SNP Links for Nucleotide (Select 544063453) - SNP

Links from Nucleotide

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Select item 14898616941.

rs1489861694 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154546966 (GRCh38)
X:153775181 (GRCh37)
Canonical SPDI:: NC_000023.11:154546965:G:A
Gene:: G6PD (Varview), IKBKG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154546966G>A, NW_003871103.3:g.1980945G>A, NG_009015.2:g.5607C>T, NM_000402.4:c.-96C>T, NM_000402.3:c.-96C>T, NG_046714.1:g.556G>A, NG_009896.1:g.9723G>A, NC_000023.10:g.153775181G>A, NM_001360016.1:c.-186C>T

Select item 14889478832.

rs1488947883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154532779 (GRCh38)
X:153760994 (GRCh37)
Canonical SPDI:: NC_000023.11:154532778:C:T
Gene:: G6PD (Varview)
Functional Consequence:: coding_sequence_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.154532779C>T, NW_003871103.3:g.1966758C>T, NG_009015.2:g.19794G>A, NM_000402.4:c.1165G>A, NM_000402.3:c.1165G>A, NM_001042351.3:c.1075G>A, NM_001042351.2:c.1075G>A, NM_001042351.1:c.1075G>A, NM_001360016.2:c.1075G>A, NM_001360016.1:c.1075G>A, NC_000023.10:g.153760994C>T, NP_000393.4:p.Gly389Ser, NP_001035810.1:p.Gly359Ser, NP_001346945.1:p.Gly359Ser

Select item 14876245883.

rs1487624588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:154546078 (GRCh38)
X:153774293 (GRCh37)
Canonical SPDI:: NC_000023.11:154546077:G:A,NC_000023.11:154546077:G:T
Gene:: G6PD (Varview), IKBKG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.154546078G>A, NC_000023.11:g.154546078G>T, NW_003871103.3:g.1980057G>A, NW_003871103.3:g.1980057G>T, NG_009015.2:g.6495C>T, NG_009015.2:g.6495C>A, NM_000402.4:c.168C>T, NM_000402.4:c.168C>A, NM_000402.3:c.168C>T, NM_000402.3:c.168C>A, NM_001042351.3:c.78C>T, NM_001042351.3:c.78C>A, NM_001042351.2:c.78C>T, NM_001042351.2:c.78C>A, NM_001042351.1:c.78C>T, NM_001042351.1:c.78C>A, NM_001360016.2:c.78C>T, NM_001360016.2:c.78C>A, NM_001360016.1:c.78C>T, NM_001360016.1:c.78C>A, NG_009896.1:g.8835G>A, NG_009896.1:g.8835G>T, NC_000023.10:g.153774293G>A, NC_000023.10:g.153774293G>T, NP_000393.4:p.Phe56Leu, NP_001035810.1:p.Phe26Leu, NP_001346945.1:p.Phe26Leu

Select item 14866610924.

rs1486661092 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154534382 (GRCh38)
X:153762597 (GRCh37)
Canonical SPDI:: NC_000023.11:154534381:G:A
Gene:: G6PD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.154534382G>A, NW_003871103.3:g.1968361G>A, NG_009015.2:g.18191C>T, NM_000402.4:c.690C>T, NM_000402.3:c.690C>T, NM_001042351.3:c.600C>T, NM_001042351.2:c.600C>T, NM_001042351.1:c.600C>T, NM_001360016.2:c.600C>T, NM_001360016.1:c.600C>T, NC_000023.10:g.153762597G>A

Select item 14856654415.

rs1485665441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154546962 (GRCh38)
X:153775177 (GRCh37)
Canonical SPDI:: NC_000023.11:154546961:G:A
Gene:: G6PD (Varview), IKBKG (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154546962G>A, NW_003871103.3:g.1980941G>A, NG_009015.2:g.5611C>T, NM_000402.4:c.-92C>T, NM_000402.3:c.-92C>T, NG_046714.1:g.552G>A, NG_009896.1:g.9719G>A, NC_000023.10:g.153775177G>A, NM_001360016.1:c.-182C>T

Select item 14820531436.

rs1482053143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154531506 (GRCh38)
X:153759721 (GRCh37)
Canonical SPDI:: NC_000023.11:154531505:G:A
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154531506G>A, NW_003871103.3:g.1965485G>A, NG_009015.2:g.21067C>T, NM_000402.4:c.*494C>T, NM_000402.3:c.*494C>T, NM_001042351.3:c.*494C>T, NM_001042351.2:c.*494C>T, NM_001042351.1:c.*494C>T, NM_001360016.2:c.*494C>T, NM_001360016.1:c.*494C>T, NC_000023.10:g.153759721G>A

Select item 14820199667.

