SNP Links for Protein (Select 548923696) - SNP

Links from Protein

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Select item 14901591581.

rs1490159158 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40234031 (GRCh38)
3:40275522 (GRCh37)
Canonical SPDI:: NC_000003.12:40234030:A:G
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40234031A>G, NC_000003.11:g.40275522A>G, NM_015460.4:c.2078A>G, NM_015460.3:c.2078A>G, NM_015460.2:c.2078A>G, XM_011533575.2:c.2078A>G, XM_011533575.1:c.2078A>G, NR_104316.2:n.2379A>G, NR_104316.1:n.2328A>G, NM_001284425.2:c.1811A>G, NM_001284425.1:c.1811A>G, NM_001284423.2:c.2078A>G, NM_001284423.1:c.2078A>G, NM_001284426.2:c.1517A>G, NM_001284426.1:c.1517A>G, NP_056275.2:p.Gln693Arg, XP_011531877.1:p.Gln693Arg, NP_001271354.1:p.Gln604Arg, NP_001271352.1:p.Gln693Arg, NP_001271355.1:p.Gln506Arg

Select item 14866418822.

rs1486641882 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:40190117 (GRCh38)
3:40231608 (GRCh37)
Canonical SPDI:: NC_000003.12:40190116:C:A
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40190117C>A, NC_000003.11:g.40231608C>A, NM_015460.4:c.1319C>A, NM_015460.3:c.1319C>A, NM_015460.2:c.1319C>A, XM_011533575.2:c.1319C>A, XM_011533575.1:c.1319C>A, NR_104316.2:n.1657C>A, NR_104316.1:n.1606C>A, NM_001284425.2:c.1052C>A, NM_001284425.1:c.1052C>A, NM_001284424.2:c.1319C>A, NM_001284424.1:c.1319C>A, NM_001284423.2:c.1319C>A, NM_001284423.1:c.1319C>A, NM_001284426.2:c.758C>A, NM_001284426.1:c.758C>A, NP_056275.2:p.Pro440Gln, XP_011531877.1:p.Pro440Gln, NP_001271354.1:p.Pro351Gln, NP_001271353.1:p.Pro440Gln, NP_001271352.1:p.Pro440Gln, NP_001271355.1:p.Pro253Gln

Select item 14830667923.

rs1483066792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:40166896 (GRCh38)
3:40208387 (GRCh37)
Canonical SPDI:: NC_000003.12:40166895:G:T
Gene:: MYRIP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.40166896G>T, NC_000003.11:g.40208387G>T, NM_015460.4:c.601G>T, NM_015460.3:c.601G>T, NM_015460.2:c.601G>T, XM_011533575.2:c.601G>T, XM_011533575.1:c.601G>T, NR_104316.2:n.939G>T, NR_104316.1:n.888G>T, NM_001284425.2:c.334G>T, NM_001284425.1:c.334G>T, NM_001284424.2:c.601G>T, NM_001284424.1:c.601G>T, NM_001284423.2:c.601G>T, NM_001284423.1:c.601G>T, NM_001284426.2:c.40G>T, NM_001284426.1:c.40G>T, NP_056275.2:p.Ala201Ser, XP_011531877.1:p.Ala201Ser, NP_001271354.1:p.Ala112Ser, NP_001271353.1:p.Ala201Ser, NP_001271352.1:p.Ala201Ser, NP_001271355.1:p.Ala14Ser

Select item 14824004384.

