SNP Links for Gene (Select 55916) - SNP

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Select item 14914789661.

rs1491478966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: X:109538878 (GRCh38)
X:108782108 (GRCh37)
Canonical SPDI:: NC_000023.11:109538878:A:ACA
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.000142/2 (ALFA)
AC=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109538879_109538880insCA, NC_000023.10:g.108782108_108782109insCA, NG_029691.1:g.8099_8100insCA

Select item 14913085322.

rs1491308532 has merged into rs1395585722 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: X:109538890 (GRCh38)
X:108782119 (GRCh37)
Canonical SPDI:: NC_000023.11:109538877:TATATATATATATA:TATATATATATA,NC_000023.11:109538877:TATATATATATATA:TATATATATATATATA
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0.00007/1 (ALFA)
HGVS:: NC_000023.11:g.109538878TA[6], NC_000023.11:g.109538878TA[8], NC_000023.10:g.108782107TA[6], NC_000023.10:g.108782107TA[8], NG_029691.1:g.8098TA[6], NG_029691.1:g.8098TA[8]

Select item 14906642833.

rs1490664283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:109536712 (GRCh38)
X:108779941 (GRCh37)
Canonical SPDI:: NC_000023.11:109536711:G:C
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109536712G>C, NC_000023.10:g.108779941G>C, NG_029691.1:g.5932G>C

Select item 14905726714.

rs1490572671 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:109535490 (GRCh38)
X:108778719 (GRCh37)
Canonical SPDI:: NC_000023.11:109535489:A:C
Gene:: NXT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.109535490A>C, NC_000023.10:g.108778719A>C, NG_029691.1:g.4710A>C

Select item 14902447325.

rs1490244732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:109534387 (GRCh38)
X:108777616 (GRCh37)
Canonical SPDI:: NC_000023.11:109534386:G:T
Gene:: NXT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.109534387G>T, NC_000023.10:g.108777616G>T, NG_029691.1:g.3607G>T

Select item 14895775066.

rs1489577506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:109537565 (GRCh38)
X:108780794 (GRCh37)
Canonical SPDI:: NC_000023.11:109537564:T:C
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.109537565T>C, NC_000023.10:g.108780794T>C, NG_029691.1:g.6785T>C, XM_017029648.3:c.-209T>C

Select item 14895677667.

rs1489567766 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:109539457 (GRCh38)
X:108782686 (GRCh37)
Canonical SPDI:: NC_000023.11:109539456:C:G
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
G=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.109539457C>G, NC_000023.10:g.108782686C>G, NG_029691.1:g.8677C>G

Select item 14894077598.

rs1489407759 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:109537275 (GRCh38)
X:108780504 (GRCh37)
Canonical SPDI:: NC_000023.11:109537274:G:A,NC_000023.11:109537274:G:C
Gene:: NXT2 (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=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.109537275G>A, NC_000023.11:g.109537275G>C, NC_000023.10:g.108780504G>A, NC_000023.10:g.108780504G>C, NG_029691.1:g.6495G>A, NG_029691.1:g.6495G>C, XM_011530989.3:c.-127G>A, XM_011530989.3:c.-127G>C, XM_011530989.2:c.-127G>A, XM_011530989.2:c.-127G>C

Select item 14880932709.

