SNP Links for Nucleotide (Select 212549711) - SNP

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Select item 14915863751.

rs1491586375 has merged into rs34892434 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: X:68389669 (GRCh38)
X:67609511 (GRCh37)
Canonical SPDI:: NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:68389657:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.3854/1455 (1000Genomes)
HGVS:: NC_000023.11:g.68389669_68389670del, NC_000023.11:g.68389670del, NC_000023.11:g.68389670dup, NC_000023.11:g.68389669_68389670dup, NC_000023.11:g.68389668_68389670dup, NC_000023.11:g.68389667_68389670dup, NC_000023.11:g.68389666_68389670dup, NC_000023.11:g.68389665_68389670dup, NC_000023.10:g.67609511_67609512del, NC_000023.10:g.67609512del, NC_000023.10:g.67609512dup, NC_000023.10:g.67609511_67609512dup, NC_000023.10:g.67609510_67609512dup, NC_000023.10:g.67609509_67609512dup, NC_000023.10:g.67609508_67609512dup, NC_000023.10:g.67609507_67609512dup, NG_008960.1:g.48799_48800del, NG_008960.1:g.48800del, NG_008960.1:g.48800dup, NG_008960.1:g.48799_48800dup, NG_008960.1:g.48798_48800dup, NG_008960.1:g.48797_48800dup, NG_008960.1:g.48796_48800dup, NG_008960.1:g.48795_48800dup

Select item 14915588482.

rs1491558848 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: X:68180962 (GRCh38)
X:67400804 (GRCh37)
Canonical SPDI:: NC_000023.11:68180957:ATATAT:ATAT
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0.000356/5 (ALFA)
-=0.000174/46 (TOPMED)
HGVS:: NC_000023.11:g.68180958AT[2], NC_000023.10:g.67400800AT[2], NG_008960.1:g.257495AT[2]

Select item 14915542683.

rs1491554268 has merged into rs35438846 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: X:68106116 (GRCh38)
X:67325958 (GRCh37)
Canonical SPDI:: NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000023.11:68106104:AGAGAGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
AGAGAG=0.002649/10 (1000Genomes)
AG=0.05/2 (GENOME_DK)
HGVS:: NC_000023.11:g.68106106GA[5], NC_000023.11:g.68106106GA[7], NC_000023.11:g.68106106GA[8], NC_000023.11:g.68106106GA[9], NC_000023.11:g.68106106GA[11], NC_000023.11:g.68106106GA[12], NC_000023.11:g.68106106GA[13], NC_000023.11:g.68106106GA[14], NC_000023.11:g.68106106GA[15], NC_000023.10:g.67325948GA[5], NC_000023.10:g.67325948GA[7], NC_000023.10:g.67325948GA[8], NC_000023.10:g.67325948GA[9], NC_000023.10:g.67325948GA[11], NC_000023.10:g.67325948GA[12], NC_000023.10:g.67325948GA[13], NC_000023.10:g.67325948GA[14], NC_000023.10:g.67325948GA[15], NG_008960.1:g.332334CT[5], NG_008960.1:g.332334CT[7], NG_008960.1:g.332334CT[8], NG_008960.1:g.332334CT[9], NG_008960.1:g.332334CT[11], NG_008960.1:g.332334CT[12], NG_008960.1:g.332334CT[13], NG_008960.1:g.332334CT[14], NG_008960.1:g.332334CT[15]

Select item 14915487904.

rs1491548790 has merged into rs11288704 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: X:68192486 (GRCh38)
X:67412328 (GRCh37)
Canonical SPDI:: NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3971/1499 (1000Genomes)
HGVS:: NC_000023.11:g.68192486_68192488del, NC_000023.11:g.68192487_68192488del, NC_000023.11:g.68192488del, NC_000023.11:g.68192488dup, NC_000023.11:g.68192487_68192488dup, NC_000023.11:g.68192486_68192488dup, NC_000023.11:g.68192485_68192488dup, NC_000023.10:g.67412328_67412330del, NC_000023.10:g.67412329_67412330del, NC_000023.10:g.67412330del, NC_000023.10:g.67412330dup, NC_000023.10:g.67412329_67412330dup, NC_000023.10:g.67412328_67412330dup, NC_000023.10:g.67412327_67412330dup, NG_008960.1:g.245983_245985del, NG_008960.1:g.245984_245985del, NG_008960.1:g.245985del, NG_008960.1:g.245985dup, NG_008960.1:g.245984_245985dup, NG_008960.1:g.245983_245985dup, NG_008960.1:g.245982_245985dup

