SNP Links for Protein (Select 767994998) - SNP

Links from Protein

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Select item 14868751941.

rs1486875194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59697940 (GRCh38)
17:57775301 (GRCh37)
Canonical SPDI:: NC_000017.11:59697939:A:G
Gene:: PTRH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697940A>G, NC_000017.10:g.57775301A>G, NG_047043.1:g.83252A>G, NG_042064.1:g.14659T>C, NM_016077.5:c.39T>C, NM_016077.4:c.39T>C, NM_016077.3:c.39T>C, NM_001015509.3:c.42T>C, NM_001015509.2:c.42T>C, NM_001015509.1:c.42T>C, XM_011524887.3:c.39T>C, XM_011524887.2:c.39T>C, XM_011524887.1:c.39T>C

Select item 14742797922.

rs1474279792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:59697879 (GRCh38)
17:57775240 (GRCh37)
Canonical SPDI:: NC_000017.11:59697878:G:A,NC_000017.11:59697878:G:T
Gene:: PTRH2 (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.59697879G>A, NC_000017.11:g.59697879G>T, NC_000017.10:g.57775240G>A, NC_000017.10:g.57775240G>T, NG_047043.1:g.83191G>A, NG_047043.1:g.83191G>T, NG_042064.1:g.14720C>T, NG_042064.1:g.14720C>A, NM_016077.5:c.100C>T, NM_016077.5:c.100C>A, NM_016077.4:c.100C>T, NM_016077.4:c.100C>A, NM_016077.3:c.100C>T, NM_016077.3:c.100C>A, NM_001015509.3:c.103C>T, NM_001015509.3:c.103C>A, NM_001015509.2:c.103C>T, NM_001015509.2:c.103C>A, NM_001015509.1:c.103C>T, NM_001015509.1:c.103C>A, XM_011524887.3:c.100C>T, XM_011524887.3:c.100C>A, XM_011524887.2:c.100C>T, XM_011524887.2:c.100C>A, XM_011524887.1:c.100C>T, XM_011524887.1:c.100C>A, NP_057161.1:p.Arg34Ter, NP_001015509.1:p.Arg35Ter, XP_011523189.1:p.Arg34Ter

Select item 14701713633.

rs1470171363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697656 (GRCh38)
17:57775017 (GRCh37)
Canonical SPDI:: NC_000017.11:59697655:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697656C>T, NC_000017.10:g.57775017C>T, NG_047043.1:g.82968C>T, NG_042064.1:g.14943G>A, NM_016077.5:c.323G>A, NM_016077.4:c.323G>A, NM_016077.3:c.323G>A, NM_001015509.3:c.326G>A, NM_001015509.2:c.326G>A, NM_001015509.1:c.326G>A, XM_011524887.3:c.323G>A, XM_011524887.2:c.323G>A, XM_011524887.1:c.323G>A, NP_057161.1:p.Trp108Ter, NP_001015509.1:p.Trp109Ter, XP_011523189.1:p.Trp108Ter

Select item 14623166614.

rs1462316661 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59697804 (GRCh38)
17:57775165 (GRCh37)
Canonical SPDI:: NC_000017.11:59697803:A:G
Gene:: PTRH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697804A>G, NC_000017.10:g.57775165A>G, NG_047043.1:g.83116A>G, NG_042064.1:g.14795T>C, NM_016077.5:c.175T>C, NM_016077.4:c.175T>C, NM_016077.3:c.175T>C, NM_001015509.3:c.178T>C, NM_001015509.2:c.178T>C, NM_001015509.1:c.178T>C, XM_011524887.3:c.175T>C, XM_011524887.2:c.175T>C, XM_011524887.1:c.175T>C

Select item 14531691155.

