SNP Links for Nucleotide (Select 281485578) - SNP

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Select item 14910392921.

rs1491039292 has merged into rs773345817 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:111717549 (GRCh38)
X:110960777 (GRCh37)
Canonical SPDI:: NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:111717541:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ALG13 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.111717549_111717560del, NC_000023.11:g.111717552_111717560del, NC_000023.11:g.111717555_111717560del, NC_000023.11:g.111717556_111717560del, NC_000023.11:g.111717557_111717560del, NC_000023.11:g.111717558_111717560del, NC_000023.11:g.111717559_111717560del, NC_000023.11:g.111717560del, NC_000023.11:g.111717560dup, NC_000023.11:g.111717559_111717560dup, NC_000023.11:g.111717558_111717560dup, NC_000023.11:g.111717557_111717560dup, NC_000023.11:g.111717556_111717560dup, NC_000023.11:g.111717549_111717560dup, NC_000023.11:g.111717548_111717560dup, NC_000023.10:g.110960777_110960788del, NC_000023.10:g.110960780_110960788del, NC_000023.10:g.110960783_110960788del, NC_000023.10:g.110960784_110960788del, NC_000023.10:g.110960785_110960788del, NC_000023.10:g.110960786_110960788del, NC_000023.10:g.110960787_110960788del, NC_000023.10:g.110960788del, NC_000023.10:g.110960788dup, NC_000023.10:g.110960787_110960788dup, NC_000023.10:g.110960786_110960788dup, NC_000023.10:g.110960785_110960788dup, NC_000023.10:g.110960784_110960788dup, NC_000023.10:g.110960777_110960788dup, NC_000023.10:g.110960776_110960788dup, NG_016238.1:g.41432_41443del, NG_016238.1:g.41435_41443del, NG_016238.1:g.41438_41443del, NG_016238.1:g.41439_41443del, NG_016238.1:g.41440_41443del, NG_016238.1:g.41441_41443del, NG_016238.1:g.41442_41443del, NG_016238.1:g.41443del, NG_016238.1:g.41443dup, NG_016238.1:g.41442_41443dup, NG_016238.1:g.41441_41443dup, NG_016238.1:g.41440_41443dup, NG_016238.1:g.41439_41443dup, NG_016238.1:g.41432_41443dup, NG_016238.1:g.41431_41443dup

Select item 14910124012.

rs1491012401 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: X:111744771 (GRCh38)
X:110987999 (GRCh37)
Canonical SPDI:: NC_000023.11:111744769:CTC:C
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.111744771_111744772del, NC_000023.10:g.110987999_110988000del, NG_016238.1:g.68654_68655del, NM_001099922.3:c.2799_2800del, NM_001099922.2:c.2799_2800del, NM_001257231.2:c.2565_2566del, NM_001257231.1:c.2565_2566del, XM_011531033.4:c.2559_2560del, XM_011531033.3:c.2559_2560del, XM_011531033.2:c.2559_2560del, XM_011531033.1:c.2559_2560del, XM_006724698.4:c.2559_2560del, XM_006724698.3:c.2559_2560del, XM_006724698.2:c.2559_2560del, XM_006724698.1:c.2487_2488del, XM_006724697.4:c.2559_2560del, XM_006724697.3:c.2559_2560del, XM_006724697.2:c.2559_2560del, XM_006724697.1:c.2487_2488del, XM_006724693.4:c.2760_2761del, XM_006724693.3:c.2760_2761del, XM_006724693.2:c.2760_2761del, XM_006724693.1:c.2760_2761del, XM_011531028.3:c.2871_2872del, XM_011531028.2:c.2871_2872del, XM_011531028.1:c.2871_2872del, XM_011531034.3:c.2262_2263del, XM_011531034.2:c.2262_2263del, XM_011531034.1:c.2262_2263del, XM_011531031.2:c.2559_2560del, XM_011531031.1:c.2559_2560del, XM_017029846.2:c.2847_2848del, XM_017029846.1:c.2847_2848del, XM_017029847.2:c.2832_2833del, XM_017029847.1:c.2832_2833del, XM_011531032.2:c.2559_2560del, XM_011531032.1:c.2559_2560del, XM_017029852.2:c.1902_1903del, XM_017029852.1:c.1902_1903del, NR_033127.1:n.2914_2915del, XM_047442520.1:c.2775_2776del, XM_047442524.1:c.2487_2488del, XM_047442521.1:c.2700_2701del, XM_047442522.1:c.2628_2629del, XM_047442526.1:c.2067_2068del, XM_047442529.1:c.1548_1549del, XM_047442528.1:c.1620_1621del, XM_047442527.1:c.1875_1876del, XM_047442531.1:c.1395_1396del, XM_047442530.1:c.1416_1417del, NP_001093392.1:p.Pro934fs, NP_001244160.1:p.Pro856fs, XP_011529335.1:p.Pro854fs, XP_006724761.2:p.Pro854fs, XP_006724760.2:p.Pro854fs, XP_006724756.1:p.Pro921fs, XP_011529330.1:p.Pro958fs, XP_011529336.1:p.Pro755fs, XP_011529333.1:p.Pro854fs, XP_016885335.1:p.Pro950fs, XP_016885336.1:p.Pro945fs, XP_011529334.1:p.Pro854fs, XP_016885341.1:p.Pro635fs, XP_047298476.1:p.Pro926fs, XP_047298480.1:p.Pro830fs, XP_047298477.1:p.Pro901fs, XP_047298478.1:p.Pro877fs, XP_047298482.1:p.Pro690fs, XP_047298485.1:p.Pro517fs, XP_047298484.1:p.Pro541fs, XP_047298483.1:p.Pro626fs, XP_047298487.1:p.Pro466fs, XP_047298486.1:p.Pro473fs

