SNP Links for Protein (Select 612149753) - SNP

Links from Protein

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Select item 14907079681.

rs1490707968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:13223384 (GRCh38)
1:13474741 (GRCh37)
Canonical SPDI:: NC_000001.11:13223383:G:A,NC_000001.11:13223383:G:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/1 (GnomAD)
HGVS:: NC_000001.11:g.13223384G>A, NC_000001.11:g.13223384G>T, NC_000001.10:g.13474741G>A, NC_000001.10:g.13474741G>T, NW_012132914.1:g.377724G>A, NW_012132914.1:g.377724G>T, NW_015495298.1:g.189145G>A, NW_015495298.1:g.189145G>T, NT_187517.1:g.166852G>A, NT_187517.1:g.166852G>T, NM_001099850.2:c.1388C>T, NM_001099850.2:c.1388C>A, NM_001099850.1:c.1388C>T, NM_001099850.1:c.1388C>A, NM_001100631.1:c.1394C>T, NM_001100631.1:c.1394C>A, NM_001100631.2:c.1388C>T, NM_001100631.2:c.1388C>A, NM_001291370.1:c.1388C>T, NM_001291370.1:c.1388C>A, NP_001093320.2:p.Ser463Leu, NP_001093320.2:p.Ser463Ter

Select item 14896619842.

rs1489661984 has merged into rs756946341 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:13223579 (GRCh38)
1:13474936 (GRCh37)
Canonical SPDI:: NC_000001.11:13223578:A:C,NC_000001.11:13223578:A:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.00002/1 (ExAC)
HGVS:: NC_000001.11:g.13223579A>C, NC_000001.11:g.13223579A>G, NC_000001.10:g.13474936A>C, NC_000001.10:g.13474936A>G, NW_012132914.1:g.377919A>C, NW_012132914.1:g.377919A>G, NW_015495298.1:g.189340A>C, NW_015495298.1:g.189340A>G, NT_187517.1:g.167047A>C, NT_187517.1:g.167047A>G, NM_001099850.2:c.1193T>G, NM_001099850.2:c.1193T>C, NM_001099850.1:c.1193T>G, NM_001099850.1:c.1193T>C, NM_001100631.1:c.1199T>G, NM_001100631.1:c.1199T>C, NM_001100631.2:c.1193T>G, NM_001100631.2:c.1193T>C, NM_001291370.1:c.1193T>G, NM_001291370.1:c.1193T>C, NP_001093320.2:p.Leu398Arg, NP_001093320.2:p.Leu398Pro

Select item 14895046973.

rs1489504697 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13225058 (GRCh38)
1:13036597 (GRCh37)
Canonical SPDI:: NC_000001.11:13225057:T:C
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.13225058T>C, NW_012132914.1:g.379398T>C, NW_015495298.1:g.190877T>C, NC_000001.10:g.13036597A>G, NT_187517.1:g.168526T>C, NM_001099850.2:c.663A>G, NM_001099850.1:c.663A>G, NM_001291370.1:c.663A>G, NM_001100631.1:c.669A>G, NM_001100631.2:c.663A>G, NP_001093320.2:p.Ile221Met

Select item 14884917404.

rs1488491740 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:13225218 (GRCh38)
1:13036437 (GRCh37)
Canonical SPDI:: NC_000001.11:13225217:G:A,NC_000001.11:13225217:G:C
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.13225218G>A, NC_000001.11:g.13225218G>C, NW_012132914.1:g.379558G>A, NW_012132914.1:g.379558G>C, NW_015495298.1:g.191037G>A, NW_015495298.1:g.191037G>C, NC_000001.10:g.13036437C>T, NC_000001.10:g.13036437C>G, NT_187517.1:g.168686G>A, NT_187517.1:g.168686G>C, NM_001099850.2:c.503C>T, NM_001099850.2:c.503C>G, NM_001099850.1:c.503C>T, NM_001099850.1:c.503C>G, NM_001291370.1:c.503C>T, NM_001291370.1:c.503C>G, NM_001100631.1:c.509C>T, NM_001100631.1:c.509C>G, NM_001100631.2:c.503C>T, NM_001100631.2:c.503C>G, NP_001093320.2:p.Ser168Phe, NP_001093320.2:p.Ser168Cys

