SNP Links for Nucleotide (Select 281604203) - SNP

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Select item 14915188031.

rs1491518803 has merged into rs35305988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:103314279 (GRCh38)
X:102569207 (GRCh37)
Canonical SPDI:: NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.332641/961 (ALSPAC)
-=0.355987/1320 (TWINSUK)
AAA=0.485828/1834 (1000Genomes)
HGVS:: NC_000023.11:g.103314279_103314289del, NC_000023.11:g.103314283_103314289del, NC_000023.11:g.103314285_103314289del, NC_000023.11:g.103314286_103314289del, NC_000023.11:g.103314287_103314289del, NC_000023.11:g.103314288_103314289del, NC_000023.11:g.103314289del, NC_000023.11:g.103314289dup, NC_000023.11:g.103314288_103314289dup, NC_000023.11:g.103314287_103314289dup, NC_000023.11:g.103314286_103314289dup, NC_000023.11:g.103314285_103314289dup, NC_000023.11:g.103314284_103314289dup, NC_000023.11:g.103314283_103314289dup, NC_000023.11:g.103314282_103314289dup, NC_000023.11:g.103314281_103314289dup, NC_000023.11:g.103314280_103314289dup, NC_000023.11:g.103314279_103314289dup, NC_000023.11:g.103314278_103314289dup, NC_000023.11:g.103314277_103314289dup, NC_000023.11:g.103314276_103314289dup, NC_000023.11:g.103314275_103314289dup, NC_000023.11:g.103314274_103314289dup, NC_000023.11:g.103314273_103314289dup, NC_000023.11:g.103314272_103314289dup, NC_000023.11:g.103314271_103314289dup, NC_000023.11:g.103314270_103314289dup, NC_000023.11:g.103314269_103314289dup, NC_000023.11:g.103314266_103314289A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.103314266_103314289A[27]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.103314266_103314289A[26]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569207_102569217del, NC_000023.10:g.102569211_102569217del, NC_000023.10:g.102569213_102569217del, NC_000023.10:g.102569214_102569217del, NC_000023.10:g.102569215_102569217del, NC_000023.10:g.102569216_102569217del, NC_000023.10:g.102569217del, NC_000023.10:g.102569217dup, NC_000023.10:g.102569216_102569217dup, NC_000023.10:g.102569215_102569217dup, NC_000023.10:g.102569214_102569217dup, NC_000023.10:g.102569213_102569217dup, NC_000023.10:g.102569212_102569217dup, NC_000023.10:g.102569211_102569217dup, NC_000023.10:g.102569210_102569217dup, NC_000023.10:g.102569209_102569217dup, NC_000023.10:g.102569208_102569217dup, NC_000023.10:g.102569207_102569217dup, NC_000023.10:g.102569206_102569217dup, NC_000023.10:g.102569205_102569217dup, NC_000023.10:g.102569204_102569217dup, NC_000023.10:g.102569203_102569217dup, NC_000023.10:g.102569202_102569217dup, NC_000023.10:g.102569201_102569217dup, NC_000023.10:g.102569200_102569217dup, NC_000023.10:g.102569199_102569217dup, NC_000023.10:g.102569198_102569217dup, NC_000023.10:g.102569197_102569217dup, NC_000023.10:g.102569194_102569217A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569194_102569217A[27]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569194_102569217A[26]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016254.1:g.1771_1781del, NG_016254.1:g.1775_1781del, NG_016254.1:g.1777_1781del, NG_016254.1:g.1778_1781del, NG_016254.1:g.1779_1781del, NG_016254.1:g.1780_1781del, NG_016254.1:g.1781del, NG_016254.1:g.1781dup, NG_016254.1:g.1780_1781dup, NG_016254.1:g.1779_1781dup, NG_016254.1:g.1778_1781dup, NG_016254.1:g.1777_1781dup, NG_016254.1:g.1776_1781dup, NG_016254.1:g.1775_1781dup, NG_016254.1:g.1774_1781dup, NG_016254.1:g.1773_1781dup, NG_016254.1:g.1772_1781dup, NG_016254.1:g.1771_1781dup, NG_016254.1:g.1770_1781dup, NG_016254.1:g.1769_1781dup, NG_016254.1:g.1768_1781dup, NG_016254.1:g.1767_1781dup, NG_016254.1:g.1766_1781dup, NG_016254.1:g.1765_1781dup, NG_016254.1:g.1764_1781dup, NG_016254.1:g.1763_1781dup, NG_016254.1:g.1762_1781dup, NG_016254.1:g.1761_1781dup, NG_016254.1:g.1758_1781T[38]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016254.1:g.1758_1781T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016254.1:g.1758_1781T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14912453202.