Select item 14915385365.

rs1491538536 has merged into rs1186524030 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:68359864 (GRCh38)
X:67579706 (GRCh37)
Canonical SPDI:: NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68359855:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.68359864_68359882del, NC_000023.11:g.68359866_68359882del, NC_000023.11:g.68359868_68359882del, NC_000023.11:g.68359869_68359882del, NC_000023.11:g.68359870_68359882del, NC_000023.11:g.68359871_68359882del, NC_000023.11:g.68359872_68359882del, NC_000023.11:g.68359873_68359882del, NC_000023.11:g.68359874_68359882del, NC_000023.11:g.68359875_68359882del, NC_000023.11:g.68359876_68359882del, NC_000023.11:g.68359877_68359882del, NC_000023.11:g.68359879_68359882del, NC_000023.11:g.68359880_68359882del, NC_000023.11:g.68359881_68359882del, NC_000023.11:g.68359882del, NC_000023.11:g.68359882dup, NC_000023.11:g.68359881_68359882dup, NC_000023.11:g.68359880_68359882dup, NC_000023.11:g.68359879_68359882dup, NC_000023.11:g.68359878_68359882dup, NC_000023.11:g.68359875_68359882dup, NC_000023.10:g.67579706_67579724del, NC_000023.10:g.67579708_67579724del, NC_000023.10:g.67579710_67579724del, NC_000023.10:g.67579711_67579724del, NC_000023.10:g.67579712_67579724del, NC_000023.10:g.67579713_67579724del, NC_000023.10:g.67579714_67579724del, NC_000023.10:g.67579715_67579724del, NC_000023.10:g.67579716_67579724del, NC_000023.10:g.67579717_67579724del, NC_000023.10:g.67579718_67579724del, NC_000023.10:g.67579719_67579724del, NC_000023.10:g.67579721_67579724del, NC_000023.10:g.67579722_67579724del, NC_000023.10:g.67579723_67579724del, NC_000023.10:g.67579724del, NC_000023.10:g.67579724dup, NC_000023.10:g.67579723_67579724dup, NC_000023.10:g.67579722_67579724dup, NC_000023.10:g.67579721_67579724dup, NC_000023.10:g.67579720_67579724dup, NC_000023.10:g.67579717_67579724dup, NG_008960.1:g.78584_78602del, NG_008960.1:g.78586_78602del, NG_008960.1:g.78588_78602del, NG_008960.1:g.78589_78602del, NG_008960.1:g.78590_78602del, NG_008960.1:g.78591_78602del, NG_008960.1:g.78592_78602del, NG_008960.1:g.78593_78602del, NG_008960.1:g.78594_78602del, NG_008960.1:g.78595_78602del, NG_008960.1:g.78596_78602del, NG_008960.1:g.78597_78602del, NG_008960.1:g.78599_78602del, NG_008960.1:g.78600_78602del, NG_008960.1:g.78601_78602del, NG_008960.1:g.78602del, NG_008960.1:g.78602dup, NG_008960.1:g.78601_78602dup, NG_008960.1:g.78600_78602dup, NG_008960.1:g.78599_78602dup, NG_008960.1:g.78598_78602dup, NG_008960.1:g.78595_78602dup

Select item 14915251156.

rs1491525115 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:68068471 (GRCh38)
X:67288314 (GRCh37)
Canonical SPDI:: NC_000023.11:68068471::G
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000023.11:g.68068471_68068472insG, NC_000023.10:g.67288313_67288314insG, NG_008960.1:g.369986_369987insC

Select item 14915224897.