Select item 14871382485.

rs1487138248 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13226001 (GRCh38)
1:13035654 (GRCh37)
Canonical SPDI:: NC_000001.11:13226000:A:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/4 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000001.11:g.13226001A>G, NW_012132914.1:g.380341A>G, NW_015495298.1:g.191820A>G, NC_000001.10:g.13035654T>C, NT_187517.1:g.169469A>G, NM_001099850.2:c.106T>C, NM_001099850.1:c.106T>C, NM_001291370.1:c.106T>C, NM_001100631.1:c.112T>C, NM_001100631.2:c.106T>C, NP_001093320.2:p.Phe36Leu

Select item 14855301686.

rs1485530168 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:13225964 (GRCh38)
1:13035691 (GRCh37)
Canonical SPDI:: NC_000001.11:13225963:C:A,NC_000001.11:13225963:C:G,NC_000001.11:13225963:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.13225964C>A, NC_000001.11:g.13225964C>G, NC_000001.11:g.13225964C>T, NW_012132914.1:g.380304C>A, NW_012132914.1:g.380304C>G, NW_012132914.1:g.380304C>T, NW_015495298.1:g.191783C>A, NW_015495298.1:g.191783C>G, NW_015495298.1:g.191783C>T, NC_000001.10:g.13035691G>T, NC_000001.10:g.13035691G>C, NC_000001.10:g.13035691G>A, NT_187517.1:g.169432C>A, NT_187517.1:g.169432C>G, NT_187517.1:g.169432C>T, NM_001099850.2:c.143G>T, NM_001099850.2:c.143G>C, NM_001099850.2:c.143G>A, NM_001099850.1:c.143G>T, NM_001099850.1:c.143G>C, NM_001099850.1:c.143G>A, NM_001291370.1:c.143G>T, NM_001291370.1:c.143G>C, NM_001291370.1:c.143G>A, NM_001100631.1:c.149G>T, NM_001100631.1:c.149G>C, NM_001100631.1:c.149G>A, NM_001100631.2:c.143G>T, NM_001100631.2:c.143G>C, NM_001100631.2:c.143G>A, NP_001093320.2:p.Arg48Leu, NP_001093320.2:p.Arg48Pro, NP_001093320.2:p.Arg48His

Select item 14846436027.

rs1484643602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13223395 (GRCh38)
1:13474752 (GRCh37)
Canonical SPDI:: NC_000001.11:13223394:G:A
Gene:: PRAMEF18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.13223395G>A, NC_000001.10:g.13474752G>A, NW_012132914.1:g.377735G>A, NW_015495298.1:g.189156G>A, NT_187517.1:g.166863G>A, NM_001099850.2:c.1377C>T, NM_001099850.1:c.1377C>T, NM_001100631.1:c.1383C>T, NM_001100631.2:c.1377C>T, NM_001291370.1:c.1377C>T

Select item 14842302278.

rs1484230227 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13225028 (GRCh38)
1:13036627 (GRCh37)
Canonical SPDI:: NC_000001.11:13225027:C:T
Gene:: PRAMEF18 (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_000001.11:g.13225028C>T, NW_012132914.1:g.379368C>T, NW_015495298.1:g.190847C>T, NC_000001.10:g.13036627G>A, NT_187517.1:g.168496C>T, NM_001099850.2:c.693G>A, NM_001099850.1:c.693G>A, NM_001291370.1:c.693G>A, NM_001100631.1:c.699G>A, NM_001100631.2:c.693G>A, NP_001093320.2:p.Met231Ile

Select item 14841224029.

rs1484122402 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13224876 (GRCh38)
1:13036779 (GRCh37)
Canonical SPDI:: NC_000001.11:13224875:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000242/34 (GnomAD)
HGVS:: NC_000001.11:g.13224876C>T, NW_012132914.1:g.379216C>T, NW_015495298.1:g.190695C>T, NC_000001.10:g.13036779G>A, NT_187517.1:g.168344C>T, NM_001099850.2:c.845G>A, NM_001099850.1:c.845G>A, NM_001291370.1:c.845G>A, NM_001100631.1:c.851G>A, NM_001100631.2:c.845G>A, NP_001093320.2:p.Gly282Asp

