SNP Links for Protein (Select 1145522038) - SNP

Links from Protein

Items: 1 to 20 of 227

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Select item 14904572501.

rs1490457250 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:35716208 (GRCh38)
1:36181809 (GRCh37)
Canonical SPDI:: NC_000001.11:35716207:A:G
Gene:: C1orf216 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35716208A>G, NC_000001.10:g.36181809A>G, NM_001348691.2:c.114T>C, NM_001348691.1:c.114T>C, NM_152374.2:c.114T>C, NM_152374.1:c.114T>C

Select item 14900164652.

rs1490016465 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:35715846 (GRCh38)
1:36181447 (GRCh37)
Canonical SPDI:: NC_000001.11:35715845:C:T
Gene:: C1orf216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.35715846C>T, NC_000001.10:g.36181447C>T, NG_060501.1:g.439C>T, NM_001348691.2:c.476G>A, NM_001348691.1:c.476G>A, NM_152374.2:c.476G>A, NM_152374.1:c.476G>A, NP_001335620.1:p.Arg159His, NP_689587.1:p.Arg159His

Select item 14868335123.

rs1486833512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:35716202 (GRCh38)
1:36181803 (GRCh37)
Canonical SPDI:: NC_000001.11:35716201:C:T
Gene:: C1orf216 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35716202C>T, NC_000001.10:g.36181803C>T, NM_001348691.2:c.120G>A, NM_001348691.1:c.120G>A, NM_152374.2:c.120G>A, NM_152374.1:c.120G>A

Select item 14801400994.

rs1480140099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:35716291 (GRCh38)
1:36181892 (GRCh37)
Canonical SPDI:: NC_000001.11:35716290:C:A,NC_000001.11:35716290:C:T
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.35716291C>A, NC_000001.11:g.35716291C>T, NC_000001.10:g.36181892C>A, NC_000001.10:g.36181892C>T, NM_001348691.2:c.31G>T, NM_001348691.2:c.31G>A, NM_001348691.1:c.31G>T, NM_001348691.1:c.31G>A, NM_152374.2:c.31G>T, NM_152374.2:c.31G>A, NM_152374.1:c.31G>T, NM_152374.1:c.31G>A, NP_001335620.1:p.Gly11Trp, NP_001335620.1:p.Gly11Arg, NP_689587.1:p.Gly11Trp, NP_689587.1:p.Gly11Arg

Select item 14754093065.

rs1475409306 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:35715721 (GRCh38)
1:36181322 (GRCh37)
Canonical SPDI:: NC_000001.11:35715720:T:G
Gene:: C1orf216 (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=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.35715721T>G, NC_000001.10:g.36181322T>G, NG_060501.1:g.314T>G, NM_001348691.2:c.601A>C, NM_001348691.1:c.601A>C, NM_152374.2:c.601A>C, NM_152374.1:c.601A>C, NP_001335620.1:p.Ser201Arg, NP_689587.1:p.Ser201Arg

Select item 14706195326.

rs1470619532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:35715884 (GRCh38)
1:36181485 (GRCh37)
Canonical SPDI:: NC_000001.11:35715883:T:G
Gene:: C1orf216 (Varview)
Functional Consequence:: synonymous_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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.35715884T>G, NC_000001.10:g.36181485T>G, NG_060501.1:g.477T>G, NM_001348691.2:c.438A>C, NM_001348691.1:c.438A>C, NM_152374.2:c.438A>C, NM_152374.1:c.438A>C

Select item 14670564077.

rs1467056407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:35715832 (GRCh38)
1:36181433 (GRCh37)
Canonical SPDI:: NC_000001.11:35715831:C:A,NC_000001.11:35715831:C:T
Gene:: C1orf216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.35715832C>A, NC_000001.11:g.35715832C>T, NC_000001.10:g.36181433C>A, NC_000001.10:g.36181433C>T, NG_060501.1:g.425C>A, NG_060501.1:g.425C>T, NM_001348691.2:c.490G>T, NM_001348691.2:c.490G>A, NM_001348691.1:c.490G>T, NM_001348691.1:c.490G>A, NM_152374.2:c.490G>T, NM_152374.2:c.490G>A, NM_152374.1:c.490G>T, NM_152374.1:c.490G>A, NP_001335620.1:p.Glu164Ter, NP_001335620.1:p.Glu164Lys, NP_689587.1:p.Glu164Ter, NP_689587.1:p.Glu164Lys