rs1491245320 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:103314266 (GRCh38)
X:102569195 (GRCh37)
Canonical SPDI:: NC_000023.11:103314266:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA
HGVS:: NC_000023.11:g.103314267_103314289A[24]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569195_102569217A[24]CAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016254.1:g.1758_1780T[23]GTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14911062723.

rs1491106272 has merged into rs35305988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:103314279 (GRCh38)
X:102569207 (GRCh37)
Canonical SPDI:: NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:103314265:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.332641/961 (ALSPAC)
-=0.355987/1320 (TWINSUK)
AAA=0.485828/1834 (1000Genomes)
HGVS:: NC_000023.11:g.103314279_103314289del, NC_000023.11:g.103314283_103314289del, NC_000023.11:g.103314285_103314289del, NC_000023.11:g.103314286_103314289del, NC_000023.11:g.103314287_103314289del, NC_000023.11:g.103314288_103314289del, NC_000023.11:g.103314289del, NC_000023.11:g.103314289dup, NC_000023.11:g.103314288_103314289dup, NC_000023.11:g.103314287_103314289dup, NC_000023.11:g.103314286_103314289dup, NC_000023.11:g.103314285_103314289dup, NC_000023.11:g.103314284_103314289dup, NC_000023.11:g.103314283_103314289dup, NC_000023.11:g.103314282_103314289dup, NC_000023.11:g.103314281_103314289dup, NC_000023.11:g.103314280_103314289dup, NC_000023.11:g.103314279_103314289dup, NC_000023.11:g.103314278_103314289dup, NC_000023.11:g.103314277_103314289dup, NC_000023.11:g.103314276_103314289dup, NC_000023.11:g.103314275_103314289dup, NC_000023.11:g.103314274_103314289dup, NC_000023.11:g.103314273_103314289dup, NC_000023.11:g.103314272_103314289dup, NC_000023.11:g.103314271_103314289dup, NC_000023.11:g.103314270_103314289dup, NC_000023.11:g.103314269_103314289dup, NC_000023.11:g.103314266_103314289A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.103314266_103314289A[27]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.11:g.103314266_103314289A[26]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569207_102569217del, NC_000023.10:g.102569211_102569217del, NC_000023.10:g.102569213_102569217del, NC_000023.10:g.102569214_102569217del, NC_000023.10:g.102569215_102569217del, NC_000023.10:g.102569216_102569217del, NC_000023.10:g.102569217del, NC_000023.10:g.102569217dup, NC_000023.10:g.102569216_102569217dup, NC_000023.10:g.102569215_102569217dup, NC_000023.10:g.102569214_102569217dup, NC_000023.10:g.102569213_102569217dup, NC_000023.10:g.102569212_102569217dup, NC_000023.10:g.102569211_102569217dup, NC_000023.10:g.102569210_102569217dup, NC_000023.10:g.102569209_102569217dup, NC_000023.10:g.102569208_102569217dup, NC_000023.10:g.102569207_102569217dup, NC_000023.10:g.102569206_102569217dup, NC_000023.10:g.102569205_102569217dup, NC_000023.10:g.102569204_102569217dup, NC_000023.10:g.102569203_102569217dup, NC_000023.10:g.102569202_102569217dup, NC_000023.10:g.102569201_102569217dup, NC_000023.10:g.102569200_102569217dup, NC_000023.10:g.102569199_102569217dup, NC_000023.10:g.102569198_102569217dup, NC_000023.10:g.102569197_102569217dup, NC_000023.10:g.102569194_102569217A[28]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569194_102569217A[27]CAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.102569194_102569217A[26]CAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_016254.1:g.1771_1781del, NG_016254.1:g.1775_1781del, NG_016254.1:g.1777_1781del, NG_016254.1:g.1778_1781del, NG_016254.1:g.1779_1781del, NG_016254.1:g.1780_1781del, NG_016254.1:g.1781del, NG_016254.1:g.1781dup, NG_016254.1:g.1780_1781dup, NG_016254.1:g.1779_1781dup, NG_016254.1:g.1778_1781dup, NG_016254.1:g.1777_1781dup, NG_016254.1:g.1776_1781dup, NG_016254.1:g.1775_1781dup, NG_016254.1:g.1774_1781dup, NG_016254.1:g.1773_1781dup, NG_016254.1:g.1772_1781dup, NG_016254.1:g.1771_1781dup, NG_016254.1:g.1770_1781dup, NG_016254.1:g.1769_1781dup, NG_016254.1:g.1768_1781dup, NG_016254.1:g.1767_1781dup, NG_016254.1:g.1766_1781dup, NG_016254.1:g.1765_1781dup, NG_016254.1:g.1764_1781dup, NG_016254.1:g.1763_1781dup, NG_016254.1:g.1762_1781dup, NG_016254.1:g.1761_1781dup, NG_016254.1:g.1758_1781T[38]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016254.1:g.1758_1781T[25]GTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_016254.1:g.1758_1781T[24]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14908222214.

