SNP Links for Protein (Select 32996731) - SNP

Links from Protein

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Select item 14902425191.

rs1490242519 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:206507665 (GRCh38)
1:206680998 (GRCh37)
Canonical SPDI:: NC_000001.11:206507664:G:A,NC_000001.11:206507664:G:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206507665G>A, NC_000001.11:g.206507665G>T, NW_003871057.1:g.498519G>A, NW_003871057.1:g.498519G>T, NG_029062.2:g.5120G>A, NG_029062.2:g.5120G>T, NM_182663.4:c.63G>A, NM_182663.4:c.63G>T, NM_182663.3:c.63G>A, NM_182663.3:c.63G>T, NM_182663.2:c.63G>A, NM_182663.2:c.63G>T, NM_182664.4:c.63G>A, NM_182664.4:c.63G>T, NM_182664.3:c.63G>A, NM_182664.3:c.63G>T, NM_182664.2:c.63G>A, NM_182664.2:c.63G>T, NC_000001.10:g.206680998G>A, NC_000001.10:g.206680998G>T, NM_031437.1:c.57G>A, NM_031437.1:c.57G>T

Select item 14854735382.

rs1485473538 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206585275 (GRCh38)
1:206758607 (GRCh37)
Canonical SPDI:: NC_000001.11:206585274:A:G
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206585275A>G, NW_003871057.1:g.576129A>G, NG_029062.2:g.82730A>G, NM_182663.4:c.1084A>G, NM_182663.3:c.1084A>G, NM_182663.2:c.1084A>G, NM_182665.4:c.625A>G, NM_182665.3:c.625A>G, NM_182665.2:c.625A>G, NC_000001.10:g.206758607A>G, NM_031437.1:c.1078A>G, NP_872604.1:p.Asn362Asp, NP_872606.1:p.Asn209Asp

Select item 14847326653.

rs1484732665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:206507884 (GRCh38)
1:206681217 (GRCh37)
Canonical SPDI:: NC_000001.11:206507883:G:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206507884G>T, NW_003871057.1:g.498738G>T, NG_029062.2:g.5339G>T, NM_182663.4:c.282G>T, NM_182663.3:c.282G>T, NM_182663.2:c.282G>T, NM_182664.4:c.282G>T, NM_182664.3:c.282G>T, NM_182664.2:c.282G>T, NC_000001.10:g.206681217G>T, NM_031437.1:c.276G>T

Select item 14699784544.

rs1469978454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:206586971 (GRCh38)
1:206760303 (GRCh37)
Canonical SPDI:: NC_000001.11:206586970:C:A,NC_000001.11:206586970:C:T
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206586971C>A, NC_000001.11:g.206586971C>T, NW_003871057.1:g.577825C>A, NW_003871057.1:g.577825C>T, NG_029062.2:g.84426C>A, NG_029062.2:g.84426C>T, NM_182663.4:c.1250C>A, NM_182663.4:c.1250C>T, NM_182663.3:c.1250C>A, NM_182663.3:c.1250C>T, NM_182663.2:c.1250C>A, NM_182663.2:c.1250C>T, NM_182664.4:c.*123C>A, NM_182664.4:c.*123C>T, NM_182664.3:c.*123C>A, NM_182664.3:c.*123C>T, NM_182664.2:c.*123C>A, NM_182664.2:c.*123C>T, NM_182665.4:c.791C>A, NM_182665.4:c.791C>T, NM_182665.3:c.791C>A, NM_182665.3:c.791C>T, NM_182665.2:c.791C>A, NM_182665.2:c.791C>T, NC_000001.10:g.206760303C>A, NC_000001.10:g.206760303C>T, NP_872604.1:p.Pro417His, NP_872604.1:p.Pro417Leu, NP_872606.1:p.Pro264His, NP_872606.1:p.Pro264Leu

Select item 14673131285.

rs1467313128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206538269 (GRCh38)
1:206711598 (GRCh37)
Canonical SPDI:: NC_000001.11:206538268:C:T
Gene:: RASSF5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206538269C>T, NW_003871057.1:g.529123C>T, NG_029062.2:g.35724C>T, NM_182663.4:c.555C>T, NM_182663.3:c.555C>T, NM_182663.2:c.555C>T, NM_182664.4:c.555C>T, NM_182664.3:c.555C>T, NM_182664.2:c.555C>T, NC_000001.10:g.206711598C>T, NM_031437.1:c.549C>T