Select item 14524585258.

rs1452458525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:35716127 (GRCh38)
1:36181728 (GRCh37)
Canonical SPDI:: NC_000001.11:35716126:G:A,NC_000001.11:35716126:G:C
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35716127G>A, NC_000001.11:g.35716127G>C, NC_000001.10:g.36181728G>A, NC_000001.10:g.36181728G>C, NM_001348691.2:c.195C>T, NM_001348691.2:c.195C>G, NM_001348691.1:c.195C>T, NM_001348691.1:c.195C>G, NM_152374.2:c.195C>T, NM_152374.2:c.195C>G, NM_152374.1:c.195C>T, NM_152374.1:c.195C>G

Select item 14514304669.

rs1451430466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:35715695 (GRCh38)
1:36181296 (GRCh37)
Canonical SPDI:: NC_000001.11:35715694:C:A,NC_000001.11:35715694:C:G
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.35715695C>A, NC_000001.11:g.35715695C>G, NC_000001.10:g.36181296C>A, NC_000001.10:g.36181296C>G, NG_060501.1:g.288C>A, NG_060501.1:g.288C>G, NM_001348691.2:c.627G>T, NM_001348691.2:c.627G>C, NM_001348691.1:c.627G>T, NM_001348691.1:c.627G>C, NM_152374.2:c.627G>T, NM_152374.2:c.627G>C, NM_152374.1:c.627G>T, NM_152374.1:c.627G>C

Select item 144906941110.

rs1449069411 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:35716155 (GRCh38)
1:36181756 (GRCh37)
Canonical SPDI:: NC_000001.11:35716154:A:G,NC_000001.11:35716154:A:T
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.35716155A>G, NC_000001.11:g.35716155A>T, NC_000001.10:g.36181756A>G, NC_000001.10:g.36181756A>T, NM_001348691.2:c.167T>C, NM_001348691.2:c.167T>A, NM_001348691.1:c.167T>C, NM_001348691.1:c.167T>A, NM_152374.2:c.167T>C, NM_152374.2:c.167T>A, NM_152374.1:c.167T>C, NM_152374.1:c.167T>A, NP_001335620.1:p.Ile56Thr, NP_001335620.1:p.Ile56Asn, NP_689587.1:p.Ile56Thr, NP_689587.1:p.Ile56Asn

Select item 143795592011.

rs1437955920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:35716138 (GRCh38)
1:36181739 (GRCh37)
Canonical SPDI:: NC_000001.11:35716137:A:G
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.35716138A>G, NC_000001.10:g.36181739A>G, NM_001348691.2:c.184T>C, NM_001348691.1:c.184T>C, NM_152374.2:c.184T>C, NM_152374.1:c.184T>C, NP_001335620.1:p.Ser62Pro, NP_689587.1:p.Ser62Pro

Select item 143147371812.

rs1431473718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:35715760 (GRCh38)
1:36181361 (GRCh37)
Canonical SPDI:: NC_000001.11:35715759:G:A
Gene:: C1orf216 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35715760G>A, NC_000001.10:g.36181361G>A, NG_060501.1:g.353G>A, NM_001348691.2:c.562C>T, NM_001348691.1:c.562C>T, NM_152374.2:c.562C>T, NM_152374.1:c.562C>T, NP_001335620.1:p.Gln188Ter, NP_689587.1:p.Gln188Ter

Select item 143019343213.

rs1430193432 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:35716102 (GRCh38)
1:36181703 (GRCh37)
Canonical SPDI:: NC_000001.11:35716101:G:A
Gene:: C1orf216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35716102G>A, NC_000001.10:g.36181703G>A, NM_001348691.2:c.220C>T, NM_001348691.1:c.220C>T, NM_152374.2:c.220C>T, NM_152374.1:c.220C>T, NP_001335620.1:p.Pro74Ser, NP_689587.1:p.Pro74Ser

Select item 141605441514.