rs1482400438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40169956 (GRCh38)
3:40211447 (GRCh37)
Canonical SPDI:: NC_000003.12:40169955:C:T
Gene:: MYRIP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.40169956C>T, NC_000003.11:g.40211447C>T, NM_015460.4:c.736C>T, NM_015460.3:c.736C>T, NM_015460.2:c.736C>T, XM_011533575.2:c.736C>T, XM_011533575.1:c.736C>T, NR_104316.2:n.1074C>T, NR_104316.1:n.1023C>T, NM_001284425.2:c.469C>T, NM_001284425.1:c.469C>T, NM_001284424.2:c.736C>T, NM_001284424.1:c.736C>T, NM_001284423.2:c.736C>T, NM_001284423.1:c.736C>T, NM_001284426.2:c.175C>T, NM_001284426.1:c.175C>T, NP_056275.2:p.Arg246Ter, XP_011531877.1:p.Arg246Ter, NP_001271354.1:p.Arg157Ter, NP_001271353.1:p.Arg246Ter, NP_001271352.1:p.Arg246Ter, NP_001271355.1:p.Arg59Ter

Select item 14817521295.

rs1481752129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40250279 (GRCh38)
3:40291770 (GRCh37)
Canonical SPDI:: NC_000003.12:40250278:C:T
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40250279C>T, NC_000003.11:g.40291770C>T, NM_015460.4:c.2320C>T, NM_015460.3:c.2320C>T, NM_015460.2:c.2320C>T, XM_011533575.2:c.2320C>T, XM_011533575.1:c.2320C>T, NR_104316.2:n.2621C>T, NR_104316.1:n.2570C>T, NM_001284425.2:c.2053C>T, NM_001284425.1:c.2053C>T, NM_001284424.2:c.2125C>T, NM_001284424.1:c.2125C>T, NM_001284423.2:c.2320C>T, NM_001284423.1:c.2320C>T, NM_001284426.2:c.1759C>T, NM_001284426.1:c.1759C>T, NP_056275.2:p.Pro774Ser, XP_011531877.1:p.Pro774Ser, NP_001271354.1:p.Pro685Ser, NP_001271353.1:p.Pro709Ser, NP_001271352.1:p.Pro774Ser, NP_001271355.1:p.Pro587Ser

Select item 14796344626.

rs1479634462 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40250273 (GRCh38)
3:40291764 (GRCh37)
Canonical SPDI:: NC_000003.12:40250272:A:G
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.40250273A>G, NC_000003.11:g.40291764A>G, NM_015460.4:c.2314A>G, NM_015460.3:c.2314A>G, NM_015460.2:c.2314A>G, XM_011533575.2:c.2314A>G, XM_011533575.1:c.2314A>G, NR_104316.2:n.2615A>G, NR_104316.1:n.2564A>G, NM_001284425.2:c.2047A>G, NM_001284425.1:c.2047A>G, NM_001284424.2:c.2119A>G, NM_001284424.1:c.2119A>G, NM_001284423.2:c.2314A>G, NM_001284423.1:c.2314A>G, NM_001284426.2:c.1753A>G, NM_001284426.1:c.1753A>G, NP_056275.2:p.Ile772Val, XP_011531877.1:p.Ile772Val, NP_001271354.1:p.Ile683Val, NP_001271353.1:p.Ile707Val, NP_001271352.1:p.Ile772Val, NP_001271355.1:p.Ile585Val

Select item 14777720357.

rs1477772035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40250258 (GRCh38)
3:40291749 (GRCh37)
Canonical SPDI:: NC_000003.12:40250257:A:G
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40250258A>G, NC_000003.11:g.40291749A>G, NM_015460.4:c.2299A>G, NM_015460.3:c.2299A>G, NM_015460.2:c.2299A>G, XM_011533575.2:c.2299A>G, XM_011533575.1:c.2299A>G, NR_104316.2:n.2600A>G, NR_104316.1:n.2549A>G, NM_001284425.2:c.2032A>G, NM_001284425.1:c.2032A>G, NM_001284424.2:c.2104A>G, NM_001284424.1:c.2104A>G, NM_001284423.2:c.2299A>G, NM_001284423.1:c.2299A>G, NM_001284426.2:c.1738A>G, NM_001284426.1:c.1738A>G, NP_056275.2:p.Ile767Val, XP_011531877.1:p.Ile767Val, NP_001271354.1:p.Ile678Val, NP_001271353.1:p.Ile702Val, NP_001271352.1:p.Ile767Val, NP_001271355.1:p.Ile580Val

