SNP Links for Nucleotide (Select 383087726) - SNP

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Select item 14915582001.

rs1491558200 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: X:46748370 (GRCh38)
X:46607805 (GRCh37)
Canonical SPDI:: NC_000023.11:46748369:AG:
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.46748370_46748371del, NC_000023.10:g.46607805_46607806del, NG_012622.2:g.15667_15668del

Select item 14915488562.

rs1491548856 has merged into rs971016458 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: X:46598783 (GRCh38)
X:46458218 (GRCh37)
Canonical SPDI:: NC_000023.11:46598780:AGAG:AG,NC_000023.11:46598780:AGAG:AGAGAG
Gene:: CHST7 (Varview), SLC9A7 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
HGVS:: NC_000023.11:g.46598781AG[1], NC_000023.11:g.46598781AG[3], NC_000023.10:g.46458216AG[1], NC_000023.10:g.46458216AG[3], NG_012622.2:g.165254CT[1], NG_012622.2:g.165254CT[3], NG_029799.1:g.30025AG[1], NG_029799.1:g.30025AG[3]

Select item 14915311893.

rs1491531189 has merged into rs397895552 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:46675081 (GRCh38)
X:46534516 (GRCh37)
Canonical SPDI:: NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:46675061:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.0748/216 (ALSPAC)
HGVS:: NC_000023.11:g.46675063GT[9], NC_000023.11:g.46675063GT[10], NC_000023.11:g.46675063GT[11], NC_000023.11:g.46675063GT[12], NC_000023.11:g.46675063GT[13], NC_000023.11:g.46675063GT[14], NC_000023.11:g.46675063GT[15], NC_000023.11:g.46675063GT[16], NC_000023.11:g.46675063GT[17], NC_000023.11:g.46675063GT[18], NC_000023.11:g.46675063GT[19], NC_000023.11:g.46675063GT[20], NC_000023.11:g.46675063GT[21], NC_000023.11:g.46675063GT[22], NC_000023.11:g.46675063GT[23], NC_000023.11:g.46675063GT[24], NC_000023.11:g.46675063GT[25], NC_000023.11:g.46675063GT[26], NC_000023.11:g.46675063GT[27], NC_000023.11:g.46675063GT[28], NC_000023.11:g.46675063GT[30], NC_000023.11:g.46675063GT[31], NC_000023.11:g.46675063GT[32], NC_000023.11:g.46675063GT[33], NC_000023.11:g.46675063GT[34], NC_000023.11:g.46675063GT[35], NC_000023.11:g.46675063GT[36], NC_000023.11:g.46675063GT[37], NC_000023.11:g.46675063GT[38], NC_000023.11:g.46675063GT[39], NC_000023.11:g.46675063GT[40], NC_000023.11:g.46675063GT[41], NC_000023.11:g.46675063GT[42], NC_000023.10:g.46534498GT[9], NC_000023.10:g.46534498GT[10], NC_000023.10:g.46534498GT[11], NC_000023.10:g.46534498GT[12], NC_000023.10:g.46534498GT[13], NC_000023.10:g.46534498GT[14], NC_000023.10:g.46534498GT[15], NC_000023.10:g.46534498GT[16], NC_000023.10:g.46534498GT[17], NC_000023.10:g.46534498GT[18], NC_000023.10:g.46534498GT[19], NC_000023.10:g.46534498GT[20], NC_000023.10:g.46534498GT[21], NC_000023.10:g.46534498GT[22], NC_000023.10:g.46534498GT[23], NC_000023.10:g.46534498GT[24], NC_000023.10:g.46534498GT[25], NC_000023.10:g.46534498GT[26], NC_000023.10:g.46534498GT[27], NC_000023.10:g.46534498GT[28], NC_000023.10:g.46534498GT[30], NC_000023.10:g.46534498GT[31], NC_000023.10:g.46534498GT[32], NC_000023.10:g.46534498GT[33], NC_000023.10:g.46534498GT[34], NC_000023.10:g.46534498GT[35], NC_000023.10:g.46534498GT[36], NC_000023.10:g.46534498GT[37], NC_000023.10:g.46534498GT[38], NC_000023.10:g.46534498GT[39], NC_000023.10:g.46534498GT[40], NC_000023.10:g.46534498GT[41], NC_000023.10:g.46534498GT[42], NG_012622.2:g.88919CA[9], NG_012622.2:g.88919CA[10], NG_012622.2:g.88919CA[11], NG_012622.2:g.88919CA[12], NG_012622.2:g.88919CA[13], NG_012622.2:g.88919CA[14], NG_012622.2:g.88919CA[15], NG_012622.2:g.88919CA[16], NG_012622.2:g.88919CA[17], NG_012622.2:g.88919CA[18], NG_012622.2:g.88919CA[19], NG_012622.2:g.88919CA[20], NG_012622.2:g.88919CA[21], NG_012622.2:g.88919CA[22], NG_012622.2:g.88919CA[23], NG_012622.2:g.88919CA[24], NG_012622.2:g.88919CA[25], NG_012622.2:g.88919CA[26], NG_012622.2:g.88919CA[27], NG_012622.2:g.88919CA[28], NG_012622.2:g.88919CA[30], NG_012622.2:g.88919CA[31], NG_012622.2:g.88919CA[32], NG_012622.2:g.88919CA[33], NG_012622.2:g.88919CA[34], NG_012622.2:g.88919CA[35], NG_012622.2:g.88919CA[36], NG_012622.2:g.88919CA[37], NG_012622.2:g.88919CA[38], NG_012622.2:g.88919CA[39], NG_012622.2:g.88919CA[40], NG_012622.2:g.88919CA[41], NG_012622.2:g.88919CA[42]

