SNP Links for Protein (Select 966209849) - SNP

Links from Protein

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Select item 14825759951.

rs1482575995 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:28855174 (GRCh38)
17:27182192 (GRCh37)
Canonical SPDI:: NC_000017.11:28855173:T:G
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28855174T>G, NC_000017.10:g.27182192T>G, NM_005702.4:c.140T>G, NM_005702.3:c.140T>G, NM_005702.2:c.140T>G, NM_001317985.2:c.140T>G, NM_001317985.1:c.140T>G, NR_134328.2:n.159T>G, NR_134328.1:n.218T>G, NM_001317986.2:c.140T>G, NM_001317986.1:c.140T>G, NP_005693.1:p.Val47Gly, NP_001304914.1:p.Val47Gly, NP_001304915.1:p.Val47Gly

Select item 14751635712.

rs1475163571 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28855285 (GRCh38)
17:27182303 (GRCh37)
Canonical SPDI:: NC_000017.11:28855284:C:T
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000017.11:g.28855285C>T, NC_000017.10:g.27182303C>T, NM_005702.4:c.251C>T, NM_005702.3:c.251C>T, NM_005702.2:c.251C>T, NM_001317985.2:c.251C>T, NM_001317985.1:c.251C>T, NR_134328.2:n.270C>T, NR_134328.1:n.329C>T, NM_001317986.2:c.251C>T, NM_001317986.1:c.251C>T, NP_005693.1:p.Thr84Ile, NP_001304914.1:p.Thr84Ile, NP_001304915.1:p.Thr84Ile

Select item 14742315113.

rs1474231511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28859042 (GRCh38)
17:27186060 (GRCh37)
Canonical SPDI:: NC_000017.11:28859041:A:G
Gene:: ERAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28859042A>G, NC_000017.10:g.27186060A>G, NM_005702.4:c.1039A>G, NM_005702.3:c.1039A>G, NM_005702.2:c.1039A>G, NM_001317985.2:c.1036A>G, NM_001317985.1:c.1036A>G, NR_134328.2:n.867A>G, NR_134328.1:n.926A>G, NM_001317986.2:c.790A>G, NM_001317986.1:c.790A>G, NP_005693.1:p.Ile347Val, NP_001304914.1:p.Ile346Val, NP_001304915.1:p.Ile264Val

Select item 14741800314.

rs1474180031 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:28858977 (GRCh38)
17:27185996 (GRCh37)
Canonical SPDI:: NC_000017.11:28858977:A:AA
Gene:: ERAL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28858978dup, NC_000017.10:g.27185996dup, NM_005702.4:c.975dup, NM_005702.3:c.975dup, NM_005702.2:c.975dup, NM_001317985.2:c.972dup, NM_001317985.1:c.972dup, NR_134328.2:n.803dup, NR_134328.1:n.862dup, NM_001317986.2:c.726dup, NM_001317986.1:c.726dup, NP_005693.1:p.Gln326fs, NP_001304914.1:p.Gln325fs, NP_001304915.1:p.Gln243fs

Select item 14733293445.

