SNP Links for Nucleotide (Select 6715562) - SNP

Links from Nucleotide

Items: 1 to 20 of 188

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Select item 14826016831.

rs1482601683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:11293438 (GRCh38)
X:11311558 (GRCh37)
Canonical SPDI:: NC_000023.11:11293437:A:C
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.11293438A>C, NC_000023.10:g.11311558A>C, NG_012494.2:g.377264T>G, NG_012040.1:g.5026A>C, NM_001142.2:c.-43A>C, NM_182680.1:c.-43A>C, NM_182681.1:c.-43A>C

Select item 14776774012.

rs1477677401 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:11298247 (GRCh38)
X:11316367 (GRCh37)
Canonical SPDI:: NC_000023.11:11298246:T:C
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.11298247T>C, NC_000023.10:g.11316367T>C, NG_012494.2:g.372455A>G, NG_012040.1:g.9835T>C, NM_001142.2:c.114T>C, NM_182680.1:c.156T>C, NM_182681.1:c.66T>C, XM_017029404.3:c.114T>C, XM_017029404.2:c.114T>C, XM_017029404.1:c.114T>C

Select item 14681589123.

rs1468158912 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:11300702 (GRCh38)
X:11318822 (GRCh37)
Canonical SPDI:: NC_000023.11:11300701:T:C
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11300702T>C, NC_000023.10:g.11318822T>C, NG_012494.2:g.370000A>G, NG_012040.1:g.12290T>C, NM_001142.2:c.*90T>C, NM_182680.1:c.*90T>C, NM_182681.1:c.*90T>C

Select item 14638993844.

rs1463899384 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:11298941 (GRCh38)
X:11317061 (GRCh37)
Canonical SPDI:: NC_000023.11:11298940:C:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11298941C>T, NC_000023.10:g.11317061C>T, NG_012494.2:g.371761G>A, NG_012040.1:g.10529C>T, NM_001142.2:c.538C>T, NM_182680.1:c.580C>T, NM_182681.1:c.490C>T, XM_017029404.3:c.538C>T, XM_017029404.2:c.538C>T, XM_017029404.1:c.538C>T, NP_001133.1:p.Pro180Ser, NP_872621.1:p.Pro194Ser, NP_872622.1:p.Pro164Ser, XP_016884893.2:p.Pro180Ser

Select item 14602916535.

rs1460291653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:11300655 (GRCh38)
X:11318775 (GRCh37)
Canonical SPDI:: NC_000023.11:11300654:C:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11300655C>T, NC_000023.10:g.11318775C>T, NG_012494.2:g.370047G>A, NG_012040.1:g.12243C>T, NM_001142.2:c.*43C>T, NM_182680.1:c.*43C>T, NM_182681.1:c.*43C>T

Select item 14527602486.

rs1452760248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACTT>- [Show Flanks]
Chromosome:: X:11300699 (GRCh38)
X:11318819 (GRCh37)
Canonical SPDI:: NC_000023.11:11300694:ACTTTACTT:ACTT
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACTT=0.000142/2 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11300699_11300703del, NC_000023.10:g.11318819_11318823del, NG_012494.2:g.370003_370007del, NG_012040.1:g.12287_12291del, NM_001142.2:c.*87_*91del, NM_182680.1:c.*87_*91del, NM_182681.1:c.*87_*91del

Select item 14519074687.

rs1451907468 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAGCCTCACCAGCCCATGCAGCC [Show Flanks]
Chromosome:: X:11298799 (GRCh38)
X:11316920 (GRCh37)
Canonical SPDI:: NC_000023.11:11298799:CAGCCACAGCCTCACCAGCCCATGCAGCC:CAGCCACAGCCTCACCAGCCCATGCAGCCACAGCCTCACCAGCCCATGCAGCC
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,inframe_insertion
Validated:: by cluster
HGVS:: NC_000023.11:g.11298805_11298828dup, NC_000023.10:g.11316925_11316948dup, NG_012494.2:g.371879_371902dup, NG_012040.1:g.10393_10416dup, NM_001142.2:c.402_425dup, NM_182680.1:c.444_467dup, NM_182681.1:c.354_377dup, XM_017029404.3:c.402_425dup, XM_017029404.2:c.402_425dup, XM_017029404.1:c.402_425dup, NP_001133.1:p.His137_Pro144dup, NP_872621.1:p.His151_Pro158dup, NP_872622.1:p.His121_Pro128dup, XP_016884893.2:p.His137_Pro144dup

Select item 14470105238.

