SNP Links for Protein (Select 15208654) - SNP

Links from Protein

Items: 1 to 20 of 261

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Select item 14871576331.

rs1487157633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18911018 (GRCh38)
22:18898531 (GRCh37)
Canonical SPDI:: NC_000022.11:18911017:C:T
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.18911018C>T, NC_000022.10:g.18898531C>T, NG_008226.3:g.30536G>A, NG_009052.1:g.9796C>T, NM_005675.6:c.503C>T, NM_005675.5:c.503C>T, NM_005675.4:c.503C>T, NM_001368242.2:c.503C>T, XM_047441510.1:c.296C>T, NM_001368242.1:c.503C>T, NP_005666.2:p.Thr168Ile, XP_047297466.1:p.Thr99Ile

Select item 14846225852.

rs1484622585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18906390 (GRCh38)
22:18893903 (GRCh37)
Canonical SPDI:: NC_000022.11:18906389:G:A
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
HGVS:: NC_000022.11:g.18906390G>A, NC_000022.10:g.18893903G>A, NG_009052.1:g.5168G>A, NM_005675.6:c.16G>A, NM_005675.5:c.16G>A, NM_005675.4:c.16G>A, NM_001368242.2:c.16G>A, XM_047441509.1:c.16G>A, NM_001368242.1:c.16G>A, NP_005666.2:p.Gly6Ser, XP_047297465.1:p.Gly6Ser

Select item 14835766973.

rs1483576697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18906622 (GRCh38)
22:18894135 (GRCh37)
Canonical SPDI:: NC_000022.11:18906621:C:T
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.18906622C>T, NC_000022.10:g.18894135C>T, NG_009052.1:g.5400C>T, NM_005675.6:c.168C>T, NM_005675.5:c.168C>T, NM_005675.4:c.168C>T, NM_001368242.2:c.168C>T, XM_047441509.1:c.168C>T, NM_001368242.1:c.168C>T

Select item 14806551144.

rs1480655114 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:18911019 (GRCh38)
22:18898532 (GRCh37)
Canonical SPDI:: NC_000022.11:18911018:C:G,NC_000022.11:18911018:C:T
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.00068/11 (TOMMO)
HGVS:: NC_000022.11:g.18911019C>G, NC_000022.11:g.18911019C>T, NC_000022.10:g.18898532C>G, NC_000022.10:g.18898532C>T, NG_008226.3:g.30535G>C, NG_008226.3:g.30535G>A, NG_009052.1:g.9797C>G, NG_009052.1:g.9797C>T, NM_005675.6:c.504C>G, NM_005675.6:c.504C>T, NM_005675.5:c.504C>G, NM_005675.5:c.504C>T, NM_005675.4:c.504C>G, NM_005675.4:c.504C>T, NM_001368242.2:c.504C>G, NM_001368242.2:c.504C>T, XM_047441510.1:c.297C>G, XM_047441510.1:c.297C>T, NM_001368242.1:c.504C>G, NM_001368242.1:c.504C>T

Select item 14801851915.

rs1480185191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:18906396 (GRCh38)
22:18893909 (GRCh37)
Canonical SPDI:: NC_000022.11:18906395:T:C
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18906396T>C, NC_000022.10:g.18893909T>C, NG_009052.1:g.5174T>C, NM_005675.6:c.22T>C, NM_005675.5:c.22T>C, NM_005675.4:c.22T>C, NM_001368242.2:c.22T>C, XM_047441509.1:c.22T>C, NM_001368242.1:c.22T>C

Select item 14791455746.

rs1479145574 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:18906626 (GRCh38)
22:18894139 (GRCh37)
Canonical SPDI:: NC_000022.11:18906625:G:C
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18906626G>C, NC_000022.10:g.18894139G>C, NG_009052.1:g.5404G>C, NM_005675.6:c.172G>C, NM_005675.5:c.172G>C, NM_005675.4:c.172G>C, NM_001368242.2:c.172G>C, XM_047441509.1:c.172G>C, NM_001368242.1:c.172G>C, NP_005666.2:p.Gly58Arg, XP_047297465.1:p.Gly58Arg

Select item 14780586347.

rs1478058634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:18911671 (GRCh38)
22:18899184 (GRCh37)
Canonical SPDI:: NC_000022.11:18911670:C:A
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.18911671C>A, NC_000022.10:g.18899184C>A, NG_008226.3:g.29883G>T, NG_009052.1:g.10449C>A, NM_005675.6:c.645C>A, NM_005675.5:c.645C>A, NM_005675.4:c.645C>A, NM_001368242.2:c.645C>A, XM_047441510.1:c.438C>A, NM_001368242.1:c.645C>A