rs1490822221 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTATATATATATATAT>- [Show Flanks]
Chromosome:: X:103309252 (GRCh38)
X:102564180 (GRCh37)
Canonical SPDI:: NC_000023.11:103309250:TGTATATATATATATAT:T
Gene:: BEX2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00059/7 (ALFA)
-=0.00276/142 (GnomAD)
HGVS:: NC_000023.11:g.103309252_103309267del, NC_000023.10:g.102564180_102564195del, NG_016254.1:g.6781_6796del

Select item 14898397705.

rs1489839770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103308044 (GRCh38)
X:102562972 (GRCh37)
Canonical SPDI:: NC_000023.11:103308043:A:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.103308044A>G, NC_000023.10:g.102562972A>G, NG_016254.1:g.8003T>C

Select item 14883853236.

rs1488385323 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:103315913 (GRCh38)
X:102570841 (GRCh37)
Canonical SPDI:: NC_000023.11:103315912:A: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.103315913A>G, NC_000023.10:g.102570841A>G, NG_016254.1:g.134T>C

Select item 14877067687.

rs1487706768 [Homo sapiens]

Variant type:: DEL
Alleles:: ATATA>- [Show Flanks]
Chromosome:: X:103309264 (GRCh38)
X:102564192 (GRCh37)
Canonical SPDI:: NC_000023.11:103309263:ATATA:
Gene:: BEX2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00003/2 (GnomAD)
-=0.00014/2 (TOMMO)
HGVS:: NC_000023.11:g.103309264_103309268del, NC_000023.10:g.102564192_102564196del, NG_016254.1:g.6779_6783del

Select item 14871834418.

rs1487183441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103313797 (GRCh38)
X:102568725 (GRCh37)
Canonical SPDI:: NC_000023.11:103313796:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103313797T>C, NC_000023.10:g.102568725T>C, NG_016254.1:g.2250A>G

Select item 14870474179.