rs1453169115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59697692 (GRCh38)
17:57775053 (GRCh37)
Canonical SPDI:: NC_000017.11:59697691:T:A
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59697692T>A, NC_000017.10:g.57775053T>A, NG_047043.1:g.83004T>A, NG_042064.1:g.14907A>T, NM_016077.5:c.287A>T, NM_016077.4:c.287A>T, NM_016077.3:c.287A>T, NM_001015509.3:c.290A>T, NM_001015509.2:c.290A>T, NM_001015509.1:c.290A>T, XM_011524887.3:c.287A>T, XM_011524887.2:c.287A>T, XM_011524887.1:c.287A>T, NP_057161.1:p.Gln96Leu, NP_001015509.1:p.Gln97Leu, XP_011523189.1:p.Gln96Leu

Select item 14526678006.

rs1452667800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697621 (GRCh38)
17:57774982 (GRCh37)
Canonical SPDI:: NC_000017.11:59697620:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.59697621C>T, NC_000017.10:g.57774982C>T, NG_047043.1:g.82933C>T, NG_042064.1:g.14978G>A, NM_016077.5:c.358G>A, NM_016077.4:c.358G>A, NM_016077.3:c.358G>A, NM_001015509.3:c.361G>A, NM_001015509.2:c.361G>A, NM_001015509.1:c.361G>A, XM_011524887.3:c.358G>A, XM_011524887.2:c.358G>A, XM_011524887.1:c.358G>A, NP_057161.1:p.Ala120Thr, NP_001015509.1:p.Ala121Thr, XP_011523189.1:p.Ala120Thr

Select item 14430973007.

rs1443097300 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697708 (GRCh38)
17:57775069 (GRCh37)
Canonical SPDI:: NC_000017.11:59697707:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697708C>T, NC_000017.10:g.57775069C>T, NG_047043.1:g.83020C>T, NG_042064.1:g.14891G>A, NM_016077.5:c.271G>A, NM_016077.4:c.271G>A, NM_016077.3:c.271G>A, NM_001015509.3:c.274G>A, NM_001015509.2:c.274G>A, NM_001015509.1:c.274G>A, XM_011524887.3:c.271G>A, XM_011524887.2:c.271G>A, XM_011524887.1:c.271G>A, NP_057161.1:p.Val91Ile, NP_001015509.1:p.Val92Ile, XP_011523189.1:p.Val91Ile

Select item 14421058708.

rs1442105870 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59697971 (GRCh38)
17:57775332 (GRCh37)
Canonical SPDI:: NC_000017.11:59697970:G:A
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697971G>A, NC_000017.10:g.57775332G>A, NG_047043.1:g.83283G>A, NG_042064.1:g.14628C>T, NM_016077.5:c.8C>T, NM_016077.4:c.8C>T, NM_016077.3:c.8C>T, NM_001015509.3:c.11C>T, NM_001015509.2:c.11C>T, NM_001015509.1:c.11C>T, XM_011524887.3:c.8C>T, XM_011524887.2:c.8C>T, XM_011524887.1:c.8C>T, NP_057161.1:p.Ser3Phe, NP_001015509.1:p.Ser4Phe, XP_011523189.1:p.Ser3Phe

Select item 14325553589.

rs1432555358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697954 (GRCh38)
17:57775315 (GRCh37)
Canonical SPDI:: NC_000017.11:59697953:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697954C>T, NC_000017.10:g.57775315C>T, NG_047043.1:g.83266C>T, NG_042064.1:g.14645G>A, NM_016077.5:c.25G>A, NM_016077.4:c.25G>A, NM_016077.3:c.25G>A, NM_001015509.3:c.28G>A, NM_001015509.2:c.28G>A, NM_001015509.1:c.28G>A, XM_011524887.3:c.25G>A, XM_011524887.2:c.25G>A, XM_011524887.1:c.25G>A, NP_057161.1:p.Glu9Lys, NP_001015509.1:p.Glu10Lys, XP_011523189.1:p.Glu9Lys

Select item 143225200810.

rs1432252008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:59697964 (GRCh38)
17:57775325 (GRCh37)
Canonical SPDI:: NC_000017.11:59697963:G:C
Gene:: PTRH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59697964G>C, NC_000017.10:g.57775325G>C, NG_047043.1:g.83276G>C, NG_042064.1:g.14635C>G, NM_016077.5:c.15C>G, NM_016077.4:c.15C>G, NM_016077.3:c.15C>G, NM_001015509.3:c.18C>G, NM_001015509.2:c.18C>G, NM_001015509.1:c.18C>G, XM_011524887.3:c.15C>G, XM_011524887.2:c.15C>G, XM_011524887.1:c.15C>G

