SNP Links for Nucleotide (Select 284005317) - SNP

Links from Nucleotide

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Select item 14915116491.

rs1491511649 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:130113427 (GRCh38)
X:129247402 (GRCh37)
Canonical SPDI:: NC_000023.11:130113426:AT:
Gene:: ELF4 (Varview), RAB33A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00007/6 (GnomAD)
-=0.00009/2 (TOMMO)
HGVS:: NC_000023.11:g.130113427_130113428del, NC_000023.10:g.129247402_129247403del, NG_016388.1:g.2286_2287del

Select item 14914693882.

rs1491469388 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: X:130078806 (GRCh38)
X:129212782 (GRCh37)
Canonical SPDI:: NC_000023.11:130078806:AA:AAA,NC_000023.11:130078806:AA:AAAA
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
AA=0.0001/9 (GnomAD)
A=0.00021/1 (1000Genomes)
HGVS:: NC_000023.11:g.130078808dup, NC_000023.11:g.130078807_130078808dup, NC_000023.10:g.129212783dup, NC_000023.10:g.129212782_129212783dup, NG_016388.1:g.36907dup, NG_016388.1:g.36906_36907dup

Select item 14914375293.

rs1491437529 has merged into rs34300441 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: X:130113438 (GRCh38)
X:129247413 (GRCh37)
Canonical SPDI:: NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:130113427:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: ELF4 (Varview), RAB33A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.130113438_130113440del, NC_000023.11:g.130113439_130113440del, NC_000023.11:g.130113440del, NC_000023.11:g.130113440dup, NC_000023.11:g.130113439_130113440dup, NC_000023.10:g.129247413_129247415del, NC_000023.10:g.129247414_129247415del, NC_000023.10:g.129247415del, NC_000023.10:g.129247415dup, NC_000023.10:g.129247414_129247415dup, NG_016388.1:g.2284_2286del, NG_016388.1:g.2285_2286del, NG_016388.1:g.2286del, NG_016388.1:g.2286dup, NG_016388.1:g.2285_2286dup

Select item 14914184914.

rs1491418491 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:130105854 (GRCh38)
X:129239829 (GRCh37)
Canonical SPDI:: NC_000023.11:130105853:CT:
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00056/38 (GnomAD)
-=0.00099/12 (TOMMO)
HGVS:: NC_000023.11:g.130105854_130105855del, NC_000023.10:g.129239829_129239830del, NG_016388.1:g.9859_9860del

Select item 14912813295.

rs1491281329 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: X:130102888 (GRCh38)
X:129236863 (GRCh37)
Canonical SPDI:: NC_000023.11:130102886:AAA:A,NC_000023.11:130102886:AAA:AAAA
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00031/4 (TOMMO)
-=0.10003/289 (ALSPAC)
-=0.12001/445 (TWINSUK)
HGVS:: NC_000023.11:g.130102888_130102889del, NC_000023.11:g.130102889dup, NC_000023.10:g.129236863_129236864del, NC_000023.10:g.129236864dup, NG_016388.1:g.12826_12827del, NG_016388.1:g.12827dup

Select item 14911240076.

rs1491124007 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:130105016 (GRCh38)
X:129238991 (GRCh37)
Canonical SPDI:: NC_000023.11:130105014:AGA:A
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.01184/184 (ALFA)
-=0.00383/47 (TOMMO)
-=0.02289/110 (1000Genomes)
-=0.02658/1850 (GnomAD)
HGVS:: NC_000023.11:g.130105016_130105017del, NC_000023.10:g.129238991_129238992del, NG_016388.1:g.10698_10699del

Select item 14911140547.

rs1491114054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:130115663 (GRCh38)
X:129249638 (GRCh37)
Canonical SPDI:: NC_000023.11:130115661:AAA:A
Gene:: RAB33A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00329/39 (ALFA)
-=0.00334/294 (GnomAD)
-=0.00761/97 (TOMMO)
HGVS:: NC_000023.11:g.130115663_130115664del, NC_000023.10:g.129249638_129249639del, NG_016388.1:g.51_52del

Select item 14910948528.

