SNP Links for Protein (Select 768711649) - SNP

Links from Protein

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Select item 14885155691.

rs1488515569 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCC [Show Flanks]
Chromosome:: 6:41909435 (GRCh38)
6:41877174 (GRCh37)
Canonical SPDI:: NC_000006.12:41909435::CCC
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,inframe_indel,intron_variant
Validated:: by frequency,by alfa
MAF:: CCC=0./0 (ALFA)
CCC=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.41909435_41909436insCCC, NC_000006.11:g.41877173_41877174insCCC, NG_042059.1:g.16712_16713insGGG, NM_004275.5:c.256_257insGGG, NM_004275.4:c.256_257insGGG, NM_004275.3:c.256_257insGGG, NM_001305456.2:c.70_71insGGG, NM_001305456.1:c.70_71insGGG, NM_001305457.2:c.256_257insGGG, NM_001305457.1:c.256_257insGGG, NM_001305455.2:c.70_71insGGG, NM_001305455.1:c.70_71insGGG, NP_004266.2:p.Ile86delinsArgVal, NP_001292385.1:p.Ile24delinsArgVal, NP_001292386.1:p.Ile86delinsArgVal, NP_001292384.1:p.Ile24delinsArgVal

Select item 14855108892.

rs1485510889 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:41909289 (GRCh38)
6:41877027 (GRCh37)
Canonical SPDI:: NC_000006.12:41909288:C:T
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.41909289C>T, NC_000006.11:g.41877027C>T, NG_042059.1:g.16859G>A, NM_004275.5:c.403G>A, NM_004275.4:c.403G>A, NM_004275.3:c.403G>A, NM_001305456.2:c.217G>A, NM_001305456.1:c.217G>A, NM_001305455.2:c.217G>A, NM_001305455.1:c.217G>A, NP_004266.2:p.Ala135Thr, NP_001292385.1:p.Ala73Thr, NP_001292384.1:p.Ala73Thr

Select item 14774905273.

rs1477490527 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41909486 (GRCh38)
6:41877224 (GRCh37)
Canonical SPDI:: NC_000006.12:41909485:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41909486G>A, NC_000006.11:g.41877224G>A, NG_042059.1:g.16662C>T, NM_004275.5:c.206C>T, NM_004275.4:c.206C>T, NM_004275.3:c.206C>T, NM_001305456.2:c.20C>T, NM_001305456.1:c.20C>T, NM_001305457.2:c.206C>T, NM_001305457.1:c.206C>T, NM_001305455.2:c.20C>T, NM_001305455.1:c.20C>T, NP_004266.2:p.Ser69Leu, NP_001292385.1:p.Ser7Leu, NP_001292386.1:p.Ser69Leu, NP_001292384.1:p.Ser7Leu

Select item 14724824574.

rs1472482457 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:41907255 (GRCh38)
6:41874993 (GRCh37)
Canonical SPDI:: NC_000006.12:41907254:G:C
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41907255G>C, NC_000006.11:g.41874993G>C, NG_042059.1:g.18893C>G, NM_004275.5:c.456C>G, NM_004275.4:c.456C>G, NM_004275.3:c.456C>G, NM_001305456.2:c.270C>G, NM_001305456.1:c.270C>G, NM_001305457.2:c.*8C>G, NM_001305457.1:c.*8C>G, NM_001305455.2:c.270C>G, NM_001305455.1:c.270C>G, NR_131160.2:n.323C>G, NR_131160.1:n.331C>G, NP_004266.2:p.Asp152Glu, NP_001292385.1:p.Asp90Glu, NP_001292384.1:p.Asp90Glu

Select item 14699176615.

rs1469917661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:41909283 (GRCh38)
6:41877021 (GRCh37)
Canonical SPDI:: NC_000006.12:41909282:C:T
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.41909283C>T, NC_000006.11:g.41877021C>T, NG_042059.1:g.16865G>A, NM_004275.5:c.409G>A, NM_004275.4:c.409G>A, NM_004275.3:c.409G>A, NM_001305456.2:c.223G>A, NM_001305456.1:c.223G>A, NM_001305455.2:c.223G>A, NM_001305455.1:c.223G>A, NP_004266.2:p.Gly137Ser, NP_001292385.1:p.Gly75Ser, NP_001292384.1:p.Gly75Ser