Select item 14915309724.

rs1491530972 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTGTG,GTGTGTG [Show Flanks]
Chromosome:: X:46675120 (GRCh38)
X:46534556 (GRCh37)
Canonical SPDI:: NC_000023.11:46675120::G,NC_000023.11:46675120::GTGTG,NC_000023.11:46675120::GTGTGTG
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.46675120_46675121insG, NC_000023.11:g.46675120_46675121insGTGTG, NC_000023.11:g.46675120_46675121insGTGTGTG, NC_000023.10:g.46534555_46534556insG, NC_000023.10:g.46534555_46534556insGTGTG, NC_000023.10:g.46534555_46534556insGTGTGTG, NG_012622.2:g.88917_88918insC, NG_012622.2:g.88917_88918insCACAC, NG_012622.2:g.88917_88918insCACACAC

Select item 14915231815.

rs1491523181 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:46730670 (GRCh38)
X:46590105 (GRCh37)
Canonical SPDI:: NC_000023.11:46730669:TT:
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00005/1 (TOMMO)
-=0.002/26 (GnomAD)
HGVS:: NC_000023.11:g.46730670_46730671del, NC_000023.10:g.46590105_46590106del, NG_012622.2:g.33367_33368del

Select item 14914575916.

rs1491457591 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:46675061 (GRCh38)
X:46534496 (GRCh37)
Canonical SPDI:: NC_000023.11:46675060:AT:
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00005/2 (GnomAD)
HGVS:: NC_000023.11:g.46675061_46675062del, NC_000023.10:g.46534496_46534497del, NG_012622.2:g.88976_88977del

Select item 14914282297.

rs1491428229 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: X:46675121 (GRCh38)
X:46534556 (GRCh37)
Canonical SPDI:: NC_000023.11:46675119:TTT:T
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
-=0.00016/12 (GnomAD)
HGVS:: NC_000023.11:g.46675121_46675122del, NC_000023.10:g.46534556_46534557del, NG_012622.2:g.88917_88918del

Select item 14914237468.

