5:110835668 (GRCh37)
Canonical SPDI:: NC_000005.10:111499969:A:G,NC_000005.10:111499969:A:T
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.111499970A>G, NC_000005.10:g.111499970A>T, NC_000005.9:g.110835668A>G, NC_000005.9:g.110835668A>T, NM_139164.3:c.534T>C, NM_139164.3:c.534T>A, NM_139164.2:c.534T>C, NM_139164.2:c.534T>A, NM_139164.1:c.534T>C, NM_139164.1:c.534T>A, XM_017009044.3:c.288T>C, XM_017009044.3:c.288T>A, XM_017009044.2:c.288T>C, XM_017009044.2:c.288T>A, XM_017009044.1:c.288T>C, XM_017009044.1:c.288T>A, XM_017009043.3:c.240T>C, XM_017009043.3:c.240T>A, XM_017009043.2:c.240T>C, XM_017009043.2:c.240T>A, XM_017009043.1:c.240T>C, XM_017009043.1:c.240T>A, NM_001308059.2:c.288T>C, NM_001308059.2:c.288T>A, NM_001308059.1:c.288T>C, NM_001308059.1:c.288T>A, NM_001308056.2:c.534T>C, NM_001308056.2:c.534T>A, NM_001308056.1:c.534T>C, NM_001308056.1:c.534T>A, NM_001308061.2:c.288T>C, NM_001308061.2:c.288T>A, NM_001308061.1:c.288T>C, NM_001308061.1:c.288T>A, NR_131754.2:n.477T>C, NR_131754.2:n.477T>A, NR_131754.1:n.539T>C, NR_131754.1:n.539T>A, NM_001308060.2:c.240T>C, NM_001308060.2:c.240T>A, NM_001308060.1:c.240T>C, NM_001308060.1:c.240T>A, XM_047416728.1:c.240T>C, XM_047416728.1:c.240T>A

Select item 141733740713.

rs1417337407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:111500048 (GRCh38)
5:110835746 (GRCh37)
Canonical SPDI:: NC_000005.10:111500047:G:C
Gene:: STARD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.111500048G>C, NC_000005.9:g.110835746G>C, NM_139164.3:c.456C>G, NM_139164.2:c.456C>G, NM_139164.1:c.456C>G, XM_017009044.3:c.210C>G, XM_017009044.2:c.210C>G, XM_017009044.1:c.210C>G, XM_017009043.3:c.162C>G, XM_017009043.2:c.162C>G, XM_017009043.1:c.162C>G, NM_001308059.2:c.210C>G, NM_001308059.1:c.210C>G, NM_001308056.2:c.456C>G, NM_001308056.1:c.456C>G, NM_001308061.2:c.210C>G, NM_001308061.1:c.210C>G, NR_131754.2:n.399C>G, NR_131754.1:n.461C>G, NM_001308060.2:c.162C>G, NM_001308060.1:c.162C>G, XM_047416728.1:c.162C>G

Select item 141165970314.

rs1411659703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:111501037 (GRCh38)
5:110836735 (GRCh37)
Canonical SPDI:: NC_000005.10:111501036:T:C,NC_000005.10:111501036:T:G
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.111501037T>C, NC_000005.10:g.111501037T>G, NC_000005.9:g.110836735T>C, NC_000005.9:g.110836735T>G, NM_139164.3:c.362A>G, NM_139164.3:c.362A>C, NM_139164.2:c.362A>G, NM_139164.2:c.362A>C, NM_139164.1:c.362A>G, NM_139164.1:c.362A>C, XM_017009044.3:c.116A>G, XM_017009044.3:c.116A>C, XM_017009044.2:c.116A>G, XM_017009044.2:c.116A>C, XM_017009044.1:c.116A>G, XM_017009044.1:c.116A>C, XM_017009043.3:c.68A>G, XM_017009043.3:c.68A>C, XM_017009043.2:c.68A>G, XM_017009043.2:c.68A>C, XM_017009043.1:c.68A>G, XM_017009043.1:c.68A>C, NM_001308059.2:c.116A>G, NM_001308059.2:c.116A>C, NM_001308059.1:c.116A>G, NM_001308059.1:c.116A>C, NM_001308056.2:c.362A>G, NM_001308056.2:c.362A>C, NM_001308056.1:c.362A>G, NM_001308056.1:c.362A>C, NM_001308061.2:c.116A>G, NM_001308061.2:c.116A>C, NM_001308061.1:c.116A>G, NM_001308061.1:c.116A>C, NM_001308060.2:c.68A>G, NM_001308060.2:c.68A>C, NM_001308060.1:c.68A>G, NM_001308060.1:c.68A>C, NM_001308057.2:c.362A>G, NM_001308057.2:c.362A>C, NM_001308057.1:c.362A>G, NM_001308057.1:c.362A>C, NM_001308058.2:c.362A>G, NM_001308058.2:c.362A>C, NM_001308058.1:c.362A>G, NM_001308058.1:c.362A>C, NR_131752.2:n.408A>G, NR_131752.2:n.408A>C, NR_131752.1:n.470A>G, NR_131752.1:n.470A>C, NR_131753.2:n.395A>G, NR_131753.2:n.395A>C, NR_131753.1:n.457A>G, NR_131753.1:n.457A>C, XM_024454364.2:c.362A>G, XM_024454364.2:c.362A>C, XM_024454364.1:c.362A>G, XM_024454364.1:c.362A>C, XM_047416728.1:c.68A>G, XM_047416728.1:c.68A>C, NP_631903.1:p.Tyr121Cys, NP_631903.1:p.Tyr121Ser, XP_016864533.1:p.Tyr39Cys, XP_016864533.1:p.Tyr39Ser, XP_016864532.1:p.Tyr23Cys, XP_016864532.1:p.Tyr23Ser, NP_001294988.1:p.Tyr39Cys, NP_001294988.1:p.Tyr39Ser, NP_001294985.1:p.Tyr121Cys, NP_001294985.1:p.Tyr121Ser, NP_001294990.1:p.Tyr39Cys, NP_001294990.1:p.Tyr39Ser, NP_001294989.1:p.Tyr23Cys, NP_001294989.1:p.Tyr23Ser, NP_001294986.1:p.Tyr121Cys, NP_001294986.1:p.Tyr121Ser, NP_001294987.1:p.Tyr121Cys, NP_001294987.1:p.Tyr121Ser, XP_024310132.1:p.Tyr121Cys, XP_024310132.1:p.Tyr121Ser, XP_047272684.1:p.Tyr23Cys, XP_047272684.1:p.Tyr23Ser

