SNP Links for Protein (Select 526118169) - SNP

Select item 14643372482.

rs1464337248 [Homo sapiens]

Variant type:: SNV:
Alleles:: C>T
Chromosome:: no mapping
Canonical SPDI:

Select item 14631255013.

rs1463125501 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14506944014.

rs1450694401 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133363748 (GRCh38)
9:136230624 (GRCh37)
Canonical SPDI:: NC_000009.12:133363747:G:A
Gene:: SURF4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,synonymous_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_000009.12:g.133363748G>A, NW_009646201.1:g.189842G>A, NW_003315925.1:g.189842G>A, NC_000009.11:g.136230624G>A, XM_011518945.4:c.366C>T, XM_011518945.3:c.366C>T, XM_011518945.2:c.366C>T, XM_011518945.1:c.366C>T, NM_033161.4:c.555C>T, NM_033161.3:c.555C>T, XM_011518944.3:c.528C>T, XM_011518944.2:c.528C>T, XM_011518944.1:c.528C>T, NM_001280790.2:c.426C>T, NM_001280790.1:c.426C>T, NM_001280788.2:c.510C>T, NM_001280788.1:c.510C>T, NM_001280793.2:c.204C>T, NM_001280793.1:c.204C>T, NM_001280792.2:c.368C>T, NM_001280792.1:c.368C>T, NM_001280791.2:c.426C>T, NM_001280791.1:c.426C>T, XM_047423806.1:c.528C>T, XM_047423804.1:c.651C>T, XM_047423807.1:c.528C>T, XM_047423805.1:c.651C>T, XM_047423803.1:c.651C>T, XM_047423808.1:c.426C>T, XM_047423802.1:c.651C>T, NP_001267721.1:p.Thr123Ile

Select item 14491177335.

rs1449117733 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14459601656.

rs1445960165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133367280 (GRCh38)
9:136234156 (GRCh37)
Canonical SPDI:: NC_000009.12:133367279:G:A
Gene:: SURF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133367280G>A, NW_009646201.1:g.193374G>A, NW_003315925.1:g.193374G>A, NC_000009.11:g.136234156G>A, XM_011518945.4:c.212C>T, XM_011518945.3:c.212C>T, XM_011518945.2:c.212C>T, XM_011518945.1:c.212C>T, NM_033161.4:c.214C>T, NM_033161.3:c.214C>T, XM_011518944.3:c.187C>T, XM_011518944.2:c.187C>T, XM_011518944.1:c.187C>T, NM_001280790.2:c.85C>T, NM_001280790.1:c.85C>T, NM_001280788.2:c.169C>T, NM_001280788.1:c.169C>T, NM_001280793.2:c.-61C>T, NM_001280793.1:c.-61C>T, NM_001280792.2:c.214C>T, NM_001280792.1:c.214C>T, NM_001280789.2:c.214C>T, NM_001280789.1:c.214C>T, NM_001280791.2:c.85C>T, NM_001280791.1:c.85C>T, XM_047423806.1:c.187C>T, XM_047423804.1:c.310C>T, XM_047423805.1:c.310C>T, XM_047423807.1:c.187C>T, XM_047423802.1:c.310C>T, XM_047423803.1:c.310C>T, XM_047423808.1:c.85C>T, XP_011517247.1:p.Pro71Leu, NP_149351.1:p.Leu72Phe, XP_011517246.1:p.Leu63Phe, NP_001267719.1:p.Leu29Phe, NP_001267717.1:p.Leu57Phe, NP_001267721.1:p.Leu72Phe, NP_001267718.1:p.Leu72Phe, NP_001267720.1:p.Leu29Phe, XP_047279762.1:p.Leu63Phe, XP_047279760.1:p.Leu104Phe, XP_047279761.1:p.Leu104Phe, XP_047279763.1:p.Leu63Phe, XP_047279758.1:p.Leu104Phe, XP_047279759.1:p.Leu104Phe, XP_047279764.1:p.Leu29Phe

Select item 14438068087.