rs1491423746 has merged into rs34909321 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC [Show Flanks]
Chromosome:: X:46624239 (GRCh38)
X:46483674 (GRCh37)
Canonical SPDI:: NC_000023.11:46624233:CCCCCCCC:CCCCC,NC_000023.11:46624233:CCCCCCCC:CCCCCC,NC_000023.11:46624233:CCCCCCCC:CCCCCCC,NC_000023.11:46624233:CCCCCCCC:CCCCCCCCC
Gene:: SLC9A7 (Varview), LOC124905182 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
-=0.0034/13 (1000Genomes)
-=0.325/13 (GENOME_DK)
-=0.4846/1797 (TWINSUK)
-=0.4967/1435 (ALSPAC)
HGVS:: NC_000023.11:g.46624239_46624241del, NC_000023.11:g.46624240_46624241del, NC_000023.11:g.46624241del, NC_000023.11:g.46624241dup, NC_000023.10:g.46483674_46483676del, NC_000023.10:g.46483675_46483676del, NC_000023.10:g.46483676del, NC_000023.10:g.46483676dup, NG_012622.2:g.139802_139804del, NG_012622.2:g.139803_139804del, NG_012622.2:g.139804del, NG_012622.2:g.139804dup, XR_007068222.1:n.10852_10854del, XR_007068222.1:n.10853_10854del, XR_007068222.1:n.10854del, XR_007068222.1:n.10854dup

Select item 14914198699.

rs1491419869 has merged into rs60881484 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:46654991 (GRCh38)
X:46514426 (GRCh37)
Canonical SPDI:: NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:46654982:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTT=0.19522/564 (ALSPAC)
TTTT=0.25216/935 (TWINSUK)
HGVS:: NC_000023.11:g.46654991_46655002del, NC_000023.11:g.46654993_46655002del, NC_000023.11:g.46654995_46655002del, NC_000023.11:g.46654996_46655002del, NC_000023.11:g.46654997_46655002del, NC_000023.11:g.46654998_46655002del, NC_000023.11:g.46654999_46655002del, NC_000023.11:g.46655000_46655002del, NC_000023.11:g.46655001_46655002del, NC_000023.11:g.46655002del, NC_000023.11:g.46655002dup, NC_000023.11:g.46655001_46655002dup, NC_000023.11:g.46654983_46655002T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.11:g.46655000_46655002dup, NC_000023.11:g.46654999_46655002dup, NC_000023.11:g.46654997_46655002dup, NC_000023.11:g.46654996_46655002dup, NC_000023.11:g.46654995_46655002dup, NC_000023.11:g.46654994_46655002dup, NC_000023.11:g.46654993_46655002dup, NC_000023.11:g.46654988_46655002dup, NC_000023.11:g.46654987_46655002dup, NC_000023.11:g.46654986_46655002dup, NC_000023.11:g.46654984_46655002dup, NC_000023.11:g.46655002_46655003insTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.46655002_46655003insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.46655002_46655003insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.46655002_46655003insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.46514426_46514437del, NC_000023.10:g.46514428_46514437del, NC_000023.10:g.46514430_46514437del, NC_000023.10:g.46514431_46514437del, NC_000023.10:g.46514432_46514437del, NC_000023.10:g.46514433_46514437del, NC_000023.10:g.46514434_46514437del, NC_000023.10:g.46514435_46514437del, NC_000023.10:g.46514436_46514437del, NC_000023.10:g.46514437del, NC_000023.10:g.46514437dup, NC_000023.10:g.46514436_46514437dup, NC_000023.10:g.46514418_46514437T[22]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.10:g.46514435_46514437dup, NC_000023.10:g.46514434_46514437dup, NC_000023.10:g.46514432_46514437dup, NC_000023.10:g.46514431_46514437dup, NC_000023.10:g.46514430_46514437dup, NC_000023.10:g.46514429_46514437dup, NC_000023.10:g.46514428_46514437dup, NC_000023.10:g.46514423_46514437dup, NC_000023.10:g.46514422_46514437dup, NC_000023.10:g.46514421_46514437dup, NC_000023.10:g.46514419_46514437dup, NC_000023.10:g.46514437_46514438insTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.46514437_46514438insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.46514437_46514438insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.46514437_46514438insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012622.2:g.109044_109055del, NG_012622.2:g.109046_109055del, NG_012622.2:g.109048_109055del, NG_012622.2:g.109049_109055del, NG_012622.2:g.109050_109055del, NG_012622.2:g.109051_109055del, NG_012622.2:g.109052_109055del, NG_012622.2:g.109053_109055del, NG_012622.2:g.109054_109055del, NG_012622.2:g.109055del, NG_012622.2:g.109055dup, NG_012622.2:g.109054_109055dup, NG_012622.2:g.109036_109055A[21]GAAAAAAAAAAAAAAAAAAAAAA[1], NG_012622.2:g.109053_109055dup, NG_012622.2:g.109052_109055dup, NG_012622.2:g.109050_109055dup, NG_012622.2:g.109049_109055dup, NG_012622.2:g.109048_109055dup, NG_012622.2:g.109047_109055dup, NG_012622.2:g.109046_109055dup, NG_012622.2:g.109041_109055dup, NG_012622.2:g.109040_109055dup, NG_012622.2:g.109039_109055dup, NG_012622.2:g.109037_109055dup, NG_012622.2:g.109055_109056insAAAAAAAAAAAAAAAAAAAAAAA, NG_012622.2:g.109055_109056insAAAAAAAAAAAAAAAAAAAAAAAA, NG_012622.2:g.109055_109056insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012622.2:g.109055_109056insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149141919410.

