SNP Links for Protein (Select 578803750) - SNP

Links from Protein

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Select item 14774507291.

rs1477450729 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:119437299 (GRCh38)
2:120194875 (GRCh37)
Canonical SPDI:: NC_000002.12:119437298:TTTT:TTT
Gene:: TMEM37 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119437302del, NC_000002.11:g.120194878del, XM_006712300.4:c.174del, XM_006712300.3:c.174del, XM_006712300.2:c.174del, XM_006712300.1:c.174del, XM_011510659.3:c.471del, XM_011510659.2:c.471del, XM_011510659.1:c.471del, NM_183240.3:c.435del, NM_183240.2:c.435del, XM_047443445.1:c.174del, XM_047443446.1:c.174del, XP_006712363.1:p.Phe58fs, XP_011508961.1:p.Phe157fs, NP_899063.2:p.Phe145fs, XP_047299401.1:p.Phe58fs, XP_047299402.1:p.Phe58fs

Select item 14678948742.

rs1467894874 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119437192 (GRCh38)
2:120194768 (GRCh37)
Canonical SPDI:: NC_000002.12:119437191:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437192C>T, NC_000002.11:g.120194768C>T, XM_006712300.4:c.64C>T, XM_006712300.3:c.64C>T, XM_006712300.2:c.64C>T, XM_006712300.1:c.64C>T, XM_011510659.3:c.361C>T, XM_011510659.2:c.361C>T, XM_011510659.1:c.361C>T, NM_183240.3:c.325C>T, NM_183240.2:c.325C>T, XM_047443445.1:c.64C>T, XM_047443446.1:c.64C>T, XP_006712363.1:p.Leu22Phe, XP_011508961.1:p.Leu121Phe, NP_899063.2:p.Leu109Phe, XP_047299401.1:p.Leu22Phe, XP_047299402.1:p.Leu22Phe

Select item 14643066343.

rs1464306634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:119437420 (GRCh38)
2:120194996 (GRCh37)
Canonical SPDI:: NC_000002.12:119437419:A:G
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.119437420A>G, NC_000002.11:g.120194996A>G, XM_006712300.4:c.292A>G, XM_006712300.3:c.292A>G, XM_006712300.2:c.292A>G, XM_006712300.1:c.292A>G, XM_011510659.3:c.589A>G, XM_011510659.2:c.589A>G, XM_011510659.1:c.589A>G, NM_183240.3:c.553A>G, NM_183240.2:c.553A>G, XM_047443445.1:c.292A>G, XM_047443446.1:c.292A>G, XP_006712363.1:p.Ile98Val, XP_011508961.1:p.Ile197Val, NP_899063.2:p.Ile185Val, XP_047299401.1:p.Ile98Val, XP_047299402.1:p.Ile98Val

Select item 14549082164.

rs1454908216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:119437435 (GRCh38)
2:120195011 (GRCh37)
Canonical SPDI:: NC_000002.12:119437434:G:A
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437435G>A, NC_000002.11:g.120195011G>A, XM_006712300.4:c.307G>A, XM_006712300.3:c.307G>A, XM_006712300.2:c.307G>A, XM_006712300.1:c.307G>A, XM_011510659.3:c.604G>A, XM_011510659.2:c.604G>A, XM_011510659.1:c.604G>A, NM_183240.3:c.568G>A, NM_183240.2:c.568G>A, XM_047443445.1:c.307G>A, XM_047443446.1:c.307G>A, XP_006712363.1:p.Glu103Lys, XP_011508961.1:p.Glu202Lys, NP_899063.2:p.Glu190Lys, XP_047299401.1:p.Glu103Lys, XP_047299402.1:p.Glu103Lys

Select item 14457809175.

rs1445780917 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 2:119437373 (GRCh38)
2:120194949 (GRCh37)
Canonical SPDI:: NC_000002.12:119437369:CCTCCT:CCT
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCCT=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119437370CCT[1], NC_000002.11:g.120194946CCT[1], XM_006712300.4:c.242CCT[1], XM_006712300.3:c.242CCT[1], XM_006712300.2:c.242CCT[1], XM_006712300.1:c.242CCT[1], XM_011510659.3:c.539CCT[1], XM_011510659.2:c.539CCT[1], XM_011510659.1:c.539CCT[1], NM_183240.3:c.503CCT[1], NM_183240.2:c.503CCT[1], XM_047443445.1:c.242CCT[1], XM_047443446.1:c.242CCT[1], XP_006712363.1:p.Ser82del, XP_011508961.1:p.Ser181del, NP_899063.2:p.Ser169del, XP_047299401.1:p.Ser82del, XP_047299402.1:p.Ser82del

