SNP Links for Protein (Select 53729332) - SNP

Links from Protein

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Select item 14898180651.

rs1489818065 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8426611 (GRCh38)
19:8491495 (GRCh37)
Canonical SPDI:: NC_000019.10:8426610:A:G
Gene:: MARCHF2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8426611A>G, NC_000019.9:g.8491495A>G, NM_016496.5:c.179A>G, NM_016496.4:c.179A>G, NM_001005415.2:c.179A>G, NM_001005415.1:c.179A>G, NM_001005416.2:c.179A>G, NM_001005416.1:c.179A>G, NM_001369776.1:c.179A>G, NM_001369779.1:c.179A>G, NM_001369778.1:c.179A>G, NM_001369777.1:c.179A>G, NP_057580.3:p.Asp60Gly, NP_001005415.1:p.Asp60Gly, NP_001005416.1:p.Asp60Gly, NP_001356705.1:p.Asp60Gly, NP_001356708.1:p.Asp60Gly, NP_001356707.1:p.Asp60Gly, NP_001356706.1:p.Asp60Gly

Select item 14887218992.

rs1488721899 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8421911 (GRCh38)
19:8486795 (GRCh37)
Canonical SPDI:: NC_000019.10:8421910:A:G
Gene:: MARCHF2 (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=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8421911A>G, NC_000019.9:g.8486795A>G, NM_016496.5:c.71A>G, NM_016496.4:c.71A>G, NM_001005415.2:c.71A>G, NM_001005415.1:c.71A>G, NM_001005416.2:c.71A>G, NM_001005416.1:c.71A>G, NM_001369776.1:c.71A>G, NM_001369779.1:c.71A>G, NM_001369778.1:c.71A>G, NM_001369777.1:c.71A>G, NR_163145.1:n.239A>G, NP_057580.3:p.Lys24Arg, NP_001005415.1:p.Lys24Arg, NP_001005416.1:p.Lys24Arg, NP_001356705.1:p.Lys24Arg, NP_001356708.1:p.Lys24Arg, NP_001356707.1:p.Lys24Arg, NP_001356706.1:p.Lys24Arg

Select item 14835216603.

rs1483521660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8426763 (GRCh38)
19:8491647 (GRCh37)
Canonical SPDI:: NC_000019.10:8426762:A:G
Gene:: MARCHF2 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8426763A>G, NC_000019.9:g.8491647A>G, NM_016496.5:c.331A>G, NM_016496.4:c.331A>G, NM_001005415.2:c.331A>G, NM_001005415.1:c.331A>G, NM_001005416.2:c.331A>G, NM_001005416.1:c.331A>G, NM_001369776.1:c.331A>G, NM_001369779.1:c.331A>G, NM_001369778.1:c.331A>G, NM_001369777.1:c.331A>G, NP_057580.3:p.Thr111Ala, NP_001005415.1:p.Thr111Ala, NP_001005416.1:p.Thr111Ala, NP_001356705.1:p.Thr111Ala, NP_001356708.1:p.Thr111Ala, NP_001356707.1:p.Thr111Ala, NP_001356706.1:p.Thr111Ala

Select item 14830917884.