rs1491094852 has merged into rs748191970 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: X:130102870 (GRCh38)
X:129236845 (GRCh37)
Canonical SPDI:: NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:130102853:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000023.11:g.130102854GA[8], NC_000023.11:g.130102854GA[9], NC_000023.11:g.130102854GA[10], NC_000023.11:g.130102854GA[11], NC_000023.11:g.130102854GA[12], NC_000023.11:g.130102854GA[13], NC_000023.11:g.130102854GA[14], NC_000023.11:g.130102854GA[15], NC_000023.11:g.130102854GA[16], NC_000023.11:g.130102854GA[18], NC_000023.11:g.130102854GA[19], NC_000023.11:g.130102854GA[20], NC_000023.11:g.130102854GA[21], NC_000023.10:g.129236829GA[8], NC_000023.10:g.129236829GA[9], NC_000023.10:g.129236829GA[10], NC_000023.10:g.129236829GA[11], NC_000023.10:g.129236829GA[12], NC_000023.10:g.129236829GA[13], NC_000023.10:g.129236829GA[14], NC_000023.10:g.129236829GA[15], NC_000023.10:g.129236829GA[16], NC_000023.10:g.129236829GA[18], NC_000023.10:g.129236829GA[19], NC_000023.10:g.129236829GA[20], NC_000023.10:g.129236829GA[21], NG_016388.1:g.12827TC[8], NG_016388.1:g.12827TC[9], NG_016388.1:g.12827TC[10], NG_016388.1:g.12827TC[11], NG_016388.1:g.12827TC[12], NG_016388.1:g.12827TC[13], NG_016388.1:g.12827TC[14], NG_016388.1:g.12827TC[15], NG_016388.1:g.12827TC[16], NG_016388.1:g.12827TC[18], NG_016388.1:g.12827TC[19], NG_016388.1:g.12827TC[20], NG_016388.1:g.12827TC[21]

Select item 14910757319.

rs1491075731 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: X:130102862 (GRCh38)
X:129236838 (GRCh37)
Canonical SPDI:: NC_000023.11:130102862:A:AAA
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000023.11:g.130102863_130102864insAA, NC_000023.10:g.129236838_129236839insAA, NG_016388.1:g.12851_12852insTT

Select item 149083533610.

rs1490835336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130099221 (GRCh38)
X:129233196 (GRCh37)
Canonical SPDI:: NC_000023.11:130099220:C:T
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.130099221C>T, NC_000023.10:g.129233196C>T, NG_016388.1:g.16493G>A

Select item 149072691411.

rs1490726914 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:130086105 (GRCh38)
X:129220080 (GRCh37)
Canonical SPDI:: NC_000023.11:130086104:A:G
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000029/3 (GnomAD)
G=0.00009/2 (TOMMO)
HGVS:: NC_000023.11:g.130086105A>G, NC_000023.10:g.129220080A>G, NG_016388.1:g.29609T>C

Select item 149069660212.

rs1490696602 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:130083109 (GRCh38)
X:129217083 (GRCh37)
Canonical SPDI:: NC_000023.11:130083108:C:G
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.130083109C>G, NC_000023.10:g.129217083C>G, NG_016388.1:g.32606G>C

Select item 149067006313.

rs1490670063 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:130068213 (GRCh38)
X:129202188 (GRCh37)
Canonical SPDI:: NC_000023.11:130068212:A:G
Gene:: ELF4 (Varview)
Functional Consequence:: intron_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.130068213A>G, NC_000023.10:g.129202188A>G, NG_016388.1:g.47501T>C

Select item 149066978114.

rs1490669781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130111135 (GRCh38)
X:129245110 (GRCh37)
Canonical SPDI:: NC_000023.11:130111134:C:T
Gene:: ELF4 (Varview), RAB33A (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=0.000026/7 (TOPMED)
T=0.000029/3 (GnomAD)
T=0.001575/20 (TOMMO)
HGVS:: NC_000023.11:g.130111135C>T, NC_000023.10:g.129245110C>T, NG_016388.1:g.4579G>A

Select item 149062122215.