Select item 14773208658.

rs1477320865 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:40044189 (GRCh38)
3:40085680 (GRCh37)
Canonical SPDI:: NC_000003.12:40044188:T:C
Gene:: MYRIP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.40044189T>C, NC_000003.11:g.40085680T>C, NM_015460.4:c.250T>C, NM_015460.3:c.250T>C, NM_015460.2:c.250T>C, XM_011533575.2:c.250T>C, XM_011533575.1:c.250T>C, NR_104316.2:n.588T>C, NR_104316.1:n.537T>C, NM_001284425.2:c.120T>C, NM_001284425.1:c.120T>C, NM_001284424.2:c.250T>C, NM_001284424.1:c.250T>C, NM_001284423.2:c.250T>C, NM_001284423.1:c.250T>C, NP_056275.2:p.Cys84Arg, XP_011531877.1:p.Cys84Arg, NP_001271353.1:p.Cys84Arg, NP_001271352.1:p.Cys84Arg

Select item 14769683779.

rs1476968377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40250448 (GRCh38)
3:40291939 (GRCh37)
Canonical SPDI:: NC_000003.12:40250447:A:G
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40250448A>G, NC_000003.11:g.40291939A>G, NM_015460.4:c.2377A>G, NM_015460.3:c.2377A>G, NM_015460.2:c.2377A>G, XM_011533575.2:c.2377A>G, XM_011533575.1:c.2377A>G, NR_104316.2:n.2678A>G, NR_104316.1:n.2627A>G, NM_001284425.2:c.2110A>G, NM_001284425.1:c.2110A>G, NM_001284424.2:c.2182A>G, NM_001284424.1:c.2182A>G, NM_001284423.2:c.2377A>G, NM_001284423.1:c.2377A>G, NM_001284426.2:c.1816A>G, NM_001284426.1:c.1816A>G, NP_056275.2:p.Ile793Val, XP_011531877.1:p.Ile793Val, NP_001271354.1:p.Ile704Val, NP_001271353.1:p.Ile728Val, NP_001271352.1:p.Ile793Val, NP_001271355.1:p.Ile606Val

Select item 147678175810.

rs1476781758 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:40233877 (GRCh38)
3:40275368 (GRCh37)
Canonical SPDI:: NC_000003.12:40233876:C:G
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40233877C>G, NC_000003.11:g.40275368C>G, NM_015460.4:c.1924C>G, NM_015460.3:c.1924C>G, NM_015460.2:c.1924C>G, XM_011533575.2:c.1924C>G, XM_011533575.1:c.1924C>G, NM_001284425.2:c.1657C>G, NM_001284425.1:c.1657C>G, NM_001284423.2:c.1924C>G, NM_001284423.1:c.1924C>G, NM_001284426.2:c.1363C>G, NM_001284426.1:c.1363C>G, NP_056275.2:p.Leu642Val, XP_011531877.1:p.Leu642Val, NP_001271354.1:p.Leu553Val, NP_001271352.1:p.Leu642Val, NP_001271355.1:p.Leu455Val

Select item 147388048311.

rs1473880483 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40167235 (GRCh38)
3:40208726 (GRCh37)
Canonical SPDI:: NC_000003.12:40167234:A:G
Gene:: MYRIP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40167235A>G, NC_000003.11:g.40208726A>G, NM_015460.4:c.725A>G, NM_015460.3:c.725A>G, NM_015460.2:c.725A>G, XM_011533575.2:c.725A>G, XM_011533575.1:c.725A>G, NR_104316.2:n.1063A>G, NR_104316.1:n.1012A>G, NM_001284425.2:c.458A>G, NM_001284425.1:c.458A>G, NM_001284424.2:c.725A>G, NM_001284424.1:c.725A>G, NM_001284423.2:c.725A>G, NM_001284423.1:c.725A>G, NM_001284426.2:c.164A>G, NM_001284426.1:c.164A>G, NP_056275.2:p.Gln242Arg, XP_011531877.1:p.Gln242Arg, NP_001271354.1:p.Gln153Arg, NP_001271353.1:p.Gln242Arg, NP_001271352.1:p.Gln242Arg, NP_001271355.1:p.Gln55Arg