rs1443806808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:133367328 (GRCh38)
9:136234204 (GRCh37)
Canonical SPDI:: NC_000009.12:133367327:C:G,NC_000009.12:133367327:C:T
Gene:: SURF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133367328C>G, NC_000009.12:g.133367328C>T, NW_009646201.1:g.193422C>G, NW_009646201.1:g.193422C>T, NW_003315925.1:g.193422C>G, NW_003315925.1:g.193422C>T, NC_000009.11:g.136234204C>G, NC_000009.11:g.136234204C>T, XM_011518945.4:c.164G>C, XM_011518945.4:c.164G>A, XM_011518945.3:c.164G>C, XM_011518945.3:c.164G>A, XM_011518945.2:c.164G>C, XM_011518945.2:c.164G>A, XM_011518945.1:c.164G>C, XM_011518945.1:c.164G>A, NM_033161.4:c.166G>C, NM_033161.4:c.166G>A, NM_033161.3:c.166G>C, NM_033161.3:c.166G>A, XM_011518944.3:c.139G>C, XM_011518944.3:c.139G>A, XM_011518944.2:c.139G>C, XM_011518944.2:c.139G>A, XM_011518944.1:c.139G>C, XM_011518944.1:c.139G>A, NM_001280790.2:c.37G>C, NM_001280790.2:c.37G>A, NM_001280790.1:c.37G>C, NM_001280790.1:c.37G>A, NM_001280788.2:c.121G>C, NM_001280788.2:c.121G>A, NM_001280788.1:c.121G>C, NM_001280788.1:c.121G>A, NM_001280793.2:c.-109G>C, NM_001280793.2:c.-109G>A, NM_001280793.1:c.-109G>C, NM_001280793.1:c.-109G>A, NM_001280792.2:c.166G>C, NM_001280792.2:c.166G>A, NM_001280792.1:c.166G>C, NM_001280792.1:c.166G>A, NM_001280789.2:c.166G>C, NM_001280789.2:c.166G>A, NM_001280789.1:c.166G>C, NM_001280789.1:c.166G>A, NM_001280791.2:c.37G>C, NM_001280791.2:c.37G>A, NM_001280791.1:c.37G>C, NM_001280791.1:c.37G>A, XM_047423806.1:c.139G>C, XM_047423806.1:c.139G>A, XM_047423804.1:c.262G>C, XM_047423804.1:c.262G>A, XM_047423805.1:c.262G>C, XM_047423805.1:c.262G>A, XM_047423807.1:c.139G>C, XM_047423807.1:c.139G>A, XM_047423803.1:c.262G>C, XM_047423803.1:c.262G>A, XM_047423802.1:c.262G>C, XM_047423802.1:c.262G>A, XM_047423808.1:c.37G>C, XM_047423808.1:c.37G>A, XP_011517247.1:p.Arg55Pro, XP_011517247.1:p.Arg55Gln, NP_149351.1:p.Asp56His, NP_149351.1:p.Asp56Asn, XP_011517246.1:p.Asp47His, XP_011517246.1:p.Asp47Asn, NP_001267719.1:p.Asp13His, NP_001267719.1:p.Asp13Asn, NP_001267717.1:p.Asp41His, NP_001267717.1:p.Asp41Asn, NP_001267721.1:p.Asp56His, NP_001267721.1:p.Asp56Asn, NP_001267718.1:p.Asp56His, NP_001267718.1:p.Asp56Asn, NP_001267720.1:p.Asp13His, NP_001267720.1:p.Asp13Asn, XP_047279762.1:p.Asp47His, XP_047279762.1:p.Asp47Asn, XP_047279760.1:p.Asp88His, XP_047279760.1:p.Asp88Asn, XP_047279761.1:p.Asp88His, XP_047279761.1:p.Asp88Asn, XP_047279763.1:p.Asp47His, XP_047279763.1:p.Asp47Asn, XP_047279759.1:p.Asp88His, XP_047279759.1:p.Asp88Asn, XP_047279758.1:p.Asp88His, XP_047279758.1:p.Asp88Asn, XP_047279764.1:p.Asp13His, XP_047279764.1:p.Asp13Asn

Select item 14433902568.

rs1443390256 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

Select item 14387755469.