Select item 148268854110.

rs1482688541 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:13225214 (GRCh38)
1:13036439 (GRCh37)
Canonical SPDI:: NC_000001.11:13225213:CCC:CC
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000001.11:g.13225216del, NW_012132914.1:g.379556del, NW_015495298.1:g.191035del, NC_000001.10:g.13036441del, NT_187517.1:g.168684del, NM_001099850.2:c.507del, NM_001099850.1:c.507del, NM_001291370.1:c.507del, NM_001100631.1:c.513del, NM_001100631.2:c.507del, NP_001093320.2:p.Trp170fs

Select item 148118497611.

rs1481184976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:13225906 (GRCh38)
1:13035749 (GRCh37)
Canonical SPDI:: NC_000001.11:13225905:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000001.11:g.13225906C>T, NW_012132914.1:g.380246C>T, NW_015495298.1:g.191725C>T, NC_000001.10:g.13035749G>A, NT_187517.1:g.169374C>T, NM_001099850.2:c.201G>A, NM_001099850.1:c.201G>A, NM_001291370.1:c.201G>A, NM_001100631.1:c.207G>A, NM_001100631.2:c.201G>A

Select item 148053709412.

rs1480537094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13223831 (GRCh38)
1:13475188 (GRCh37)
Canonical SPDI:: NC_000001.11:13223830:G:A
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.13223831G>A, NC_000001.10:g.13475188G>A, NW_012132914.1:g.378171G>A, NW_015495298.1:g.189592G>A, NT_187517.1:g.167299G>A, NM_001099850.2:c.941C>T, NM_001099850.1:c.941C>T, NM_001100631.1:c.947C>T, NM_001100631.2:c.941C>T, NM_001291370.1:c.941C>T, NP_001093320.2:p.Pro314Leu

Select item 147916327213.

rs1479163272 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:13223504 (GRCh38)
1:13474861 (GRCh37)
Canonical SPDI:: NC_000001.11:13223503:C:A,NC_000001.11:13223503:C:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13223504C>A, NC_000001.11:g.13223504C>T, NC_000001.10:g.13474861C>A, NC_000001.10:g.13474861C>T, NW_012132914.1:g.377844C>A, NW_012132914.1:g.377844C>T, NW_015495298.1:g.189265C>A, NW_015495298.1:g.189265C>T, NT_187517.1:g.166972C>A, NT_187517.1:g.166972C>T, NM_001099850.2:c.1268G>T, NM_001099850.2:c.1268G>A, NM_001099850.1:c.1268G>T, NM_001099850.1:c.1268G>A, NM_001291370.1:c.1268G>T, NM_001291370.1:c.1268G>A, NM_001100631.1:c.1274G>T, NM_001100631.1:c.1274G>A, NM_001100631.2:c.1268G>T, NM_001100631.2:c.1268G>A, NP_001093320.2:p.Gly423Val, NP_001093320.2:p.Gly423Asp

Select item 147889748714.

rs1478897487 has merged into rs752090525 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13223857 (GRCh38)
1:13475214 (GRCh37)
Canonical SPDI:: NC_000001.11:13223856:T:C
Gene:: PRAMEF18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (ExAC)
HGVS:: NC_000001.11:g.13223857T>C, NC_000001.10:g.13475214T>C, NW_012132914.1:g.378197T>C, NW_015495298.1:g.189618T>C, NT_187517.1:g.167325T>C, NM_001099850.2:c.915A>G, NM_001099850.1:c.915A>G, NM_001291370.1:c.915A>G, NM_001100631.1:c.921A>G, NM_001100631.2:c.915A>G

Select item 147877548715.