Select item 147286839712.

rs1472868397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:40182254 (GRCh38)
3:40223745 (GRCh37)
Canonical SPDI:: NC_000003.12:40182248:AGAAGAAG:AGAAG
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAG=0./0 (ALFA)
-=0.000008/2 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.40182251AAG[1], NC_000003.11:g.40223742AAG[1], NM_015460.4:c.905AAG[1], NM_015460.3:c.905AAG[1], NM_015460.2:c.905AAG[1], XM_011533575.2:c.905AAG[1], XM_011533575.1:c.905AAG[1], NR_104316.2:n.1243AAG[1], NR_104316.1:n.1192AAG[1], NM_001284425.2:c.638AAG[1], NM_001284425.1:c.638AAG[1], NM_001284424.2:c.905AAG[1], NM_001284424.1:c.905AAG[1], NM_001284423.2:c.905AAG[1], NM_001284423.1:c.905AAG[1], NM_001284426.2:c.344AAG[1], NM_001284426.1:c.344AAG[1], NP_056275.2:p.Glu303del, XP_011531877.1:p.Glu303del, NP_001271354.1:p.Glu214del, NP_001271353.1:p.Glu303del, NP_001271352.1:p.Glu303del, NP_001271355.1:p.Glu116del

Select item 147223514913.

rs1472235149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40167228 (GRCh38)
3:40208719 (GRCh37)
Canonical SPDI:: NC_000003.12:40167227:A:G
Gene:: MYRIP (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000003.12:g.40167228A>G, NC_000003.11:g.40208719A>G, NM_015460.4:c.718A>G, NM_015460.3:c.718A>G, NM_015460.2:c.718A>G, XM_011533575.2:c.718A>G, XM_011533575.1:c.718A>G, NR_104316.2:n.1056A>G, NR_104316.1:n.1005A>G, NM_001284425.2:c.451A>G, NM_001284425.1:c.451A>G, NM_001284424.2:c.718A>G, NM_001284424.1:c.718A>G, NM_001284423.2:c.718A>G, NM_001284423.1:c.718A>G, NM_001284426.2:c.157A>G, NM_001284426.1:c.157A>G, NP_056275.2:p.Ile240Val, XP_011531877.1:p.Ile240Val, NP_001271354.1:p.Ile151Val, NP_001271353.1:p.Ile240Val, NP_001271352.1:p.Ile240Val, NP_001271355.1:p.Ile53Val

Select item 147097577414.

rs1470975774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:40233886 (GRCh38)
3:40275377 (GRCh37)
Canonical SPDI:: NC_000003.12:40233885:A:G
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.40233886A>G, NC_000003.11:g.40275377A>G, NM_015460.4:c.1933A>G, NM_015460.3:c.1933A>G, NM_015460.2:c.1933A>G, XM_011533575.2:c.1933A>G, XM_011533575.1:c.1933A>G, NM_001284425.2:c.1666A>G, NM_001284425.1:c.1666A>G, NM_001284423.2:c.1933A>G, NM_001284423.1:c.1933A>G, NM_001284426.2:c.1372A>G, NM_001284426.1:c.1372A>G, NP_056275.2:p.Ile645Val, XP_011531877.1:p.Ile645Val, NP_001271354.1:p.Ile556Val, NP_001271352.1:p.Ile645Val, NP_001271355.1:p.Ile458Val

Select item 147063443515.