rs1447010523 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:11300750 (GRCh38)
X:11318870 (GRCh37)
Canonical SPDI:: NC_000023.11:11300749:C:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11300750C>T, NC_000023.10:g.11318870C>T, NG_012494.2:g.369952G>A, NG_012040.1:g.12338C>T, NM_001142.2:c.*138C>T, NM_182680.1:c.*138C>T, NM_182681.1:c.*138C>T

Select item 14467787729.

rs1446778772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:11298581 (GRCh38)
X:11316701 (GRCh37)
Canonical SPDI:: NC_000023.11:11298580:T:C
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11298581T>C, NC_000023.10:g.11316701T>C, NG_012494.2:g.372121A>G, NG_012040.1:g.10169T>C, NM_001142.2:c.178T>C, NM_182680.1:c.220T>C, NM_182681.1:c.130T>C, XM_017029404.3:c.178T>C, XM_017029404.2:c.178T>C, XM_017029404.1:c.178T>C, NP_001133.1:p.Trp60Arg, NP_872621.1:p.Trp74Arg, NP_872622.1:p.Trp44Arg, XP_016884893.2:p.Trp60Arg

Select item 144492166310.

rs1444921663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:11298748 (GRCh38)
X:11316868 (GRCh37)
Canonical SPDI:: NC_000023.11:11298747:C:G,NC_000023.11:11298747:C:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11298748C>G, NC_000023.11:g.11298748C>T, NC_000023.10:g.11316868C>G, NC_000023.10:g.11316868C>T, NG_012494.2:g.371954G>C, NG_012494.2:g.371954G>A, NG_012040.1:g.10336C>G, NG_012040.1:g.10336C>T, NM_001142.2:c.345C>G, NM_001142.2:c.345C>T, NM_182680.1:c.387C>G, NM_182680.1:c.387C>T, NM_182681.1:c.297C>G, NM_182681.1:c.297C>T, XM_017029404.3:c.345C>G, XM_017029404.3:c.345C>T, XM_017029404.2:c.345C>G, XM_017029404.2:c.345C>T, XM_017029404.1:c.345C>G, XM_017029404.1:c.345C>T, NP_001133.1:p.His115Gln, NP_872621.1:p.His129Gln, NP_872622.1:p.His99Gln, XP_016884893.2:p.His115Gln

Select item 142848482711.

rs1428484827 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:11298911 (GRCh38)
X:11317031 (GRCh37)
Canonical SPDI:: NC_000023.11:11298910:A:G
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11298911A>G, NC_000023.10:g.11317031A>G, NG_012494.2:g.371791T>C, NG_012040.1:g.10499A>G, NM_001142.2:c.508A>G, NM_182680.1:c.550A>G, NM_182681.1:c.460A>G, XM_017029404.3:c.508A>G, XM_017029404.2:c.508A>G, XM_017029404.1:c.508A>G, NP_001133.1:p.Met170Val, NP_872621.1:p.Met184Val, NP_872622.1:p.Met154Val, XP_016884893.2:p.Met170Val

Select item 142841562612.

rs1428415626 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:11300720 (GRCh38)
X:11318840 (GRCh37)
Canonical SPDI:: NC_000023.11:11300719:AAAAAA:AAAAA
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.11300725del, NC_000023.10:g.11318845del, NG_012494.2:g.369982del, NG_012040.1:g.12313del, NM_001142.2:c.*113del, NM_182680.1:c.*113del, NM_182681.1:c.*113del

Select item 141518372413.

rs1415183724 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:11300663 (GRCh38)
X:11318783 (GRCh37)
Canonical SPDI:: NC_000023.11:11300662:A:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000023.11:g.11300663A>T, NC_000023.10:g.11318783A>T, NG_012494.2:g.370039T>A, NG_012040.1:g.12251A>T, NM_001142.2:c.*51A>T, NM_182680.1:c.*51A>T, NM_182681.1:c.*51A>T

Select item 140780551614.

rs1407805516 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: X:11298737 (GRCh38)
X:11316857 (GRCh37)
Canonical SPDI:: NC_000023.11:11298736:A:G,NC_000023.11:11298736:A:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11298737A>G, NC_000023.11:g.11298737A>T, NC_000023.10:g.11316857A>G, NC_000023.10:g.11316857A>T, NG_012494.2:g.371965T>C, NG_012494.2:g.371965T>A, NG_012040.1:g.10325A>G, NG_012040.1:g.10325A>T, NM_001142.2:c.334A>G, NM_001142.2:c.334A>T, NM_182680.1:c.376A>G, NM_182680.1:c.376A>T, NM_182681.1:c.286A>G, NM_182681.1:c.286A>T, XM_017029404.3:c.334A>G, XM_017029404.3:c.334A>T, XM_017029404.2:c.334A>G, XM_017029404.2:c.334A>T, XM_017029404.1:c.334A>G, XM_017029404.1:c.334A>T, NP_001133.1:p.Ile112Val, NP_001133.1:p.Ile112Phe, NP_872621.1:p.Ile126Val, NP_872621.1:p.Ile126Phe, NP_872622.1:p.Ile96Val, NP_872622.1:p.Ile96Phe, XP_016884893.2:p.Ile112Val, XP_016884893.2:p.Ile112Phe