Select item 14756679788.

rs1475667978 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 22:18910199 (GRCh38)
22:18897713 (GRCh37)
Canonical SPDI:: NC_000022.11:18910199:CC:CCCC
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000022.11:g.18910200_18910201dup, NC_000022.10:g.18897713_18897714dup, NG_009052.1:g.8978_8979dup, NM_005675.6:c.300_301dup, NM_005675.5:c.300_301dup, NM_005675.4:c.300_301dup, NM_001368242.2:c.300_301dup, XM_047441510.1:c.93_94dup, XM_047441509.1:c.419_420dup, NM_001368242.1:c.300_301dup, NP_005666.2:p.Gln101fs, XP_047297466.1:p.Gln32fs, XP_047297465.1:p.Arg141fs

Select item 14705134689.

rs1470513468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18911549 (GRCh38)
22:18899062 (GRCh37)
Canonical SPDI:: NC_000022.11:18911548:C:T
Gene:: DGCR6 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.18911549C>T, NC_000022.10:g.18899062C>T, NG_008226.3:g.30005G>A, NG_009052.1:g.10327C>T, NM_005675.6:c.523C>T, NM_005675.5:c.523C>T, NM_005675.4:c.523C>T, NM_001368242.2:c.523C>T, XM_047441510.1:c.316C>T, NM_001368242.1:c.523C>T

Select item 146578936610.

rs1465789366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:18911616 (GRCh38)
22:18899129 (GRCh37)
Canonical SPDI:: NC_000022.11:18911615:C:A
Gene:: DGCR6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18911616C>A, NC_000022.10:g.18899129C>A, NG_008226.3:g.29938G>T, NG_009052.1:g.10394C>A, NM_005675.6:c.590C>A, NM_005675.5:c.590C>A, NM_005675.4:c.590C>A, NM_001368242.2:c.590C>A, XM_047441510.1:c.383C>A, NM_001368242.1:c.590C>A, NP_005666.2:p.Ala197Asp, XP_047297466.1:p.Ala128Asp

Select item 146423652511.

rs1464236525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18910977 (GRCh38)
22:18898490 (GRCh37)
Canonical SPDI:: NC_000022.11:18910976:C:T
Gene:: DGCR6 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18910977C>T, NC_000022.10:g.18898490C>T, NG_008226.3:g.30577G>A, NG_009052.1:g.9755C>T, NM_005675.6:c.462C>T, NM_005675.5:c.462C>T, NM_005675.4:c.462C>T, NM_001368242.2:c.462C>T, XM_047441510.1:c.255C>T, NM_001368242.1:c.462C>T

Select item 146271683312.

rs1462716833 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 22:18910268 (GRCh38)
22:18897781 (GRCh37)
Canonical SPDI:: NC_000022.11:18910267:TA:
Gene:: DGCR6 (Varview)
Functional Consequence:: frameshift_variant,stop_lost,coding_sequence_variant,terminator_codon_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18910268_18910269del, NC_000022.10:g.18897781_18897782del, NG_009052.1:g.9046_9047del, NM_005675.6:c.368_369del, NM_005675.5:c.368_369del, NM_005675.4:c.368_369del, NM_001368242.2:c.368_369del, XM_047441510.1:c.161_162del, XM_047441509.1:c.487_488del, NM_001368242.1:c.368_369del, NP_005666.2:p.Leu123fs, XP_047297466.1:p.Leu54fs, XP_047297465.1:p.Ter163XaaextTer?

Select item 145373492313.

rs1453734923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:18906711 (GRCh38)
22:18894224 (GRCh37)
Canonical SPDI:: NC_000022.11:18906710:A:C
Gene:: DGCR6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.18906711A>C, NC_000022.10:g.18894224A>C, NG_009052.1:g.5489A>C, NM_005675.6:c.257A>C, NM_005675.5:c.257A>C, NM_005675.4:c.257A>C, NM_001368242.2:c.257A>C, XM_047441510.1:c.-70A>C, XM_047441509.1:c.257A>C, NM_001368242.1:c.257A>C, NP_005666.2:p.Gln86Pro, XP_047297465.1:p.Gln86Pro

Select item 145264499814.