Select item 14603771616.

rs1460377161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206508031 (GRCh38)
1:206681364 (GRCh37)
Canonical SPDI:: NC_000001.11:206508030:G:A
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206508031G>A, NW_003871057.1:g.498885G>A, NG_029062.2:g.5486G>A, NM_182663.4:c.429G>A, NM_182663.3:c.429G>A, NM_182663.2:c.429G>A, NM_182664.4:c.429G>A, NM_182664.3:c.429G>A, NM_182664.2:c.429G>A, NC_000001.10:g.206681364G>A, NM_031437.1:c.423G>A

Select item 14596094457.

rs1459609445 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:206507924 (GRCh38)
1:206681257 (GRCh37)
Canonical SPDI:: NC_000001.11:206507923:G:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206507924G>T, NW_003871057.1:g.498778G>T, NG_029062.2:g.5379G>T, NM_182663.4:c.322G>T, NM_182663.3:c.322G>T, NM_182663.2:c.322G>T, NM_182664.4:c.322G>T, NM_182664.3:c.322G>T, NM_182664.2:c.322G>T, NC_000001.10:g.206681257G>T, NM_031437.1:c.316G>T, NP_872604.1:p.Glu108Ter, NP_872605.1:p.Glu108Ter

Select item 14582044558.

rs1458204455 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:206584599 (GRCh38)
1:206757931 (GRCh37)
Canonical SPDI:: NC_000001.11:206584598:C:G
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206584599C>G, NW_003871057.1:g.575453C>G, NG_029062.2:g.82054C>G, NM_182663.4:c.903C>G, NM_182663.3:c.903C>G, NM_182663.2:c.903C>G, NM_182664.4:c.903C>G, NM_182664.3:c.903C>G, NM_182664.2:c.903C>G, NM_182665.4:c.444C>G, NM_182665.3:c.444C>G, NM_182665.2:c.444C>G, NC_000001.10:g.206757931C>G, NM_031437.1:c.897C>G

Select item 14480516739.

rs1448051673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:206586940 (GRCh38)
1:206760272 (GRCh37)
Canonical SPDI:: NC_000001.11:206586939:G:A,NC_000001.11:206586939:G:C
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.206586940G>A, NC_000001.11:g.206586940G>C, NW_003871057.1:g.577794G>A, NW_003871057.1:g.577794G>C, NG_029062.2:g.84395G>A, NG_029062.2:g.84395G>C, NM_182663.4:c.1219G>A, NM_182663.4:c.1219G>C, NM_182663.3:c.1219G>A, NM_182663.3:c.1219G>C, NM_182663.2:c.1219G>A, NM_182663.2:c.1219G>C, NM_182664.4:c.*92G>A, NM_182664.4:c.*92G>C, NM_182664.3:c.*92G>A, NM_182664.3:c.*92G>C, NM_182664.2:c.*92G>A, NM_182664.2:c.*92G>C, NM_182665.4:c.760G>A, NM_182665.4:c.760G>C, NM_182665.3:c.760G>A, NM_182665.3:c.760G>C, NM_182665.2:c.760G>A, NM_182665.2:c.760G>C, NC_000001.10:g.206760272G>A, NC_000001.10:g.206760272G>C, NP_872604.1:p.Glu407Lys, NP_872604.1:p.Glu407Gln, NP_872606.1:p.Glu254Lys, NP_872606.1:p.Glu254Gln

Select item 143105831910.

rs1431058319 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206507637 (GRCh38)
1:206680970 (GRCh37)
Canonical SPDI:: NC_000001.11:206507636:C:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206507637C>T, NW_003871057.1:g.498491C>T, NG_029062.2:g.5092C>T, NM_182663.4:c.35C>T, NM_182663.3:c.35C>T, NM_182663.2:c.35C>T, NM_182664.4:c.35C>T, NM_182664.3:c.35C>T, NM_182664.2:c.35C>T, NC_000001.10:g.206680970C>T, NM_031437.1:c.29C>T, NP_872604.1:p.Pro12Leu, NP_872605.1:p.Pro12Leu