rs1491522489 has merged into rs1173542561 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: X:68341983 (GRCh38)
X:67561825 (GRCh37)
Canonical SPDI:: NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68341968:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OPHN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.68341983_68341987del, NC_000023.11:g.68341984_68341987del, NC_000023.11:g.68341985_68341987del, NC_000023.11:g.68341986_68341987del, NC_000023.11:g.68341987del, NC_000023.11:g.68341987dup, NC_000023.11:g.68341986_68341987dup, NC_000023.11:g.68341985_68341987dup, NC_000023.11:g.68341984_68341987dup, NC_000023.11:g.68341983_68341987dup, NC_000023.11:g.68341982_68341987dup, NC_000023.10:g.67561825_67561829del, NC_000023.10:g.67561826_67561829del, NC_000023.10:g.67561827_67561829del, NC_000023.10:g.67561828_67561829del, NC_000023.10:g.67561829del, NC_000023.10:g.67561829dup, NC_000023.10:g.67561828_67561829dup, NC_000023.10:g.67561827_67561829dup, NC_000023.10:g.67561826_67561829dup, NC_000023.10:g.67561825_67561829dup, NC_000023.10:g.67561824_67561829dup, NG_008960.1:g.96485_96489del, NG_008960.1:g.96486_96489del, NG_008960.1:g.96487_96489del, NG_008960.1:g.96488_96489del, NG_008960.1:g.96489del, NG_008960.1:g.96489dup, NG_008960.1:g.96488_96489dup, NG_008960.1:g.96487_96489dup, NG_008960.1:g.96486_96489dup, NG_008960.1:g.96485_96489dup, NG_008960.1:g.96484_96489dup

Select item 14915173638.

rs1491517363 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:68359856 (GRCh38)
X:67579699 (GRCh37)
Canonical SPDI:: NC_000023.11:68359856::C
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00029/3 (TOMMO)
HGVS:: NC_000023.11:g.68359856_68359857insC, NC_000023.10:g.67579698_67579699insC, NG_008960.1:g.78601_78602insG

Select item 14915039929.

rs1491503992 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAA [Show Flanks]
Chromosome:: X:68075779 (GRCh38)
X:67295622 (GRCh37)
Canonical SPDI:: NC_000023.11:68075779:AAAA:AAAACAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAAACAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.68075780_68075783A[4]CAAAAA[1], NC_000023.10:g.67295622_67295625A[4]CAAAAA[1], NG_008960.1:g.362675_362678T[5]GTTTT[1], XM_017029555.2:c.*6000_*6003T[5]GTTTT[1], XM_047442145.1:c.*6000_*6003T[5]GTTTT[1]

Select item 149150159710.

rs1491501597 has merged into rs397951860 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:68182201 (GRCh38)
X:67402043 (GRCh37)
Canonical SPDI:: NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:68182188:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000053/14 (TOPMED)
-=0.000692/2 (ALSPAC)
-=0.001888/7 (TWINSUK)
-=0.166667/1 (KOREAN)
T=0.209007/789 (1000Genomes)
HGVS:: NC_000023.11:g.68182201_68182211del, NC_000023.11:g.68182202_68182211del, NC_000023.11:g.68182204_68182211del, NC_000023.11:g.68182205_68182211del, NC_000023.11:g.68182207_68182211del, NC_000023.11:g.68182208_68182211del, NC_000023.11:g.68182209_68182211del, NC_000023.11:g.68182210_68182211del, NC_000023.11:g.68182211del, NC_000023.11:g.68182211dup, NC_000023.11:g.68182210_68182211dup, NC_000023.11:g.68182209_68182211dup, NC_000023.11:g.68182208_68182211dup, NC_000023.11:g.68182207_68182211dup, NC_000023.11:g.68182206_68182211dup, NC_000023.11:g.68182205_68182211dup, NC_000023.11:g.68182204_68182211dup, NC_000023.11:g.68182203_68182211dup, NC_000023.11:g.68182201_68182211dup, NC_000023.11:g.68182198_68182211dup, NC_000023.11:g.68182195_68182211dup, NC_000023.11:g.68182193_68182211dup, NC_000023.11:g.68182192_68182211dup, NC_000023.10:g.67402043_67402053del, NC_000023.10:g.67402044_67402053del, NC_000023.10:g.67402046_67402053del, NC_000023.10:g.67402047_67402053del, NC_000023.10:g.67402049_67402053del, NC_000023.10:g.67402050_67402053del, NC_000023.10:g.67402051_67402053del, NC_000023.10:g.67402052_67402053del, NC_000023.10:g.67402053del, NC_000023.10:g.67402053dup, NC_000023.10:g.67402052_67402053dup, NC_000023.10:g.67402051_67402053dup, NC_000023.10:g.67402050_67402053dup, NC_000023.10:g.67402049_67402053dup, NC_000023.10:g.67402048_67402053dup, NC_000023.10:g.67402047_67402053dup, NC_000023.10:g.67402046_67402053dup, NC_000023.10:g.67402045_67402053dup, NC_000023.10:g.67402043_67402053dup, NC_000023.10:g.67402040_67402053dup, NC_000023.10:g.67402037_67402053dup, NC_000023.10:g.67402035_67402053dup, NC_000023.10:g.67402034_67402053dup, NG_008960.1:g.256259_256269del, NG_008960.1:g.256260_256269del, NG_008960.1:g.256262_256269del, NG_008960.1:g.256263_256269del, NG_008960.1:g.256265_256269del, NG_008960.1:g.256266_256269del, NG_008960.1:g.256267_256269del, NG_008960.1:g.256268_256269del, NG_008960.1:g.256269del, NG_008960.1:g.256269dup, NG_008960.1:g.256268_256269dup, NG_008960.1:g.256267_256269dup, NG_008960.1:g.256266_256269dup, NG_008960.1:g.256265_256269dup, NG_008960.1:g.256264_256269dup, NG_008960.1:g.256263_256269dup, NG_008960.1:g.256262_256269dup, NG_008960.1:g.256261_256269dup, NG_008960.1:g.256259_256269dup, NG_008960.1:g.256256_256269dup, NG_008960.1:g.256253_256269dup, NG_008960.1:g.256251_256269dup, NG_008960.1:g.256250_256269dup

