SNP Links for Protein (Select 767931582) - SNP

Links from Protein

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Select item 14871376361.

rs1487137636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140537501 (GRCh38)
4:141458655 (GRCh37)
Canonical SPDI:: NC_000004.12:140537500:A:G
Gene:: ELMOD2 (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=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140537501A>G, NC_000004.11:g.141458655A>G, NG_027825.1:g.18344A>G, NM_153702.4:c.359A>G, NM_153702.3:c.359A>G, XM_005262885.4:c.395A>G, XM_005262885.3:c.395A>G, XM_005262885.2:c.395A>G, XM_005262885.1:c.395A>G, XM_011531818.3:c.395A>G, XM_011531818.2:c.395A>G, XM_011531818.1:c.395A>G, XM_011531819.3:c.359A>G, XM_011531819.2:c.359A>G, XM_011531819.1:c.359A>G, XR_001741193.2:n.818A>G, XR_001741193.1:n.564A>G, XM_047449980.1:c.359A>G, XM_047449981.1:c.395A>G, NP_714913.1:p.Tyr120Cys, XP_005262942.1:p.Tyr132Cys, XP_011530120.1:p.Tyr132Cys, XP_011530121.1:p.Tyr120Cys, XP_047305936.1:p.Tyr120Cys, XP_047305937.1:p.Tyr132Cys

Select item 14783187852.

rs1478318785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140527484 (GRCh38)
4:141448638 (GRCh37)
Canonical SPDI:: NC_000004.12:140527483:C:T
Gene:: ELMOD2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140527484C>T, NC_000004.11:g.141448638C>T, NG_027825.1:g.8327C>T, NM_153702.4:c.161C>T, NM_153702.3:c.161C>T, XM_005262885.4:c.197C>T, XM_005262885.3:c.197C>T, XM_005262885.2:c.197C>T, XM_005262885.1:c.197C>T, XM_011531818.3:c.197C>T, XM_011531818.2:c.197C>T, XM_011531818.1:c.197C>T, XM_011531819.3:c.161C>T, XM_011531819.2:c.161C>T, XM_011531819.1:c.161C>T, XR_001741193.2:n.620C>T, XR_001741193.1:n.366C>T, XM_047449980.1:c.161C>T, XM_047449981.1:c.197C>T, NP_714913.1:p.Ser54Phe, XP_005262942.1:p.Ser66Phe, XP_011530120.1:p.Ser66Phe, XP_011530121.1:p.Ser54Phe, XP_047305936.1:p.Ser54Phe, XP_047305937.1:p.Ser66Phe

Select item 14759617893.

rs1475961789 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:140542598 (GRCh38)
4:141463752 (GRCh37)
Canonical SPDI:: NC_000004.12:140542597:T:C,NC_000004.12:140542597:T:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.140542598T>C, NC_000004.12:g.140542598T>G, NC_000004.11:g.141463752T>C, NC_000004.11:g.141463752T>G, NG_027825.1:g.23441T>C, NG_027825.1:g.23441T>G, NM_153702.4:c.558T>C, NM_153702.4:c.558T>G, NM_153702.3:c.558T>C, NM_153702.3:c.558T>G, XM_005262885.4:c.594T>C, XM_005262885.4:c.594T>G, XM_005262885.3:c.594T>C, XM_005262885.3:c.594T>G, XM_005262885.2:c.594T>C, XM_005262885.2:c.594T>G, XM_005262885.1:c.594T>C, XM_005262885.1:c.594T>G, XM_011531818.3:c.594T>C, XM_011531818.3:c.594T>G, XM_011531818.2:c.594T>C, XM_011531818.2:c.594T>G, XM_011531818.1:c.594T>C, XM_011531818.1:c.594T>G, XM_011531819.3:c.558T>C, XM_011531819.3:c.558T>G, XM_011531819.2:c.558T>C, XM_011531819.2:c.558T>G, XM_011531819.1:c.558T>C, XM_011531819.1:c.558T>G, XR_001741193.2:n.1017T>C, XR_001741193.2:n.1017T>G, XR_001741193.1:n.763T>C, XR_001741193.1:n.763T>G, XM_047449980.1:c.558T>C, XM_047449980.1:c.558T>G, XM_047449981.1:c.594T>C, XM_047449981.1:c.594T>G, NP_714913.1:p.Ser186Arg, XP_005262942.1:p.Ser198Arg, XP_011530120.1:p.Ser198Arg, XP_011530121.1:p.Ser186Arg, XP_047305936.1:p.Ser186Arg, XP_047305937.1:p.Ser198Arg