rs1438775546 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133366608 (GRCh38)
9:136233484 (GRCh37)
Canonical SPDI:: NC_000009.12:133366607:T:C
Gene:: SURF4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.133366608T>C, NW_009646201.1:g.192702T>C, NW_003315925.1:g.192702T>C, NC_000009.11:g.136233484T>C, XM_011518945.4:c.301A>G, XM_011518945.3:c.301A>G, XM_011518945.2:c.301A>G, XM_011518945.1:c.301A>G, NM_033161.4:c.303A>G, NM_033161.3:c.303A>G, XM_011518944.3:c.276A>G, XM_011518944.2:c.276A>G, XM_011518944.1:c.276A>G, NM_001280790.2:c.174A>G, NM_001280790.1:c.174A>G, NM_001280788.2:c.258A>G, NM_001280788.1:c.258A>G, NM_001280792.2:c.303A>G, NM_001280792.1:c.303A>G, NM_001280789.2:c.303A>G, NM_001280789.1:c.303A>G, NM_001280791.2:c.174A>G, NM_001280791.1:c.174A>G, XM_047423806.1:c.276A>G, XM_047423804.1:c.399A>G, XM_047423805.1:c.399A>G, XM_047423807.1:c.276A>G, XM_047423803.1:c.399A>G, XM_047423802.1:c.399A>G, XM_047423808.1:c.174A>G, XP_011517247.1:p.Ser101Gly, NP_149351.1:p.Ile101Met, XP_011517246.1:p.Ile92Met, NP_001267719.1:p.Ile58Met, NP_001267717.1:p.Ile86Met, NP_001267721.1:p.Ile101Met, NP_001267718.1:p.Ile101Met, NP_001267720.1:p.Ile58Met, XP_047279762.1:p.Ile92Met, XP_047279760.1:p.Ile133Met, XP_047279761.1:p.Ile133Met, XP_047279763.1:p.Ile92Met, XP_047279759.1:p.Ile133Met, XP_047279758.1:p.Ile133Met, XP_047279764.1:p.Ile58Met

Select item 141952413810.

rs1419524138 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C
Chromosome:: no mapping
Canonical SPDI:

Select item 140988262411.

rs1409882624 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 9:133375937 (GRCh38)
9:136242808 (GRCh37)
Canonical SPDI:: NC_000009.12:133375936:C:A,NC_000009.12:133375936:C:G,NC_000009.12:133375936:C:T
Gene:: SURF4 (Varview), STKLD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,missense_variant,synonymous_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133375937C>A, NC_000009.12:g.133375937C>G, NC_000009.12:g.133375937C>T, NW_009646201.1:g.202031C>A, NW_009646201.1:g.202031C>G, NW_009646201.1:g.202031C>T, NW_003315925.1:g.202031C>A, NW_003315925.1:g.202031C>G, NW_003315925.1:g.202031C>T, NC_000009.11:g.136242808C>A, NC_000009.11:g.136242808C>G, NC_000009.11:g.136242808C>T, NM_033161.4:c.33G>T, NM_033161.4:c.33G>C, NM_033161.4:c.33G>A, NM_033161.3:c.33G>T, NM_033161.3:c.33G>C, NM_033161.3:c.33G>A, NM_001280790.2:c.-247G>T, NM_001280790.2:c.-247G>C, NM_001280790.2:c.-247G>A, NM_001280790.1:c.-247G>T, NM_001280790.1:c.-247G>C, NM_001280790.1:c.-247G>A, NM_001280791.2:c.-195G>T, NM_001280791.2:c.-195G>C, NM_001280791.2:c.-195G>A, NM_001280791.1:c.-195G>T, NM_001280791.1:c.-195G>C, NM_001280791.1:c.-195G>A, NM_001280793.2:c.-242G>T, NM_001280793.2:c.-242G>C, NM_001280793.2:c.-242G>A, NM_001280793.1:c.-242G>T, NM_001280793.1:c.-242G>C, NM_001280793.1:c.-242G>A, NM_001280792.2:c.33G>T, NM_001280792.2:c.33G>C, NM_001280792.2:c.33G>A, NM_001280792.1:c.33G>T, NM_001280792.1:c.33G>C, NM_001280792.1:c.33G>A, NM_001280789.2:c.33G>T, NM_001280789.2:c.33G>C, NM_001280789.2:c.33G>A, NM_001280789.1:c.33G>T, NM_001280789.1:c.33G>C, NM_001280789.1:c.33G>A, NP_149351.1:p.Glu11Asp, NP_149351.1:p.Glu11Asp, NP_001267721.1:p.Glu11Asp, NP_001267721.1:p.Glu11Asp, NP_001267718.1:p.Glu11Asp, NP_001267718.1:p.Glu11Asp

Select item 140377767212.