Select item 149150025911.

rs1491500259 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: X:68278905 (GRCh38)
X:67498747 (GRCh37)
Canonical SPDI:: NC_000023.11:68278904:AT:
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.68278905_68278906del, NC_000023.10:g.67498747_67498748del, NG_008960.1:g.159552_159553del

Select item 149148989312.

rs1491489893 has merged into rs397895409 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:68053962 (GRCh38)
X:67273804 (GRCh37)
Canonical SPDI:: NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:68053948:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.68053962_68053963del, NC_000023.11:g.68053963del, NC_000023.11:g.68053963dup, NC_000023.11:g.68053962_68053963dup, NC_000023.11:g.68053961_68053963dup, NC_000023.11:g.68053960_68053963dup, NC_000023.11:g.68053959_68053963dup, NC_000023.11:g.68053963_68053964insTTTTTTTTTTTTTTTT, NC_000023.10:g.67273804_67273805del, NC_000023.10:g.67273805del, NC_000023.10:g.67273805dup, NC_000023.10:g.67273804_67273805dup, NC_000023.10:g.67273803_67273805dup, NC_000023.10:g.67273802_67273805dup, NC_000023.10:g.67273801_67273805dup, NC_000023.10:g.67273805_67273806insTTTTTTTTTTTTTTTT, NG_008960.1:g.384508_384509del, NG_008960.1:g.384509del, NG_008960.1:g.384509dup, NG_008960.1:g.384508_384509dup, NG_008960.1:g.384507_384509dup, NG_008960.1:g.384506_384509dup, NG_008960.1:g.384505_384509dup, NG_008960.1:g.384509_384510insAAAAAAAAAAAAAAAA

Select item 149147237113.

rs1491472371 has merged into rs112064734 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA [Show Flanks]
Chromosome:: X:68112094 (GRCh38)
X:67331936 (GRCh37)
Canonical SPDI:: NC_000023.11:68112088:AGAGAGAGA:AGAGA,NC_000023.11:68112088:AGAGAGAGA:AGAGAGA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
-=0.00352/321 (GnomAD)
-=0.2198/635 (ALSPAC)
HGVS:: NC_000023.11:g.68112090GA[2], NC_000023.11:g.68112090GA[3], NC_000023.10:g.67331932GA[2], NC_000023.10:g.67331932GA[3], NG_008960.1:g.326362CT[2], NG_008960.1:g.326362CT[3]

Select item 149146825514.