Select item 140709720315.

rs1407097203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:11298855 (GRCh38)
X:11316975 (GRCh37)
Canonical SPDI:: NC_000023.11:11298854:C:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11298855C>T, NC_000023.10:g.11316975C>T, NG_012494.2:g.371847G>A, NG_012040.1:g.10443C>T, NM_001142.2:c.452C>T, NM_182680.1:c.494C>T, NM_182681.1:c.404C>T, XM_017029404.3:c.452C>T, XM_017029404.2:c.452C>T, XM_017029404.1:c.452C>T, NP_001133.1:p.Pro151Leu, NP_872621.1:p.Pro165Leu, NP_872622.1:p.Pro135Leu, XP_016884893.2:p.Pro151Leu

Select item 140422525016.

rs1404225250 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:11296799 (GRCh38)
X:11314919 (GRCh37)
Canonical SPDI:: NC_000023.11:11296798:CCC:CC
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11296801del, NC_000023.10:g.11314921del, NG_012494.2:g.373903del, NG_012040.1:g.8389del, NM_001142.2:c.77del, NM_182680.1:c.77del, XM_017029404.3:c.77del, XM_017029404.2:c.77del, XM_017029404.1:c.77del, NP_001133.1:p.Pro26fs, NP_872621.1:p.Pro26fs, XP_016884893.2:p.Pro26fs

Select item 140320773617.

rs1403207736 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:11298842 (GRCh38)
X:11316962 (GRCh37)
Canonical SPDI:: NC_000023.11:11298841:C:T
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11298842C>T, NC_000023.10:g.11316962C>T, NG_012494.2:g.371860G>A, NG_012040.1:g.10430C>T, NM_001142.2:c.439C>T, NM_182680.1:c.481C>T, NM_182681.1:c.391C>T, XM_017029404.3:c.439C>T, XM_017029404.2:c.439C>T, XM_017029404.1:c.439C>T, NP_001133.1:p.His147Tyr, NP_872621.1:p.His161Tyr, NP_872622.1:p.His131Tyr, XP_016884893.2:p.His147Tyr

Select item 139350237518.

rs1393502375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:11298821 (GRCh38)
X:11316941 (GRCh37)
Canonical SPDI:: NC_000023.11:11298820:A:G
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.11298821A>G, NC_000023.10:g.11316941A>G, NG_012494.2:g.371881T>C, NG_012040.1:g.10409A>G, NM_001142.2:c.418A>G, NM_182680.1:c.460A>G, NM_182681.1:c.370A>G, XM_017029404.3:c.418A>G, XM_017029404.2:c.418A>G, XM_017029404.1:c.418A>G, NP_001133.1:p.Met140Val, NP_872621.1:p.Met154Val, NP_872622.1:p.Met124Val, XP_016884893.2:p.Met140Val

Select item 139039447519.

rs1390394475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:11298722 (GRCh38)
X:11316842 (GRCh37)
Canonical SPDI:: NC_000023.11:11298721:C:G
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.11298722C>G, NC_000023.10:g.11316842C>G, NG_012494.2:g.371980G>C, NG_012040.1:g.10310C>G, NM_001142.2:c.319C>G, NM_182680.1:c.361C>G, NM_182681.1:c.271C>G, XM_017029404.3:c.319C>G, XM_017029404.2:c.319C>G, XM_017029404.1:c.319C>G, NP_001133.1:p.His107Asp, NP_872621.1:p.His121Asp, NP_872622.1:p.His91Asp, XP_016884893.2:p.His107Asp

Select item 138558894120.

rs1385588941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:11300688 (GRCh38)
X:11318808 (GRCh37)
Canonical SPDI:: NC_000023.11:11300687:T:C
Gene:: AMELX (Varview), ARHGAP6 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.11300688T>C, NC_000023.10:g.11318808T>C, NG_012494.2:g.370014A>G, NG_012040.1:g.12276T>C, NM_001142.2:c.*76T>C, NM_182680.1:c.*76T>C, NM_182681.1:c.*76T>C

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