rs1487047417 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:103310560 (GRCh38)
X:102565488 (GRCh37)
Canonical SPDI:: NC_000023.11:103310559:G:A,NC_000023.11:103310559:G:T
Gene:: BEX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.103310560G>A, NC_000023.11:g.103310560G>T, NC_000023.10:g.102565488G>A, NC_000023.10:g.102565488G>T, NG_016254.1:g.5487C>T, NG_016254.1:g.5487C>A

Select item 148704232410.

rs1487042324 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103308914 (GRCh38)
X:102563842 (GRCh37)
Canonical SPDI:: NC_000023.11:103308913:A:T
Gene:: BEX2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.103308914A>T, NC_000023.10:g.102563842A>T, NG_016254.1:g.7133T>A

Select item 148685736211.

rs1486857362 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:103313517 (GRCh38)
X:102568445 (GRCh37)
Canonical SPDI:: NC_000023.11:103313516:T:A
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.103313517T>A, NC_000023.10:g.102568445T>A, NG_016254.1:g.2530A>T

Select item 148642729512.

rs1486427295 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103314560 (GRCh38)
X:102569488 (GRCh37)
Canonical SPDI:: NC_000023.11:103314559:A:T
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.103314560A>T, NC_000023.10:g.102569488A>T, NG_016254.1:g.1487T>A

Select item 148619939713.

rs1486199397 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103315677 (GRCh38)
X:102570605 (GRCh37)
Canonical SPDI:: NC_000023.11:103315676:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000038/4 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.103315677T>C, NC_000023.10:g.102570605T>C, NG_016254.1:g.370A>G

Select item 148609565414.

rs1486095654 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:103312279 (GRCh38)
X:102567207 (GRCh37)
Canonical SPDI:: NC_000023.11:103312278:A:T
Gene:: BEX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.103312279A>T, NC_000023.10:g.102567207A>T, NG_016254.1:g.3768T>A

Select item 148508303515.

rs1485083035 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103313769 (GRCh38)
X:102568697 (GRCh37)
Canonical SPDI:: NC_000023.11:103313768:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000023/6 (TOPMED)
A=0.000045/1 (TOMMO)
A=0.000416/2 (1000Genomes)
A=0.001371/4 (KOREAN)
HGVS:: NC_000023.11:g.103313769G>A, NC_000023.10:g.102568697G>A, NG_016254.1:g.2278C>T

Select item 148488009916.

rs1484880099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103312509 (GRCh38)
X:102567437 (GRCh37)
Canonical SPDI:: NC_000023.11:103312508:G:A
Gene:: BEX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.103312509G>A, NC_000023.10:g.102567437G>A, NG_016254.1:g.3538C>T

Select item 148361201017.

rs1483612010 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:103315362 (GRCh38)
X:102570290 (GRCh37)
Canonical SPDI:: NC_000023.11:103315361:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.103315362T>C, NC_000023.10:g.102570290T>C, NG_016254.1:g.685A>G

Select item 148337487518.

rs1483374875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103310177 (GRCh38)
X:102565105 (GRCh37)
Canonical SPDI:: NC_000023.11:103310176:G:A
Gene:: BEX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000019/5 (TOPMED)
A=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.103310177G>A, NC_000023.10:g.102565105G>A, NG_016254.1:g.5870C>T

Select item 148291572119.

rs1482915721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:103311105 (GRCh38)
X:102566033 (GRCh37)
Canonical SPDI:: NC_000023.11:103311104:C:A
Gene:: BEX2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.103311105C>A, NC_000023.10:g.102566033C>A, NG_016254.1:g.4942G>T

Select item 148289730120.

rs1482897301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:103310737 (GRCh38)
X:102565665 (GRCh37)
Canonical SPDI:: NC_000023.11:103310736:G:A
Gene:: BEX2 (Varview)
Functional Consequence:: intron_variant,5_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.103310737G>A, NC_000023.10:g.102565665G>A, NG_016254.1:g.5310C>T, NM_001168399.2:c.-140C>T, NM_001168399.1:c.-140C>T, NM_001168400.2:c.-140C>T, NM_001168400.1:c.-140C>T

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