rs1491419194 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATA [Show Flanks]
Chromosome:: X:46731431 (GRCh38)
X:46590867 (GRCh37)
Canonical SPDI:: NC_000023.11:46731431:TA:TATATA
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
TATA=0.00007/2 (GnomAD)
TATA=0.00042/2 (1000Genomes)
HGVS:: NC_000023.11:g.46731432TA[3], NC_000023.10:g.46590867TA[3], NG_012622.2:g.32605TA[3]

Select item 149129525111.

rs1491295251 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATA,AATATA,AATATATA,AATATATATA,AATATATATATA,AATATATATATATA,AATATATATATATATA,AATATATATATATATATA,AATATATATATATATATATA,AATATATATATATATATATATA,AATATATATATATATATATATATA,AATATATATATATATATATATATATA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,CATATATATA [Show Flanks]
Chromosome:: X:46730670 (GRCh38)
X:46590106 (GRCh37)
Canonical SPDI:: NC_000023.11:46730670::A,NC_000023.11:46730670::AA,NC_000023.11:46730670::AATA,NC_000023.11:46730670::AATATA,NC_000023.11:46730670::AATATATA,NC_000023.11:46730670::AATATATATA,NC_000023.11:46730670::AATATATATATA,NC_000023.11:46730670::AATATATATATATA,NC_000023.11:46730670::AATATATATATATATA,NC_000023.11:46730670::AATATATATATATATATA,NC_000023.11:46730670::AATATATATATATATATATA,NC_000023.11:46730670::AATATATATATATATATATATA,NC_000023.11:46730670::AATATATATATATATATATATATA,NC_000023.11:46730670::AATATATATATATATATATATATATA,NC_000023.11:46730670::ATA,NC_000023.11:46730670::ATATA,NC_000023.11:46730670::ATATATA,NC_000023.11:46730670::ATATATATA,NC_000023.11:46730670::ATATATATATA,NC_000023.11:46730670::ATATATATATATA,NC_000023.11:46730670::ATATATATATATATA,NC_000023.11:46730670::ATATATATATATATATA,NC_000023.11:46730670::ATATATATATATATATATA,NC_000023.11:46730670::ATATATATATATATATATATA,NC_000023.11:46730670::CATATATATA
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000023.11:g.46730670_46730671insA, NC_000023.11:g.46730670_46730671insAA, NC_000023.11:g.46730670_46730671insAATA, NC_000023.11:g.46730670_46730671insAATATA, NC_000023.11:g.46730670_46730671insAATATATA, NC_000023.11:g.46730670_46730671insAATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATATATATATATA, NC_000023.11:g.46730670_46730671insAATATATATATATATATATATATATA, NC_000023.11:g.46730670_46730671insATA, NC_000023.11:g.46730670_46730671insATATA, NC_000023.11:g.46730670_46730671insATATATA, NC_000023.11:g.46730670_46730671insATATATATA, NC_000023.11:g.46730670_46730671insATATATATATA, NC_000023.11:g.46730670_46730671insATATATATATATA, NC_000023.11:g.46730670_46730671insATATATATATATATA, NC_000023.11:g.46730670_46730671insATATATATATATATATA, NC_000023.11:g.46730670_46730671insATATATATATATATATATA, NC_000023.11:g.46730670_46730671insATATATATATATATATATATA, NC_000023.11:g.46730670_46730671insCATATATATA, NC_000023.10:g.46590105_46590106insA, NC_000023.10:g.46590105_46590106insAA, NC_000023.10:g.46590105_46590106insAATA, NC_000023.10:g.46590105_46590106insAATATA, NC_000023.10:g.46590105_46590106insAATATATA, NC_000023.10:g.46590105_46590106insAATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATATATATATATA, NC_000023.10:g.46590105_46590106insAATATATATATATATATATATATATA, NC_000023.10:g.46590105_46590106insATA, NC_000023.10:g.46590105_46590106insATATA, NC_000023.10:g.46590105_46590106insATATATA, NC_000023.10:g.46590105_46590106insATATATATA, NC_000023.10:g.46590105_46590106insATATATATATA, NC_000023.10:g.46590105_46590106insATATATATATATA, NC_000023.10:g.46590105_46590106insATATATATATATATA, NC_000023.10:g.46590105_46590106insATATATATATATATATA, NC_000023.10:g.46590105_46590106insATATATATATATATATATA, NC_000023.10:g.46590105_46590106insATATATATATATATATATATA, NC_000023.10:g.46590105_46590106insCATATATATA, NG_012622.2:g.33367_33368insT, NG_012622.2:g.33367_33368insTT, NG_012622.2:g.33367_33368insTATT, NG_012622.2:g.33367_33368insTATATT, NG_012622.2:g.33367_33368insTATATATT, NG_012622.2:g.33367_33368insTATATATATT, NG_012622.2:g.33367_33368insTATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATATATATATATT, NG_012622.2:g.33367_33368insTATATATATATATATATATATATATT, NG_012622.2:g.33367_33368insTAT, NG_012622.2:g.33367_33368insTATAT, NG_012622.2:g.33367_33368insTATATAT, NG_012622.2:g.33367_33368insTATATATAT, NG_012622.2:g.33367_33368insTATATATATAT, NG_012622.2:g.33367_33368insTATATATATATAT, NG_012622.2:g.33367_33368insTATATATATATATAT, NG_012622.2:g.33367_33368insTATATATATATATATAT, NG_012622.2:g.33367_33368insTATATATATATATATATAT, NG_012622.2:g.33367_33368insTATATATATATATATATATAT, NG_012622.2:g.33367_33368insTATATATATG

Select item 149124132612.