rs1483091788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:8421868 (GRCh38)
19:8486752 (GRCh37)
Canonical SPDI:: NC_000019.10:8421867:C:A,NC_000019.10:8421867:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8421868C>A, NC_000019.10:g.8421868C>T, NC_000019.9:g.8486752C>A, NC_000019.9:g.8486752C>T, NM_016496.5:c.28C>A, NM_016496.5:c.28C>T, NM_016496.4:c.28C>A, NM_016496.4:c.28C>T, NM_001005415.2:c.28C>A, NM_001005415.2:c.28C>T, NM_001005415.1:c.28C>A, NM_001005415.1:c.28C>T, NM_001005416.2:c.28C>A, NM_001005416.2:c.28C>T, NM_001005416.1:c.28C>A, NM_001005416.1:c.28C>T, NM_001369776.1:c.28C>A, NM_001369776.1:c.28C>T, NM_001369779.1:c.28C>A, NM_001369779.1:c.28C>T, NM_001369778.1:c.28C>A, NM_001369778.1:c.28C>T, NM_001369777.1:c.28C>A, NM_001369777.1:c.28C>T, NR_163145.1:n.196C>A, NR_163145.1:n.196C>T, NP_057580.3:p.Pro10Thr, NP_057580.3:p.Pro10Ser, NP_001005415.1:p.Pro10Thr, NP_001005415.1:p.Pro10Ser, NP_001005416.1:p.Pro10Thr, NP_001005416.1:p.Pro10Ser, NP_001356705.1:p.Pro10Thr, NP_001356705.1:p.Pro10Ser, NP_001356708.1:p.Pro10Thr, NP_001356708.1:p.Pro10Ser, NP_001356707.1:p.Pro10Thr, NP_001356707.1:p.Pro10Ser, NP_001356706.1:p.Pro10Thr, NP_001356706.1:p.Pro10Ser

Select item 14753601735.

rs1475360173 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:8421865 (GRCh38)
19:8486749 (GRCh37)
Canonical SPDI:: NC_000019.10:8421864:C:A
Gene:: MARCHF2 (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 (TOPMED)
HGVS:: NC_000019.10:g.8421865C>A, NC_000019.9:g.8486749C>A, NM_016496.5:c.25C>A, NM_016496.4:c.25C>A, NM_001005415.2:c.25C>A, NM_001005415.1:c.25C>A, NM_001005416.2:c.25C>A, NM_001005416.1:c.25C>A, NM_001369776.1:c.25C>A, NM_001369779.1:c.25C>A, NM_001369778.1:c.25C>A, NM_001369777.1:c.25C>A, NR_163145.1:n.193C>A, NP_057580.3:p.Leu9Ile, NP_001005415.1:p.Leu9Ile, NP_001005416.1:p.Leu9Ile, NP_001356705.1:p.Leu9Ile, NP_001356708.1:p.Leu9Ile, NP_001356707.1:p.Leu9Ile, NP_001356706.1:p.Leu9Ile

Select item 14741787256.

rs1474178725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:8430732 (GRCh38)
19:8495616 (GRCh37)
Canonical SPDI:: NC_000019.10:8430731:A:G
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_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_000019.10:g.8430732A>G, NC_000019.9:g.8495616A>G, NM_016496.5:c.447A>G, NM_016496.4:c.447A>G, NM_001005415.2:c.447A>G, NM_001005415.1:c.447A>G, NM_001369776.1:c.447A>G, NM_001369779.1:c.447A>G, NM_001369778.1:c.447A>G, NM_001369777.1:c.447A>G, NR_163145.1:n.419A>G

Select item 14623196967.

rs1462319696 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:8430864 (GRCh38)
19:8495748 (GRCh37)
Canonical SPDI:: NC_000019.10:8430863:G:A
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8430864G>A, NC_000019.9:g.8495748G>A, NM_016496.5:c.579G>A, NM_016496.4:c.579G>A, NM_001005415.2:c.579G>A, NM_001005415.1:c.579G>A, NM_001369776.1:c.579G>A, NM_001369779.1:c.579G>A, NM_001369778.1:c.579G>A, NM_001369777.1:c.579G>A, NR_163145.1:n.551G>A

Select item 14566653868.

rs1456665386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8430815 (GRCh38)
19:8495699 (GRCh37)
Canonical SPDI:: NC_000019.10:8430814:G:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
T=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.8430815G>T, NC_000019.9:g.8495699G>T, NM_016496.5:c.530G>T, NM_016496.4:c.530G>T, NM_001005415.2:c.530G>T, NM_001005415.1:c.530G>T, NM_001369776.1:c.530G>T, NM_001369779.1:c.530G>T, NM_001369778.1:c.530G>T, NM_001369777.1:c.530G>T, NR_163145.1:n.502G>T, NP_057580.3:p.Gly177Val, NP_001005415.1:p.Gly177Val, NP_001356705.1:p.Gly177Val, NP_001356708.1:p.Gly177Val, NP_001356707.1:p.Gly177Val, NP_001356706.1:p.Gly177Val