Select item 14703345794.

rs1470334579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:140543548 (GRCh38)
4:141464702 (GRCh37)
Canonical SPDI:: NC_000004.12:140543547:C:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,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 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140543548C>G, NC_000004.11:g.141464702C>G, NG_027825.1:g.24391C>G, NM_153702.4:c.698C>G, NM_153702.3:c.698C>G, XM_005262885.4:c.734C>G, XM_005262885.3:c.734C>G, XM_005262885.2:c.734C>G, XM_005262885.1:c.734C>G, XM_011531818.3:c.734C>G, XM_011531818.2:c.734C>G, XM_011531818.1:c.734C>G, XM_011531819.3:c.698C>G, XM_011531819.2:c.698C>G, XM_011531819.1:c.698C>G, XR_001741193.2:n.1157C>G, XR_001741193.1:n.903C>G, XM_047449980.1:c.698C>G, XM_047449981.1:c.*48C>G, NP_714913.1:p.Pro233Arg, XP_005262942.1:p.Pro245Arg, XP_011530120.1:p.Pro245Arg, XP_011530121.1:p.Pro233Arg, XP_047305936.1:p.Pro233Arg

Select item 14697151075.

rs1469715107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:140543738 (GRCh38)
4:141464892 (GRCh37)
Canonical SPDI:: NC_000004.12:140543737:C:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant,non_coding_transcript_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_000004.12:g.140543738C>G, NC_000004.11:g.141464892C>G, NG_027825.1:g.24581C>G, XM_011531818.3:c.794C>G, XM_011531818.2:c.794C>G, XM_011531818.1:c.794C>G, XR_001741193.2:n.1217C>G, XR_001741193.1:n.963C>G, XM_047449980.1:c.758C>G, XP_011530120.1:p.Thr265Arg, XP_047305936.1:p.Thr253Arg

Select item 14644583336.

rs1464458333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140543825 (GRCh38)
4:141464979 (GRCh37)
Canonical SPDI:: NC_000004.12:140543824:T:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,downstream_transcript_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
HGVS:: NC_000004.12:g.140543825T>C, NC_000004.11:g.141464979T>C, NG_027825.1:g.24668T>C, XM_011531818.3:c.881T>C, XM_011531818.2:c.881T>C, XM_011531818.1:c.881T>C, XR_001741193.2:n.1304T>C, XR_001741193.1:n.1050T>C, XM_047449980.1:c.845T>C, XP_011530120.1:p.Ile294Thr, XP_047305936.1:p.Ile282Thr

Select item 14590971917.

rs1459097191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:140540217 (GRCh38)
4:141461371 (GRCh37)
Canonical SPDI:: NC_000004.12:140540216:A:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140540217A>G, NC_000004.11:g.141461371A>G, NG_027825.1:g.21060A>G, NM_153702.4:c.449A>G, NM_153702.3:c.449A>G, XM_005262885.4:c.485A>G, XM_005262885.3:c.485A>G, XM_005262885.2:c.485A>G, XM_005262885.1:c.485A>G, XM_011531818.3:c.485A>G, XM_011531818.2:c.485A>G, XM_011531818.1:c.485A>G, XM_011531819.3:c.449A>G, XM_011531819.2:c.449A>G, XM_011531819.1:c.449A>G, XR_001741193.2:n.908A>G, XR_001741193.1:n.654A>G, XM_047449980.1:c.449A>G, XM_047449981.1:c.485A>G, NP_714913.1:p.Lys150Arg, XP_005262942.1:p.Lys162Arg, XP_011530120.1:p.Lys162Arg, XP_011530121.1:p.Lys150Arg, XP_047305936.1:p.Lys150Arg, XP_047305937.1:p.Lys162Arg

Select item 14573915358.