rs1491468255 has merged into rs570989143 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:68294484 (GRCh38)
X:67514326 (GRCh37)
Canonical SPDI:: NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68294473:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.68294484_68294502del, NC_000023.11:g.68294486_68294502del, NC_000023.11:g.68294487_68294502del, NC_000023.11:g.68294488_68294502del, NC_000023.11:g.68294489_68294502del, NC_000023.11:g.68294490_68294502del, NC_000023.11:g.68294491_68294502del, NC_000023.11:g.68294492_68294502del, NC_000023.11:g.68294493_68294502del, NC_000023.11:g.68294494_68294502del, NC_000023.11:g.68294495_68294502del, NC_000023.11:g.68294496_68294502del, NC_000023.11:g.68294497_68294502del, NC_000023.11:g.68294498_68294502del, NC_000023.11:g.68294499_68294502del, NC_000023.11:g.68294500_68294502del, NC_000023.11:g.68294501_68294502del, NC_000023.11:g.68294502del, NC_000023.11:g.68294502dup, NC_000023.11:g.68294501_68294502dup, NC_000023.11:g.68294500_68294502dup, NC_000023.11:g.68294499_68294502dup, NC_000023.11:g.68294498_68294502dup, NC_000023.11:g.68294497_68294502dup, NC_000023.11:g.68294496_68294502dup, NC_000023.11:g.68294495_68294502dup, NC_000023.11:g.68294494_68294502dup, NC_000023.11:g.68294492_68294502dup, NC_000023.11:g.68294502_68294503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.67514326_67514344del, NC_000023.10:g.67514328_67514344del, NC_000023.10:g.67514329_67514344del, NC_000023.10:g.67514330_67514344del, NC_000023.10:g.67514331_67514344del, NC_000023.10:g.67514332_67514344del, NC_000023.10:g.67514333_67514344del, NC_000023.10:g.67514334_67514344del, NC_000023.10:g.67514335_67514344del, NC_000023.10:g.67514336_67514344del, NC_000023.10:g.67514337_67514344del, NC_000023.10:g.67514338_67514344del, NC_000023.10:g.67514339_67514344del, NC_000023.10:g.67514340_67514344del, NC_000023.10:g.67514341_67514344del, NC_000023.10:g.67514342_67514344del, NC_000023.10:g.67514343_67514344del, NC_000023.10:g.67514344del, NC_000023.10:g.67514344dup, NC_000023.10:g.67514343_67514344dup, NC_000023.10:g.67514342_67514344dup, NC_000023.10:g.67514341_67514344dup, NC_000023.10:g.67514340_67514344dup, NC_000023.10:g.67514339_67514344dup, NC_000023.10:g.67514338_67514344dup, NC_000023.10:g.67514337_67514344dup, NC_000023.10:g.67514336_67514344dup, NC_000023.10:g.67514334_67514344dup, NC_000023.10:g.67514344_67514345insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008960.1:g.143966_143984del, NG_008960.1:g.143968_143984del, NG_008960.1:g.143969_143984del, NG_008960.1:g.143970_143984del, NG_008960.1:g.143971_143984del, NG_008960.1:g.143972_143984del, NG_008960.1:g.143973_143984del, NG_008960.1:g.143974_143984del, NG_008960.1:g.143975_143984del, NG_008960.1:g.143976_143984del, NG_008960.1:g.143977_143984del, NG_008960.1:g.143978_143984del, NG_008960.1:g.143979_143984del, NG_008960.1:g.143980_143984del, NG_008960.1:g.143981_143984del, NG_008960.1:g.143982_143984del, NG_008960.1:g.143983_143984del, NG_008960.1:g.143984del, NG_008960.1:g.143984dup, NG_008960.1:g.143983_143984dup, NG_008960.1:g.143982_143984dup, NG_008960.1:g.143981_143984dup, NG_008960.1:g.143980_143984dup, NG_008960.1:g.143979_143984dup, NG_008960.1:g.143978_143984dup, NG_008960.1:g.143977_143984dup, NG_008960.1:g.143976_143984dup, NG_008960.1:g.143974_143984dup, NG_008960.1:g.143984_143985insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149146296415.

rs1491462964 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:68341969 (GRCh38)
X:67561812 (GRCh37)
Canonical SPDI:: NC_000023.11:68341969::G
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00003/2 (GnomAD)
HGVS:: NC_000023.11:g.68341969_68341970insG, NC_000023.10:g.67561811_67561812insG, NG_008960.1:g.96488_96489insC