rs1482019966 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154532613 (GRCh38)
X:153760828 (GRCh37)
Canonical SPDI:: NC_000023.11:154532612:T:C
Gene:: G6PD (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.154532613T>C, NW_003871103.3:g.1966592T>C, NG_009015.2:g.19960A>G, NM_000402.4:c.1331A>G, NM_000402.3:c.1331A>G, NM_001042351.3:c.1241A>G, NM_001042351.2:c.1241A>G, NM_001042351.1:c.1241A>G, NM_001360016.2:c.1241A>G, NM_001360016.1:c.1241A>G, NC_000023.10:g.153760828T>C, NP_000393.4:p.Asn444Ser, NP_001035810.1:p.Asn414Ser, NP_001346945.1:p.Asn414Ser

Select item 14804871418.

rs1480487141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154531852 (GRCh38)
X:153760067 (GRCh37)
Canonical SPDI:: NC_000023.11:154531851:T:C
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_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.154531852T>C, NW_003871103.3:g.1965831T>C, NG_009015.2:g.20721A>G, NM_000402.4:c.*148A>G, NM_000402.3:c.*148A>G, NM_001042351.3:c.*148A>G, NM_001042351.2:c.*148A>G, NM_001042351.1:c.*148A>G, NM_001360016.2:c.*148A>G, NM_001360016.1:c.*148A>G, NC_000023.10:g.153760067T>C

Select item 14799640749.

rs1479964074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154535235 (GRCh38)
X:153763450 (GRCh37)
Canonical SPDI:: NC_000023.11:154535234:G:A
Gene:: G6PD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.154535235G>A, NW_003871103.3:g.1969214G>A, NG_009015.2:g.17338C>T, NM_000402.4:c.508C>T, NM_000402.3:c.508C>T, NM_001042351.3:c.418C>T, NM_001042351.2:c.418C>T, NM_001042351.1:c.418C>T, NM_001360016.2:c.418C>T, NM_001360016.1:c.418C>T, NC_000023.10:g.153763450G>A

Select item 147858202710.

rs1478582027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154531763 (GRCh38)
X:153759978 (GRCh37)
Canonical SPDI:: NC_000023.11:154531762:G:A
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154531763G>A, NW_003871103.3:g.1965742G>A, NG_009015.2:g.20810C>T, NM_000402.4:c.*237C>T, NM_000402.3:c.*237C>T, NM_001042351.3:c.*237C>T, NM_001042351.2:c.*237C>T, NM_001042351.1:c.*237C>T, NM_001360016.2:c.*237C>T, NM_001360016.1:c.*237C>T, NC_000023.10:g.153759978G>A

Select item 147738015411.

rs1477380154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154531936 (GRCh38)
X:153760151 (GRCh37)
Canonical SPDI:: NC_000023.11:154531935:G:A
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.154531936G>A, NW_003871103.3:g.1965915G>A, NG_009015.2:g.20637C>T, NM_000402.4:c.*64C>T, NM_000402.3:c.*64C>T, NM_001042351.3:c.*64C>T, NM_001042351.2:c.*64C>T, NM_001042351.1:c.*64C>T, NM_001360016.2:c.*64C>T, NM_001360016.1:c.*64C>T, NC_000023.10:g.153760151G>A

Select item 147607110212.

rs1476071102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154534118 (GRCh38)
X:153762333 (GRCh37)
Canonical SPDI:: NC_000023.11:154534117:G:A
Gene:: G6PD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0./0 (KOREAN)
A=0.000005/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.154534118G>A, NW_003871103.3:g.1968097G>A, NG_009015.2:g.18455C>T, NM_000402.4:c.777C>T, NM_000402.3:c.777C>T, NM_001042351.3:c.687C>T, NM_001042351.2:c.687C>T, NM_001042351.1:c.687C>T, NM_001360016.2:c.687C>T, NM_001360016.1:c.687C>T, NC_000023.10:g.153762333G>A

Select item 146877523513.

rs1468775235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:154534367 (GRCh38)
X:153762582 (GRCh37)
Canonical SPDI:: NC_000023.11:154534366:C:T
Gene:: G6PD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
C=0.5/1 (Siberian)
C=0.5/7 (SGDP_PRJ)
HGVS:: NC_000023.11:g.154534367C>T, NW_003871103.3:g.1968346C>T, NG_009015.2:g.18206G>A, NM_000402.4:c.705G>A, NM_000402.3:c.705G>A, NM_001042351.3:c.615G>A, NM_001042351.2:c.615G>A, NM_001042351.1:c.615G>A, NM_001360016.2:c.615G>A, NM_001360016.1:c.615G>A, NC_000023.10:g.153762582C>T

Select item 146529151114.