rs1473329344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:28855240 (GRCh38)
17:27182258 (GRCh37)
Canonical SPDI:: NC_000017.11:28855239:C:A,NC_000017.11:28855239:C:G,NC_000017.11:28855239:C:T
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.28855240C>A, NC_000017.11:g.28855240C>G, NC_000017.11:g.28855240C>T, NC_000017.10:g.27182258C>A, NC_000017.10:g.27182258C>G, NC_000017.10:g.27182258C>T, NM_005702.4:c.206C>A, NM_005702.4:c.206C>G, NM_005702.4:c.206C>T, NM_005702.3:c.206C>A, NM_005702.3:c.206C>G, NM_005702.3:c.206C>T, NM_005702.2:c.206C>A, NM_005702.2:c.206C>G, NM_005702.2:c.206C>T, NM_001317985.2:c.206C>A, NM_001317985.2:c.206C>G, NM_001317985.2:c.206C>T, NM_001317985.1:c.206C>A, NM_001317985.1:c.206C>G, NM_001317985.1:c.206C>T, NR_134328.2:n.225C>A, NR_134328.2:n.225C>G, NR_134328.2:n.225C>T, NR_134328.1:n.284C>A, NR_134328.1:n.284C>G, NR_134328.1:n.284C>T, NM_001317986.2:c.206C>A, NM_001317986.2:c.206C>G, NM_001317986.2:c.206C>T, NM_001317986.1:c.206C>A, NM_001317986.1:c.206C>G, NM_001317986.1:c.206C>T, NP_005693.1:p.Ala69Asp, NP_005693.1:p.Ala69Gly, NP_005693.1:p.Ala69Val, NP_001304914.1:p.Ala69Asp, NP_001304914.1:p.Ala69Gly, NP_001304914.1:p.Ala69Val, NP_001304915.1:p.Ala69Asp, NP_001304915.1:p.Ala69Gly, NP_001304915.1:p.Ala69Val

Select item 14694870996.

rs1469487099 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28856280 (GRCh38)
17:27183298 (GRCh37)
Canonical SPDI:: NC_000017.11:28856279:C:A
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.28856280C>A, NC_000017.10:g.27183298C>A, NM_005702.4:c.300C>A, NM_005702.3:c.300C>A, NM_005702.2:c.300C>A, NM_001317985.2:c.300C>A, NM_001317985.1:c.300C>A, NR_134328.2:n.319C>A, NR_134328.1:n.378C>A, NM_001317986.2:c.300C>A, NM_001317986.1:c.300C>A

Select item 14690680967.

rs1469068096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28856507 (GRCh38)
17:27183525 (GRCh37)
Canonical SPDI:: NC_000017.11:28856506:G:A
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28856507G>A, NC_000017.10:g.27183525G>A, NM_005702.4:c.414G>A, NM_005702.3:c.414G>A, NM_005702.2:c.414G>A, NM_001317985.2:c.414G>A, NM_001317985.1:c.414G>A, NR_134328.2:n.433G>A, NR_134328.1:n.492G>A, NM_001317986.2:c.414G>A, NM_001317986.1:c.414G>A

Select item 14636299418.

rs1463629941 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28856518 (GRCh38)
17:27183536 (GRCh37)
Canonical SPDI:: NC_000017.11:28856517:C:T
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28856518C>T, NC_000017.10:g.27183536C>T, NM_005702.4:c.425C>T, NM_005702.3:c.425C>T, NM_005702.2:c.425C>T, NM_001317985.2:c.425C>T, NM_001317985.1:c.425C>T, NR_134328.2:n.444C>T, NR_134328.1:n.503C>T, NM_001317986.2:c.425C>T, NM_001317986.1:c.425C>T, NP_005693.1:p.Ser142Phe, NP_001304914.1:p.Ser142Phe, NP_001304915.1:p.Ser142Phe

Select item 14634154879.

rs1463415487 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:28855167 (GRCh38)
17:27182185 (GRCh37)
Canonical SPDI:: NC_000017.11:28855166:T:A
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28855167T>A, NC_000017.10:g.27182185T>A, NM_005702.4:c.133T>A, NM_005702.3:c.133T>A, NM_005702.2:c.133T>A, NM_001317985.2:c.133T>A, NM_001317985.1:c.133T>A, NR_134328.2:n.152T>A, NR_134328.1:n.211T>A, NM_001317986.2:c.133T>A, NM_001317986.1:c.133T>A, NP_005693.1:p.Ser45Thr, NP_001304914.1:p.Ser45Thr, NP_001304915.1:p.Ser45Thr

Select item 146185614210.