Select item 143044593911.

rs1430445939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206507939 (GRCh38)
1:206681272 (GRCh37)
Canonical SPDI:: NC_000001.11:206507938:C:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206507939C>T, NW_003871057.1:g.498793C>T, NG_029062.2:g.5394C>T, NM_182663.4:c.337C>T, NM_182663.3:c.337C>T, NM_182663.2:c.337C>T, NM_182664.4:c.337C>T, NM_182664.3:c.337C>T, NM_182664.2:c.337C>T, NC_000001.10:g.206681272C>T, NM_031437.1:c.331C>T, NP_872604.1:p.Pro113Ser, NP_872605.1:p.Pro113Ser

Select item 142583641712.

rs1425836417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:206507853 (GRCh38)
1:206681186 (GRCh37)
Canonical SPDI:: NC_000001.11:206507852:G:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.206507853G>T, NW_003871057.1:g.498707G>T, NG_029062.2:g.5308G>T, NM_182663.4:c.251G>T, NM_182663.3:c.251G>T, NM_182663.2:c.251G>T, NM_182664.4:c.251G>T, NM_182664.3:c.251G>T, NM_182664.2:c.251G>T, NC_000001.10:g.206681186G>T, NM_031437.1:c.245G>T, NP_872604.1:p.Arg84Leu, NP_872605.1:p.Arg84Leu

Select item 142149238913.

rs1421492389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:206584530 (GRCh38)
1:206757862 (GRCh37)
Canonical SPDI:: NC_000001.11:206584529:A:G
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.206584530A>G, NW_003871057.1:g.575384A>G, NG_029062.2:g.81985A>G, NM_182663.4:c.834A>G, NM_182663.3:c.834A>G, NM_182663.2:c.834A>G, NM_182664.4:c.834A>G, NM_182664.3:c.834A>G, NM_182664.2:c.834A>G, NM_182665.4:c.375A>G, NM_182665.3:c.375A>G, NM_182665.2:c.375A>G, NC_000001.10:g.206757862A>G, NM_031437.1:c.828A>G

Select item 141677484814.

rs1416774848 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:206507642 (GRCh38)
1:206680975 (GRCh37)
Canonical SPDI:: NC_000001.11:206507641:C:A,NC_000001.11:206507641:C:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.206507642C>A, NC_000001.11:g.206507642C>T, NW_003871057.1:g.498496C>A, NW_003871057.1:g.498496C>T, NG_029062.2:g.5097C>A, NG_029062.2:g.5097C>T, NM_182663.4:c.40C>A, NM_182663.4:c.40C>T, NM_182663.3:c.40C>A, NM_182663.3:c.40C>T, NM_182663.2:c.40C>A, NM_182663.2:c.40C>T, NM_182664.4:c.40C>A, NM_182664.4:c.40C>T, NM_182664.3:c.40C>A, NM_182664.3:c.40C>T, NM_182664.2:c.40C>A, NM_182664.2:c.40C>T, NC_000001.10:g.206680975C>A, NC_000001.10:g.206680975C>T, NM_031437.1:c.34C>A, NM_031437.1:c.34C>T, NP_872604.1:p.Pro14Thr, NP_872604.1:p.Pro14Ser, NP_872605.1:p.Pro14Thr, NP_872605.1:p.Pro14Ser

Select item 141433771215.

rs1414337712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:206584522 (GRCh38)
1:206757854 (GRCh37)
Canonical SPDI:: NC_000001.11:206584521:A:C
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206584522A>C, NW_003871057.1:g.575376A>C, NG_029062.2:g.81977A>C, NM_182663.4:c.826A>C, NM_182663.3:c.826A>C, NM_182663.2:c.826A>C, NM_182664.4:c.826A>C, NM_182664.3:c.826A>C, NM_182664.2:c.826A>C, NM_182665.4:c.367A>C, NM_182665.3:c.367A>C, NM_182665.2:c.367A>C, NC_000001.10:g.206757854A>C, NM_031437.1:c.820A>C, NP_872604.1:p.Lys276Gln, NP_872605.1:p.Lys276Gln, NP_872606.1:p.Lys123Gln