rs1457391535 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:140537442 (GRCh38)
4:141458596 (GRCh37)
Canonical SPDI:: NC_000004.12:140537441:G:A,NC_000004.12:140537441:G:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000057/2 (ALFA)
A=0.000005/1 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
HGVS:: NC_000004.12:g.140537442G>A, NC_000004.12:g.140537442G>T, NC_000004.11:g.141458596G>A, NC_000004.11:g.141458596G>T, NG_027825.1:g.18285G>A, NG_027825.1:g.18285G>T, NM_153702.4:c.300G>A, NM_153702.4:c.300G>T, NM_153702.3:c.300G>A, NM_153702.3:c.300G>T, XM_005262885.4:c.336G>A, XM_005262885.4:c.336G>T, XM_005262885.3:c.336G>A, XM_005262885.3:c.336G>T, XM_005262885.2:c.336G>A, XM_005262885.2:c.336G>T, XM_005262885.1:c.336G>A, XM_005262885.1:c.336G>T, XM_011531818.3:c.336G>A, XM_011531818.3:c.336G>T, XM_011531818.2:c.336G>A, XM_011531818.2:c.336G>T, XM_011531818.1:c.336G>A, XM_011531818.1:c.336G>T, XM_011531819.3:c.300G>A, XM_011531819.3:c.300G>T, XM_011531819.2:c.300G>A, XM_011531819.2:c.300G>T, XM_011531819.1:c.300G>A, XM_011531819.1:c.300G>T, XR_001741193.2:n.759G>A, XR_001741193.2:n.759G>T, XR_001741193.1:n.505G>A, XR_001741193.1:n.505G>T, XM_047449980.1:c.300G>A, XM_047449980.1:c.300G>T, XM_047449981.1:c.336G>A, XM_047449981.1:c.336G>T

Select item 14553669749.

rs1455366974 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:140537441 (GRCh38)
4:141458595 (GRCh37)
Canonical SPDI:: NC_000004.12:140537440:T:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.140537441T>C, NC_000004.11:g.141458595T>C, NG_027825.1:g.18284T>C, NM_153702.4:c.299T>C, NM_153702.3:c.299T>C, XM_005262885.4:c.335T>C, XM_005262885.3:c.335T>C, XM_005262885.2:c.335T>C, XM_005262885.1:c.335T>C, XM_011531818.3:c.335T>C, XM_011531818.2:c.335T>C, XM_011531818.1:c.335T>C, XM_011531819.3:c.299T>C, XM_011531819.2:c.299T>C, XM_011531819.1:c.299T>C, XR_001741193.2:n.758T>C, XR_001741193.1:n.504T>C, XM_047449980.1:c.299T>C, XM_047449981.1:c.335T>C, NP_714913.1:p.Leu100Pro, XP_005262942.1:p.Leu112Pro, XP_011530120.1:p.Leu112Pro, XP_011530121.1:p.Leu100Pro, XP_047305936.1:p.Leu100Pro, XP_047305937.1:p.Leu112Pro

Select item 145343501410.

rs1453435014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140540224 (GRCh38)
4:141461378 (GRCh37)
Canonical SPDI:: NC_000004.12:140540223:G:A
Gene:: ELMOD2 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,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_000004.12:g.140540224G>A, NC_000004.11:g.141461378G>A, NG_027825.1:g.21067G>A, NM_153702.4:c.456G>A, NM_153702.3:c.456G>A, XM_005262885.4:c.492G>A, XM_005262885.3:c.492G>A, XM_005262885.2:c.492G>A, XM_005262885.1:c.492G>A, XM_011531818.3:c.492G>A, XM_011531818.2:c.492G>A, XM_011531818.1:c.492G>A, XM_011531819.3:c.456G>A, XM_011531819.2:c.456G>A, XM_011531819.1:c.456G>A, XR_001741193.2:n.915G>A, XR_001741193.1:n.661G>A, XM_047449980.1:c.456G>A, XM_047449981.1:c.492G>A, NP_714913.1:p.Trp152Ter, XP_005262942.1:p.Trp164Ter, XP_011530120.1:p.Trp164Ter, XP_011530121.1:p.Trp152Ter, XP_047305936.1:p.Trp152Ter, XP_047305937.1:p.Trp164Ter

Select item 145290863611.