rs1491241326 has merged into rs35933452 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: X:46689600 (GRCh38)
X:46549035 (GRCh37)
Canonical SPDI:: NC_000023.11:46689592:TTTTTTTTTTTT:TTTTTTT,NC_000023.11:46689592:TTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:46689592:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:46689592:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:46689592:TTTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.1603/463 (ALSPAC)
TT=0.2458/306 (1000Genomes)
HGVS:: NC_000023.11:g.46689600_46689604del, NC_000023.11:g.46689602_46689604del, NC_000023.11:g.46689603_46689604del, NC_000023.11:g.46689604del, NC_000023.11:g.46689604dup, NC_000023.10:g.46549035_46549039del, NC_000023.10:g.46549037_46549039del, NC_000023.10:g.46549038_46549039del, NC_000023.10:g.46549039del, NC_000023.10:g.46549039dup, NG_012622.2:g.74441_74445del, NG_012622.2:g.74443_74445del, NG_012622.2:g.74444_74445del, NG_012622.2:g.74445del, NG_012622.2:g.74445dup

Select item 149119969713.

rs1491199697 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAAAAAA [Show Flanks]
Chromosome:: X:46731447 (GRCh38)
X:46590883 (GRCh37)
Canonical SPDI:: NC_000023.11:46731447::AAAAAAAAAAA
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.46731447_46731448insAAAAAAAAAAA, NC_000023.10:g.46590882_46590883insAAAAAAAAAAA, NG_012622.2:g.32590_32591insTTTTTTTTTTT

Select item 149119548614.

rs1491195486 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: X:46740902 (GRCh38)
X:46600337 (GRCh37)
Canonical SPDI:: NC_000023.11:46740901:GC:
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.46740902_46740903del, NC_000023.10:g.46600337_46600338del, NG_012622.2:g.23135_23136del

Select item 149115291315.

rs1491152913 has merged into rs57157177 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: X:46730681 (GRCh38)
X:46590116 (GRCh37)
Canonical SPDI:: NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:46730670:TATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
TATATATATATATATA=0./0 (GENOME_DK)
