SNP Links for Nucleotide (Select 296785046) - SNP

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Select item 14915429931.

rs1491542993 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:19112988 (GRCh38)
X:19131106 (GRCh37)
Canonical SPDI:: NC_000023.11:19112987:CA:
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00034/4 (ALFA)
-=0.00061/47 (GnomAD)
HGVS:: NC_000023.11:g.19112988_19112989del, NC_000023.10:g.19131106_19131107del, NG_021304.1:g.14649_14650del

Select item 14915412312.

rs1491541231 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTGTAT,GTGTGTGTGTAT [Show Flanks]
Chromosome:: X:19055270 (GRCh38)
X:19073389 (GRCh37)
Canonical SPDI:: NC_000023.11:19055270:T:TGTAT,NC_000023.11:19055270:T:TGTGTAT,NC_000023.11:19055270:T:TGTGTGTGTGTAT
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTAT=0./0 (ALFA)
TGTA=0.000004/1 (TOPMED)
TGTA=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.19055271_19055272insGTAT, NC_000023.11:g.19055271TG[2]TAT[1], NC_000023.11:g.19055271TG[5]TAT[1], NC_000023.10:g.19073389_19073390insGTAT, NC_000023.10:g.19073389TG[2]TAT[1], NC_000023.10:g.19073389TG[5]TAT[1], NG_021304.1:g.72367_72368insTACA, NG_021304.1:g.72367_72368insTACACA, NG_021304.1:g.72367_72368insTACACACACACA, XR_001755805.2:n.4499_4500insGTAT, XR_001755805.2:n.4499TG[2]TAT[1], XR_001755805.2:n.4499TG[5]TAT[1], XR_001755808.2:n.4296_4297insGTAT, XR_001755808.2:n.4296TG[2]TAT[1], XR_001755808.2:n.4296TG[5]TAT[1], XR_007068405.1:n.6758_6759insGTAT, XR_007068405.1:n.6758TG[2]TAT[1], XR_007068405.1:n.6758TG[5]TAT[1]

Select item 14915352893.

rs1491535289 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTTTG [Show Flanks]
Chromosome:: X:19116692 (GRCh38)
X:19134811 (GRCh37)
Canonical SPDI:: NC_000023.11:19116692::CTTTG
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: CTTTG=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.19116692_19116693insCTTTG, NC_000023.10:g.19134810_19134811insCTTTG, NG_021304.1:g.10945_10946insCAAAG

Select item 14915262014.

rs1491526201 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: X:19124681 (GRCh38)
X:19142799 (GRCh37)
Canonical SPDI:: NC_000023.11:19124679:GTG:G
Gene:: ADGRG2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.19124681_19124682del, NC_000023.10:g.19142799_19142800del, NG_021304.1:g.2957_2958del

Select item 14914986355.

rs1491498635 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: X:19112987 (GRCh38)
X:19131105 (GRCh37)
Canonical SPDI:: NC_000023.11:19112986:CC:
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000023.11:g.19112987_19112988del, NC_000023.10:g.19131105_19131106del, NG_021304.1:g.14650_14651del

Select item 14914630586.

rs1491463058 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: X:19093900 (GRCh38)
X:19112019 (GRCh37)
Canonical SPDI:: NC_000023.11:19093900:A:ACA
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACA=0.00008/1 (ALFA)
AC=0.00005/4 (GnomAD)
HGVS:: NC_000023.11:g.19093901_19093902insCA, NC_000023.10:g.19112019_19112020insCA, NG_021304.1:g.33737_33738insGT

Select item 14913867987.

rs1491386798 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:19116693 (GRCh38)
X:19134811 (GRCh37)
Canonical SPDI:: NC_000023.11:19116691:AAA:A
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.19116693_19116694del, NC_000023.10:g.19134811_19134812del, NG_021304.1:g.10945_10946del

Select item 14913438418.

rs1491343841 has merged into rs759719047 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: X:19020963 (GRCh38)
X:19039081 (GRCh37)
Canonical SPDI:: NC_000023.11:19020954:AAAAAAAAAA:AAAAAAAA,NC_000023.11:19020954:AAAAAAAAAA:AAAAAAAAA,NC_000023.11:19020954:AAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:19020954:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.00735/21 (1000Genomes)
A=0.025/1 (GENOME_DK)
A=0.12298/456 (TWINSUK)
A=0.1253/362 (ALSPAC)
A=0.40068/5146 (TOMMO)
HGVS:: NC_000023.11:g.19020963_19020964del, NC_000023.11:g.19020964del, NC_000023.11:g.19020964dup, NC_000023.11:g.19020963_19020964dup, NC_000023.10:g.19039081_19039082del, NC_000023.10:g.19039082del, NC_000023.10:g.19039082dup, NC_000023.10:g.19039081_19039082dup, NG_021304.1:g.106682_106683del, NG_021304.1:g.106683del, NG_021304.1:g.106683dup, NG_021304.1:g.106682_106683dup

Select item 14913220709.