Select item 14402281926.

rs1440228192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119437404 (GRCh38)
2:120194980 (GRCh37)
Canonical SPDI:: NC_000002.12:119437403:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437404C>T, NC_000002.11:g.120194980C>T, XM_006712300.4:c.276C>T, XM_006712300.3:c.276C>T, XM_006712300.2:c.276C>T, XM_006712300.1:c.276C>T, XM_011510659.3:c.573C>T, XM_011510659.2:c.573C>T, XM_011510659.1:c.573C>T, NM_183240.3:c.537C>T, NM_183240.2:c.537C>T, XM_047443445.1:c.276C>T, XM_047443446.1:c.276C>T

Select item 14292259547.

rs1429225954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:119437198 (GRCh38)
2:120194774 (GRCh37)
Canonical SPDI:: NC_000002.12:119437197:G:C
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.119437198G>C, NC_000002.11:g.120194774G>C, XM_006712300.4:c.70G>C, XM_006712300.3:c.70G>C, XM_006712300.2:c.70G>C, XM_006712300.1:c.70G>C, XM_011510659.3:c.367G>C, XM_011510659.2:c.367G>C, XM_011510659.1:c.367G>C, NM_183240.3:c.331G>C, NM_183240.2:c.331G>C, XM_047443445.1:c.70G>C, XM_047443446.1:c.70G>C, XP_006712363.1:p.Val24Leu, XP_011508961.1:p.Val123Leu, NP_899063.2:p.Val111Leu, XP_047299401.1:p.Val24Leu, XP_047299402.1:p.Val24Leu

Select item 14267866648.

rs1426786664 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCC>- [Show Flanks]
Chromosome:: 2:119437171 (GRCh38)
2:120194747 (GRCh37)
Canonical SPDI:: NC_000002.12:119437167:GCCGCC:GCC
Gene:: TMEM37 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCCGCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119437168GCC[1], NC_000002.11:g.120194744GCC[1], XM_006712300.4:c.40GCC[1], XM_006712300.3:c.40GCC[1], XM_006712300.2:c.40GCC[1], XM_006712300.1:c.40GCC[1], XM_011510659.3:c.337GCC[1], XM_011510659.2:c.337GCC[1], XM_011510659.1:c.337GCC[1], NM_183240.3:c.301GCC[1], NM_183240.2:c.301GCC[1], XM_047443445.1:c.40GCC[1], XM_047443446.1:c.40GCC[1], XP_006712363.1:p.Ala15del, XP_011508961.1:p.Ala114del, NP_899063.2:p.Ala102del, XP_047299401.1:p.Ala15del, XP_047299402.1:p.Ala15del

Select item 14091258509.

rs1409125850 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119437352 (GRCh38)
2:120194928 (GRCh37)
Canonical SPDI:: NC_000002.12:119437351:T:C
Gene:: TMEM37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119437352T>C, NC_000002.11:g.120194928T>C, XM_006712300.4:c.224T>C, XM_006712300.3:c.224T>C, XM_006712300.2:c.224T>C, XM_006712300.1:c.224T>C, XM_011510659.3:c.521T>C, XM_011510659.2:c.521T>C, XM_011510659.1:c.521T>C, NM_183240.3:c.485T>C, NM_183240.2:c.485T>C, XM_047443445.1:c.224T>C, XM_047443446.1:c.224T>C, XP_006712363.1:p.Phe75Ser, XP_011508961.1:p.Phe174Ser, NP_899063.2:p.Phe162Ser, XP_047299401.1:p.Phe75Ser, XP_047299402.1:p.Phe75Ser

Select item 140051416810.

rs1400514168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:119437355 (GRCh38)
2:120194931 (GRCh37)
Canonical SPDI:: NC_000002.12:119437354:G:A
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437355G>A, NC_000002.11:g.120194931G>A, XM_006712300.4:c.227G>A, XM_006712300.3:c.227G>A, XM_006712300.2:c.227G>A, XM_006712300.1:c.227G>A, XM_011510659.3:c.524G>A, XM_011510659.2:c.524G>A, XM_011510659.1:c.524G>A, NM_183240.3:c.488G>A, NM_183240.2:c.488G>A, XM_047443445.1:c.227G>A, XM_047443446.1:c.227G>A, XP_006712363.1:p.Trp76Ter, XP_011508961.1:p.Trp175Ter, NP_899063.2:p.Trp163Ter, XP_047299401.1:p.Trp76Ter, XP_047299402.1:p.Trp76Ter