rs1452908636 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:140543776 (GRCh38)
4:141464930 (GRCh37)
Canonical SPDI:: NC_000004.12:140543775:G:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140543776G>T, NC_000004.11:g.141464930G>T, NG_027825.1:g.24619G>T, XM_011531818.3:c.832G>T, XM_011531818.2:c.832G>T, XM_011531818.1:c.832G>T, XR_001741193.2:n.1255G>T, XR_001741193.1:n.1001G>T, XM_047449980.1:c.796G>T, XP_011530120.1:p.Val278Phe, XP_047305936.1:p.Val266Phe

Select item 145248790212.

rs1452487902 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:140537463 (GRCh38)
4:141458617 (GRCh37)
Canonical SPDI:: NC_000004.12:140537462:G:A
Gene:: ELMOD2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.140537463G>A, NC_000004.11:g.141458617G>A, NG_027825.1:g.18306G>A, NM_153702.4:c.321G>A, NM_153702.3:c.321G>A, XM_005262885.4:c.357G>A, XM_005262885.3:c.357G>A, XM_005262885.2:c.357G>A, XM_005262885.1:c.357G>A, XM_011531818.3:c.357G>A, XM_011531818.2:c.357G>A, XM_011531818.1:c.357G>A, XM_011531819.3:c.321G>A, XM_011531819.2:c.321G>A, XM_011531819.1:c.321G>A, XR_001741193.2:n.780G>A, XR_001741193.1:n.526G>A, XM_047449980.1:c.321G>A, XM_047449981.1:c.357G>A

Select item 144576704213.

rs1445767042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:140543758 (GRCh38)
4:141464912 (GRCh37)
Canonical SPDI:: NC_000004.12:140543757:A:C,NC_000004.12:140543757:A:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
G=0.00022/1 (Estonian)
HGVS:: NC_000004.12:g.140543758A>C, NC_000004.12:g.140543758A>G, NC_000004.11:g.141464912A>C, NC_000004.11:g.141464912A>G, NG_027825.1:g.24601A>C, NG_027825.1:g.24601A>G, XM_011531818.3:c.814A>C, XM_011531818.3:c.814A>G, XM_011531818.2:c.814A>C, XM_011531818.2:c.814A>G, XM_011531818.1:c.814A>C, XM_011531818.1:c.814A>G, XR_001741193.2:n.1237A>C, XR_001741193.2:n.1237A>G, XR_001741193.1:n.983A>C, XR_001741193.1:n.983A>G, XM_047449980.1:c.778A>C, XM_047449980.1:c.778A>G, XP_011530120.1:p.Arg272Gly, XP_047305936.1:p.Arg260Gly

Select item 143476376914.

rs1434763769 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTCT [Show Flanks]
Chromosome:: 4:140543821 (GRCh38)
4:141464976 (GRCh37)
Canonical SPDI:: NC_000004.12:140543821::GTCT
Gene:: ELMOD2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTCT=0./0 (ALFA)
GTCT=0.000004/1 (TOPMED)
GTCT=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140543821_140543822insGTCT, NC_000004.11:g.141464975_141464976insGTCT, NG_027825.1:g.24664_24665insGTCT, XM_011531818.3:c.877_878insGTCT, XM_011531818.2:c.877_878insGTCT, XM_011531818.1:c.877_878insGTCT, XR_001741193.2:n.1300_1301insGTCT, XR_001741193.1:n.1046_1047insGTCT, XM_047449980.1:c.841_842insGTCT, XP_011530120.1:p.His293fs, XP_047305936.1:p.His281fs

Select item 143171016815.

rs1431710168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:140540226 (GRCh38)
4:141461380 (GRCh37)
Canonical SPDI:: NC_000004.12:140540225:C:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140540226C>T, NC_000004.11:g.141461380C>T, NG_027825.1:g.21069C>T, NM_153702.4:c.458C>T, NM_153702.3:c.458C>T, XM_005262885.4:c.494C>T, XM_005262885.3:c.494C>T, XM_005262885.2:c.494C>T, XM_005262885.1:c.494C>T, XM_011531818.3:c.494C>T, XM_011531818.2:c.494C>T, XM_011531818.1:c.494C>T, XM_011531819.3:c.458C>T, XM_011531819.2:c.458C>T, XM_011531819.1:c.458C>T, XR_001741193.2:n.917C>T, XR_001741193.1:n.663C>T, XM_047449980.1:c.458C>T, XM_047449981.1:c.494C>T, NP_714913.1:p.Ala153Val, XP_005262942.1:p.Ala165Val, XP_011530120.1:p.Ala165Val, XP_011530121.1:p.Ala153Val, XP_047305936.1:p.Ala153Val, XP_047305937.1:p.Ala165Val