HGVS:: NC_000023.11:g.46730671TA[5], NC_000023.11:g.46730671TA[6], NC_000023.11:g.46730671TA[7], NC_000023.11:g.46730671TA[8], NC_000023.11:g.46730671TA[9], NC_000023.11:g.46730671TA[10], NC_000023.11:g.46730671TA[11], NC_000023.11:g.46730671TA[12], NC_000023.11:g.46730671TA[13], NC_000023.11:g.46730671TA[14], NC_000023.11:g.46730671TA[15], NC_000023.11:g.46730671TA[16], NC_000023.11:g.46730671TA[17], NC_000023.11:g.46730671TA[18], NC_000023.11:g.46730671TA[19], NC_000023.11:g.46730671TA[21], NC_000023.11:g.46730671TA[22], NC_000023.11:g.46730671TA[23], NC_000023.11:g.46730671TA[24], NC_000023.11:g.46730671TA[25], NC_000023.11:g.46730671TA[26], NC_000023.11:g.46730671TA[27], NC_000023.11:g.46730671TA[28], NC_000023.11:g.46730671TA[29], NC_000023.11:g.46730671TA[30], NC_000023.11:g.46730671TA[31], NC_000023.11:g.46730671TA[32], NC_000023.11:g.46730671TA[33], NC_000023.11:g.46730671TA[34], NC_000023.10:g.46590106TA[5], NC_000023.10:g.46590106TA[6], NC_000023.10:g.46590106TA[7], NC_000023.10:g.46590106TA[8], NC_000023.10:g.46590106TA[9], NC_000023.10:g.46590106TA[10], NC_000023.10:g.46590106TA[11], NC_000023.10:g.46590106TA[12], NC_000023.10:g.46590106TA[13], NC_000023.10:g.46590106TA[14], NC_000023.10:g.46590106TA[15], NC_000023.10:g.46590106TA[16], NC_000023.10:g.46590106TA[17], NC_000023.10:g.46590106TA[18], NC_000023.10:g.46590106TA[19], NC_000023.10:g.46590106TA[21], NC_000023.10:g.46590106TA[22], NC_000023.10:g.46590106TA[23], NC_000023.10:g.46590106TA[24], NC_000023.10:g.46590106TA[25], NC_000023.10:g.46590106TA[26], NC_000023.10:g.46590106TA[27], NC_000023.10:g.46590106TA[28], NC_000023.10:g.46590106TA[29], NC_000023.10:g.46590106TA[30], NC_000023.10:g.46590106TA[31], NC_000023.10:g.46590106TA[32], NC_000023.10:g.46590106TA[33], NC_000023.10:g.46590106TA[34], NG_012622.2:g.33328TA[5], NG_012622.2:g.33328TA[6], NG_012622.2:g.33328TA[7], NG_012622.2:g.33328TA[8], NG_012622.2:g.33328TA[9], NG_012622.2:g.33328TA[10], NG_012622.2:g.33328TA[11], NG_012622.2:g.33328TA[12], NG_012622.2:g.33328TA[13], NG_012622.2:g.33328TA[14], NG_012622.2:g.33328TA[15], NG_012622.2:g.33328TA[16], NG_012622.2:g.33328TA[17], NG_012622.2:g.33328TA[18], NG_012622.2:g.33328TA[19], NG_012622.2:g.33328TA[21], NG_012622.2:g.33328TA[22], NG_012622.2:g.33328TA[23], NG_012622.2:g.33328TA[24], NG_012622.2:g.33328TA[25], NG_012622.2:g.33328TA[26], NG_012622.2:g.33328TA[27], NG_012622.2:g.33328TA[28], NG_012622.2:g.33328TA[29], NG_012622.2:g.33328TA[30], NG_012622.2:g.33328TA[31], NG_012622.2:g.33328TA[32], NG_012622.2:g.33328TA[33], NG_012622.2:g.33328TA[34]