Select item 14667870336.

rs1466787033 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:41907183 (GRCh38)
6:41874921 (GRCh37)
Canonical SPDI:: NC_000006.12:41907182:A:G
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41907183A>G, NC_000006.11:g.41874921A>G, NG_042059.1:g.18965T>C, NM_004275.5:c.528T>C, NM_004275.4:c.528T>C, NM_004275.3:c.528T>C, NM_001305456.2:c.342T>C, NM_001305456.1:c.342T>C, NM_001305457.2:c.*80T>C, NM_001305457.1:c.*80T>C, NM_001305455.2:c.342T>C, NM_001305455.1:c.342T>C, NR_131160.2:n.395T>C, NR_131160.1:n.403T>C

Select item 14653870797.

rs1465387079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41909335 (GRCh38)
6:41877073 (GRCh37)
Canonical SPDI:: NC_000006.12:41909334:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: synonymous_variant,genic_upstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41909335G>A, NC_000006.11:g.41877073G>A, NG_042059.1:g.16813C>T, NM_004275.5:c.357C>T, NM_004275.4:c.357C>T, NM_004275.3:c.357C>T, NM_001305456.2:c.171C>T, NM_001305456.1:c.171C>T, NM_001305455.2:c.171C>T, NM_001305455.1:c.171C>T

Select item 14573147068.

rs1457314706 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:41907172 (GRCh38)
6:41874910 (GRCh37)
Canonical SPDI:: NC_000006.12:41907171:T:C
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.41907172T>C, NC_000006.11:g.41874910T>C, NG_042059.1:g.18976A>G, NM_004275.5:c.539A>G, NM_004275.4:c.539A>G, NM_004275.3:c.539A>G, NM_001305456.2:c.353A>G, NM_001305456.1:c.353A>G, NM_001305457.2:c.*91A>G, NM_001305457.1:c.*91A>G, NM_001305455.2:c.353A>G, NM_001305455.1:c.353A>G, NR_131160.2:n.406A>G, NR_131160.1:n.414A>G, NP_004266.2:p.His180Arg, NP_001292385.1:p.His118Arg, NP_001292384.1:p.His118Arg

Select item 14555176349.

rs1455517634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:41909433 (GRCh38)
6:41877171 (GRCh37)
Canonical SPDI:: NC_000006.12:41909432:C:T
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41909433C>T, NC_000006.11:g.41877171C>T, NG_042059.1:g.16715G>A, NM_004275.5:c.259G>A, NM_004275.4:c.259G>A, NM_004275.3:c.259G>A, NM_001305456.2:c.73G>A, NM_001305456.1:c.73G>A, NM_001305457.2:c.259G>A, NM_001305457.1:c.259G>A, NM_001305455.2:c.73G>A, NM_001305455.1:c.73G>A, NP_004266.2:p.Ala87Thr, NP_001292385.1:p.Ala25Thr, NP_001292386.1:p.Ala87Thr, NP_001292384.1:p.Ala25Thr

Select item 144956738910.

rs1449567389 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:41909400 (GRCh38)
6:41877138 (GRCh37)
Canonical SPDI:: NC_000006.12:41909399:G:A,NC_000006.12:41909399:G:C
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.41909400G>A, NC_000006.12:g.41909400G>C, NC_000006.11:g.41877138G>A, NC_000006.11:g.41877138G>C, NG_042059.1:g.16748C>T, NG_042059.1:g.16748C>G, NM_004275.5:c.292C>T, NM_004275.5:c.292C>G, NM_004275.4:c.292C>T, NM_004275.4:c.292C>G, NM_004275.3:c.292C>T, NM_004275.3:c.292C>G, NM_001305456.2:c.106C>T, NM_001305456.2:c.106C>G, NM_001305456.1:c.106C>T, NM_001305456.1:c.106C>G, NM_001305457.2:c.292C>T, NM_001305457.2:c.292C>G, NM_001305457.1:c.292C>T, NM_001305457.1:c.292C>G, NM_001305455.2:c.106C>T, NM_001305455.2:c.106C>G, NM_001305455.1:c.106C>T, NM_001305455.1:c.106C>G, NP_004266.2:p.Leu98Phe, NP_004266.2:p.Leu98Val, NP_001292385.1:p.Leu36Phe, NP_001292385.1:p.Leu36Val, NP_001292386.1:p.Leu98Phe, NP_001292386.1:p.Leu98Val, NP_001292384.1:p.Leu36Phe, NP_001292384.1:p.Leu36Val