Select item 14527951759.

rs1452795175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8426731 (GRCh38)
19:8491615 (GRCh37)
Canonical SPDI:: NC_000019.10:8426730:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8426731C>T, NC_000019.9:g.8491615C>T, NM_016496.5:c.299C>T, NM_016496.4:c.299C>T, NM_001005415.2:c.299C>T, NM_001005415.1:c.299C>T, NM_001005416.2:c.299C>T, NM_001005416.1:c.299C>T, NM_001369776.1:c.299C>T, NM_001369779.1:c.299C>T, NM_001369778.1:c.299C>T, NM_001369777.1:c.299C>T, NP_057580.3:p.Ser100Leu, NP_001005415.1:p.Ser100Leu, NP_001005416.1:p.Ser100Leu, NP_001356705.1:p.Ser100Leu, NP_001356708.1:p.Ser100Leu, NP_001356707.1:p.Ser100Leu, NP_001356706.1:p.Ser100Leu

Select item 145229988610.

rs1452299886 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:8438541 (GRCh38)
19:8503425 (GRCh37)
Canonical SPDI:: NC_000019.10:8438540:G:A,NC_000019.10:8438540:G:C
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000087/2 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.8438541G>A, NC_000019.10:g.8438541G>C, NC_000019.9:g.8503425G>A, NC_000019.9:g.8503425G>C, NM_016496.5:c.736G>A, NM_016496.5:c.736G>C, NM_016496.4:c.736G>A, NM_016496.4:c.736G>C, NM_001005415.2:c.736G>A, NM_001005415.2:c.736G>C, NM_001005415.1:c.736G>A, NM_001005415.1:c.736G>C, NM_001005416.2:c.526G>A, NM_001005416.2:c.526G>C, NM_001005416.1:c.526G>A, NM_001005416.1:c.526G>C, NM_001369776.1:c.736G>A, NM_001369776.1:c.736G>C, NM_001369779.1:c.736G>A, NM_001369779.1:c.736G>C, NM_001369778.1:c.736G>A, NM_001369778.1:c.736G>C, NM_001369777.1:c.736G>A, NM_001369777.1:c.736G>C, NR_163145.1:n.708G>A, NR_163145.1:n.708G>C, NP_057580.3:p.Val246Ile, NP_057580.3:p.Val246Leu, NP_001005415.1:p.Val246Ile, NP_001005415.1:p.Val246Leu, NP_001005416.1:p.Val176Ile, NP_001005416.1:p.Val176Leu, NP_001356705.1:p.Val246Ile, NP_001356705.1:p.Val246Leu, NP_001356708.1:p.Val246Ile, NP_001356708.1:p.Val246Leu, NP_001356707.1:p.Val246Ile, NP_001356707.1:p.Val246Leu, NP_001356706.1:p.Val246Ile, NP_001356706.1:p.Val246Leu

Select item 145026036311.

rs1450260363 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:8430658 (GRCh38)
19:8495542 (GRCh37)
Canonical SPDI:: NC_000019.10:8430657:T:A
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_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_000019.10:g.8430658T>A, NC_000019.9:g.8495542T>A, NM_016496.5:c.373T>A, NM_016496.4:c.373T>A, NM_001005415.2:c.373T>A, NM_001005415.1:c.373T>A, NM_001369776.1:c.373T>A, NM_001369779.1:c.373T>A, NM_001369778.1:c.373T>A, NM_001369777.1:c.373T>A, NR_163145.1:n.345T>A, NP_057580.3:p.Trp125Arg, NP_001005415.1:p.Trp125Arg, NP_001356705.1:p.Trp125Arg, NP_001356708.1:p.Trp125Arg, NP_001356707.1:p.Trp125Arg, NP_001356706.1:p.Trp125Arg

Select item 144787183412.