Select item 139710293611.

rs1397102936 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:119437434 (GRCh38)
2:120195010 (GRCh37)
Canonical SPDI:: NC_000002.12:119437433:G:A
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.119437434G>A, NC_000002.11:g.120195010G>A, XM_006712300.4:c.306G>A, XM_006712300.3:c.306G>A, XM_006712300.2:c.306G>A, XM_006712300.1:c.306G>A, XM_011510659.3:c.603G>A, XM_011510659.2:c.603G>A, XM_011510659.1:c.603G>A, NM_183240.3:c.567G>A, NM_183240.2:c.567G>A, XM_047443445.1:c.306G>A, XM_047443446.1:c.306G>A, XP_006712363.1:p.Trp102Ter, XP_011508961.1:p.Trp201Ter, NP_899063.2:p.Trp189Ter, XP_047299401.1:p.Trp102Ter, XP_047299402.1:p.Trp102Ter

Select item 139529639512.

rs1395296395 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119437135 (GRCh38)
2:120194711 (GRCh37)
Canonical SPDI:: NC_000002.12:119437134:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437135C>T, NC_000002.11:g.120194711C>T, XM_006712300.4:c.7C>T, XM_006712300.3:c.7C>T, XM_006712300.2:c.7C>T, XM_006712300.1:c.7C>T, XM_011510659.3:c.304C>T, XM_011510659.2:c.304C>T, XM_011510659.1:c.304C>T, NM_183240.3:c.268C>T, NM_183240.2:c.268C>T, XM_047443445.1:c.7C>T, XM_047443446.1:c.7C>T

Select item 139216440113.

rs1392164401 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:119437380 (GRCh38)
2:120194956 (GRCh37)
Canonical SPDI:: NC_000002.12:119437379:C:G
Gene:: TMEM37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000002.12:g.119437380C>G, NC_000002.11:g.120194956C>G, XM_006712300.4:c.252C>G, XM_006712300.3:c.252C>G, XM_006712300.2:c.252C>G, XM_006712300.1:c.252C>G, XM_011510659.3:c.549C>G, XM_011510659.2:c.549C>G, XM_011510659.1:c.549C>G, NM_183240.3:c.513C>G, NM_183240.2:c.513C>G, XM_047443445.1:c.252C>G, XM_047443446.1:c.252C>G

Select item 138879081814.

rs1388790818 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:119437280 (GRCh38)
2:120194856 (GRCh37)
Canonical SPDI:: NC_000002.12:119437279:CC:C
Gene:: TMEM37 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.119437281del, NC_000002.11:g.120194857del, XM_006712300.4:c.153del, XM_006712300.3:c.153del, XM_006712300.2:c.153del, XM_006712300.1:c.153del, XM_011510659.3:c.450del, XM_011510659.2:c.450del, XM_011510659.1:c.450del, NM_183240.3:c.414del, NM_183240.2:c.414del, XM_047443445.1:c.153del, XM_047443446.1:c.153del, XP_006712363.1:p.Ser52fs, XP_011508961.1:p.Ser151fs, NP_899063.2:p.Ser139fs, XP_047299401.1:p.Ser52fs, XP_047299402.1:p.Ser52fs

Select item 138233574515.

rs1382335745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119437157 (GRCh38)
2:120194733 (GRCh37)
Canonical SPDI:: NC_000002.12:119437156:T:C
Gene:: TMEM37 (Varview)
Functional Consequence:: 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_000002.12:g.119437157T>C, NC_000002.11:g.120194733T>C, XM_006712300.4:c.29T>C, XM_006712300.3:c.29T>C, XM_006712300.2:c.29T>C, XM_006712300.1:c.29T>C, XM_011510659.3:c.326T>C, XM_011510659.2:c.326T>C, XM_011510659.1:c.326T>C, NM_183240.3:c.290T>C, NM_183240.2:c.290T>C, XM_047443445.1:c.29T>C, XM_047443446.1:c.29T>C, XP_006712363.1:p.Leu10Ser, XP_011508961.1:p.Leu109Ser, NP_899063.2:p.Leu97Ser, XP_047299401.1:p.Leu10Ser, XP_047299402.1:p.Leu10Ser