rs1470634435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:40233984 (GRCh38)
3:40275475 (GRCh37)
Canonical SPDI:: NC_000003.12:40233983:G:T
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40233984G>T, NC_000003.11:g.40275475G>T, NM_015460.4:c.2031G>T, NM_015460.3:c.2031G>T, NM_015460.2:c.2031G>T, XM_011533575.2:c.2031G>T, XM_011533575.1:c.2031G>T, NR_104316.2:n.2332G>T, NR_104316.1:n.2281G>T, NM_001284425.2:c.1764G>T, NM_001284425.1:c.1764G>T, NM_001284423.2:c.2031G>T, NM_001284423.1:c.2031G>T, NM_001284426.2:c.1470G>T, NM_001284426.1:c.1470G>T, NP_056275.2:p.Gln677His, XP_011531877.1:p.Gln677His, NP_001271354.1:p.Gln588His, NP_001271352.1:p.Gln677His, NP_001271355.1:p.Gln490His

Select item 147052752516.

rs1470527525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:40044271 (GRCh38)
3:40085762 (GRCh37)
Canonical SPDI:: NC_000003.12:40044270:G:T
Gene:: MYRIP (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.40044271G>T, NC_000003.11:g.40085762G>T, NM_015460.4:c.332G>T, NM_015460.3:c.332G>T, NM_015460.2:c.332G>T, XM_011533575.2:c.332G>T, XM_011533575.1:c.332G>T, NR_104316.2:n.670G>T, NR_104316.1:n.619G>T, NM_001284425.2:c.202G>T, NM_001284425.1:c.202G>T, NM_001284424.2:c.332G>T, NM_001284424.1:c.332G>T, NM_001284423.2:c.332G>T, NM_001284423.1:c.332G>T, NP_056275.2:p.Arg111Met, XP_011531877.1:p.Arg111Met, NP_001271354.1:p.Gly68Ter, NP_001271353.1:p.Arg111Met, NP_001271352.1:p.Arg111Met

Select item 147013433517.

rs1470134335 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40044108 (GRCh38)
3:40085599 (GRCh37)
Canonical SPDI:: NC_000003.12:40044107:C:T
Gene:: MYRIP (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.40044108C>T, NC_000003.11:g.40085599C>T, NM_015460.4:c.169C>T, NM_015460.3:c.169C>T, NM_015460.2:c.169C>T, XM_011533575.2:c.169C>T, XM_011533575.1:c.169C>T, NR_104316.2:n.507C>T, NR_104316.1:n.456C>T, NM_001284425.2:c.39C>T, NM_001284425.1:c.39C>T, NM_001284424.2:c.169C>T, NM_001284424.1:c.169C>T, NM_001284423.2:c.169C>T, NM_001284423.1:c.169C>T, NP_056275.2:p.Gln57Ter, XP_011531877.1:p.Gln57Ter, NP_001271353.1:p.Gln57Ter, NP_001271352.1:p.Gln57Ter

Select item 146949387118.

rs1469493871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:40233909 (GRCh38)
3:40275400 (GRCh37)
Canonical SPDI:: NC_000003.12:40233908:C:A,NC_000003.12:40233908:C:G,NC_000003.12:40233908:C:T
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.40233909C>A, NC_000003.12:g.40233909C>G, NC_000003.12:g.40233909C>T, NC_000003.11:g.40275400C>A, NC_000003.11:g.40275400C>G, NC_000003.11:g.40275400C>T, NM_015460.4:c.1956C>A, NM_015460.4:c.1956C>G, NM_015460.4:c.1956C>T, NM_015460.3:c.1956C>A, NM_015460.3:c.1956C>G, NM_015460.3:c.1956C>T, NM_015460.2:c.1956C>A, NM_015460.2:c.1956C>G, NM_015460.2:c.1956C>T, XM_011533575.2:c.1956C>A, XM_011533575.2:c.1956C>G, XM_011533575.2:c.1956C>T, XM_011533575.1:c.1956C>A, XM_011533575.1:c.1956C>G, XM_011533575.1:c.1956C>T, NR_104316.2:n.2257C>A, NR_104316.2:n.2257C>G, NR_104316.2:n.2257C>T, NR_104316.1:n.2206C>A, NR_104316.1:n.2206C>G, NR_104316.1:n.2206C>T, NM_001284425.2:c.1689C>A, NM_001284425.2:c.1689C>G, NM_001284425.2:c.1689C>T, NM_001284425.1:c.1689C>A, NM_001284425.1:c.1689C>G, NM_001284425.1:c.1689C>T, NM_001284423.2:c.1956C>A, NM_001284423.2:c.1956C>G, NM_001284423.2:c.1956C>T, NM_001284423.1:c.1956C>A, NM_001284423.1:c.1956C>G, NM_001284423.1:c.1956C>T, NM_001284426.2:c.1395C>A, NM_001284426.2:c.1395C>G, NM_001284426.2:c.1395C>T, NM_001284426.1:c.1395C>A, NM_001284426.1:c.1395C>G, NM_001284426.1:c.1395C>T

