SNP Links for Protein (Select 564473399) - SNP

Links from Protein

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Select item 14907161551.

rs1490716155 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:110888956 (GRCh38)
6:111210159 (GRCh37)
Canonical SPDI:: NC_000006.12:110888954:GGG:G
Gene:: AMD1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000006.12:g.110888956_110888957del, NC_000006.11:g.111210159_111210160del, NM_001634.6:c.297_298del, NM_001634.5:c.297_298del, NM_001634.4:c.297_298del, NM_001287215.2:c.90_91del, NM_001287215.1:c.90_91del, NM_001393406.1:c.90_91del, NM_001287214.1:c.210_211del, NR_171681.1:n.531_532del, NP_001625.2:p.Asp100fs, NP_001274144.1:p.Asp31fs, NP_001380335.1:p.Asp31fs, NP_001274143.1:p.Asp71fs

Select item 14890486812.

rs1489048681 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:110893606 (GRCh38)
6:111214809 (GRCh37)
Canonical SPDI:: NC_000006.12:110893605:A:T
Gene:: AMD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110893606A>T, NC_000006.11:g.111214809A>T, NM_001634.6:c.995A>T, NM_001634.5:c.995A>T, NM_001634.4:c.995A>T, NM_001287215.2:c.788A>T, NM_001287215.1:c.788A>T, NR_109768.2:n.999A>T, NR_109768.1:n.1000A>T, NM_001393406.1:c.788A>T, NM_001287214.1:c.908A>T, NM_001393407.1:c.644A>T, NR_171681.1:n.1186A>T, NM_001393408.1:c.644A>T, NM_001033059.1:c.551A>T, NM_001287216.1:c.635A>T, NP_001625.2:p.Gln332Leu, NP_001274144.1:p.Gln263Leu, NP_001380335.1:p.Gln263Leu, NP_001274143.1:p.Gln303Leu, NP_001380336.1:p.Gln215Leu, NP_001380337.1:p.Gln215Leu, NP_001274145.1:p.Gln212Leu

Select item 14830282153.

rs1483028215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110893520 (GRCh38)
6:111214723 (GRCh37)
Canonical SPDI:: NC_000006.12:110893519:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110893520A>G, NC_000006.11:g.111214723A>G, NM_001634.6:c.909A>G, NM_001634.5:c.909A>G, NM_001634.4:c.909A>G, NM_001287215.2:c.702A>G, NM_001287215.1:c.702A>G, NR_109768.2:n.913A>G, NR_109768.1:n.914A>G, NM_001393406.1:c.702A>G, NM_001287214.1:c.822A>G, NM_001393407.1:c.558A>G, NR_171681.1:n.1100A>G, NM_001393408.1:c.558A>G, NM_001033059.1:c.465A>G, NM_001287216.1:c.549A>G

Select item 14794178044.

rs1479417804 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:110888972 (GRCh38)
6:111210175 (GRCh37)
Canonical SPDI:: NC_000006.12:110888971:G:C
Gene:: AMD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110888972G>C, NC_000006.11:g.111210175G>C, NM_001634.6:c.313G>C, NM_001634.5:c.313G>C, NM_001634.4:c.313G>C, NM_001287215.2:c.106G>C, NM_001287215.1:c.106G>C, NM_001393406.1:c.106G>C, NM_001287214.1:c.226G>C, NR_171681.1:n.547G>C, NP_001625.2:p.Asp105His, NP_001274144.1:p.Asp36His, NP_001380335.1:p.Asp36His, NP_001274143.1:p.Asp76His

Select item 14745451415.

rs1474545141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110892821 (GRCh38)
6:111214024 (GRCh37)
Canonical SPDI:: NC_000006.12:110892820:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.110892821A>G, NC_000006.11:g.111214024A>G, NM_001634.6:c.702A>G, NM_001634.5:c.702A>G, NM_001634.4:c.702A>G, NM_001287215.2:c.495A>G, NM_001287215.1:c.495A>G, NR_109768.2:n.706A>G, NR_109768.1:n.707A>G, NM_001393406.1:c.495A>G, NM_001287214.1:c.615A>G, NM_001393407.1:c.351A>G, NR_171681.1:n.893A>G, NM_001393408.1:c.351A>G, NM_001033059.1:c.258A>G, NM_001287216.1:c.342A>G

Select item 14696630216.