rs1447871834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 19:8430710 (GRCh38)
19:8495594 (GRCh37)
Canonical SPDI:: NC_000019.10:8430709:T:A,NC_000019.10:8430709:T:G
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8430710T>A, NC_000019.10:g.8430710T>G, NC_000019.9:g.8495594T>A, NC_000019.9:g.8495594T>G, NM_016496.5:c.425T>A, NM_016496.5:c.425T>G, NM_016496.4:c.425T>A, NM_016496.4:c.425T>G, NM_001005415.2:c.425T>A, NM_001005415.2:c.425T>G, NM_001005415.1:c.425T>A, NM_001005415.1:c.425T>G, NM_001369776.1:c.425T>A, NM_001369776.1:c.425T>G, NM_001369779.1:c.425T>A, NM_001369779.1:c.425T>G, NM_001369778.1:c.425T>A, NM_001369778.1:c.425T>G, NM_001369777.1:c.425T>A, NM_001369777.1:c.425T>G, NR_163145.1:n.397T>A, NR_163145.1:n.397T>G, NP_057580.3:p.Met142Lys, NP_057580.3:p.Met142Arg, NP_001005415.1:p.Met142Lys, NP_001005415.1:p.Met142Arg, NP_001356705.1:p.Met142Lys, NP_001356705.1:p.Met142Arg, NP_001356708.1:p.Met142Lys, NP_001356708.1:p.Met142Arg, NP_001356707.1:p.Met142Lys, NP_001356707.1:p.Met142Arg, NP_001356706.1:p.Met142Lys, NP_001356706.1:p.Met142Arg

Select item 144401295513.

rs1444012955 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:8426766 (GRCh38)
19:8491650 (GRCh37)
Canonical SPDI:: NC_000019.10:8426765:G:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8426766G>T, NC_000019.9:g.8491650G>T, NM_016496.5:c.334G>T, NM_016496.4:c.334G>T, NM_001005415.2:c.334G>T, NM_001005415.1:c.334G>T, NM_001005416.2:c.334G>T, NM_001005416.1:c.334G>T, NM_001369776.1:c.334G>T, NM_001369779.1:c.334G>T, NM_001369778.1:c.334G>T, NM_001369777.1:c.334G>T, NP_057580.3:p.Glu112Ter, NP_001005415.1:p.Glu112Ter, NP_001005416.1:p.Glu112Ter, NP_001356705.1:p.Glu112Ter, NP_001356708.1:p.Glu112Ter, NP_001356707.1:p.Glu112Ter, NP_001356706.1:p.Glu112Ter

Select item 144310103714.

rs1443101037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8430843 (GRCh38)
19:8495727 (GRCh37)
Canonical SPDI:: NC_000019.10:8430842:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8430843C>T, NC_000019.9:g.8495727C>T, NM_016496.5:c.558C>T, NM_016496.4:c.558C>T, NM_001005415.2:c.558C>T, NM_001005415.1:c.558C>T, NM_001369776.1:c.558C>T, NM_001369779.1:c.558C>T, NM_001369778.1:c.558C>T, NM_001369777.1:c.558C>T, NR_163145.1:n.530C>T

Select item 143970625615.

rs1439706256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8421981 (GRCh38)
19:8486865 (GRCh37)
Canonical SPDI:: NC_000019.10:8421980:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8421981C>T, NC_000019.9:g.8486865C>T, NM_016496.5:c.141C>T, NM_016496.4:c.141C>T, NM_001005415.2:c.141C>T, NM_001005415.1:c.141C>T, NM_001005416.2:c.141C>T, NM_001005416.1:c.141C>T, NM_001369776.1:c.141C>T, NM_001369779.1:c.141C>T, NM_001369778.1:c.141C>T, NM_001369777.1:c.141C>T, NR_163145.1:n.309C>T

Select item 142619692116.

rs1426196921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8430740 (GRCh38)
19:8495624 (GRCh37)
Canonical SPDI:: NC_000019.10:8430739:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.8430740C>T, NC_000019.9:g.8495624C>T, NM_016496.5:c.455C>T, NM_016496.4:c.455C>T, NM_001005415.2:c.455C>T, NM_001005415.1:c.455C>T, NM_001369776.1:c.455C>T, NM_001369779.1:c.455C>T, NM_001369778.1:c.455C>T, NM_001369777.1:c.455C>T, NR_163145.1:n.427C>T, NP_057580.3:p.Ala152Val, NP_001005415.1:p.Ala152Val, NP_001356705.1:p.Ala152Val, NP_001356708.1:p.Ala152Val, NP_001356707.1:p.Ala152Val, NP_001356706.1:p.Ala152Val