rs1452644998 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18906717 (GRCh38)
22:18894230 (GRCh37)
Canonical SPDI:: NC_000022.11:18906716:A:G
Gene:: DGCR6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.18906717A>G, NC_000022.10:g.18894230A>G, NG_009052.1:g.5495A>G, NM_005675.6:c.263A>G, NM_005675.5:c.263A>G, NM_005675.4:c.263A>G, NM_001368242.2:c.263A>G, XM_047441510.1:c.-64A>G, XM_047441509.1:c.263A>G, NM_001368242.1:c.263A>G, NP_005666.2:p.Glu88Gly, XP_047297465.1:p.Glu88Gly

Select item 145077640015.

rs1450776400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18906453 (GRCh38)
22:18893966 (GRCh37)
Canonical SPDI:: NC_000022.11:18906452:G:A
Gene:: DGCR6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.18906453G>A, NC_000022.10:g.18893966G>A, NG_009052.1:g.5231G>A, NM_005675.6:c.79G>A, NM_005675.5:c.79G>A, NM_005675.4:c.79G>A, NM_001368242.2:c.79G>A, XM_047441509.1:c.79G>A, NM_001368242.1:c.79G>A, NP_005666.2:p.Ala27Thr, XP_047297465.1:p.Ala27Thr

Select item 144803177916.

rs1448031779 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:18906473 (GRCh38)
22:18893986 (GRCh37)
Canonical SPDI:: NC_000022.11:18906472:G:C
Gene:: DGCR6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.18906473G>C, NC_000022.10:g.18893986G>C, NG_009052.1:g.5251G>C, NM_005675.6:c.99G>C, NM_005675.5:c.99G>C, NM_005675.4:c.99G>C, NM_001368242.2:c.99G>C, XM_047441509.1:c.99G>C, NM_001368242.1:c.99G>C, NP_005666.2:p.Lys33Asn, XP_047297465.1:p.Lys33Asn

Select item 144681383117.

rs1446813831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:18911573 (GRCh38)
22:18899086 (GRCh37)
Canonical SPDI:: NC_000022.11:18911572:A:G
Gene:: DGCR6 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18911573A>G, NC_000022.10:g.18899086A>G, NG_008226.3:g.29981T>C, NG_009052.1:g.10351A>G, NM_005675.6:c.547A>G, NM_005675.5:c.547A>G, NM_005675.4:c.547A>G, NM_001368242.2:c.547A>G, XM_047441510.1:c.340A>G, NM_001368242.1:c.547A>G, NP_005666.2:p.Ile183Val, XP_047297466.1:p.Ile114Val

Select item 144239070018.

rs1442390700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:18910236 (GRCh38)
22:18897749 (GRCh37)
Canonical SPDI:: NC_000022.11:18910235:G:A
Gene:: DGCR6 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18910236G>A, NC_000022.10:g.18897749G>A, NG_009052.1:g.9014G>A, NM_005675.6:c.336G>A, NM_005675.5:c.336G>A, NM_005675.4:c.336G>A, NM_001368242.2:c.336G>A, XM_047441510.1:c.129G>A, XM_047441509.1:c.455G>A, NM_001368242.1:c.336G>A, XP_047297465.1:p.Cys152Tyr

Select item 144039583419.

rs1440395834 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:18906413 (GRCh38)
22:18893926 (GRCh37)
Canonical SPDI:: NC_000022.11:18906412:C:T
Gene:: DGCR6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000022.11:g.18906413C>T, NC_000022.10:g.18893926C>T, NG_009052.1:g.5191C>T, NM_005675.6:c.39C>T, NM_005675.5:c.39C>T, NM_005675.4:c.39C>T, NM_001368242.2:c.39C>T, XM_047441509.1:c.39C>T, NM_001368242.1:c.39C>T

Select item 143820322220.

rs1438203222 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:18906664 (GRCh38)
22:18894177 (GRCh37)
Canonical SPDI:: NC_000022.11:18906663:C:G
Gene:: DGCR6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.18906664C>G, NC_000022.10:g.18894177C>G, NG_009052.1:g.5442C>G, NM_005675.6:c.210C>G, NM_005675.5:c.210C>G, NM_005675.4:c.210C>G, NM_001368242.2:c.210C>G, XM_047441510.1:c.-117C>G, XM_047441509.1:c.210C>G, NM_001368242.1:c.210C>G, NP_005666.2:p.Ile70Met, XP_047297465.1:p.Ile70Met

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