Select item 140993539015.

rs1409935390 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:111499902 (GRCh38)
5:110835600 (GRCh37)
Canonical SPDI:: NC_000005.10:111499901:A:C
Gene:: STARD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.111499902A>C, NC_000005.9:g.110835600A>C, NM_139164.3:c.602T>G, NM_139164.2:c.602T>G, NM_139164.1:c.602T>G, XM_017009044.3:c.356T>G, XM_017009044.2:c.356T>G, XM_017009044.1:c.356T>G, XM_017009043.3:c.308T>G, XM_017009043.2:c.308T>G, XM_017009043.1:c.308T>G, NM_001308059.2:c.356T>G, NM_001308059.1:c.356T>G, NM_001308056.2:c.602T>G, NM_001308056.1:c.602T>G, NM_001308061.2:c.356T>G, NM_001308061.1:c.356T>G, NR_131754.2:n.545T>G, NR_131754.1:n.607T>G, NM_001308060.2:c.308T>G, NM_001308060.1:c.308T>G, XM_047416728.1:c.308T>G, NP_631903.1:p.Leu201Ter, XP_016864533.1:p.Leu119Ter, XP_016864532.1:p.Leu103Ter, NP_001294988.1:p.Leu119Ter, NP_001294985.1:p.Leu201Ter, NP_001294990.1:p.Leu119Ter, NP_001294989.1:p.Leu103Ter, XP_047272684.1:p.Leu103Ter

Select item 140989418516.

rs1409894185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:111501006 (GRCh38)
5:110836704 (GRCh37)
Canonical SPDI:: NC_000005.10:111501005:A:G
Gene:: STARD4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.111501006A>G, NC_000005.9:g.110836704A>G, NM_139164.3:c.393T>C, NM_139164.2:c.393T>C, NM_139164.1:c.393T>C, XM_017009044.3:c.147T>C, XM_017009044.2:c.147T>C, XM_017009044.1:c.147T>C, XM_017009043.3:c.99T>C, XM_017009043.2:c.99T>C, XM_017009043.1:c.99T>C, NM_001308059.2:c.147T>C, NM_001308059.1:c.147T>C, NM_001308056.2:c.393T>C, NM_001308056.1:c.393T>C, NM_001308061.2:c.147T>C, NM_001308061.1:c.147T>C, NM_001308060.2:c.99T>C, NM_001308060.1:c.99T>C, NM_001308057.2:c.393T>C, NM_001308057.1:c.393T>C, NM_001308058.2:c.393T>C, NM_001308058.1:c.393T>C, NR_131752.2:n.439T>C, NR_131752.1:n.501T>C, NR_131753.2:n.426T>C, NR_131753.1:n.488T>C, XM_024454364.2:c.393T>C, XM_024454364.1:c.393T>C, XM_047416728.1:c.99T>C

Select item 137031014817.

rs1370310148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:111499916 (GRCh38)
5:110835614 (GRCh37)
Canonical SPDI:: NC_000005.10:111499915:G:A
Gene:: STARD4 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.111499916G>A, NC_000005.9:g.110835614G>A, NM_139164.3:c.588C>T, NM_139164.2:c.588C>T, NM_139164.1:c.588C>T, XM_017009044.3:c.342C>T, XM_017009044.2:c.342C>T, XM_017009044.1:c.342C>T, XM_017009043.3:c.294C>T, XM_017009043.2:c.294C>T, XM_017009043.1:c.294C>T, NM_001308059.2:c.342C>T, NM_001308059.1:c.342C>T, NM_001308056.2:c.588C>T, NM_001308056.1:c.588C>T, NM_001308061.2:c.342C>T, NM_001308061.1:c.342C>T, NR_131754.2:n.531C>T, NR_131754.1:n.593C>T, NM_001308060.2:c.294C>T, NM_001308060.1:c.294C>T, XM_047416728.1:c.294C>T