Select item 14909215953.

rs1490921595 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111725939 (GRCh38)
X:110969167 (GRCh37)
Canonical SPDI:: NC_000023.11:111725938:G:A
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000039/4 (GnomAD)
HGVS:: NC_000023.11:g.111725939G>A, NC_000023.10:g.110969167G>A, NG_016238.1:g.49822G>A

Select item 14908704154.

rs1490870415 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:111724591 (GRCh38)
X:110967819 (GRCh37)
Canonical SPDI:: NC_000023.11:111724590:T:C
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.111724591T>C, NC_000023.10:g.110967819T>C, NG_016238.1:g.48474T>C

Select item 14908265515.

rs1490826551 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:111687523 (GRCh38)
X:110930751 (GRCh37)
Canonical SPDI:: NC_000023.11:111687522:C:G,NC_000023.11:111687522:C:T
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111687523C>G, NC_000023.11:g.111687523C>T, NC_000023.10:g.110930751C>G, NC_000023.10:g.110930751C>T, NG_016238.1:g.11406C>G, NG_016238.1:g.11406C>T

Select item 14908031516.

rs1490803151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:111737554 (GRCh38)
X:110980782 (GRCh37)
Canonical SPDI:: NC_000023.11:111737553:C:A
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.111737554C>A, NC_000023.10:g.110980782C>A, NG_016238.1:g.61437C>A

Select item 14908024157.

rs1490802415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:111739370 (GRCh38)
X:110982598 (GRCh37)
Canonical SPDI:: NC_000023.11:111739369:G:A
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000216/4 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.111739370G>A, NC_000023.10:g.110982598G>A, NG_016238.1:g.63253G>A

Select item 14907984708.

rs1490798470 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:111743588 (GRCh38)
X:110986816 (GRCh37)
Canonical SPDI:: NC_000023.11:111743587:G:T
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.111743588G>T, NC_000023.10:g.110986816G>T, NG_016238.1:g.67471G>T

Select item 14907269869.

rs1490726986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:111692084 (GRCh38)
X:110935312 (GRCh37)
Canonical SPDI:: NC_000023.11:111692083:A:G
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.111692084A>G, NC_000023.10:g.110935312A>G, NG_016238.1:g.15967A>G

Select item 149069605410.

rs1490696054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:111690994 (GRCh38)
X:110934222 (GRCh37)
Canonical SPDI:: NC_000023.11:111690993:T:C
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.111690994T>C, NC_000023.10:g.110934222T>C, NG_016238.1:g.14877T>C

Select item 149063104311.