rs1491322070 has merged into rs1193228435 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: X:19093902 (GRCh38)
X:19112020 (GRCh37)
Canonical SPDI:: NC_000023.11:19093899:TATA:TA,NC_000023.11:19093899:TATA:TATATA
Gene:: ADGRG2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.19093900TA[1], NC_000023.11:g.19093900TA[3], NC_000023.10:g.19112018TA[1], NC_000023.10:g.19112018TA[3], NG_021304.1:g.33735TA[1], NG_021304.1:g.33735TA[3]

Select item 149127975010.

rs1491279750 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC,CCTTCTCCTTCTCCTTCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCC,CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC [Show Flanks]
Chromosome:: X:19074563 (GRCh38)
X:19092682 (GRCh37)
Canonical SPDI:: NC_000023.11:19074563::CC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCC,NC_000023.11:19074563::CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.19074563_19074564insCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCC, NC_000023.11:g.19074563_19074564insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC, NC_000023.10:g.19092681_19092682insCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCC, NC_000023.10:g.19092681_19092682insCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCC, NG_021304.1:g.53074_53075insGG, NG_021304.1:g.53074_53075insGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG, NG_021304.1:g.53074_53075insGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG

Select item 149120231411.

rs1491202314 has merged into rs1212446647 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:19074573 (GRCh38)
X:19092691 (GRCh37)
Canonical SPDI:: NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:19074562:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000521/138 (TOPMED)
HGVS:: NC_000023.11:g.19074573_19074579del, NC_000023.11:g.19074574_19074579del, NC_000023.11:g.19074575_19074579del, NC_000023.11:g.19074576_19074579del, NC_000023.11:g.19074577_19074579del, NC_000023.11:g.19074578_19074579del, NC_000023.11:g.19074579del, NC_000023.11:g.19074579dup, NC_000023.11:g.19074578_19074579dup, NC_000023.11:g.19074577_19074579dup, NC_000023.11:g.19074576_19074579dup, NC_000023.11:g.19074575_19074579dup, NC_000023.11:g.19074572_19074579dup, NC_000023.11:g.19074571_19074579dup, NC_000023.10:g.19092691_19092697del, NC_000023.10:g.19092692_19092697del, NC_000023.10:g.19092693_19092697del, NC_000023.10:g.19092694_19092697del, NC_000023.10:g.19092695_19092697del, NC_000023.10:g.19092696_19092697del, NC_000023.10:g.19092697del, NC_000023.10:g.19092697dup, NC_000023.10:g.19092696_19092697dup, NC_000023.10:g.19092695_19092697dup, NC_000023.10:g.19092694_19092697dup, NC_000023.10:g.19092693_19092697dup, NC_000023.10:g.19092690_19092697dup, NC_000023.10:g.19092689_19092697dup, NG_021304.1:g.53069_53075del, NG_021304.1:g.53070_53075del, NG_021304.1:g.53071_53075del, NG_021304.1:g.53072_53075del, NG_021304.1:g.53073_53075del, NG_021304.1:g.53074_53075del, NG_021304.1:g.53075del, NG_021304.1:g.53075dup, NG_021304.1:g.53074_53075dup, NG_021304.1:g.53073_53075dup, NG_021304.1:g.53072_53075dup, NG_021304.1:g.53071_53075dup, NG_021304.1:g.53068_53075dup, NG_021304.1:g.53067_53075dup

Select item 149116726512.

rs1491167265 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTGTG [Show Flanks]
Chromosome:: X:19101102 (GRCh38)
X:19119221 (GRCh37)
Canonical SPDI:: NC_000023.11:19101102:GTGTG:GTGTGCGTGTG
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGTGCGTGTG=0./0 (ALFA)
GTGTGC=0.00003/1 (GnomAD)
HGVS:: NC_000023.11:g.19101103_19101107GT[2]GCGTGTG[1], NC_000023.10:g.19119221_19119225GT[2]GCGTGTG[1], NG_021304.1:g.26531_26535CA[2]CGCACAC[1]

Select item 149109002913.

rs1491090029 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: X:19112987 (GRCh38)
X:19131106 (GRCh37)
Canonical SPDI:: NC_000023.11:19112987::A,NC_000023.11:19112987::AA
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19112987_19112988insA, NC_000023.11:g.19112987_19112988insAA, NC_000023.10:g.19131105_19131106insA, NC_000023.10:g.19131105_19131106insAA, NG_021304.1:g.14650_14651insT, NG_021304.1:g.14650_14651insTT

Select item 149106432514.

rs1491064325 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CGTG [Show Flanks]
Chromosome:: X:19101104 (GRCh38)
X:19119223 (GRCh37)
Canonical SPDI:: NC_000023.11:19101104:GTG:GTGCGTG
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTGCGTG=0.00008/1 (ALFA)
GTGC=0.00038/18 (GnomAD)
HGVS:: NC_000023.11:g.19101107_19101108insCGTG, NC_000023.10:g.19119225_19119226insCGTG, NG_021304.1:g.26533_26534insGCAC

Select item 149105089315.