rs1403777672 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133367349 (GRCh38)
9:136234225 (GRCh37)
Canonical SPDI:: NC_000009.12:133367348:T:C
Gene:: SURF4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_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_000009.12:g.133367349T>C, NW_009646201.1:g.193443T>C, NW_003315925.1:g.193443T>C, NC_000009.11:g.136234225T>C, XM_011518945.4:c.143A>G, XM_011518945.3:c.143A>G, XM_011518945.2:c.143A>G, XM_011518945.1:c.143A>G, NM_033161.4:c.145A>G, NM_033161.3:c.145A>G, XM_011518944.3:c.118A>G, XM_011518944.2:c.118A>G, XM_011518944.1:c.118A>G, NM_001280790.2:c.16A>G, NM_001280790.1:c.16A>G, NM_001280788.2:c.100A>G, NM_001280788.1:c.100A>G, NM_001280793.2:c.-130A>G, NM_001280793.1:c.-130A>G, NM_001280792.2:c.145A>G, NM_001280792.1:c.145A>G, NM_001280789.2:c.145A>G, NM_001280789.1:c.145A>G, NM_001280791.2:c.16A>G, NM_001280791.1:c.16A>G, XM_047423806.1:c.118A>G, XM_047423804.1:c.241A>G, XM_047423805.1:c.241A>G, XM_047423807.1:c.118A>G, XM_047423802.1:c.241A>G, XM_047423803.1:c.241A>G, XM_047423808.1:c.16A>G, XP_011517247.1:p.Glu48Gly, NP_149351.1:p.Ser49Gly, XP_011517246.1:p.Ser40Gly, NP_001267719.1:p.Ser6Gly, NP_001267717.1:p.Ser34Gly, NP_001267721.1:p.Ser49Gly, NP_001267718.1:p.Ser49Gly, NP_001267720.1:p.Ser6Gly, XP_047279762.1:p.Ser40Gly, XP_047279760.1:p.Ser81Gly, XP_047279761.1:p.Ser81Gly, XP_047279763.1:p.Ser40Gly, XP_047279758.1:p.Ser81Gly, XP_047279759.1:p.Ser81Gly, XP_047279764.1:p.Ser6Gly

Select item 140047123813.

rs1400471238 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ATTGC
Chromosome:: no mapping
Canonical SPDI:

Select item 139151820414.

rs1391518204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:133367327 (GRCh38)
9:136234203 (GRCh37)
Canonical SPDI:: NC_000009.12:133367326:T:C
Gene:: SURF4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133367327T>C, NW_009646201.1:g.193421T>C, NW_003315925.1:g.193421T>C, NC_000009.11:g.136234203T>C, XM_011518945.4:c.165A>G, XM_011518945.3:c.165A>G, XM_011518945.2:c.165A>G, XM_011518945.1:c.165A>G, NM_033161.4:c.167A>G, NM_033161.3:c.167A>G, XM_011518944.3:c.140A>G, XM_011518944.2:c.140A>G, XM_011518944.1:c.140A>G, NM_001280790.2:c.38A>G, NM_001280790.1:c.38A>G, NM_001280788.2:c.122A>G, NM_001280788.1:c.122A>G, NM_001280793.2:c.-108A>G, NM_001280793.1:c.-108A>G, NM_001280792.2:c.167A>G, NM_001280792.1:c.167A>G, NM_001280789.2:c.167A>G, NM_001280789.1:c.167A>G, NM_001280791.2:c.38A>G, NM_001280791.1:c.38A>G, XM_047423806.1:c.140A>G, XM_047423804.1:c.263A>G, XM_047423805.1:c.263A>G, XM_047423807.1:c.140A>G, XM_047423803.1:c.263A>G, XM_047423802.1:c.263A>G, XM_047423808.1:c.38A>G, NP_149351.1:p.Asp56Gly, XP_011517246.1:p.Asp47Gly, NP_001267719.1:p.Asp13Gly, NP_001267717.1:p.Asp41Gly, NP_001267721.1:p.Asp56Gly, NP_001267718.1:p.Asp56Gly, NP_001267720.1:p.Asp13Gly, XP_047279762.1:p.Asp47Gly, XP_047279760.1:p.Asp88Gly, XP_047279761.1:p.Asp88Gly, XP_047279763.1:p.Asp47Gly, XP_047279759.1:p.Asp88Gly, XP_047279758.1:p.Asp88Gly, XP_047279764.1:p.Asp13Gly

Select item 138863347815.