rs1461856142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28856369 (GRCh38)
17:27183387 (GRCh37)
Canonical SPDI:: NC_000017.11:28856368:C:T
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.28856369C>T, NC_000017.10:g.27183387C>T, NM_005702.4:c.389C>T, NM_005702.3:c.389C>T, NM_005702.2:c.389C>T, NM_001317985.2:c.389C>T, NM_001317985.1:c.389C>T, NR_134328.2:n.408C>T, NR_134328.1:n.467C>T, NM_001317986.2:c.389C>T, NM_001317986.1:c.389C>T, NP_005693.1:p.Ser130Phe, NP_001304914.1:p.Ser130Phe, NP_001304915.1:p.Ser130Phe

Select item 146161943811.

rs1461619438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28860503 (GRCh38)
17:27187521 (GRCh37)
Canonical SPDI:: NC_000017.11:28860502:A:G
Gene:: ERAL1 (Varview), MIR451B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28860503A>G, NC_000017.10:g.27187521A>G, NM_005702.4:c.1264A>G, NM_005702.3:c.1264A>G, NM_005702.2:c.1264A>G, NM_001317985.2:c.1261A>G, NM_001317985.1:c.1261A>G, NR_134328.2:n.1092A>G, NR_134328.1:n.1151A>G, NM_001317986.2:c.1015A>G, NM_001317986.1:c.1015A>G, NP_005693.1:p.Ile422Val, NP_001304914.1:p.Ile421Val, NP_001304915.1:p.Ile339Val

Select item 145958758212.

rs1459587582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28855220 (GRCh38)
17:27182238 (GRCh37)
Canonical SPDI:: NC_000017.11:28855219:C:T
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28855220C>T, NC_000017.10:g.27182238C>T, NM_005702.4:c.186C>T, NM_005702.3:c.186C>T, NM_005702.2:c.186C>T, NM_001317985.2:c.186C>T, NM_001317985.1:c.186C>T, NR_134328.2:n.205C>T, NR_134328.1:n.264C>T, NM_001317986.2:c.186C>T, NM_001317986.1:c.186C>T

Select item 145626862513.

rs1456268625 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:28856570 (GRCh38)
17:27183588 (GRCh37)
Canonical SPDI:: NC_000017.11:28856569:G:C
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28856570G>C, NC_000017.10:g.27183588G>C, NM_005702.4:c.477G>C, NM_005702.3:c.477G>C, NM_005702.2:c.477G>C, NM_001317985.2:c.477G>C, NM_001317985.1:c.477G>C, NR_134328.2:n.496G>C, NR_134328.1:n.555G>C, NM_001317986.2:c.477G>C, NM_001317986.1:c.477G>C, NP_005693.1:p.Lys159Asn, NP_001304914.1:p.Lys159Asn, NP_001304915.1:p.Lys159Asn

Select item 145398867514.

rs1453988675 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28858477 (GRCh38)
17:27185495 (GRCh37)
Canonical SPDI:: NC_000017.11:28858476:C:T
Gene:: ERAL1 (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=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28858477C>T, NC_000017.10:g.27185495C>T, NM_005702.4:c.702C>T, NM_005702.3:c.702C>T, NM_005702.2:c.702C>T, NM_001317985.2:c.699C>T, NM_001317985.1:c.699C>T, NR_134328.2:n.721C>T, NR_134328.1:n.780C>T, NM_001317986.2:c.702C>T, NM_001317986.1:c.702C>T

Select item 144969853115.

rs1449698531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28855253 (GRCh38)
17:27182271 (GRCh37)
Canonical SPDI:: NC_000017.11:28855252:C:T
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28855253C>T, NC_000017.10:g.27182271C>T, NM_005702.4:c.219C>T, NM_005702.3:c.219C>T, NM_005702.2:c.219C>T, NM_001317985.2:c.219C>T, NM_001317985.1:c.219C>T, NR_134328.2:n.238C>T, NR_134328.1:n.297C>T, NM_001317986.2:c.219C>T, NM_001317986.1:c.219C>T

Select item 144968324916.