rs1490621222 has merged into rs777456574 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:130089521 (GRCh38)
X:129223496 (GRCh37)
Canonical SPDI:: NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:130089509:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ELF4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.036/104 (ALSPAC)
-=0.0531/197 (TWINSUK)
HGVS:: NC_000023.11:g.130089521_130089537del, NC_000023.11:g.130089522_130089537del, NC_000023.11:g.130089523_130089537del, NC_000023.11:g.130089525_130089537del, NC_000023.11:g.130089526_130089537del, NC_000023.11:g.130089527_130089537del, NC_000023.11:g.130089528_130089537del, NC_000023.11:g.130089529_130089537del, NC_000023.11:g.130089530_130089537del, NC_000023.11:g.130089531_130089537del, NC_000023.11:g.130089532_130089537del, NC_000023.11:g.130089533_130089537del, NC_000023.11:g.130089534_130089537del, NC_000023.11:g.130089535_130089537del, NC_000023.11:g.130089536_130089537del, NC_000023.11:g.130089537del, NC_000023.11:g.130089537dup, NC_000023.11:g.130089536_130089537dup, NC_000023.11:g.130089535_130089537dup, NC_000023.11:g.130089534_130089537dup, NC_000023.11:g.130089533_130089537dup, NC_000023.11:g.130089532_130089537dup, NC_000023.11:g.130089531_130089537dup, NC_000023.11:g.130089530_130089537dup, NC_000023.11:g.130089529_130089537dup, NC_000023.11:g.130089528_130089537dup, NC_000023.11:g.130089527_130089537dup, NC_000023.11:g.130089526_130089537dup, NC_000023.11:g.130089525_130089537dup, NC_000023.11:g.130089524_130089537dup, NC_000023.11:g.130089521_130089537dup, NC_000023.11:g.130089519_130089537dup, NC_000023.10:g.129223496_129223512del, NC_000023.10:g.129223497_129223512del, NC_000023.10:g.129223498_129223512del, NC_000023.10:g.129223500_129223512del, NC_000023.10:g.129223501_129223512del, NC_000023.10:g.129223502_129223512del, NC_000023.10:g.129223503_129223512del, NC_000023.10:g.129223504_129223512del, NC_000023.10:g.129223505_129223512del, NC_000023.10:g.129223506_129223512del, NC_000023.10:g.129223507_129223512del, NC_000023.10:g.129223508_129223512del, NC_000023.10:g.129223509_129223512del, NC_000023.10:g.129223510_129223512del, NC_000023.10:g.129223511_129223512del, NC_000023.10:g.129223512del, NC_000023.10:g.129223512dup, NC_000023.10:g.129223511_129223512dup, NC_000023.10:g.129223510_129223512dup, NC_000023.10:g.129223509_129223512dup, NC_000023.10:g.129223508_129223512dup, NC_000023.10:g.129223507_129223512dup, NC_000023.10:g.129223506_129223512dup, NC_000023.10:g.129223505_129223512dup, NC_000023.10:g.129223504_129223512dup, NC_000023.10:g.129223503_129223512dup, NC_000023.10:g.129223502_129223512dup, NC_000023.10:g.129223501_129223512dup, NC_000023.10:g.129223500_129223512dup, NC_000023.10:g.129223499_129223512dup, NC_000023.10:g.129223496_129223512dup, NC_000023.10:g.129223494_129223512dup, NG_016388.1:g.26188_26204del, NG_016388.1:g.26189_26204del, NG_016388.1:g.26190_26204del, NG_016388.1:g.26192_26204del, NG_016388.1:g.26193_26204del, NG_016388.1:g.26194_26204del, NG_016388.1:g.26195_26204del, NG_016388.1:g.26196_26204del, NG_016388.1:g.26197_26204del, NG_016388.1:g.26198_26204del, NG_016388.1:g.26199_26204del, NG_016388.1:g.26200_26204del, NG_016388.1:g.26201_26204del, NG_016388.1:g.26202_26204del, NG_016388.1:g.26203_26204del, NG_016388.1:g.26204del, NG_016388.1:g.26204dup, NG_016388.1:g.26203_26204dup, NG_016388.1:g.26202_26204dup, NG_016388.1:g.26201_26204dup, NG_016388.1:g.26200_26204dup, NG_016388.1:g.26199_26204dup, NG_016388.1:g.26198_26204dup, NG_016388.1:g.26197_26204dup, NG_016388.1:g.26196_26204dup, NG_016388.1:g.26195_26204dup, NG_016388.1:g.26194_26204dup, NG_016388.1:g.26193_26204dup, NG_016388.1:g.26192_26204dup, NG_016388.1:g.26191_26204dup, NG_016388.1:g.26188_26204dup, NG_016388.1:g.26186_26204dup

Select item 149060549816.

rs1490605498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:130088029 (GRCh38)
X:129222004 (GRCh37)
Canonical SPDI:: NC_000023.11:130088028:G:A
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.130088029G>A, NC_000023.10:g.129222004G>A, NG_016388.1:g.27685C>T

Select item 149058793017.

rs1490587930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130107226 (GRCh38)
X:129241201 (GRCh37)
Canonical SPDI:: NC_000023.11:130107225:C:T
Gene:: ELF4 (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.130107226C>T, NC_000023.10:g.129241201C>T, NG_016388.1:g.8488G>A

Select item 149041200018.

rs1490412000 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:130079031 (GRCh38)
X:129213006 (GRCh37)
Canonical SPDI:: NC_000023.11:130079030:G:T
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.130079031G>T, NC_000023.10:g.129213006G>T, NG_016388.1:g.36683C>A

Select item 149040761919.

rs1490407619 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:130077867 (GRCh38)
X:129211842 (GRCh37)
Canonical SPDI:: NC_000023.11:130077866:A:T
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.130077867A>T, NC_000023.10:g.129211842A>T, NG_016388.1:g.37847T>A

Select item 149034338120.

rs1490343381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:130099798 (GRCh38)
X:129233773 (GRCh37)
Canonical SPDI:: NC_000023.11:130099797:C:T
Gene:: ELF4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.130099798C>T, NC_000023.10:g.129233773C>T, NG_016388.1:g.15916G>A

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