rs1465291511 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:154532387 (GRCh38)
X:153760602 (GRCh37)
Canonical SPDI:: NC_000023.11:154532386:T:C
Gene:: G6PD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.154532387T>C, NW_003871103.3:g.1966366T>C, NG_009015.2:g.20186A>G, NM_000402.4:c.1453A>G, NM_000402.3:c.1453A>G, NM_001042351.3:c.1363A>G, NM_001042351.2:c.1363A>G, NM_001042351.1:c.1363A>G, NM_001360016.2:c.1363A>G, NM_001360016.1:c.1363A>G, NC_000023.10:g.153760602T>C, NP_000393.4:p.Ser485Gly, NP_001035810.1:p.Ser455Gly, NP_001346945.1:p.Ser455Gly

Select item 146512604615.

rs1465126046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154546902 (GRCh38)
X:153775117 (GRCh37)
Canonical SPDI:: NC_000023.11:154546901:G:A
Gene:: G6PD (Varview), IKBKG (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00002/2 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.154546902G>A, NW_003871103.3:g.1980881G>A, NG_009015.2:g.5671C>T, NM_000402.4:c.-32C>T, NM_000402.3:c.-32C>T, NG_046714.1:g.492G>A, NG_009896.1:g.9659G>A, NC_000023.10:g.153775117G>A, NM_001360016.1:c.-122C>T

Select item 146473190116.

rs1464731901 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:154531461 (GRCh38)
X:153759676 (GRCh37)
Canonical SPDI:: NC_000023.11:154531460:A:G
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000019/2 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.154531461A>G, NW_003871103.3:g.1965440A>G, NG_009015.2:g.21112T>C, NM_000402.4:c.*539T>C, NM_000402.3:c.*539T>C, NM_001042351.3:c.*539T>C, NM_001042351.2:c.*539T>C, NM_001042351.1:c.*539T>C, NM_001360016.2:c.*539T>C, NM_001360016.1:c.*539T>C, NC_000023.10:g.153759676A>G

Select item 146155717117.

rs1461557171 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154533638 (GRCh38)
X:153761853 (GRCh37)
Canonical SPDI:: NC_000023.11:154533637:G:A
Gene:: G6PD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.154533638G>A, NW_003871103.3:g.1967617G>A, NG_009015.2:g.18935C>T, NM_000402.4:c.892C>T, NM_000402.3:c.892C>T, NM_001042351.3:c.802C>T, NM_001042351.2:c.802C>T, NM_001042351.1:c.802C>T, NM_001360016.2:c.802C>T, NM_001360016.1:c.802C>T, NC_000023.10:g.153761853G>A

Select item 145772202218.

rs1457722022 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:154531759 (GRCh38)
X:153759974 (GRCh37)
Canonical SPDI:: NC_000023.11:154531758:A:T
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.154531759A>T, NW_003871103.3:g.1965738A>T, NG_009015.2:g.20814T>A, NM_000402.4:c.*241T>A, NM_000402.3:c.*241T>A, NM_001042351.3:c.*241T>A, NM_001042351.2:c.*241T>A, NM_001042351.1:c.*241T>A, NM_001360016.2:c.*241T>A, NM_001360016.1:c.*241T>A, NC_000023.10:g.153759974A>T

Select item 145541672319.

rs1455416723 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:154531625 (GRCh38)
X:153759840 (GRCh37)
Canonical SPDI:: NC_000023.11:154531624:C:G,NC_000023.11:154531624:C:T
Gene:: G6PD (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.154531625C>G, NC_000023.11:g.154531625C>T, NW_003871103.3:g.1965604C>G, NW_003871103.3:g.1965604C>T, NG_009015.2:g.20948G>C, NG_009015.2:g.20948G>A, NM_000402.4:c.*375G>C, NM_000402.4:c.*375G>A, NM_000402.3:c.*375G>C, NM_000402.3:c.*375G>A, NM_001042351.3:c.*375G>C, NM_001042351.3:c.*375G>A, NM_001042351.2:c.*375G>C, NM_001042351.2:c.*375G>A, NM_001042351.1:c.*375G>C, NM_001042351.1:c.*375G>A, NM_001360016.2:c.*375G>C, NM_001360016.2:c.*375G>A, NM_001360016.1:c.*375G>C, NM_001360016.1:c.*375G>A, NC_000023.10:g.153759840C>G, NC_000023.10:g.153759840C>T

Select item 145114549820.

rs1451145498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:154535218 (GRCh38)
X:153763433 (GRCh37)
Canonical SPDI:: NC_000023.11:154535217:G:A
Gene:: G6PD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000122/2 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000033/6 (GnomAD_exomes)
A=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.154535218G>A, NW_003871103.3:g.1969197G>A, NG_009015.2:g.17355C>T, NM_000402.4:c.525C>T, NM_000402.3:c.525C>T, NM_001042351.3:c.435C>T, NM_001042351.2:c.435C>T, NM_001042351.1:c.435C>T, NM_001360016.2:c.435C>T, NM_001360016.1:c.435C>T, NC_000023.10:g.153763433G>A

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