rs1490631043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:111713258 (GRCh38)
X:110956486 (GRCh37)
Canonical SPDI:: NC_000023.11:111713257:A:C,NC_000023.11:111713257:A:G
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.111713258A>C, NC_000023.11:g.111713258A>G, NC_000023.10:g.110956486A>C, NC_000023.10:g.110956486A>G, NG_016238.1:g.37141A>C, NG_016238.1:g.37141A>G, NM_001099922.3:c.966A>C, NM_001099922.3:c.966A>G, NM_001099922.2:c.966A>C, NM_001099922.2:c.966A>G, NM_001257231.2:c.732A>C, NM_001257231.2:c.732A>G, NM_001257231.1:c.732A>C, NM_001257231.1:c.732A>G, NM_001257237.2:c.654A>C, NM_001257237.2:c.654A>G, NM_001257237.1:c.654A>C, NM_001257237.1:c.654A>G, NM_001257234.2:c.654A>C, NM_001257234.2:c.654A>G, NM_001257234.1:c.654A>C, NM_001257234.1:c.654A>G, NM_001324292.2:c.966A>C, NM_001324292.2:c.966A>G, NM_001324292.1:c.966A>C, NM_001324292.1:c.966A>G, NM_001257230.2:c.654A>C, NM_001257230.2:c.654A>G, NM_001257230.1:c.654A>C, NM_001257230.1:c.654A>G, NR_148693.2:n.917A>C, NR_148693.2:n.917A>G, NR_148693.1:n.969A>C, NR_148693.1:n.969A>G, NM_001324293.1:c.654A>C, NM_001324293.1:c.654A>G, XM_011531033.4:c.654A>C, XM_011531033.4:c.654A>G, XM_011531033.3:c.654A>C, XM_011531033.3:c.654A>G, XM_011531033.2:c.654A>C, XM_011531033.2:c.654A>G, XM_011531033.1:c.654A>C, XM_011531033.1:c.654A>G, XM_006724698.4:c.654A>C, XM_006724698.4:c.654A>G, XM_006724698.3:c.654A>C, XM_006724698.3:c.654A>G, XM_006724698.2:c.654A>C, XM_006724698.2:c.654A>G, XM_006724698.1:c.654A>C, XM_006724698.1:c.654A>G, XM_006724697.4:c.654A>C, XM_006724697.4:c.654A>G, XM_006724697.3:c.654A>C, XM_006724697.3:c.654A>G, XM_006724697.2:c.654A>C, XM_006724697.2:c.654A>G, XM_006724697.1:c.654A>C, XM_006724697.1:c.654A>G, XM_006724693.4:c.966A>C, XM_006724693.4:c.966A>G, XM_006724693.3:c.966A>C, XM_006724693.3:c.966A>G, XM_006724693.2:c.966A>C, XM_006724693.2:c.966A>G, XM_006724693.1:c.966A>C, XM_006724693.1:c.966A>G, XM_011531028.3:c.966A>C, XM_011531028.3:c.966A>G, XM_011531028.2:c.966A>C, XM_011531028.2:c.966A>G, XM_011531028.1:c.966A>C, XM_011531028.1:c.966A>G, XM_011531030.3:c.966A>C, XM_011531030.3:c.966A>G, XM_011531030.2:c.966A>C, XM_011531030.2:c.966A>G, XM_011531030.1:c.966A>C, XM_011531030.1:c.966A>G, XM_011531034.3:c.357A>C, XM_011531034.3:c.357A>G, XM_011531034.2:c.357A>C, XM_011531034.2:c.357A>G, XM_011531034.1:c.357A>C, XM_011531034.1:c.357A>G, XM_017029850.3:c.966A>C, XM_017029850.3:c.966A>G, XM_017029850.2:c.966A>C, XM_017029850.2:c.966A>G, XM_017029850.1:c.966A>C, XM_017029850.1:c.966A>G, XM_011531031.2:c.654A>C, XM_011531031.2:c.654A>G, XM_011531031.1:c.654A>C, XM_011531031.1:c.654A>G, XM_017029846.2:c.966A>C, XM_017029846.2:c.966A>G, XM_017029846.1:c.966A>C, XM_017029846.1:c.966A>G, XM_017029847.2:c.966A>C, XM_017029847.2:c.966A>G, XM_017029847.1:c.966A>C, XM_017029847.1:c.966A>G, XM_011531032.2:c.654A>C, XM_011531032.2:c.654A>G, XM_011531032.1:c.654A>C, XM_011531032.1:c.654A>G, XM_017029848.2:c.966A>C, XM_017029848.2:c.966A>G, XM_017029848.1:c.966A>C, XM_017029848.1:c.966A>G, XM_017029849.2:c.966A>C, XM_017029849.2:c.966A>G, XM_017029849.1:c.966A>C, XM_017029849.1:c.966A>G, XM_024452449.2:c.966A>C, XM_024452449.2:c.966A>G, XM_024452449.1:c.966A>C, XM_024452449.1:c.966A>G, NR_033127.1:n.1081A>C, NR_033127.1:n.1081A>G, XM_047442520.1:c.966A>C, XM_047442520.1:c.966A>G, XM_047442524.1:c.654A>C, XM_047442524.1:c.654A>G, NR_033131.1:n.1140A>C, NR_033131.1:n.1140A>G, NR_033128.1:n.1036A>C, NR_033128.1:n.1036A>G, XM_047442523.1:c.966A>C, XM_047442523.1:c.966A>G, NR_033124.1:n.963A>C, NR_033124.1:n.963A>G, XM_047442526.1:c.162A>C, XM_047442526.1:c.162A>G, XM_047442529.1:c.-286A>C, XM_047442529.1:c.-286A>G, XM_047442527.1:c.-11A>C, XM_047442527.1:c.-11A>G, NP_001093392.1:p.Lys322Asn, NP_001244160.1:p.Lys244Asn, NP_001244166.1:p.Lys218Asn, NP_001244163.1:p.Lys218Asn, NP_001311221.1:p.Lys322Asn, NP_001244159.1:p.Lys218Asn, NP_001311222.1:p.Lys218Asn, XP_011529335.1:p.Lys218Asn, XP_006724761.2:p.Lys218Asn, XP_006724760.2:p.Lys218Asn, XP_006724756.1:p.Lys322Asn, XP_011529330.1:p.Lys322Asn, XP_011529332.1:p.Lys322Asn, XP_011529336.1:p.Lys119Asn, XP_016885339.1:p.Lys322Asn, XP_011529333.1:p.Lys218Asn, XP_016885335.1:p.Lys322Asn, XP_016885336.1:p.Lys322Asn, XP_011529334.1:p.Lys218Asn, XP_016885337.1:p.Lys322Asn, XP_016885338.1:p.Lys322Asn, XP_024308217.1:p.Lys322Asn, XP_047298476.1:p.Lys322Asn, XP_047298480.1:p.Lys218Asn, XP_047298479.1:p.Lys322Asn, XP_047298482.1:p.Lys54Asn