Select item 143154379416.

rs1431543794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:140525524 (GRCh38)
4:141446678 (GRCh37)
Canonical SPDI:: NC_000004.12:140525523:G:C,NC_000004.12:140525523:G:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.140525524G>C, NC_000004.12:g.140525524G>T, NC_000004.11:g.141446678G>C, NC_000004.11:g.141446678G>T, NG_027825.1:g.6367G>C, NG_027825.1:g.6367G>T, NM_153702.4:c.96G>C, NM_153702.4:c.96G>T, NM_153702.3:c.96G>C, NM_153702.3:c.96G>T, XM_005262885.4:c.132G>C, XM_005262885.4:c.132G>T, XM_005262885.3:c.132G>C, XM_005262885.3:c.132G>T, XM_005262885.2:c.132G>C, XM_005262885.2:c.132G>T, XM_005262885.1:c.132G>C, XM_005262885.1:c.132G>T, XM_011531818.3:c.132G>C, XM_011531818.3:c.132G>T, XM_011531818.2:c.132G>C, XM_011531818.2:c.132G>T, XM_011531818.1:c.132G>C, XM_011531818.1:c.132G>T, XM_011531819.3:c.96G>C, XM_011531819.3:c.96G>T, XM_011531819.2:c.96G>C, XM_011531819.2:c.96G>T, XM_011531819.1:c.96G>C, XM_011531819.1:c.96G>T, XR_001741193.2:n.555G>C, XR_001741193.2:n.555G>T, XR_001741193.1:n.301G>C, XR_001741193.1:n.301G>T, XM_047449980.1:c.96G>C, XM_047449980.1:c.96G>T, XM_047449981.1:c.132G>C, XM_047449981.1:c.132G>T, NP_714913.1:p.Gln32His, NP_714913.1:p.Gln32His, XP_005262942.1:p.Gln44His, XP_005262942.1:p.Gln44His, XP_011530120.1:p.Gln44His, XP_011530120.1:p.Gln44His, XP_011530121.1:p.Gln32His, XP_011530121.1:p.Gln32His, XP_047305936.1:p.Gln32His, XP_047305936.1:p.Gln32His, XP_047305937.1:p.Gln44His, XP_047305937.1:p.Gln44His

Select item 142772652317.

rs1427726523 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:140527481 (GRCh38)
4:141448635 (GRCh37)
Canonical SPDI:: NC_000004.12:140527480:A:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.140527481A>T, NC_000004.11:g.141448635A>T, NG_027825.1:g.8324A>T, NM_153702.4:c.158A>T, NM_153702.3:c.158A>T, XM_005262885.4:c.194A>T, XM_005262885.3:c.194A>T, XM_005262885.2:c.194A>T, XM_005262885.1:c.194A>T, XM_011531818.3:c.194A>T, XM_011531818.2:c.194A>T, XM_011531818.1:c.194A>T, XM_011531819.3:c.158A>T, XM_011531819.2:c.158A>T, XM_011531819.1:c.158A>T, XR_001741193.2:n.617A>T, XR_001741193.1:n.363A>T, XM_047449980.1:c.158A>T, XM_047449981.1:c.194A>T, NP_714913.1:p.Tyr53Phe, XP_005262942.1:p.Tyr65Phe, XP_011530120.1:p.Tyr65Phe, XP_011530121.1:p.Tyr53Phe, XP_047305936.1:p.Tyr53Phe, XP_047305937.1:p.Tyr65Phe

Select item 142305782618.