Select item 141298125111.

rs1412981251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697887 (GRCh38)
17:57775248 (GRCh37)
Canonical SPDI:: NC_000017.11:59697886:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697887C>T, NC_000017.10:g.57775248C>T, NG_047043.1:g.83199C>T, NG_042064.1:g.14712G>A, NM_016077.5:c.92G>A, NM_016077.4:c.92G>A, NM_016077.3:c.92G>A, NM_001015509.3:c.95G>A, NM_001015509.2:c.95G>A, NM_001015509.1:c.95G>A, XM_011524887.3:c.92G>A, XM_011524887.2:c.92G>A, XM_011524887.1:c.92G>A, NP_057161.1:p.Trp31Ter, NP_001015509.1:p.Trp32Ter, XP_011523189.1:p.Trp31Ter

Select item 141000325512.

rs1410003255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697628 (GRCh38)
17:57774989 (GRCh37)
Canonical SPDI:: NC_000017.11:59697627:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000017.11:g.59697628C>T, NC_000017.10:g.57774989C>T, NG_047043.1:g.82940C>T, NG_042064.1:g.14971G>A, NM_016077.5:c.351G>A, NM_016077.4:c.351G>A, NM_016077.3:c.351G>A, NM_001015509.3:c.354G>A, NM_001015509.2:c.354G>A, NM_001015509.1:c.354G>A, XM_011524887.3:c.351G>A, XM_011524887.2:c.351G>A, XM_011524887.1:c.351G>A

Select item 140341643213.

rs1403416432 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59697468 (GRCh38)
17:57774829 (GRCh37)
Canonical SPDI:: NC_000017.11:59697467:T:C
Gene:: PTRH2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697468T>C, NC_000017.10:g.57774829T>C, NG_047043.1:g.82780T>C, NG_042064.1:g.15131A>G, NM_016077.5:c.511A>G, NM_016077.4:c.511A>G, NM_016077.3:c.511A>G, NM_001015509.3:c.514A>G, NM_001015509.2:c.514A>G, NM_001015509.1:c.514A>G, XM_011524887.3:c.511A>G, XM_011524887.2:c.511A>G, XM_011524887.1:c.511A>G, NP_057161.1:p.Lys171Glu, NP_001015509.1:p.Lys172Glu, XP_011523189.1:p.Lys171Glu

Select item 139651552814.

rs1396515528 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59697952 (GRCh38)
17:57775313 (GRCh37)
Canonical SPDI:: NC_000017.11:59697951:T:C
Gene:: PTRH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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=0.000071/2 (TOMMO)
HGVS:: NC_000017.11:g.59697952T>C, NC_000017.10:g.57775313T>C, NG_047043.1:g.83264T>C, NG_042064.1:g.14647A>G, NM_016077.5:c.27A>G, NM_016077.4:c.27A>G, NM_016077.3:c.27A>G, NM_001015509.3:c.30A>G, NM_001015509.2:c.30A>G, NM_001015509.1:c.30A>G, XM_011524887.3:c.27A>G, XM_011524887.2:c.27A>G, XM_011524887.1:c.27A>G

Select item 139357728015.

rs1393577280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:59697799 (GRCh38)
17:57775160 (GRCh37)
Canonical SPDI:: NC_000017.11:59697798:T:A
Gene:: PTRH2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697799T>A, NC_000017.10:g.57775160T>A, NG_047043.1:g.83111T>A, NG_042064.1:g.14800A>T, NM_016077.5:c.180A>T, NM_016077.4:c.180A>T, NM_016077.3:c.180A>T, NM_001015509.3:c.183A>T, NM_001015509.2:c.183A>T, NM_001015509.1:c.183A>T, XM_011524887.3:c.180A>T, XM_011524887.2:c.180A>T, XM_011524887.1:c.180A>T

Select item 137157606016.