Select item 141314539116.

rs1413145391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206507782 (GRCh38)
1:206681115 (GRCh37)
Canonical SPDI:: NC_000001.11:206507781:C:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.206507782C>T, NW_003871057.1:g.498636C>T, NG_029062.2:g.5237C>T, NM_182663.4:c.180C>T, NM_182663.3:c.180C>T, NM_182663.2:c.180C>T, NM_182664.4:c.180C>T, NM_182664.3:c.180C>T, NM_182664.2:c.180C>T, NC_000001.10:g.206681115C>T, NM_031437.1:c.174C>T

Select item 140281889617.

rs1402818896 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:206507703 (GRCh38)
1:206681036 (GRCh37)
Canonical SPDI:: NC_000001.11:206507702:C:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.206507703C>T, NW_003871057.1:g.498557C>T, NG_029062.2:g.5158C>T, NM_182663.4:c.101C>T, NM_182663.3:c.101C>T, NM_182663.2:c.101C>T, NM_182664.4:c.101C>T, NM_182664.3:c.101C>T, NM_182664.2:c.101C>T, NC_000001.10:g.206681036C>T, NM_031437.1:c.95C>T, NP_872604.1:p.Pro34Leu, NP_872605.1:p.Pro34Leu

Select item 140007804018.

rs1400078040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:206585181 (GRCh38)
1:206758513 (GRCh37)
Canonical SPDI:: NC_000001.11:206585180:G:A
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.206585181G>A, NW_003871057.1:g.576035G>A, NG_029062.2:g.82636G>A, NM_182663.4:c.990G>A, NM_182663.3:c.990G>A, NM_182663.2:c.990G>A, NM_182665.4:c.531G>A, NM_182665.3:c.531G>A, NM_182665.2:c.531G>A, NC_000001.10:g.206758513G>A, NM_031437.1:c.984G>A

Select item 139871202319.

rs1398712023 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 1:206508027 (GRCh38)
1:206681360 (GRCh37)
Canonical SPDI:: NC_000001.11:206508026:G:C,NC_000001.11:206508026:G:T
Gene:: RASSF5 (Varview), LOC124904493 (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.206508027G>C, NC_000001.11:g.206508027G>T, NW_003871057.1:g.498881G>C, NW_003871057.1:g.498881G>T, NG_029062.2:g.5482G>C, NG_029062.2:g.5482G>T, NM_182663.4:c.425G>C, NM_182663.4:c.425G>T, NM_182663.3:c.425G>C, NM_182663.3:c.425G>T, NM_182663.2:c.425G>C, NM_182663.2:c.425G>T, NM_182664.4:c.425G>C, NM_182664.4:c.425G>T, NM_182664.3:c.425G>C, NM_182664.3:c.425G>T, NM_182664.2:c.425G>C, NM_182664.2:c.425G>T, NC_000001.10:g.206681360G>C, NC_000001.10:g.206681360G>T, NM_031437.1:c.419G>C, NM_031437.1:c.419G>T, NP_872604.1:p.Arg142Pro, NP_872604.1:p.Arg142Leu, NP_872605.1:p.Arg142Pro, NP_872605.1:p.Arg142Leu

Select item 139609477920.

rs1396094779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:206586862 (GRCh38)
1:206760194 (GRCh37)
Canonical SPDI:: NC_000001.11:206586861:C:G
Gene:: EIF2D (Varview), RASSF5 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000023/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.206586862C>G, NW_003871057.1:g.577716C>G, NG_029062.2:g.84317C>G, NM_182663.4:c.1141C>G, NM_182663.3:c.1141C>G, NM_182663.2:c.1141C>G, NM_182664.4:c.*14C>G, NM_182664.3:c.*14C>G, NM_182664.2:c.*14C>G, NM_182665.4:c.682C>G, NM_182665.3:c.682C>G, NM_182665.2:c.682C>G, NC_000001.10:g.206760194C>G, NP_872604.1:p.Leu381Val, NP_872606.1:p.Leu228Val

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