rs1423057826 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:140537512 (GRCh38)
4:141458666 (GRCh37)
Canonical SPDI:: NC_000004.12:140537511:A:C
Gene:: ELMOD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.140537512A>C, NC_000004.11:g.141458666A>C, NG_027825.1:g.18355A>C, NM_153702.4:c.370A>C, NM_153702.3:c.370A>C, XM_005262885.4:c.406A>C, XM_005262885.3:c.406A>C, XM_005262885.2:c.406A>C, XM_005262885.1:c.406A>C, XM_011531818.3:c.406A>C, XM_011531818.2:c.406A>C, XM_011531818.1:c.406A>C, XM_011531819.3:c.370A>C, XM_011531819.2:c.370A>C, XM_011531819.1:c.370A>C, XR_001741193.2:n.829A>C, XR_001741193.1:n.575A>C, XM_047449980.1:c.370A>C, XM_047449981.1:c.406A>C, NP_714913.1:p.Asn124His, XP_005262942.1:p.Asn136His, XP_011530120.1:p.Asn136His, XP_011530121.1:p.Asn124His, XP_047305936.1:p.Asn124His, XP_047305937.1:p.Asn136His

Select item 142154146519.

rs1421541465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:140542614 (GRCh38)
4:141463768 (GRCh37)
Canonical SPDI:: NC_000004.12:140542613:C:A,NC_000004.12:140542613:C:G
Gene:: ELMOD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.140542614C>A, NC_000004.12:g.140542614C>G, NC_000004.11:g.141463768C>A, NC_000004.11:g.141463768C>G, NG_027825.1:g.23457C>A, NG_027825.1:g.23457C>G, NM_153702.4:c.574C>A, NM_153702.4:c.574C>G, NM_153702.3:c.574C>A, NM_153702.3:c.574C>G, XM_005262885.4:c.610C>A, XM_005262885.4:c.610C>G, XM_005262885.3:c.610C>A, XM_005262885.3:c.610C>G, XM_005262885.2:c.610C>A, XM_005262885.2:c.610C>G, XM_005262885.1:c.610C>A, XM_005262885.1:c.610C>G, XM_011531818.3:c.610C>A, XM_011531818.3:c.610C>G, XM_011531818.2:c.610C>A, XM_011531818.2:c.610C>G, XM_011531818.1:c.610C>A, XM_011531818.1:c.610C>G, XM_011531819.3:c.574C>A, XM_011531819.3:c.574C>G, XM_011531819.2:c.574C>A, XM_011531819.2:c.574C>G, XM_011531819.1:c.574C>A, XM_011531819.1:c.574C>G, XR_001741193.2:n.1033C>A, XR_001741193.2:n.1033C>G, XR_001741193.1:n.779C>A, XR_001741193.1:n.779C>G, XM_047449980.1:c.574C>A, XM_047449980.1:c.574C>G, XM_047449981.1:c.610C>A, XM_047449981.1:c.610C>G, NP_714913.1:p.Leu192Ile, NP_714913.1:p.Leu192Val, XP_005262942.1:p.Leu204Ile, XP_005262942.1:p.Leu204Val, XP_011530120.1:p.Leu204Ile, XP_011530120.1:p.Leu204Val, XP_011530121.1:p.Leu192Ile, XP_011530121.1:p.Leu192Val, XP_047305936.1:p.Leu192Ile, XP_047305936.1:p.Leu192Val, XP_047305937.1:p.Leu204Ile, XP_047305937.1:p.Leu204Val

Select item 142076578420.

rs1420765784 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:140525501 (GRCh38)
4:141446655 (GRCh37)
Canonical SPDI:: NC_000004.12:140525500:A:T
Gene:: ELMOD2 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.140525501A>T, NC_000004.11:g.141446655A>T, NG_027825.1:g.6344A>T, NM_153702.4:c.73A>T, NM_153702.3:c.73A>T, XM_005262885.4:c.109A>T, XM_005262885.3:c.109A>T, XM_005262885.2:c.109A>T, XM_005262885.1:c.109A>T, XM_011531818.3:c.109A>T, XM_011531818.2:c.109A>T, XM_011531818.1:c.109A>T, XM_011531819.3:c.73A>T, XM_011531819.2:c.73A>T, XM_011531819.1:c.73A>T, XR_001741193.2:n.532A>T, XR_001741193.1:n.278A>T, XM_047449980.1:c.73A>T, XM_047449981.1:c.109A>T, NP_714913.1:p.Met25Leu, XP_005262942.1:p.Met37Leu, XP_011530120.1:p.Met37Leu, XP_011530121.1:p.Met25Leu, XP_047305936.1:p.Met25Leu, XP_047305937.1:p.Met37Leu

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