SNP Links for Nucleotide (Select 297206771) - SNP

Links from Nucleotide

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Select item 14915756911.

rs1491575691 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: X:103212999 (GRCh38)
X:102467928 (GRCh37)
Canonical SPDI:: NC_000023.11:103212999:T:TTT
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.103213000_103213001insTT, NC_000023.10:g.102467928_102467929insTT, NG_021339.1:g.2909_2910insTT

Select item 14908302102.

rs1490830210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103213845 (GRCh38)
X:102468773 (GRCh37)
Canonical SPDI:: NC_000023.11:103213844:C:T
Gene:: BEX4 (Varview)
Functional Consequence:: 2KB_upstream_variant,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)
HGVS:: NC_000023.11:g.103213845C>T, NC_000023.10:g.102468773C>T, NG_021339.1:g.3754C>T

Select item 14907922713.

rs1490792271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:103212457 (GRCh38)
X:102467385 (GRCh37)
Canonical SPDI:: NC_000023.11:103212456:G:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103212457G>C, NC_000023.10:g.102467385G>C, NG_021339.1:g.2366G>C

Select item 14906658664.

rs1490665866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103213204 (GRCh38)
X:102468132 (GRCh37)
Canonical SPDI:: NC_000023.11:103213203:A:G
Gene:: BEX4 (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.103213204A>G, NC_000023.10:g.102468132A>G, NG_021339.1:g.3113A>G

Select item 14906307735.

rs1490630773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:103211982 (GRCh38)
X:102466910 (GRCh37)
Canonical SPDI:: NC_000023.11:103211981:C:G
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.103211982C>G, NC_000023.10:g.102466910C>G, NG_021339.1:g.1891C>G

Select item 14897190726.

rs1489719072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103211527 (GRCh38)
X:102466455 (GRCh37)
Canonical SPDI:: NC_000023.11:103211526:T:C
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103211527T>C, NC_000023.10:g.102466455T>C, NG_021339.1:g.1436T>C

Select item 14893855327.

rs1489385532 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:103210850 (GRCh38)
X:102465778 (GRCh37)
Canonical SPDI:: NC_000023.11:103210849:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.103210850T>G, NC_000023.10:g.102465778T>G, NG_021339.1:g.759T>G

Select item 14889327748.

rs1488932774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:103215404 (GRCh38)
X:102470332 (GRCh37)
Canonical SPDI:: NC_000023.11:103215403:C:T
Gene:: BEX4 (Varview)
Functional Consequence:: intron_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.103215404C>T, NC_000023.10:g.102470332C>T, NG_021339.1:g.5313C>T

Select item 14888812749.

rs1488881274 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:103218878 (GRCh38)
X:102473806 (GRCh37)
Canonical SPDI:: NC_000023.11:103218877:G:A,NC_000023.11:103218877:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.103218878G>A, NC_000023.11:g.103218878G>C, NC_000023.10:g.102473806G>A, NC_000023.10:g.102473806G>C, NG_021339.1:g.8787G>A, NG_021339.1:g.8787G>C

Select item 148850870410.

rs1488508704 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103215531 (GRCh38)
X:102470459 (GRCh37)
Canonical SPDI:: NC_000023.11:103215530:G:A
Gene:: BEX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.103215531G>A, NC_000023.10:g.102470459G>A, NG_021339.1:g.5440G>A

Select item 148801235211.

rs1488012352 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:103218241 (GRCh38)
X:102473169 (GRCh37)
Canonical SPDI:: NC_000023.11:103218240:A:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.103218241A>C, NC_000023.10:g.102473169A>C, NG_021339.1:g.8150A>C

Select item 148742745912.

rs1487427459 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103214028 (GRCh38)
X:102468956 (GRCh37)
Canonical SPDI:: NC_000023.11:103214027:A:T
Gene:: BEX4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103214028A>T, NC_000023.10:g.102468956A>T, NG_021339.1:g.3937A>T

Select item 148712824713.

rs1487128247 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103212575 (GRCh38)
X:102467503 (GRCh37)
Canonical SPDI:: NC_000023.11:103212574:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103212575A>G, NC_000023.10:g.102467503A>G, NG_021339.1:g.2484A>G

Select item 148671176614.

rs1486711766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:103210223 (GRCh38)
X:102465151 (GRCh37)
Canonical SPDI:: NC_000023.11:103210222:G:T
HGVS:: NC_000023.11:g.103210223G>T, NC_000023.10:g.102465151G>T, NG_021339.1:g.132G>T

Select item 148639902115.

rs1486399021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:103216140 (GRCh38)
X:102471068 (GRCh37)
Canonical SPDI:: NC_000023.11:103216139:G:C
Gene:: BEX4 (Varview)
Functional Consequence:: 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.103216140G>C, NC_000023.10:g.102471068G>C, NG_021339.1:g.6049G>C

Select item 148638830416.

rs1486388304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103217607 (GRCh38)
X:102472535 (GRCh37)
Canonical SPDI:: NC_000023.11:103217606:G:A
Gene:: BEX4 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_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.103217607G>A, NC_000023.10:g.102472535G>A, NG_021339.1:g.7516G>A

Select item 148603420917.

rs1486034209 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103218430 (GRCh38)
X:102473358 (GRCh37)
Canonical SPDI:: NC_000023.11:103218429:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103218430A>G, NC_000023.10:g.102473358A>G, NG_021339.1:g.8339A>G

Select item 148546619918.

rs1485466199 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: X:103212862 (GRCh38)
X:102467790 (GRCh37)
Canonical SPDI:: NC_000023.11:103212861:GG:G
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103212863del, NC_000023.10:g.102467791del, NG_021339.1:g.2772del

Select item 148527817019.

rs1485278170 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAATA>- [Show Flanks]
Chromosome:: X:103217179 (GRCh38)
X:102472107 (GRCh37)
Canonical SPDI:: NC_000023.11:103217169:TAAACAATAAACAATA:TAAACAATA
Gene:: BEX4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TAAACAATA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.103217172AACAATA[1], NC_000023.10:g.102472100AACAATA[1], NG_021339.1:g.7081AACAATA[1], NM_001080425.4:c.*656AACAATA[1], NM_001080425.3:c.*656AACAATA[1], NM_001127688.2:c.*656AACAATA[1]

Select item 148488026220.

rs1484880262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103215389 (GRCh38)
X:102470317 (GRCh37)
Canonical SPDI:: NC_000023.11:103215388:G:A
Gene:: BEX4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000053/14 (TOPMED)
HGVS:: NC_000023.11:g.103215389G>A, NC_000023.10:g.102470317G>A, NG_021339.1:g.5298G>A

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