Select item 149114128816.

rs1491141288 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:46731431 (GRCh38)
X:46590866 (GRCh37)
Canonical SPDI:: NC_000023.11:46731430:TT:
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.46731431_46731432del, NC_000023.10:g.46590866_46590867del, NG_012622.2:g.32606_32607del

Select item 149110747117.

rs1491107471 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGGAAGGA [Show Flanks]
Chromosome:: X:46748370 (GRCh38)
X:46607806 (GRCh37)
Canonical SPDI:: NC_000023.11:46748370:GGAAGGA:GGAAGGAGGGAAGGA
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.46748377_46748378insGGGAAGGA, NC_000023.10:g.46607812_46607813insGGGAAGGA, NG_012622.2:g.15667_15668insCTCCTTCC

Select item 149104057918.

rs1491040579 has merged into rs571615783 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: X:46604448 (GRCh38)
X:46463883 (GRCh37)
Canonical SPDI:: NC_000023.11:46604434:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:46604434:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:46604434:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:46604434:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:46604434:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:46604434:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.46604448_46604450del, NC_000023.11:g.46604449_46604450del, NC_000023.11:g.46604450del, NC_000023.11:g.46604450dup, NC_000023.11:g.46604449_46604450dup, NC_000023.11:g.46604448_46604450dup, NC_000023.10:g.46463883_46463885del, NC_000023.10:g.46463884_46463885del, NC_000023.10:g.46463885del, NC_000023.10:g.46463885dup, NC_000023.10:g.46463884_46463885dup, NC_000023.10:g.46463883_46463885dup, NG_012622.2:g.159601_159603del, NG_012622.2:g.159602_159603del, NG_012622.2:g.159603del, NG_012622.2:g.159603dup, NG_012622.2:g.159602_159603dup, NG_012622.2:g.159601_159603dup, NM_032591.3:c.*2515_*2517del, NM_032591.3:c.*2516_*2517del, NM_032591.3:c.*2517del, NM_032591.3:c.*2517dup, NM_032591.3:c.*2516_*2517dup, NM_032591.3:c.*2515_*2517dup, NM_032591.2:c.*2515_*2517del, NM_032591.2:c.*2516_*2517del, NM_032591.2:c.*2517del, NM_032591.2:c.*2517dup, NM_032591.2:c.*2516_*2517dup, NM_032591.2:c.*2515_*2517dup, NM_001257291.2:c.*2515_*2517del, NM_001257291.2:c.*2516_*2517del, NM_001257291.2:c.*2517del, NM_001257291.2:c.*2517dup, NM_001257291.2:c.*2516_*2517dup, NM_001257291.2:c.*2515_*2517dup, NM_001257291.1:c.*2515_*2517del, NM_001257291.1:c.*2516_*2517del, NM_001257291.1:c.