rs1371576060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697609 (GRCh38)
17:57774970 (GRCh37)
Canonical SPDI:: NC_000017.11:59697608:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697609C>T, NC_000017.10:g.57774970C>T, NG_047043.1:g.82921C>T, NG_042064.1:g.14990G>A, NM_016077.5:c.370G>A, NM_016077.4:c.370G>A, NM_016077.3:c.370G>A, NM_001015509.3:c.373G>A, NM_001015509.2:c.373G>A, NM_001015509.1:c.373G>A, XM_011524887.3:c.370G>A, XM_011524887.2:c.370G>A, XM_011524887.1:c.370G>A, NP_057161.1:p.Glu124Lys, NP_001015509.1:p.Glu125Lys, XP_011523189.1:p.Glu124Lys

Select item 137089210017.

rs1370892100 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59697720 (GRCh38)
17:57775081 (GRCh37)
Canonical SPDI:: NC_000017.11:59697719:A:G
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59697720A>G, NC_000017.10:g.57775081A>G, NG_047043.1:g.83032A>G, NG_042064.1:g.14879T>C, NM_016077.5:c.259T>C, NM_016077.4:c.259T>C, NM_016077.3:c.259T>C, NM_001015509.3:c.262T>C, NM_001015509.2:c.262T>C, NM_001015509.1:c.262T>C, XM_011524887.3:c.259T>C, XM_011524887.2:c.259T>C, XM_011524887.1:c.259T>C, NP_057161.1:p.Ser87Pro, NP_001015509.1:p.Ser88Pro, XP_011523189.1:p.Ser87Pro

Select item 136959388918.

rs1369593889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59697801 (GRCh38)
17:57775162 (GRCh37)
Canonical SPDI:: NC_000017.11:59697800:C:T
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59697801C>T, NC_000017.10:g.57775162C>T, NG_047043.1:g.83113C>T, NG_042064.1:g.14798G>A, NM_016077.5:c.178G>A, NM_016077.4:c.178G>A, NM_016077.3:c.178G>A, NM_001015509.3:c.181G>A, NM_001015509.2:c.181G>A, NM_001015509.1:c.181G>A, XM_011524887.3:c.178G>A, XM_011524887.2:c.178G>A, XM_011524887.1:c.178G>A, NP_057161.1:p.Gly60Arg, NP_001015509.1:p.Gly61Arg, XP_011523189.1:p.Gly60Arg

Select item 136203701719.

rs1362037017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:59697926 (GRCh38)
17:57775287 (GRCh37)
Canonical SPDI:: NC_000017.11:59697925:C:G
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697926C>G, NC_000017.10:g.57775287C>G, NG_047043.1:g.83238C>G, NG_042064.1:g.14673G>C, NM_016077.5:c.53G>C, NM_016077.4:c.53G>C, NM_016077.3:c.53G>C, NM_001015509.3:c.56G>C, NM_001015509.2:c.56G>C, NM_001015509.1:c.56G>C, XM_011524887.3:c.53G>C, XM_011524887.2:c.53G>C, XM_011524887.1:c.53G>C, NP_057161.1:p.Gly18Ala, NP_001015509.1:p.Gly19Ala, XP_011523189.1:p.Gly18Ala

Select item 136180164920.

rs1361801649 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59697969 (GRCh38)
17:57775330 (GRCh37)
Canonical SPDI:: NC_000017.11:59697968:T:C
Gene:: PTRH2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.59697969T>C, NC_000017.10:g.57775330T>C, NG_047043.1:g.83281T>C, NG_042064.1:g.14630A>G, NM_016077.5:c.10A>G, NM_016077.4:c.10A>G, NM_016077.3:c.10A>G, NM_001015509.3:c.13A>G, NM_001015509.2:c.13A>G, NM_001015509.1:c.13A>G, XM_011524887.3:c.10A>G, XM_011524887.2:c.10A>G, XM_011524887.1:c.10A>G, NP_057161.1:p.Lys4Glu, NP_001015509.1:p.Lys5Glu, XP_011523189.1:p.Lys4Glu

dbSNP

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