rs1469663021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110888902 (GRCh38)
6:111210105 (GRCh37)
Canonical SPDI:: NC_000006.12:110888901:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_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_000006.12:g.110888902A>G, NC_000006.11:g.111210105A>G, NM_001634.6:c.243A>G, NM_001634.5:c.243A>G, NM_001634.4:c.243A>G, NM_001287215.2:c.36A>G, NM_001287215.1:c.36A>G, NM_001393406.1:c.36A>G, NM_001287214.1:c.156A>G, NR_171681.1:n.477A>G

Select item 14678041087.

rs1467804108 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110892183 (GRCh38)
6:111213386 (GRCh37)
Canonical SPDI:: NC_000006.12:110892182:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.110892183A>G, NC_000006.11:g.111213386A>G, NM_001634.6:c.450A>G, NM_001634.5:c.450A>G, NM_001634.4:c.450A>G, NM_001287215.2:c.243A>G, NM_001287215.1:c.243A>G, NR_109768.2:n.454A>G, NR_109768.1:n.455A>G, NM_001393406.1:c.243A>G, NM_001287214.1:c.363A>G, NM_001393407.1:c.99A>G, NM_001393408.1:c.99A>G, NM_001033059.1:c.6A>G

Select item 14666262988.

rs1466626298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:110890291 (GRCh38)
6:111211494 (GRCh37)
Canonical SPDI:: NC_000006.12:110890290:C:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_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_000006.12:g.110890291C>G, NC_000006.11:g.111211494C>G, NM_001634.6:c.362C>G, NM_001634.5:c.362C>G, NM_001634.4:c.362C>G, NM_001287215.2:c.155C>G, NM_001287215.1:c.155C>G, NM_001393406.1:c.155C>G, NM_001287214.1:c.275C>G, NM_001393407.1:c.11C>G, NR_171681.1:n.596C>G, NM_001393408.1:c.11C>G, NP_001625.2:p.Ser121Cys, NP_001274144.1:p.Ser52Cys, NP_001380335.1:p.Ser52Cys, NP_001274143.1:p.Ser92Cys, NP_001380336.1:p.Ser4Cys, NP_001380337.1:p.Ser4Cys

Select item 14632337229.

rs1463233722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:110892185 (GRCh38)
6:111213388 (GRCh37)
Canonical SPDI:: NC_000006.12:110892184:G:A
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_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=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.110892185G>A, NC_000006.11:g.111213388G>A, NM_001634.6:c.452G>A, NM_001634.5:c.452G>A, NM_001634.4:c.452G>A, NM_001287215.2:c.245G>A, NM_001287215.1:c.245G>A, NR_109768.2:n.456G>A, NR_109768.1:n.457G>A, NM_001393406.1:c.245G>A, NM_001287214.1:c.365G>A, NM_001393407.1:c.101G>A, NM_001393408.1:c.101G>A, NM_001033059.1:c.8G>A, NP_001625.2:p.Arg151His, NP_001274144.1:p.Arg82His, NP_001380335.1:p.Arg82His, NP_001274143.1:p.Arg122His, NP_001380336.1:p.Arg34His, NP_001380337.1:p.Arg34His

Select item 145034628310.

rs1450346283 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110892948 (GRCh38)
6:111214151 (GRCh37)
Canonical SPDI:: NC_000006.12:110892947:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110892948A>G, NC_000006.11:g.111214151A>G, NM_001634.6:c.747A>G, NM_001634.5:c.747A>G, NM_001634.4:c.747A>G, NM_001287215.2:c.540A>G, NM_001287215.1:c.540A>G, NR_109768.2:n.751A>G, NR_109768.1:n.752A>G, NM_001393406.1:c.540A>G, NM_001287214.1:c.660A>G, NM_001393407.1:c.396A>G, NR_171681.1:n.938A>G, NM_001393408.1:c.396A>G, NM_001033059.1:c.303A>G, NM_001287216.1:c.387A>G

Select item 144658695311.

rs1446586953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110893060 (GRCh38)
6:111214263 (GRCh37)
Canonical SPDI:: NC_000006.12:110893059:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110893060A>G, NC_000006.11:g.111214263A>G, NM_001634.6:c.859A>G, NM_001634.5:c.859A>G, NM_001634.4:c.859A>G, NM_001287215.2:c.652A>G, NM_001287215.1:c.652A>G, NR_109768.2:n.863A>G, NR_109768.1:n.864A>G, NM_001393406.1:c.652A>G, NM_001287214.1:c.772A>G, NM_001393407.1:c.508A>G, NR_171681.1:n.1050A>G, NM_001393408.1:c.508A>G, NM_001033059.1:c.415A>G, NM_001287216.1:c.499A>G, NP_001625.2:p.Asn287Asp, NP_001274144.1:p.Asn218Asp, NP_001380335.1:p.Asn218Asp, NP_001274143.1:p.Asn258Asp, NP_001380336.1:p.Asn170Asp, NP_001380337.1:p.Asn170Asp, NP_001274145.1:p.Asn167Asp