Select item 142556496117.

rs1425564961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8438467 (GRCh38)
19:8503351 (GRCh37)
Canonical SPDI:: NC_000019.10:8438466:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.8438467C>T, NC_000019.9:g.8503351C>T, NM_016496.5:c.662C>T, NM_016496.4:c.662C>T, NM_001005415.2:c.662C>T, NM_001005415.1:c.662C>T, NM_001005416.2:c.452C>T, NM_001005416.1:c.452C>T, NM_001369776.1:c.662C>T, NM_001369779.1:c.662C>T, NM_001369778.1:c.662C>T, NM_001369777.1:c.662C>T, NR_163145.1:n.634C>T, NP_057580.3:p.Ala221Val, NP_001005415.1:p.Ala221Val, NP_001005416.1:p.Ala151Val, NP_001356705.1:p.Ala221Val, NP_001356708.1:p.Ala221Val, NP_001356707.1:p.Ala221Val, NP_001356706.1:p.Ala221Val

Select item 141698146118.

rs1416981461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:8421857 (GRCh38)
19:8486741 (GRCh37)
Canonical SPDI:: NC_000019.10:8421856:G:C
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.8421857G>C, NC_000019.9:g.8486741G>C, NM_016496.5:c.17G>C, NM_016496.4:c.17G>C, NM_001005415.2:c.17G>C, NM_001005415.1:c.17G>C, NM_001005416.2:c.17G>C, NM_001005416.1:c.17G>C, NM_001369776.1:c.17G>C, NM_001369779.1:c.17G>C, NM_001369778.1:c.17G>C, NM_001369777.1:c.17G>C, NR_163145.1:n.185G>C, NP_057580.3:p.Cys6Ser, NP_001005415.1:p.Cys6Ser, NP_001005416.1:p.Cys6Ser, NP_001356705.1:p.Cys6Ser, NP_001356708.1:p.Cys6Ser, NP_001356707.1:p.Cys6Ser, NP_001356706.1:p.Cys6Ser

Select item 141520946219.

rs1415209462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:8421993 (GRCh38)
19:8486877 (GRCh37)
Canonical SPDI:: NC_000019.10:8421992:C:T
Gene:: MARCHF2 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.8421993C>T, NC_000019.9:g.8486877C>T, NM_016496.5:c.153C>T, NM_016496.4:c.153C>T, NM_001005415.2:c.153C>T, NM_001005415.1:c.153C>T, NM_001005416.2:c.153C>T, NM_001005416.1:c.153C>T, NM_001369776.1:c.153C>T, NM_001369779.1:c.153C>T, NM_001369778.1:c.153C>T, NM_001369777.1:c.153C>T, NR_163145.1:n.321C>T

Select item 141389592920.

rs1413895929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:8421869 (GRCh38)
19:8486753 (GRCh37)
Canonical SPDI:: NC_000019.10:8421868:C:A
Gene:: MARCHF2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.8421869C>A, NC_000019.9:g.8486753C>A, NM_016496.5:c.29C>A, NM_016496.4:c.29C>A, NM_001005415.2:c.29C>A, NM_001005415.1:c.29C>A, NM_001005416.2:c.29C>A, NM_001005416.1:c.29C>A, NM_001369776.1:c.29C>A, NM_001369779.1:c.29C>A, NM_001369778.1:c.29C>A, NM_001369777.1:c.29C>A, NR_163145.1:n.197C>A, NP_057580.3:p.Pro10His, NP_001005415.1:p.Pro10His, NP_001005416.1:p.Pro10His, NP_001356705.1:p.Pro10His, NP_001356708.1:p.Pro10His, NP_001356707.1:p.Pro10His, NP_001356706.1:p.Pro10His

dbSNP

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