rs1449683249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28855272 (GRCh38)
17:27182290 (GRCh37)
Canonical SPDI:: NC_000017.11:28855271:G:A
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28855272G>A, NC_000017.10:g.27182290G>A, NM_005702.4:c.238G>A, NM_005702.3:c.238G>A, NM_005702.2:c.238G>A, NM_001317985.2:c.238G>A, NM_001317985.1:c.238G>A, NR_134328.2:n.257G>A, NR_134328.1:n.316G>A, NM_001317986.2:c.238G>A, NM_001317986.1:c.238G>A, NP_005693.1:p.Asp80Asn, NP_001304914.1:p.Asp80Asn, NP_001304915.1:p.Asp80Asn

Select item 144355114717.

rs1443551147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:28855105 (GRCh38)
17:27182123 (GRCh37)
Canonical SPDI:: NC_000017.11:28855104:A:G
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_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.28855105A>G, NC_000017.10:g.27182123A>G, NM_005702.4:c.71A>G, NM_005702.3:c.71A>G, NM_005702.2:c.71A>G, NM_001317985.2:c.71A>G, NM_001317985.1:c.71A>G, NR_134328.2:n.90A>G, NR_134328.1:n.149A>G, NM_001317986.2:c.71A>G, NM_001317986.1:c.71A>G, NP_005693.1:p.His24Arg, NP_001304914.1:p.His24Arg, NP_001304915.1:p.His24Arg

Select item 144319040318.

rs1443190403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:28858384 (GRCh38)
17:27185402 (GRCh37)
Canonical SPDI:: NC_000017.11:28858383:T:C
Gene:: ERAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.28858384T>C, NC_000017.10:g.27185402T>C, NM_005702.4:c.609T>C, NM_005702.3:c.609T>C, NM_005702.2:c.609T>C, NM_001317985.2:c.606T>C, NM_001317985.1:c.606T>C, NR_134328.2:n.628T>C, NR_134328.1:n.687T>C, NM_001317986.2:c.609T>C, NM_001317986.1:c.609T>C

Select item 143840274519.

rs1438402745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28858471 (GRCh38)
17:27185489 (GRCh37)
Canonical SPDI:: NC_000017.11:28858470:C:T
Gene:: ERAL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.28858471C>T, NC_000017.10:g.27185489C>T, NM_005702.4:c.696C>T, NM_005702.3:c.696C>T, NM_005702.2:c.696C>T, NM_001317985.2:c.693C>T, NM_001317985.1:c.693C>T, NR_134328.2:n.715C>T, NR_134328.1:n.774C>T, NM_001317986.2:c.696C>T, NM_001317986.1:c.696C>T

Select item 143605442420.

rs1436054424 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:28855308 (GRCh38)
17:27182326 (GRCh37)
Canonical SPDI:: NC_000017.11:28855307:A:C,NC_000017.11:28855307:A:G
Gene:: ERAL1 (Varview), FAM222B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28855308A>C, NC_000017.11:g.28855308A>G, NC_000017.10:g.27182326A>C, NC_000017.10:g.27182326A>G, NM_005702.4:c.274A>C, NM_005702.4:c.274A>G, NM_005702.3:c.274A>C, NM_005702.3:c.274A>G, NM_005702.2:c.274A>C, NM_005702.2:c.274A>G, NM_001317985.2:c.274A>C, NM_001317985.2:c.274A>G, NM_001317985.1:c.274A>C, NM_001317985.1:c.274A>G, NR_134328.2:n.293A>C, NR_134328.2:n.293A>G, NR_134328.1:n.352A>C, NR_134328.1:n.352A>G, NM_001317986.2:c.274A>C, NM_001317986.2:c.274A>G, NM_001317986.1:c.274A>C, NM_001317986.1:c.274A>G, NP_005693.1:p.Met92Leu, NP_005693.1:p.Met92Val, NP_001304914.1:p.Met92Leu, NP_001304914.1:p.Met92Val, NP_001304915.1:p.Met92Leu, NP_001304915.1:p.Met92Val

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