Select item 143797733612.

rs1437977336 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:110892800 (GRCh38)
6:111214003 (GRCh37)
Canonical SPDI:: NC_000006.12:110892799:G:A
Gene:: AMD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
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_000006.12:g.110892800G>A, NC_000006.11:g.111214003G>A, NM_001634.6:c.681G>A, NM_001634.5:c.681G>A, NM_001634.4:c.681G>A, NM_001287215.2:c.474G>A, NM_001287215.1:c.474G>A, NR_109768.2:n.685G>A, NR_109768.1:n.686G>A, NM_001393406.1:c.474G>A, NM_001287214.1:c.594G>A, NM_001393407.1:c.330G>A, NR_171681.1:n.872G>A, NM_001393408.1:c.330G>A, NM_001033059.1:c.237G>A, NM_001287216.1:c.321G>A

Select item 143409816313.

rs1434098163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:110893537 (GRCh38)
6:111214740 (GRCh37)
Canonical SPDI:: NC_000006.12:110893536:A:C
Gene:: AMD1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110893537A>C, NC_000006.11:g.111214740A>C, NM_001634.6:c.926A>C, NM_001634.5:c.926A>C, NM_001634.4:c.926A>C, NM_001287215.2:c.719A>C, NM_001287215.1:c.719A>C, NR_109768.2:n.930A>C, NR_109768.1:n.931A>C, NM_001393406.1:c.719A>C, NM_001287214.1:c.839A>C, NM_001393407.1:c.575A>C, NR_171681.1:n.1117A>C, NM_001393408.1:c.575A>C, NM_001033059.1:c.482A>C, NM_001287216.1:c.566A>C, NP_001625.2:p.Asp309Ala, NP_001274144.1:p.Asp240Ala, NP_001380335.1:p.Asp240Ala, NP_001274143.1:p.Asp280Ala, NP_001380336.1:p.Asp192Ala, NP_001380337.1:p.Asp192Ala, NP_001274145.1:p.Asp189Ala

Select item 142660114014.

rs1426601140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:110892981 (GRCh38)
6:111214184 (GRCh37)
Canonical SPDI:: NC_000006.12:110892980:T:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110892981T>G, NC_000006.11:g.111214184T>G, NM_001634.6:c.780T>G, NM_001634.5:c.780T>G, NM_001634.4:c.780T>G, NM_001287215.2:c.573T>G, NM_001287215.1:c.573T>G, NR_109768.2:n.784T>G, NR_109768.1:n.785T>G, NM_001393406.1:c.573T>G, NM_001287214.1:c.693T>G, NM_001393407.1:c.429T>G, NR_171681.1:n.971T>G, NM_001393408.1:c.429T>G, NM_001033059.1:c.336T>G, NM_001287216.1:c.420T>G, NP_001625.2:p.Ser260Arg, NP_001274144.1:p.Ser191Arg, NP_001380335.1:p.Ser191Arg, NP_001274143.1:p.Ser231Arg, NP_001380336.1:p.Ser143Arg, NP_001380337.1:p.Ser143Arg, NP_001274145.1:p.Ser140Arg

Select item 141916727715.

rs1419167277 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:110892336 (GRCh38)
6:111213539 (GRCh37)
Canonical SPDI:: NC_000006.12:110892335:A:G
Gene:: AMD1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110892336A>G, NC_000006.11:g.111213539A>G, NM_001634.6:c.508A>G, NM_001634.5:c.508A>G, NM_001634.4:c.508A>G, NM_001287215.2:c.301A>G, NM_001287215.1:c.301A>G, NR_109768.2:n.512A>G, NR_109768.1:n.513A>G, NM_001393406.1:c.301A>G, NM_001287214.1:c.421A>G, NM_001393407.1:c.157A>G, NR_171681.1:n.699A>G, NM_001393408.1:c.157A>G, NM_001033059.1:c.64A>G, NM_001287216.1:c.148A>G, NP_001625.2:p.Ile170Val, NP_001274144.1:p.Ile101Val, NP_001380335.1:p.Ile101Val, NP_001274143.1:p.Ile141Val, NP_001380336.1:p.Ile53Val, NP_001380337.1:p.Ile53Val, NP_001274145.1:p.Ile50Val

Select item 141676729916.