Select item 136300317316.

rs1363003173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119437244 (GRCh38)
2:120194820 (GRCh37)
Canonical SPDI:: NC_000002.12:119437243:T:C
Gene:: TMEM37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437244T>C, NC_000002.11:g.120194820T>C, XM_006712300.4:c.116T>C, XM_006712300.3:c.116T>C, XM_006712300.2:c.116T>C, XM_006712300.1:c.116T>C, XM_011510659.3:c.413T>C, XM_011510659.2:c.413T>C, XM_011510659.1:c.413T>C, NM_183240.3:c.377T>C, NM_183240.2:c.377T>C, XM_047443445.1:c.116T>C, XM_047443446.1:c.116T>C, XP_006712363.1:p.Met39Thr, XP_011508961.1:p.Met138Thr, NP_899063.2:p.Met126Thr, XP_047299401.1:p.Met39Thr, XP_047299402.1:p.Met39Thr

Select item 135847795017.

rs1358477950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:119437366 (GRCh38)
2:120194942 (GRCh37)
Canonical SPDI:: NC_000002.12:119437365:A:T
Gene:: TMEM37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437366A>T, NC_000002.11:g.120194942A>T, XM_006712300.4:c.238A>T, XM_006712300.3:c.238A>T, XM_006712300.2:c.238A>T, XM_006712300.1:c.238A>T, XM_011510659.3:c.535A>T, XM_011510659.2:c.535A>T, XM_011510659.1:c.535A>T, NM_183240.3:c.499A>T, NM_183240.2:c.499A>T, XM_047443445.1:c.238A>T, XM_047443446.1:c.238A>T, XP_006712363.1:p.Thr80Ser, XP_011508961.1:p.Thr179Ser, NP_899063.2:p.Thr167Ser, XP_047299401.1:p.Thr80Ser, XP_047299402.1:p.Thr80Ser

Select item 135739580218.

rs1357395802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:119437305 (GRCh38)
2:120194881 (GRCh37)
Canonical SPDI:: NC_000002.12:119437304:G:A
Gene:: TMEM37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.119437305G>A, NC_000002.11:g.120194881G>A, XM_006712300.4:c.177G>A, XM_006712300.3:c.177G>A, XM_006712300.2:c.177G>A, XM_006712300.1:c.177G>A, XM_011510659.3:c.474G>A, XM_011510659.2:c.474G>A, XM_011510659.1:c.474G>A, NM_183240.3:c.438G>A, NM_183240.2:c.438G>A, XM_047443445.1:c.177G>A, XM_047443446.1:c.177G>A

Select item 133380562219.

rs1333805622 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:119437271 (GRCh38)
2:120194847 (GRCh37)
Canonical SPDI:: NC_000002.12:119437270:T:C
Gene:: TMEM37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437271T>C, NC_000002.11:g.120194847T>C, XM_006712300.4:c.143T>C, XM_006712300.3:c.143T>C, XM_006712300.2:c.143T>C, XM_006712300.1:c.143T>C, XM_011510659.3:c.440T>C, XM_011510659.2:c.440T>C, XM_011510659.1:c.440T>C, NM_183240.3:c.404T>C, NM_183240.2:c.404T>C, XM_047443445.1:c.143T>C, XM_047443446.1:c.143T>C, XP_006712363.1:p.Phe48Ser, XP_011508961.1:p.Phe147Ser, NP_899063.2:p.Phe135Ser, XP_047299401.1:p.Phe48Ser, XP_047299402.1:p.Phe48Ser

Select item 132695556620.

rs1326955566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:119437224 (GRCh38)
2:120194800 (GRCh37)
Canonical SPDI:: NC_000002.12:119437223:C:T
Gene:: TMEM37 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.119437224C>T, NC_000002.11:g.120194800C>T, XM_006712300.4:c.96C>T, XM_006712300.3:c.96C>T, XM_006712300.2:c.96C>T, XM_006712300.1:c.96C>T, XM_011510659.3:c.393C>T, XM_011510659.2:c.393C>T, XM_011510659.1:c.393C>T, NM_183240.3:c.357C>T, NM_183240.2:c.357C>T, XM_047443445.1:c.96C>T, XM_047443446.1:c.96C>T

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