rs1416054415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:35715957 (GRCh38)
1:36181558 (GRCh37)
Canonical SPDI:: NC_000001.11:35715956:C:G
Gene:: C1orf216 (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=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.35715957C>G, NC_000001.10:g.36181558C>G, NM_001348691.2:c.365G>C, NM_001348691.1:c.365G>C, NM_152374.2:c.365G>C, NM_152374.1:c.365G>C, NP_001335620.1:p.Ser122Thr, NP_689587.1:p.Ser122Thr

Select item 141519568315.

rs1415195683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:35715736 (GRCh38)
1:36181337 (GRCh37)
Canonical SPDI:: NC_000001.11:35715735:C:A,NC_000001.11:35715735:C:T
Gene:: C1orf216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.35715736C>A, NC_000001.11:g.35715736C>T, NC_000001.10:g.36181337C>A, NC_000001.10:g.36181337C>T, NG_060501.1:g.329C>A, NG_060501.1:g.329C>T, NM_001348691.2:c.586G>T, NM_001348691.2:c.586G>A, NM_001348691.1:c.586G>T, NM_001348691.1:c.586G>A, NM_152374.2:c.586G>T, NM_152374.2:c.586G>A, NM_152374.1:c.586G>T, NM_152374.1:c.586G>A, NP_001335620.1:p.Ala196Ser, NP_001335620.1:p.Ala196Thr, NP_689587.1:p.Ala196Ser, NP_689587.1:p.Ala196Thr

Select item 141170606116.

rs1411706061 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:35715891 (GRCh38)
1:36181492 (GRCh37)
Canonical SPDI:: NC_000001.11:35715890:A:G
Gene:: C1orf216 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000068/3 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35715891A>G, NC_000001.10:g.36181492A>G, NG_060501.1:g.484A>G, NM_001348691.2:c.431T>C, NM_001348691.1:c.431T>C, NM_152374.2:c.431T>C, NM_152374.1:c.431T>C, NP_001335620.1:p.Leu144Pro, NP_689587.1:p.Leu144Pro

Select item 140986834017.

rs1409868340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:35715641 (GRCh38)
1:36181242 (GRCh37)
Canonical SPDI:: NC_000001.11:35715640:G:A
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000001.11:g.35715641G>A, NC_000001.10:g.36181242G>A, NG_060501.1:g.234G>A, NM_001348691.2:c.681C>T, NM_001348691.1:c.681C>T, NM_152374.2:c.681C>T, NM_152374.1:c.681C>T

Select item 140715250418.

rs1407152504 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:35715742 (GRCh38)
1:36181343 (GRCh37)
Canonical SPDI:: NC_000001.11:35715741:G:A
Gene:: C1orf216 (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=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.35715742G>A, NC_000001.10:g.36181343G>A, NG_060501.1:g.335G>A, NM_001348691.2:c.580C>T, NM_001348691.1:c.580C>T, NM_152374.2:c.580C>T, NM_152374.1:c.580C>T, NP_001335620.1:p.Gln194Ter, NP_689587.1:p.Gln194Ter

Select item 140595301119.

rs1405953011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:35716237 (GRCh38)
1:36181838 (GRCh37)
Canonical SPDI:: NC_000001.11:35716236:G:C
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.35716237G>C, NC_000001.10:g.36181838G>C, NM_001348691.2:c.85C>G, NM_001348691.1:c.85C>G, NM_152374.2:c.85C>G, NM_152374.1:c.85C>G, NP_001335620.1:p.Pro29Ala, NP_689587.1:p.Pro29Ala

Select item 140136748420.

rs1401367484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:35715802 (GRCh38)
1:36181403 (GRCh37)
Canonical SPDI:: NC_000001.11:35715801:T:A,NC_000001.11:35715801:T:C
Gene:: C1orf216 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.35715802T>A, NC_000001.11:g.35715802T>C, NC_000001.10:g.36181403T>A, NC_000001.10:g.36181403T>C, NG_060501.1:g.395T>A, NG_060501.1:g.395T>C, NM_001348691.2:c.520A>T, NM_001348691.2:c.520A>G, NM_001348691.1:c.520A>T, NM_001348691.1:c.520A>G, NM_152374.2:c.520A>T, NM_152374.2:c.520A>G, NM_152374.1:c.520A>T, NM_152374.1:c.520A>G, NP_001335620.1:p.Met174Leu, NP_001335620.1:p.Met174Val, NP_689587.1:p.Met174Leu, NP_689587.1:p.Met174Val

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