rs1491050893 has merged into rs534574581 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: X:19036634 (GRCh38)
X:19054752 (GRCh37)
Canonical SPDI:: NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000023.11:19036616:ACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000023.11:g.19036618CA[8], NC_000023.11:g.19036618CA[9], NC_000023.11:g.19036618CA[10], NC_000023.11:g.19036618CA[11], NC_000023.11:g.19036618CA[12], NC_000023.11:g.19036618CA[13], NC_000023.11:g.19036618CA[14], NC_000023.11:g.19036618CA[15], NC_000023.11:g.19036618CA[16], NC_000023.11:g.19036618CA[17], NC_000023.11:g.19036618CA[19], NC_000023.11:g.19036618CA[20], NC_000023.11:g.19036618CA[21], NC_000023.11:g.19036618CA[22], NC_000023.11:g.19036618CA[23], NC_000023.11:g.19036618CA[24], NC_000023.11:g.19036618CA[25], NC_000023.11:g.19036618CA[26], NC_000023.11:g.19036618CA[27], NC_000023.11:g.19036618CA[29], NC_000023.10:g.19054736CA[8], NC_000023.10:g.19054736CA[9], NC_000023.10:g.19054736CA[10], NC_000023.10:g.19054736CA[11], NC_000023.10:g.19054736CA[12], NC_000023.10:g.19054736CA[13], NC_000023.10:g.19054736CA[14], NC_000023.10:g.19054736CA[15], NC_000023.10:g.19054736CA[16], NC_000023.10:g.19054736CA[17], NC_000023.10:g.19054736CA[19], NC_000023.10:g.19054736CA[20], NC_000023.10:g.19054736CA[21], NC_000023.10:g.19054736CA[22], NC_000023.10:g.19054736CA[23], NC_000023.10:g.19054736CA[24], NC_000023.10:g.19054736CA[25], NC_000023.10:g.19054736CA[26], NC_000023.10:g.19054736CA[27], NC_000023.10:g.19054736CA[29], NG_021304.1:g.90986GT[8], NG_021304.1:g.90986GT[9], NG_021304.1:g.90986GT[10], NG_021304.1:g.90986GT[11], NG_021304.1:g.90986GT[12], NG_021304.1:g.90986GT[13], NG_021304.1:g.90986GT[14], NG_021304.1:g.90986GT[15], NG_021304.1:g.90986GT[16], NG_021304.1:g.90986GT[17], NG_021304.1:g.90986GT[19], NG_021304.1:g.90986GT[20], NG_021304.1:g.90986GT[21], NG_021304.1:g.90986GT[22], NG_021304.1:g.90986GT[23], NG_021304.1:g.90986GT[24], NG_021304.1:g.90986GT[25], NG_021304.1:g.90986GT[26], NG_021304.1:g.90986GT[27], NG_021304.1:g.90986GT[29]

Select item 149101794716.

rs1491017947 has merged into rs112588928 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA [Show Flanks]
Chromosome:: X:19022276 (GRCh38)
X:19040394 (GRCh37)
Canonical SPDI:: NC_000023.11:19022264:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:19022264:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:19022264:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:19022264:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:19022264:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1315/380 (ALSPAC)
A=0.25/10 (GENOME_DK)
A=0.4781/1805 (1000Genomes)
HGVS:: NC_000023.11:g.19022276_19022279del, NC_000023.11:g.19022277_19022279del, NC_000023.11:g.19022278_19022279del, NC_000023.11:g.19022279del, NC_000023.11:g.19022279dup, NC_000023.10:g.19040394_19040397del, NC_000023.10:g.19040395_19040397del, NC_000023.10:g.19040396_19040397del, NC_000023.10:g.19040397del, NC_000023.10:g.19040397dup, NG_021304.1:g.105370_105373del, NG_021304.1:g.105371_105373del, NG_021304.1:g.105372_105373del, NG_021304.1:g.105373del, NG_021304.1:g.105373dup

Select item 149098558017.

rs1490985580 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:19084769 (GRCh38)
X:19102887 (GRCh37)
Canonical SPDI:: NC_000023.11:19084768:C:G,NC_000023.11:19084768:C:T
Gene:: ADGRG2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.19084769C>G, NC_000023.11:g.19084769C>T, NC_000023.10:g.19102887C>G, NC_000023.10:g.19102887C>T, NG_021304.1:g.42869G>C, NG_021304.1:g.42869G>A

Select item 149094744018.

rs1490947440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:19032444 (GRCh38)
X:19050562 (GRCh37)
Canonical SPDI:: NC_000023.11:19032443:C:T
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.19032444C>T, NC_000023.10:g.19050562C>T, NG_021304.1:g.95194G>A

Select item 149093066319.

rs1490930663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:19028542 (GRCh38)
X:19046660 (GRCh37)
Canonical SPDI:: NC_000023.11:19028541:C:A
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19028542C>A, NC_000023.10:g.19046660C>A, NG_021304.1:g.99096G>T

Select item 149092474120.

rs1490924741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:19040438 (GRCh38)
X:19058556 (GRCh37)
Canonical SPDI:: NC_000023.11:19040437:A:T
Gene:: ADGRG2 (Varview), LOC101928415 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.19040438A>T, NC_000023.10:g.19058556A>T, NG_021304.1:g.87200T>A

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