rs1488093270 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: X:109538071 (GRCh38)
X:108781300 (GRCh37)
Canonical SPDI:: NC_000023.11:109538070:A:C,NC_000023.11:109538070:A:T
Gene:: NXT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109538071A>C, NC_000023.11:g.109538071A>T, NC_000023.10:g.108781300A>C, NC_000023.10:g.108781300A>T, NG_029691.1:g.7291A>C, NG_029691.1:g.7291A>T, NM_018698.5:c.207A>C, NM_018698.5:c.207A>T, NM_018698.4:c.207A>C, NM_018698.4:c.207A>T, NM_001242617.2:c.42A>C, NM_001242617.2:c.42A>T, NM_001242617.1:c.42A>C, NM_001242617.1:c.42A>T, NM_001242618.2:c.-43A>C, NM_001242618.2:c.-43A>T, NM_001242618.1:c.-43A>C, NM_001242618.1:c.-43A>T, XM_017029648.3:c.-43A>C, XM_017029648.3:c.-43A>T, XM_017029648.2:c.-43A>C, XM_017029648.2:c.-43A>T, XM_017029648.1:c.-43A>C, XM_017029648.1:c.-43A>T, XM_011530989.3:c.39A>C, XM_011530989.3:c.39A>T, XM_011530989.2:c.39A>C, XM_011530989.2:c.39A>T, XM_011530989.1:c.39A>C, XM_011530989.1:c.39A>T

Select item 148774719510.

rs1487747195 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:109538983 (GRCh38)
X:108782212 (GRCh37)
Canonical SPDI:: NC_000023.11:109538982:A:G
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.109538983A>G, NC_000023.10:g.108782212A>G, NG_029691.1:g.8203A>G

Select item 148727981611.

rs1487279816 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:109537531 (GRCh38)
X:108780760 (GRCh37)
Canonical SPDI:: NC_000023.11:109537530:C:T
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000205/21 (GnomAD)
T=0.000215/57 (TOPMED)
HGVS:: NC_000023.11:g.109537531C>T, NC_000023.10:g.108780760C>T, NG_029691.1:g.6751C>T, XM_017029648.3:c.-243C>T

Select item 148726012012.

rs1487260120 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTA>- [Show Flanks]
Chromosome:: X:109538504 (GRCh38)
X:108781733 (GRCh37)
Canonical SPDI:: NC_000023.11:109538498:TATTATTA:TATTA
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.109538501TTA[1], NC_000023.10:g.108781730TTA[1], NG_029691.1:g.7721TTA[1]

Select item 148722940313.

rs1487229403 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:109541406 (GRCh38)
X:108784635 (GRCh37)
Canonical SPDI:: NC_000023.11:109541405:T:C
Gene:: NXT2 (Varview)
Functional Consequence:: intron_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.109541406T>C, NC_000023.10:g.108784635T>C, NG_029691.1:g.10626T>C

Select item 148663095414.

rs1486630954 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: X:109534644 (GRCh38)
X:108777873 (GRCh37)
Canonical SPDI:: NC_000023.11:109534643:G:
Gene:: NXT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000106/11 (GnomAD)
HGVS:: NC_000023.11:g.109534644del, NC_000023.10:g.108777873del, NG_029691.1:g.3864del

Select item 148658931315.

rs1486589313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:109539739 (GRCh38)
X:108782968 (GRCh37)
Canonical SPDI:: NC_000023.11:109539738:G:C
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.00063/8 (TOMMO)
C=0.000684/2 (KOREAN)
HGVS:: NC_000023.11:g.109539739G>C, NC_000023.10:g.108782968G>C, NG_029691.1:g.8959G>C

Select item 148631849816.

rs1486318498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:109534211 (GRCh38)
X:108777440 (GRCh37)
Canonical SPDI:: NC_000023.11:109534210:A:G
Gene:: NXT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,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.109534211A>G, NC_000023.10:g.108777440A>G, NG_029691.1:g.3431A>G

Select item 148527170317.

rs1485271703 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:109539732 (GRCh38)
X:108782961 (GRCh37)
Canonical SPDI:: NC_000023.11:109539731:T:C
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.109539732T>C, NC_000023.10:g.108782961T>C, NG_029691.1:g.8952T>C

Select item 148495610218.

rs1484956102 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:109539908 (GRCh38)
X:108783137 (GRCh37)
Canonical SPDI:: NC_000023.11:109539907:G:A
Gene:: NXT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.109539908G>A, NC_000023.10:g.108783137G>A, NG_029691.1:g.9128G>A