SNP Links for Protein (Select 528881083) - SNP

Links from Protein

Items: 1 to 20 of 546

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Select item 14886458211.

rs1488645821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:158697575 (GRCh38)
4:159618727 (GRCh37)
Canonical SPDI:: NC_000004.12:158697574:A:G,NC_000004.12:158697574:A:T
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.158697575A>G, NC_000004.12:g.158697575A>T, NC_000004.11:g.159618727A>G, NC_000004.11:g.159618727A>T, NG_007078.2:g.30234A>G, NG_007078.2:g.30234A>T, NM_004453.4:c.848A>G, NM_004453.4:c.848A>T, NM_004453.3:c.848A>G, NM_004453.3:c.848A>T, NM_004453.2:c.848A>G, NM_004453.2:c.848A>T, NM_001281737.2:c.707A>G, NM_001281737.2:c.707A>T, NM_001281737.1:c.707A>G, NM_001281737.1:c.707A>T, NM_001281738.1:c.665A>G, NM_001281738.1:c.665A>T, NP_004444.2:p.Glu283Gly, NP_004444.2:p.Glu283Val, NP_001268666.1:p.Glu236Gly, NP_001268666.1:p.Glu236Val, NP_001268667.1:p.Glu222Gly, NP_001268667.1:p.Glu222Val

Select item 14867337532.

rs1486733753 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:158706205 (GRCh38)
4:159627358 (GRCh37)
Canonical SPDI:: NC_000004.12:158706205:T:TT
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158706206dup, NC_000004.11:g.159627358dup, NG_007078.2:g.38865dup, NM_004453.4:c.1303dup, NM_004453.3:c.1303dup, NM_004453.2:c.1303dup, NM_001281737.2:c.1162dup, NM_001281737.1:c.1162dup, NM_001281738.1:c.1120dup, NP_004444.2:p.Tyr435fs, NP_001268666.1:p.Tyr388fs, NP_001268667.1:p.Tyr374fs

Select item 14867032363.

rs1486703236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:158708508 (GRCh38)
4:159629660 (GRCh37)
Canonical SPDI:: NC_000004.12:158708507:C:T
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158708508C>T, NC_000004.11:g.159629660C>T, NG_007078.2:g.41167C>T, NM_004453.4:c.1835C>T, NM_004453.3:c.1835C>T, NM_004453.2:c.1835C>T, NM_001281737.2:c.1694C>T, NM_001281737.1:c.1694C>T, NM_001281738.1:c.1652C>T, NP_004444.2:p.Pro612Leu, NP_001268666.1:p.Pro565Leu, NP_001268667.1:p.Pro551Leu

Select item 14859599824.

rs1485959982 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:158706215 (GRCh38)
4:159627367 (GRCh37)
Canonical SPDI:: NC_000004.12:158706214:A:G
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000132/2 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
G=0.000142/2 (TOMMO)
G=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.158706215A>G, NC_000004.11:g.159627367A>G, NG_007078.2:g.38874A>G, NM_004453.4:c.1312A>G, NM_004453.3:c.1312A>G, NM_004453.2:c.1312A>G, NM_001281737.2:c.1171A>G, NM_001281737.1:c.1171A>G, NM_001281738.1:c.1129A>G, NP_004444.2:p.Asn438Asp, NP_001268666.1:p.Asn391Asp, NP_001268667.1:p.Asn377Asp

Select item 14826329365.

rs1482632936 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:158690406 (GRCh38)
4:159611558 (GRCh37)
Canonical SPDI:: NC_000004.12:158690405:A:C
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic,uncertain-significance
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_000004.12:g.158690406A>C, NC_000004.11:g.159611558A>C, NG_007078.2:g.23065A>C, NM_004453.4:c.665A>C, NM_004453.3:c.665A>C, NM_004453.2:c.665A>C, NM_001281737.2:c.524A>C, NM_001281737.1:c.524A>C, NM_001281738.1:c.482A>C, NP_004444.2:p.Gln222Pro, NP_001268666.1:p.Gln175Pro, NP_001268667.1:p.Gln161Pro

Select item 14818430556.

rs1481843055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:158695580 (GRCh38)
4:159616732 (GRCh37)
Canonical SPDI:: NC_000004.12:158695579:A:G
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.158695580A>G, NC_000004.11:g.159616732A>G, NG_007078.2:g.28239A>G, NM_004453.4:c.768A>G, NM_004453.3:c.768A>G, NM_004453.2:c.768A>G, NM_001281737.2:c.627A>G, NM_001281737.1:c.627A>G, NM_001281738.1:c.585A>G

Select item 14806471237.