Select item 146906233619.

rs1469062336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:40190187 (GRCh38)
3:40231678 (GRCh37)
Canonical SPDI:: NC_000003.12:40190186:C:T
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.40190187C>T, NC_000003.11:g.40231678C>T, NM_015460.4:c.1389C>T, NM_015460.3:c.1389C>T, NM_015460.2:c.1389C>T, XM_011533575.2:c.1389C>T, XM_011533575.1:c.1389C>T, NR_104316.2:n.1727C>T, NR_104316.1:n.1676C>T, NM_001284425.2:c.1122C>T, NM_001284425.1:c.1122C>T, NM_001284424.2:c.1389C>T, NM_001284424.1:c.1389C>T, NM_001284423.2:c.1389C>T, NM_001284423.1:c.1389C>T, NM_001284426.2:c.828C>T, NM_001284426.1:c.828C>T

Select item 146690004220.

rs1466900042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 3:40190371 (GRCh38)
3:40231862 (GRCh37)
Canonical SPDI:: NC_000003.12:40190370:A:C,NC_000003.12:40190370:A:T
Gene:: MYRIP (Varview), EIF1B-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,missense_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)
C=0.004913/9 (Korea1K)
HGVS:: NC_000003.12:g.40190371A>C, NC_000003.12:g.40190371A>T, NC_000003.11:g.40231862A>C, NC_000003.11:g.40231862A>T, NM_015460.4:c.1573A>C, NM_015460.4:c.1573A>T, NM_015460.3:c.1573A>C, NM_015460.3:c.1573A>T, NM_015460.2:c.1573A>C, NM_015460.2:c.1573A>T, XM_011533575.2:c.1573A>C, XM_011533575.2:c.1573A>T, XM_011533575.1:c.1573A>C, XM_011533575.1:c.1573A>T, NR_104316.2:n.1911A>C, NR_104316.2:n.1911A>T, NR_104316.1:n.1860A>C, NR_104316.1:n.1860A>T, NM_001284425.2:c.1306A>C, NM_001284425.2:c.1306A>T, NM_001284425.1:c.1306A>C, NM_001284425.1:c.1306A>T, NM_001284424.2:c.1573A>C, NM_001284424.2:c.1573A>T, NM_001284424.1:c.1573A>C, NM_001284424.1:c.1573A>T, NM_001284423.2:c.1573A>C, NM_001284423.2:c.1573A>T, NM_001284423.1:c.1573A>C, NM_001284423.1:c.1573A>T, NM_001284426.2:c.1012A>C, NM_001284426.2:c.1012A>T, NM_001284426.1:c.1012A>C, NM_001284426.1:c.1012A>T, NP_056275.2:p.Arg525Trp, XP_011531877.1:p.Arg525Trp, NP_001271354.1:p.Arg436Trp, NP_001271353.1:p.Arg525Trp, NP_001271352.1:p.Arg525Trp, NP_001271355.1:p.Arg338Trp

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