Select item 149056247112.

rs1490562471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:111691464 (GRCh38)
X:110934692 (GRCh37)
Canonical SPDI:: NC_000023.11:111691463:A:G
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.111691464A>G, NC_000023.10:g.110934692A>G, NG_016238.1:g.15347A>G

Select item 149053907313.

rs1490539073 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: X:111715085 (GRCh38)
X:110958313 (GRCh37)
Canonical SPDI:: NC_000023.11:111715084:CC:C
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111715086del, NC_000023.10:g.110958314del, NG_016238.1:g.38969del

Select item 149052398414.

rs1490523984 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:111718978 (GRCh38)
X:110962206 (GRCh37)
Canonical SPDI:: NC_000023.11:111718977:G:A,NC_000023.11:111718977:G:C
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111718978G>A, NC_000023.11:g.111718978G>C, NC_000023.10:g.110962206G>A, NC_000023.10:g.110962206G>C, NG_016238.1:g.42861G>A, NG_016238.1:g.42861G>C

Select item 149044911315.

rs1490449113 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:111700757 (GRCh38)
X:110943985 (GRCh37)
Canonical SPDI:: NC_000023.11:111700756:T:G
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.111700757T>G, NC_000023.10:g.110943985T>G, NG_016238.1:g.24640T>G

Select item 149030735216.

rs1490307352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:111714750 (GRCh38)
X:110957978 (GRCh37)
Canonical SPDI:: NC_000023.11:111714749:C:T
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.111714750C>T, NC_000023.10:g.110957978C>T, NG_016238.1:g.38633C>T

Select item 149028037017.

rs1490280370 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:111736629 (GRCh38)
X:110979857 (GRCh37)
Canonical SPDI:: NC_000023.11:111736628:T:C
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.111736629T>C, NC_000023.10:g.110979857T>C, NG_016238.1:g.60512T>C

Select item 149027859318.

rs1490278593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:111709281 (GRCh38)
X:110952509 (GRCh37)
Canonical SPDI:: NC_000023.11:111709280:A:T
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.111709281A>T, NC_000023.10:g.110952509A>T, NG_016238.1:g.33164A>T

Select item 149023880819.

rs1490238808 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:111692969 (GRCh38)
X:110936197 (GRCh37)
Canonical SPDI:: NC_000023.11:111692968:C:T
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
T=0.000135/2 (TOMMO)
T=0.000687/2 (KOREAN)
HGVS:: NC_000023.11:g.111692969C>T, NC_000023.10:g.110936197C>T, NG_016238.1:g.16852C>T

Select item 149012142320.

rs1490121423 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:111702182 (GRCh38)
X:110945410 (GRCh37)
Canonical SPDI:: NC_000023.11:111702181:C:A
Gene:: ALG13 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.111702182C>A, NC_000023.10:g.110945410C>A, NG_016238.1:g.26065C>A

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