*2517del, NM_001257291.1:c.*2517dup, NM_001257291.1:c.*2516_*2517dup, NM_001257291.1:c.*2515_*2517dup, XM_005272681.5:c.*1978_*1980del, XM_005272681.5:c.*1979_*1980del, XM_005272681.5:c.*1980del, XM_005272681.5:c.*1980dup, XM_005272681.5:c.*1979_*1980dup, XM_005272681.5:c.*1978_*1980dup, XM_005272681.4:c.*1978_*1980del, XM_005272681.4:c.*1979_*1980del, XM_005272681.4:c.*1980del, XM_005272681.4:c.*1980dup, XM_005272681.4:c.*1979_*1980dup, XM_005272681.4:c.*1978_*1980dup, XM_005272682.5:c.*1962_*1964del, XM_005272682.5:c.*1963_*1964del, XM_005272682.5:c.*1964del, XM_005272682.5:c.*1964dup, XM_005272682.5:c.*1963_*1964dup, XM_005272682.5:c.*1962_*1964dup, XM_005272682.4:c.*1962_*1964del, XM_005272682.4:c.*1963_*1964del, XM_005272682.4:c.*1964del, XM_005272682.4:c.*1964dup, XM_005272682.4:c.*1963_*1964dup, XM_005272682.4:c.*1962_*1964dup, XM_017029906.3:c.*1978_*1980del, XM_017029906.3:c.*1979_*1980del, XM_017029906.3:c.*1980del, XM_017029906.3:c.*1980dup, XM_017029906.3:c.*1979_*1980dup, XM_017029906.3:c.*1978_*1980dup, XM_017029906.2:c.*1978_*1980del, XM_017029906.2:c.*1979_*1980del, XM_017029906.2:c.*1980del, XM_017029906.2:c.*1980dup, XM_017029906.2:c.*1979_*1980dup, XM_017029906.2:c.*1978_*1980dup, XM_017029906.1:c.*1978_*1980del, XM_017029906.1:c.*1979_*1980del, XM_017029906.1:c.*1980del, XM_017029906.1:c.*1980dup, XM_017029906.1:c.*1979_*1980dup, XM_017029906.1:c.*1978_*1980dup, XM_047442581.1:c.*1962_*1964del, XM_047442581.1:c.*1963_*1964del, XM_047442581.1:c.*1964del, XM_047442581.1:c.*1964dup, XM_047442581.1:c.*1963_*1964dup, XM_047442581.1:c.*1962_*1964dup, XR_007068203.1:n.4232_4234del, XR_007068203.1:n.4233_4234del, XR_007068203.1:n.4234del, XR_007068203.1:n.4234dup, XR_007068203.1:n.4233_4234dup, XR_007068203.1:n.4232_4234dup

Select item 149099377619.

rs1490993776 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:46634522 (GRCh38)
X:46493957 (GRCh37)
Canonical SPDI:: NC_000023.11:46634521:T:A
Gene:: SLC9A7 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.46634522T>A, NC_000023.10:g.46493957T>A, NG_012622.2:g.129516A>T

Select item 149098555820.

rs1490985558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:46736180 (GRCh38)
X:46595615 (GRCh37)
Canonical SPDI:: NC_000023.11:46736179:T:A
Gene:: SLC9A7 (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.46736180T>A, NC_000023.10:g.46595615T>A, NG_012622.2:g.27858A>T

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