Select item 134824295218.

rs1348242952 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:111499900 (GRCh38)
5:110835598 (GRCh37)
Canonical SPDI:: NC_000005.10:111499899:G:A
Gene:: STARD4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,stop_gained,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.111499900G>A, NC_000005.9:g.110835598G>A, NM_139164.3:c.604C>T, NM_139164.2:c.604C>T, NM_139164.1:c.604C>T, XM_017009044.3:c.358C>T, XM_017009044.2:c.358C>T, XM_017009044.1:c.358C>T, XM_017009043.3:c.310C>T, XM_017009043.2:c.310C>T, XM_017009043.1:c.310C>T, NM_001308059.2:c.358C>T, NM_001308059.1:c.358C>T, NM_001308056.2:c.604C>T, NM_001308056.1:c.604C>T, NM_001308061.2:c.358C>T, NM_001308061.1:c.358C>T, NR_131754.2:n.547C>T, NR_131754.1:n.609C>T, NM_001308060.2:c.310C>T, NM_001308060.1:c.310C>T, XM_047416728.1:c.310C>T, NP_631903.1:p.Arg202Ter, XP_016864533.1:p.Arg120Ter, XP_016864532.1:p.Arg104Ter, NP_001294988.1:p.Arg120Ter, NP_001294985.1:p.Arg202Ter, NP_001294990.1:p.Arg120Ter, NP_001294989.1:p.Arg104Ter, XP_047272684.1:p.Arg104Ter

Select item 133555159619.

rs1335551596 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:111501087 (GRCh38)
5:110836785 (GRCh37)
Canonical SPDI:: NC_000005.10:111501086:A:T
Gene:: STARD4 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000005.10:g.111501087A>T, NC_000005.9:g.110836785A>T, NM_139164.3:c.312T>A, NM_139164.2:c.312T>A, NM_139164.1:c.312T>A, XM_017009044.3:c.66T>A, XM_017009044.2:c.66T>A, XM_017009044.1:c.66T>A, XM_017009043.3:c.18T>A, XM_017009043.2:c.18T>A, XM_017009043.1:c.18T>A, NM_001308059.2:c.66T>A, NM_001308059.1:c.66T>A, NM_001308056.2:c.312T>A, NM_001308056.1:c.312T>A, NM_001308061.2:c.66T>A, NM_001308061.1:c.66T>A, NR_131754.2:n.339T>A, NR_131754.1:n.401T>A, NM_001308060.2:c.18T>A, NM_001308060.1:c.18T>A, NM_001308057.2:c.312T>A, NM_001308057.1:c.312T>A, NM_001308058.2:c.312T>A, NM_001308058.1:c.312T>A, NR_131752.2:n.358T>A, NR_131752.1:n.420T>A, NR_131753.2:n.345T>A, NR_131753.1:n.407T>A, XM_024454364.2:c.312T>A, XM_024454364.1:c.312T>A, XM_047416728.1:c.18T>A

Select item 132882001120.

rs1328820011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:111501019 (GRCh38)
5:110836717 (GRCh37)
Canonical SPDI:: NC_000005.10:111501018:T:C
Gene:: STARD4 (Varview)
Functional Consequence:: missense_variant,intron_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.111501019T>C, NC_000005.9:g.110836717T>C, NM_139164.3:c.380A>G, NM_139164.2:c.380A>G, NM_139164.1:c.380A>G, XM_017009044.3:c.134A>G, XM_017009044.2:c.134A>G, XM_017009044.1:c.134A>G, XM_017009043.3:c.86A>G, XM_017009043.2:c.86A>G, XM_017009043.1:c.86A>G, NM_001308059.2:c.134A>G, NM_001308059.1:c.134A>G, NM_001308056.2:c.380A>G, NM_001308056.1:c.380A>G, NM_001308061.2:c.134A>G, NM_001308061.1:c.134A>G, NM_001308060.2:c.86A>G, NM_001308060.1:c.86A>G, NM_001308057.2:c.380A>G, NM_001308057.1:c.380A>G, NM_001308058.2:c.380A>G, NM_001308058.1:c.380A>G, NR_131752.2:n.426A>G, NR_131752.1:n.488A>G, NR_131753.2:n.413A>G, NR_131753.1:n.475A>G, XM_024454364.2:c.380A>G, XM_024454364.1:c.380A>G, XM_047416728.1:c.86A>G, NP_631903.1:p.Glu127Gly, XP_016864533.1:p.Glu45Gly, XP_016864532.1:p.Glu29Gly, NP_001294988.1:p.Glu45Gly, NP_001294985.1:p.Glu127Gly, NP_001294990.1:p.Glu45Gly, NP_001294989.1:p.Glu29Gly, NP_001294986.1:p.Glu127Gly, NP_001294987.1:p.Glu127Gly, XP_024310132.1:p.Glu127Gly, XP_047272684.1:p.Glu29Gly

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