rs1388633478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133367413 (GRCh38)
9:136234289 (GRCh37)
Canonical SPDI:: NC_000009.12:133367412:G:A
Gene:: SURF4 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,missense_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_000009.12:g.133367413G>A, NW_009646201.1:g.193507G>A, NW_003315925.1:g.193507G>A, NC_000009.11:g.136234289G>A, XM_011518945.4:c.79C>T, XM_011518945.3:c.79C>T, XM_011518945.2:c.79C>T, XM_011518945.1:c.79C>T, NM_033161.4:c.81C>T, NM_033161.3:c.81C>T, XM_011518944.3:c.54C>T, XM_011518944.2:c.54C>T, XM_011518944.1:c.54C>T, NM_001280790.2:c.-49C>T, NM_001280790.1:c.-49C>T, NM_001280788.2:c.36C>T, NM_001280788.1:c.36C>T, NM_001280793.2:c.-194C>T, NM_001280793.1:c.-194C>T, NM_001280792.2:c.81C>T, NM_001280792.1:c.81C>T, NM_001280789.2:c.81C>T, NM_001280789.1:c.81C>T, NM_001280791.2:c.-49C>T, NM_001280791.1:c.-49C>T, XM_047423806.1:c.54C>T, XM_047423804.1:c.177C>T, XM_047423805.1:c.177C>T, XM_047423807.1:c.54C>T, XM_047423803.1:c.177C>T, XM_047423802.1:c.177C>T, XM_047423808.1:c.-49C>T, XP_011517247.1:p.Arg27Cys

Select item 138343333416.

rs1383433334 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:133367275 (GRCh38)
9:136234151 (GRCh37)
Canonical SPDI:: NC_000009.12:133367274:G:T
Gene:: SURF4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133367275G>T, NW_009646201.1:g.193369G>T, NW_003315925.1:g.193369G>T, NC_000009.11:g.136234151G>T, XM_011518945.4:c.217C>A, XM_011518945.3:c.217C>A, XM_011518945.2:c.217C>A, XM_011518945.1:c.217C>A, NM_033161.4:c.219C>A, NM_033161.3:c.219C>A, XM_011518944.3:c.192C>A, XM_011518944.2:c.192C>A, XM_011518944.1:c.192C>A, NM_001280790.2:c.90C>A, NM_001280790.1:c.90C>A, NM_001280788.2:c.174C>A, NM_001280788.1:c.174C>A, NM_001280793.2:c.-56C>A, NM_001280793.1:c.-56C>A, NM_001280792.2:c.219C>A, NM_001280792.1:c.219C>A, NM_001280789.2:c.219C>A, NM_001280789.1:c.219C>A, NM_001280791.2:c.90C>A, NM_001280791.1:c.90C>A, XM_047423806.1:c.192C>A, XM_047423804.1:c.315C>A, XM_047423805.1:c.315C>A, XM_047423807.1:c.192C>A, XM_047423802.1:c.315C>A, XM_047423803.1:c.315C>A, XM_047423808.1:c.90C>A, XP_011517247.1:p.Leu73Ile, NP_149351.1:p.Asn73Lys, XP_011517246.1:p.Asn64Lys, NP_001267719.1:p.Asn30Lys, NP_001267717.1:p.Asn58Lys, NP_001267721.1:p.Asn73Lys, NP_001267718.1:p.Asn73Lys, NP_001267720.1:p.Asn30Lys, XP_047279762.1:p.Asn64Lys, XP_047279760.1:p.Asn105Lys, XP_047279761.1:p.Asn105Lys, XP_047279763.1:p.Asn64Lys, XP_047279758.1:p.Asn105Lys, XP_047279759.1:p.Asn105Lys, XP_047279764.1:p.Asn30Lys

Select item 137500934617.

rs1375009346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:133367320 (GRCh38)
9:136234196 (GRCh37)
Canonical SPDI:: NC_000009.12:133367319:G:C
Gene:: SURF4 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133367320G>C, NW_009646201.1:g.193414G>C, NW_003315925.1:g.193414G>C, NC_000009.11:g.136234196G>C, XM_011518945.4:c.172C>G, XM_011518945.3:c.172C>G, XM_011518945.2:c.172C>G, XM_011518945.1:c.172C>G, NM_033161.4:c.174C>G, NM_033161.3:c.174C>G, XM_011518944.3:c.147C>G, XM_011518944.2:c.147C>G, XM_011518944.1:c.147C>G, NM_001280790.2:c.45C>G, NM_001280790.1:c.45C>G, NM_001280788.2:c.129C>G, NM_001280788.1:c.129C>G, NM_001280793.2:c.-101C>G, NM_001280793.1:c.-101C>G, NM_001280792.2:c.174C>G, NM_001280792.1:c.174C>G, NM_001280789.2:c.174C>G, NM_001280789.1:c.174C>G, NM_001280791.2:c.45C>G, NM_001280791.1:c.45C>G, XM_047423806.1:c.147C>G, XM_047423804.1:c.270C>G, XM_047423807.1:c.147C>G, XM_047423805.1:c.270C>G, XM_047423803.1:c.270C>G, XM_047423808.1:c.45C>G, XM_047423802.1:c.270C>G, XP_011517247.1:p.Leu58Val