rs1480647123 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTA>- [Show Flanks]
Chromosome:: 4:158703561 (GRCh38)
4:159624713 (GRCh37)
Canonical SPDI:: NC_000004.12:158703555:AACTAACTA:AACTA
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Clinical significance:: pathogenic-likely-pathogenic
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158703557ACTA[1], NC_000004.11:g.159624709ACTA[1], NG_007078.2:g.36216ACTA[1], NM_004453.4:c.1255_1258del, NM_004453.3:c.1255_1258del, NM_004453.2:c.1255_1258del, NM_001281737.2:c.1114_1117del, NM_001281737.1:c.1114_1117del, NM_001281738.1:c.1072_1075del, NP_004444.2:p.Thr419fs, NP_001268666.1:p.Thr372fs, NP_001268667.1:p.Thr358fs

Select item 14766739758.

rs1476673975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:158699016 (GRCh38)
4:159620168 (GRCh37)
Canonical SPDI:: NC_000004.12:158699015:G:A,NC_000004.12:158699015:G:C
Gene:: ETFDH (Varview), LOC124900922 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
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_000004.12:g.158699016G>A, NC_000004.12:g.158699016G>C, NC_000004.11:g.159620168G>A, NC_000004.11:g.159620168G>C, NG_007078.2:g.31675G>A, NG_007078.2:g.31675G>C, NM_004453.4:c.1002G>A, NM_004453.4:c.1002G>C, NM_004453.3:c.1002G>A, NM_004453.3:c.1002G>C, NM_004453.2:c.1002G>A, NM_004453.2:c.1002G>C, NM_001281737.2:c.861G>A, NM_001281737.2:c.861G>C, NM_001281737.1:c.861G>A, NM_001281737.1:c.861G>C, NM_001281738.1:c.819G>A, NM_001281738.1:c.819G>C

Select item 14760565099.

rs1476056509 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:158708391 (GRCh38)
4:159629543 (GRCh37)
Canonical SPDI:: NC_000004.12:158708390:A:G
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.158708391A>G, NC_000004.11:g.159629543A>G, NG_007078.2:g.41050A>G, NM_004453.4:c.1718A>G, NM_004453.3:c.1718A>G, NM_004453.2:c.1718A>G, NM_001281737.2:c.1577A>G, NM_001281737.1:c.1577A>G, NM_001281738.1:c.1535A>G, NP_004444.2:p.Gln573Arg, NP_001268666.1:p.Gln526Arg, NP_001268667.1:p.Gln512Arg

Select item 147465329810.

rs1474653298 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:158682420 (GRCh38)
4:159603572 (GRCh37)
Canonical SPDI:: NC_000004.12:158682419:A:G
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.158682420A>G, NC_000004.11:g.159603572A>G, NG_007078.2:g.15079A>G, NM_004453.4:c.401A>G, NM_004453.3:c.401A>G, NM_004453.2:c.401A>G, NM_001281737.2:c.260A>G, NM_001281737.1:c.260A>G, NM_001281738.1:c.218A>G, NP_004444.2:p.Lys134Arg, NP_001268666.1:p.Lys87Arg, NP_001268667.1:p.Lys73Arg

Select item 147331451611.

rs1473314516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:158690362 (GRCh38)
4:159611514 (GRCh37)
Canonical SPDI:: NC_000004.12:158690361:T:A
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158690362T>A, NC_000004.11:g.159611514T>A, NG_007078.2:g.23021T>A, NM_004453.4:c.621T>A, NM_004453.3:c.621T>A, NM_004453.2:c.621T>A, NM_001281737.2:c.480T>A, NM_001281737.1:c.480T>A, NM_001281738.1:c.438T>A, NP_004444.2:p.Asp207Glu, NP_001268666.1:p.Asp160Glu, NP_001268667.1:p.Asp146Glu

Select item 147317031212.

rs1473170312 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:158695557 (GRCh38)
4:159616709 (GRCh37)
Canonical SPDI:: NC_000004.12:158695556:C:T
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000004.12:g.158695557C>T, NC_000004.11:g.159616709C>T, NG_007078.2:g.28216C>T, NM_004453.4:c.745C>T, NM_004453.3:c.745C>T, NM_004453.2:c.745C>T, NM_001281737.2:c.604C>T, NM_001281737.1:c.604C>T, NM_001281738.1:c.562C>T, NP_004444.2:p.His249Tyr, NP_001268666.1:p.His202Tyr, NP_001268667.1:p.His188Tyr

Select item 146905363813.