Select item 144194079111.

rs1441940791 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41907205 (GRCh38)
6:41874943 (GRCh37)
Canonical SPDI:: NC_000006.12:41907204:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.41907205G>A, NC_000006.11:g.41874943G>A, NG_042059.1:g.18943C>T, NM_004275.5:c.506C>T, NM_004275.4:c.506C>T, NM_004275.3:c.506C>T, NM_001305456.2:c.320C>T, NM_001305456.1:c.320C>T, NM_001305457.2:c.*58C>T, NM_001305457.1:c.*58C>T, NM_001305455.2:c.320C>T, NM_001305455.1:c.320C>T, NR_131160.2:n.373C>T, NR_131160.1:n.381C>T, NP_004266.2:p.Thr169Ile, NP_001292385.1:p.Thr107Ile, NP_001292384.1:p.Thr107Ile

Select item 143490357112.

rs1434903571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:41909460 (GRCh38)
6:41877198 (GRCh37)
Canonical SPDI:: NC_000006.12:41909459:G:C
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00007/1 (ALFA)
HGVS:: NC_000006.12:g.41909460G>C, NC_000006.11:g.41877198G>C, NG_042059.1:g.16688C>G, NM_004275.5:c.232C>G, NM_004275.4:c.232C>G, NM_004275.3:c.232C>G, NM_001305456.2:c.46C>G, NM_001305456.1:c.46C>G, NM_001305457.2:c.232C>G, NM_001305457.1:c.232C>G, NM_001305455.2:c.46C>G, NM_001305455.1:c.46C>G, NP_004266.2:p.Leu78Val, NP_001292385.1:p.Leu16Val, NP_001292386.1:p.Leu78Val, NP_001292384.1:p.Leu16Val

Select item 143397691913.

rs1433976919 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:41907249 (GRCh38)
6:41874987 (GRCh37)
Canonical SPDI:: NC_000006.12:41907248:CC:C
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: stop_gained,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41907250del, NC_000006.11:g.41874988del, NG_042059.1:g.18899del, NM_004275.5:c.462del, NM_004275.4:c.462del, NM_004275.3:c.462del, NM_001305456.2:c.276del, NM_001305456.1:c.276del, NM_001305457.2:c.*14del, NM_001305457.1:c.*14del, NM_001305455.2:c.276del, NM_001305455.1:c.276del, NR_131160.2:n.329del, NR_131160.1:n.337del, NP_004266.2:p.Cys153_Trp154insTer, NP_001292385.1:p.Cys91_Trp92insTer, NP_001292384.1:p.Cys91_Trp92insTer

Select item 141014319414.

rs1410143194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41907252 (GRCh38)
6:41874990 (GRCh37)
Canonical SPDI:: NC_000006.12:41907251:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41907252G>A, NC_000006.11:g.41874990G>A, NG_042059.1:g.18896C>T, NM_004275.5:c.459C>T, NM_004275.4:c.459C>T, NM_004275.3:c.459C>T, NM_001305456.2:c.273C>T, NM_001305456.1:c.273C>T, NM_001305457.2:c.*11C>T, NM_001305457.1:c.*11C>T, NM_001305455.2:c.273C>T, NM_001305455.1:c.273C>T, NR_131160.2:n.326C>T, NR_131160.1:n.334C>T

Select item 140187989115.

rs1401879891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41907092 (GRCh38)
6:41874830 (GRCh37)
Canonical SPDI:: NC_000006.12:41907091:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41907092G>A, NC_000006.11:g.41874830G>A, NG_042059.1:g.19056C>T, NM_004275.5:c.619C>T, NM_004275.4:c.619C>T, NM_004275.3:c.619C>T, NM_001305456.2:c.433C>T, NM_001305456.1:c.433C>T, NM_001305457.2:c.*171C>T, NM_001305457.1:c.*171C>T, NM_001305455.2:c.433C>T, NM_001305455.1:c.433C>T, NR_131160.2:n.486C>T, NR_131160.1:n.494C>T, NP_004266.2:p.Pro207Ser, NP_001292385.1:p.Pro145Ser, NP_001292384.1:p.Pro145Ser