Select item 136463707518.

rs1364637075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:133366665 (GRCh38)
9:136233541 (GRCh37)
Canonical SPDI:: NC_000009.12:133366664:G:A
Gene:: SURF4 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000009.12:g.133366665G>A, NW_009646201.1:g.192759G>A, NW_003315925.1:g.192759G>A, NC_000009.11:g.136233541G>A, XM_011518945.4:c.244C>T, XM_011518945.3:c.244C>T, XM_011518945.2:c.244C>T, XM_011518945.1:c.244C>T, NM_033161.4:c.246C>T, NM_033161.3:c.246C>T, XM_011518944.3:c.219C>T, XM_011518944.2:c.219C>T, XM_011518944.1:c.219C>T, NM_001280790.2:c.117C>T, NM_001280790.1:c.117C>T, NM_001280788.2:c.201C>T, NM_001280788.1:c.201C>T, NM_001280792.2:c.246C>T, NM_001280792.1:c.246C>T, NM_001280789.2:c.246C>T, NM_001280789.1:c.246C>T, NM_001280791.2:c.117C>T, NM_001280791.1:c.117C>T, XM_047423806.1:c.219C>T, XM_047423804.1:c.342C>T, XM_047423805.1:c.342C>T, XM_047423807.1:c.219C>T, XM_047423803.1:c.342C>T, XM_047423802.1:c.342C>T, XM_047423808.1:c.117C>T, XP_011517247.1:p.Pro82Ser

Select item 135955962119.

rs1359559621 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 9:133365991 (GRCh38)
9:136232867 (GRCh37)
Canonical SPDI:: NC_000009.12:133365990:AAAAA:AAAA
Gene:: SURF4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,stop_gained,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.133365995del, NW_009646201.1:g.192089del, NW_003315925.1:g.192089del, NC_000009.11:g.136232871del, XM_011518945.4:c.348del, XM_011518945.3:c.348del, XM_011518945.2:c.348del, XM_011518945.1:c.348del, NM_033161.4:c.350del, NM_033161.3:c.350del, XM_011518944.3:c.323del, XM_011518944.2:c.323del, XM_011518944.1:c.323del, NM_001280790.2:c.221del, NM_001280790.1:c.221del, NM_001280788.2:c.305del, NM_001280788.1:c.305del, NM_001280793.2:c.-2del, NM_001280793.1:c.-2del, NM_001280792.2:c.350del, NM_001280792.1:c.350del, NM_001280789.2:c.350del, NM_001280789.1:c.350del, NM_001280791.2:c.221del, NM_001280791.1:c.221del, XM_047423806.1:c.323del, XM_047423804.1:c.446del, XM_047423805.1:c.446del, XM_047423807.1:c.323del, XM_047423802.1:c.446del, XM_047423803.1:c.446del, XM_047423808.1:c.221del, XP_011517247.1:p.Phe116fs, NP_149351.1:p.Phe116_Leu117insTer, XP_011517246.1:p.Phe107_Leu108insTer, NP_001267719.1:p.Phe73_Leu74insTer, NP_001267717.1:p.Phe101_Leu102insTer, NP_001267721.1:p.Phe116_Leu117insTer, NP_001267718.1:p.Phe116_Leu117insTer, NP_001267720.1:p.Phe73_Leu74insTer, XP_047279762.1:p.Phe107_Leu108insTer, XP_047279760.1:p.Phe148_Leu149insTer, XP_047279761.1:p.Phe148_Leu149insTer, XP_047279763.1:p.Phe107_Leu108insTer, XP_047279758.1:p.Phe148_Leu149insTer, XP_047279759.1:p.Phe148_Leu149insTer, XP_047279764.1:p.Phe73_Leu74insTer

Select item 134186061920.

rs1341860619 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>G
Chromosome:: no mapping
Canonical SPDI:

dbSNP

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