rs1478775487 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:13223474 (GRCh38)
1:13474831 (GRCh37)
Canonical SPDI:: NC_000001.11:13223473:A:G
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00017/2 (ALFA)
C=0.00012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13223474A>G, NC_000001.10:g.13474831A>G, NW_012132914.1:g.377814A>G, NW_015495298.1:g.189235A>G, NT_187517.1:g.166942A>G, NM_001099850.2:c.1298T>C, NM_001099850.1:c.1298T>C, NM_001291370.1:c.1298T>C, NM_001100631.1:c.1304T>C, NM_001100631.2:c.1298T>C, NP_001093320.2:p.Leu433Pro

Select item 147758429716.

rs1477584297 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13225178 (GRCh38)
1:13036477 (GRCh37)
Canonical SPDI:: NC_000001.11:13225177:G:A
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.13225178G>A, NW_012132914.1:g.379518G>A, NW_015495298.1:g.190997G>A, NC_000001.10:g.13036477C>T, NT_187517.1:g.168646G>A, NM_001099850.2:c.543C>T, NM_001099850.1:c.543C>T, NM_001291370.1:c.543C>T, NM_001100631.1:c.549C>T, NM_001100631.2:c.543C>T

Select item 147657295417.

rs1476572954 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:13225973 (GRCh38)
1:13035682 (GRCh37)
Canonical SPDI:: NC_000001.11:13225972:G:C,NC_000001.11:13225972:G:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.13225973G>C, NC_000001.11:g.13225973G>T, NW_012132914.1:g.380313G>C, NW_012132914.1:g.380313G>T, NW_015495298.1:g.191792G>C, NW_015495298.1:g.191792G>T, NC_000001.10:g.13035682C>G, NC_000001.10:g.13035682C>A, NT_187517.1:g.169441G>C, NT_187517.1:g.169441G>T, NM_001099850.2:c.134C>G, NM_001099850.2:c.134C>A, NM_001099850.1:c.134C>G, NM_001099850.1:c.134C>A, NM_001291370.1:c.134C>G, NM_001291370.1:c.134C>A, NM_001100631.1:c.140C>G, NM_001100631.1:c.140C>A, NM_001100631.2:c.134C>G, NM_001100631.2:c.134C>A, NP_001093320.2:p.Thr45Ser, NP_001093320.2:p.Thr45Asn

Select item 147609680618.

rs1476096806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:13226010 (GRCh38)
1:13035645 (GRCh37)
Canonical SPDI:: NC_000001.11:13226009:T:C
Gene:: PRAMEF18 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.13226010T>C, NW_012132914.1:g.380350T>C, NW_015495298.1:g.191829T>C, NC_000001.10:g.13035645A>G, NT_187517.1:g.169478T>C, NM_001099850.2:c.97A>G, NM_001099850.1:c.97A>G, NM_001291370.1:c.97A>G, NM_001100631.1:c.103A>G, NM_001100631.2:c.97A>G, NP_001093320.2:p.Arg33Gly

Select item 147547946819.

rs1475479468 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:13223638 (GRCh38)
1:13474995 (GRCh37)
Canonical SPDI:: NC_000001.11:13223637:G:T
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.00008/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.13223638G>T, NC_000001.10:g.13474995G>T, NW_012132914.1:g.377978G>T, NW_015495298.1:g.189399G>T, NT_187517.1:g.167106G>T, NM_001099850.2:c.1134C>A, NM_001099850.1:c.1134C>A, NM_001100631.1:c.1140C>A, NM_001100631.2:c.1134C>A, NM_001291370.1:c.1134C>A, NP_001093320.2:p.Asn378Lys

Select item 147514458420.

rs1475144584 has merged into rs758925584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:13223747 (GRCh38)
1:13475104 (GRCh37)
Canonical SPDI:: NC_000001.11:13223746:G:A
Gene:: PRAMEF18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.00002/4 (GnomAD_exomes)
A=0.000029/3 (ExAC)
HGVS:: NC_000001.11:g.13223747G>A, NC_000001.10:g.13475104G>A, NW_012132914.1:g.378087G>A, NW_015495298.1:g.189508G>A, NT_187517.1:g.167215G>A, NM_001099850.2:c.1025C>T, NM_001099850.1:c.1025C>T, NM_001100631.1:c.1031C>T, NM_001100631.2:c.1025C>T, NM_001291370.1:c.1025C>T, NP_001093320.2:p.Ala342Val

dbSNP

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