rs1416767299 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:110893494 (GRCh38)
6:111214697 (GRCh37)
Canonical SPDI:: NC_000006.12:110893493:G:A
Gene:: AMD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.110893494G>A, NC_000006.11:g.111214697G>A, NM_001634.6:c.883G>A, NM_001634.5:c.883G>A, NM_001634.4:c.883G>A, NM_001287215.2:c.676G>A, NM_001287215.1:c.676G>A, NR_109768.2:n.887G>A, NR_109768.1:n.888G>A, NM_001393406.1:c.676G>A, NM_001287214.1:c.796G>A, NM_001393407.1:c.532G>A, NR_171681.1:n.1074G>A, NM_001393408.1:c.532G>A, NM_001033059.1:c.439G>A, NM_001287216.1:c.523G>A, NP_001625.2:p.Val295Met, NP_001274144.1:p.Val226Met, NP_001380335.1:p.Val226Met, NP_001274143.1:p.Val266Met, NP_001380336.1:p.Val178Met, NP_001380337.1:p.Val178Met, NP_001274145.1:p.Val175Met

Select item 140924252817.

rs1409242528 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:110892770 (GRCh38)
6:111213973 (GRCh37)
Canonical SPDI:: NC_000006.12:110892769:C:T
Gene:: AMD1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_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)
T=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.110892770C>T, NC_000006.11:g.111213973C>T, NM_001634.6:c.651C>T, NM_001634.5:c.651C>T, NM_001634.4:c.651C>T, NM_001287215.2:c.444C>T, NM_001287215.1:c.444C>T, NR_109768.2:n.655C>T, NR_109768.1:n.656C>T, NM_001393406.1:c.444C>T, NM_001287214.1:c.564C>T, NM_001393407.1:c.300C>T, NR_171681.1:n.842C>T, NM_001393408.1:c.300C>T, NM_001033059.1:c.207C>T, NM_001287216.1:c.291C>T

Select item 140366159018.

rs1403661590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:110893550 (GRCh38)
6:111214753 (GRCh37)
Canonical SPDI:: NC_000006.12:110893549:T:C
Gene:: AMD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.110893550T>C, NC_000006.11:g.111214753T>C, NM_001634.6:c.939T>C, NM_001634.5:c.939T>C, NM_001634.4:c.939T>C, NM_001287215.2:c.732T>C, NM_001287215.1:c.732T>C, NR_109768.2:n.943T>C, NR_109768.1:n.944T>C, NM_001393406.1:c.732T>C, NM_001287214.1:c.852T>C, NM_001393407.1:c.588T>C, NR_171681.1:n.1130T>C, NM_001393408.1:c.588T>C, NM_001033059.1:c.495T>C, NM_001287216.1:c.579T>C

Select item 138844040619.

rs1388440406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:110892975 (GRCh38)
6:111214178 (GRCh37)
Canonical SPDI:: NC_000006.12:110892974:C:G
Gene:: AMD1 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.110892975C>G, NC_000006.11:g.111214178C>G, NM_001634.6:c.774C>G, NM_001634.5:c.774C>G, NM_001634.4:c.774C>G, NM_001287215.2:c.567C>G, NM_001287215.1:c.567C>G, NR_109768.2:n.778C>G, NR_109768.1:n.779C>G, NM_001393406.1:c.567C>G, NM_001287214.1:c.687C>G, NM_001393407.1:c.423C>G, NR_171681.1:n.965C>G, NM_001393408.1:c.423C>G, NM_001033059.1:c.330C>G, NM_001287216.1:c.414C>G, NP_001625.2:p.Asn258Lys, NP_001274144.1:p.Asn189Lys, NP_001380335.1:p.Asn189Lys, NP_001274143.1:p.Asn229Lys, NP_001380336.1:p.Asn141Lys, NP_001380337.1:p.Asn141Lys, NP_001274145.1:p.Asn138Lys

Select item 138537054220.

rs1385370542 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:110892377 (GRCh38)
6:111213580 (GRCh37)
Canonical SPDI:: NC_000006.12:110892376:G:A
Gene:: AMD1 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.110892377G>A, NC_000006.11:g.111213580G>A, NM_001634.6:c.549G>A, NM_001634.5:c.549G>A, NM_001634.4:c.549G>A, NM_001287215.2:c.342G>A, NM_001287215.1:c.342G>A, NR_109768.2:n.553G>A, NR_109768.1:n.554G>A, NM_001393406.1:c.342G>A, NM_001287214.1:c.462G>A, NM_001393407.1:c.198G>A, NR_171681.1:n.740G>A, NM_001393408.1:c.198G>A, NM_001033059.1:c.105G>A, NM_001287216.1:c.189G>A

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