Select item 140185553416.

rs1401855534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41907155 (GRCh38)
6:41874893 (GRCh37)
Canonical SPDI:: NC_000006.12:41907154:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41907155G>A, NC_000006.11:g.41874893G>A, NG_042059.1:g.18993C>T, NM_004275.5:c.556C>T, NM_004275.4:c.556C>T, NM_004275.3:c.556C>T, NM_001305456.2:c.370C>T, NM_001305456.1:c.370C>T, NM_001305457.2:c.*108C>T, NM_001305457.1:c.*108C>T, NM_001305455.2:c.370C>T, NM_001305455.1:c.370C>T, NR_131160.2:n.423C>T, NR_131160.1:n.431C>T, NP_004266.2:p.Pro186Ser, NP_001292385.1:p.Pro124Ser, NP_001292384.1:p.Pro124Ser

Select item 140082338517.

rs1400823385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41907173 (GRCh38)
6:41874911 (GRCh37)
Canonical SPDI:: NC_000006.12:41907172:G:A
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000006.12:g.41907173G>A, NC_000006.11:g.41874911G>A, NG_042059.1:g.18975C>T, NM_004275.5:c.538C>T, NM_004275.4:c.538C>T, NM_004275.3:c.538C>T, NM_001305456.2:c.352C>T, NM_001305456.1:c.352C>T, NM_001305457.2:c.*90C>T, NM_001305457.1:c.*90C>T, NM_001305455.2:c.352C>T, NM_001305455.1:c.352C>T, NR_131160.2:n.405C>T, NR_131160.1:n.413C>T, NP_004266.2:p.His180Tyr, NP_001292385.1:p.His118Tyr, NP_001292384.1:p.His118Tyr

Select item 139836659918.

rs1398366599 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 6:41907237 (GRCh38)
6:41874975 (GRCh37)
Canonical SPDI:: NC_000006.12:41907236:G:
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: frameshift_variant,2KB_upstream_variant,3_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.41907237del, NC_000006.11:g.41874975del, NG_042059.1:g.18911del, NM_004275.5:c.474del, NM_004275.4:c.474del, NM_004275.3:c.474del, NM_001305456.2:c.288del, NM_001305456.1:c.288del, NM_001305457.2:c.*26del, NM_001305457.1:c.*26del, NM_001305455.2:c.288del, NM_001305455.1:c.288del, NR_131160.2:n.341del, NR_131160.1:n.349del, NP_004266.2:p.Glu159fs, NP_001292385.1:p.Glu97fs, NP_001292384.1:p.Glu97fs

Select item 139585772919.

rs1395857729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:41909408 (GRCh38)
6:41877146 (GRCh37)
Canonical SPDI:: NC_000006.12:41909407:A:G
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.41909408A>G, NC_000006.11:g.41877146A>G, NG_042059.1:g.16740T>C, NM_004275.5:c.284T>C, NM_004275.4:c.284T>C, NM_004275.3:c.284T>C, NM_001305456.2:c.98T>C, NM_001305456.1:c.98T>C, NM_001305457.2:c.284T>C, NM_001305457.1:c.284T>C, NM_001305455.2:c.98T>C, NM_001305455.1:c.98T>C, NP_004266.2:p.Met95Thr, NP_001292385.1:p.Met33Thr, NP_001292386.1:p.Met95Thr, NP_001292384.1:p.Met33Thr

Select item 139093218220.

rs1390932182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:41907084 (GRCh38)
6:41874822 (GRCh37)
Canonical SPDI:: NC_000006.12:41907083:A:G
Gene:: BYSL (Varview), MED20 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41907084A>G, NC_000006.11:g.41874822A>G, NG_042059.1:g.19064T>C, NM_004275.5:c.627T>C, NM_004275.4:c.627T>C, NM_004275.3:c.627T>C, NM_001305456.2:c.441T>C, NM_001305456.1:c.441T>C, NM_001305457.2:c.*179T>C, NM_001305457.1:c.*179T>C, NM_001305455.2:c.441T>C, NM_001305455.1:c.441T>C, NR_131160.2:n.494T>C, NR_131160.1:n.502T>C

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