rs1469053638 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:158706808 (GRCh38)
4:159627960 (GRCh37)
Canonical SPDI:: NC_000004.12:158706806:TCT:T
Gene:: ETFDH (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.158706808_158706809del, NC_000004.11:g.159627960_159627961del, NG_007078.2:g.39467_39468del, NM_004453.4:c.1648_1649del, NM_004453.3:c.1648_1649del, NM_004453.2:c.1648_1649del, NM_001281737.2:c.1507_1508del, NM_001281737.1:c.1507_1508del, NM_001281738.1:c.1465_1466del, NP_004444.2:p.Leu550fs, NP_001268666.1:p.Leu503fs, NP_001268667.1:p.Leu489fs

Select item 146742885714.

rs1467428857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:158682372 (GRCh38)
4:159603524 (GRCh37)
Canonical SPDI:: NC_000004.12:158682371:G:T
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158682372G>T, NC_000004.11:g.159603524G>T, NG_007078.2:g.15031G>T, NM_004453.4:c.353G>T, NM_004453.3:c.353G>T, NM_004453.2:c.353G>T, NM_001281737.2:c.212G>T, NM_001281737.1:c.212G>T, NM_001281738.1:c.170G>T, NP_004444.2:p.Cys118Phe, NP_001268666.1:p.Cys71Phe, NP_001268667.1:p.Cys57Phe

Select item 146700722315.

rs1467007223 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:158695634 (GRCh38)
4:159616786 (GRCh37)
Canonical SPDI:: NC_000004.12:158695633:A:C
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158695634A>C, NC_000004.11:g.159616786A>C, NG_007078.2:g.28293A>C, NM_004453.4:c.822A>C, NM_004453.3:c.822A>C, NM_004453.2:c.822A>C, NM_001281737.2:c.681A>C, NM_001281737.1:c.681A>C, NM_001281738.1:c.639A>C

Select item 146678778916.

rs1466787789 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:158703447 (GRCh38)
4:159624599 (GRCh37)
Canonical SPDI:: NC_000004.12:158703446:G:C
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.158703447G>C, NC_000004.11:g.159624599G>C, NG_007078.2:g.36106G>C, NM_004453.4:c.1141G>C, NM_004453.3:c.1141G>C, NM_004453.2:c.1141G>C, NM_001281737.2:c.1000G>C, NM_001281737.1:c.1000G>C, NM_001281738.1:c.958G>C, NP_004444.2:p.Gly381Arg, NP_001268666.1:p.Gly334Arg, NP_001268667.1:p.Gly320Arg

Select item 146627594217.

rs1466275942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:158682398 (GRCh38)
4:159603550 (GRCh37)
Canonical SPDI:: NC_000004.12:158682397:C:T
Gene:: ETFDH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158682398C>T, NC_000004.11:g.159603550C>T, NG_007078.2:g.15057C>T, NM_004453.4:c.379C>T, NM_004453.3:c.379C>T, NM_004453.2:c.379C>T, NM_001281737.2:c.238C>T, NM_001281737.1:c.238C>T, NM_001281738.1:c.196C>T, NP_004444.2:p.Leu127Phe, NP_001268666.1:p.Leu80Phe, NP_001268667.1:p.Leu66Phe

Select item 146535844018.

rs1465358440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:158695526 (GRCh38)
4:159616678 (GRCh37)
Canonical SPDI:: NC_000004.12:158695525:T:C
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.158695526T>C, NC_000004.11:g.159616678T>C, NG_007078.2:g.28185T>C, NM_004453.4:c.714T>C, NM_004453.3:c.714T>C, NM_004453.2:c.714T>C, NM_001281737.2:c.573T>C, NM_001281737.1:c.573T>C, NM_001281738.1:c.531T>C

Select item 146435611719.

rs1464356117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:158697689 (GRCh38)
4:159618841 (GRCh37)
Canonical SPDI:: NC_000004.12:158697688:T:C
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158697689T>C, NC_000004.11:g.159618841T>C, NG_007078.2:g.30348T>C, NM_004453.4:c.962T>C, NM_004453.3:c.962T>C, NM_004453.2:c.962T>C, NM_001281737.2:c.821T>C, NM_001281737.1:c.821T>C, NM_001281738.1:c.779T>C, NP_004444.2:p.Leu321Pro, NP_001268666.1:p.Leu274Pro, NP_001268667.1:p.Leu260Pro

Select item 146379590720.

rs1463795907 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:158685142 (GRCh38)
4:159606294 (GRCh37)
Canonical SPDI:: NC_000004.12:158685141:G:A
Gene:: ETFDH (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.158685142G>A, NC_000004.11:g.159606294G>A, NG_007078.2:g.17801G>A, NM_004453.4:c.529G>A, NM_004453.3:c.529G>A, NM_004453.2:c.529G>A, NM_001281737.2:c.388G>A, NM_001281737.1:c.388G>A, NM_001281738.1:c.346G>A, NP_004444.2:p.Gly177Arg, NP_001268666.1:p.Gly130Arg, NP_001268667.1:p.Gly116Arg

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