Select item 149145823116.

rs1491458231 has merged into rs59589210 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: X:68278913 (GRCh38)
X:67498755 (GRCh37)
Canonical SPDI:: NC_000023.11:68278905:TTTTTTTTT:TTTTTTT,NC_000023.11:68278905:TTTTTTTTT:TTTTTTTT,NC_000023.11:68278905:TTTTTTTTT:TTTTTTTTTT
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000128/34 (TOPMED)
-=0.000405/5 (TOMMO)
HGVS:: NC_000023.11:g.68278913_68278914del, NC_000023.11:g.68278914del, NC_000023.11:g.68278914dup, NC_000023.10:g.67498755_67498756del, NC_000023.10:g.67498756del, NC_000023.10:g.67498756dup, NG_008960.1:g.159551_159552del, NG_008960.1:g.159552del, NG_008960.1:g.159552dup

Select item 149145474717.

rs1491454747 has merged into rs11288704 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: X:68192486 (GRCh38)
X:67412328 (GRCh37)
Canonical SPDI:: NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:68192472:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3971/1499 (1000Genomes)
HGVS:: NC_000023.11:g.68192486_68192488del, NC_000023.11:g.68192487_68192488del, NC_000023.11:g.68192488del, NC_000023.11:g.68192488dup, NC_000023.11:g.68192487_68192488dup, NC_000023.11:g.68192486_68192488dup, NC_000023.11:g.68192485_68192488dup, NC_000023.10:g.67412328_67412330del, NC_000023.10:g.67412329_67412330del, NC_000023.10:g.67412330del, NC_000023.10:g.67412330dup, NC_000023.10:g.67412329_67412330dup, NC_000023.10:g.67412328_67412330dup, NC_000023.10:g.67412327_67412330dup, NG_008960.1:g.245983_245985del, NG_008960.1:g.245984_245985del, NG_008960.1:g.245985del, NG_008960.1:g.245985dup, NG_008960.1:g.245984_245985dup, NG_008960.1:g.245983_245985dup, NG_008960.1:g.245982_245985dup

Select item 149145253118.

rs1491452531 has merged into rs56927719 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:68301455 (GRCh38)
X:67521297 (GRCh37)
Canonical SPDI:: NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:68301445:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.68301455_68301467del, NC_000023.11:g.68301456_68301467del, NC_000023.11:g.68301457_68301467del, NC_000023.11:g.68301458_68301467del, NC_000023.11:g.68301459_68301467del, NC_000023.11:g.68301461_68301467del, NC_000023.11:g.68301462_68301467del, NC_000023.11:g.68301463_68301467del, NC_000023.11:g.68301464_68301467del, NC_000023.11:g.68301465_68301467del, NC_000023.11:g.68301466_68301467del, NC_000023.11:g.68301467del, NC_000023.11:g.68301467dup, NC_000023.11:g.68301466_68301467dup, NC_000023.11:g.68301465_68301467dup, NC_000023.11:g.68301464_68301467dup, NC_000023.11:g.68301463_68301467dup, NC_000023.11:g.68301462_68301467dup, NC_000023.11:g.68301461_68301467dup, NC_000023.11:g.68301460_68301467dup, NC_000023.10:g.67521297_67521309del, NC_000023.10:g.67521298_67521309del, NC_000023.10:g.67521299_67521309del, NC_000023.10:g.67521300_67521309del, NC_000023.10:g.67521301_67521309del, NC_000023.10:g.67521303_67521309del, NC_000023.10:g.67521304_67521309del, NC_000023.10:g.67521305_67521309del, NC_000023.10:g.67521306_67521309del, NC_000023.10:g.67521307_67521309del, NC_000023.10:g.67521308_67521309del, NC_000023.10:g.67521309del, NC_000023.10:g.67521309dup, NC_000023.10:g.67521308_67521309dup, NC_000023.10:g.67521307_67521309dup, NC_000023.10:g.67521306_67521309dup, NC_000023.10:g.67521305_67521309dup, NC_000023.10:g.67521304_67521309dup, NC_000023.10:g.67521303_67521309dup, NC_000023.10:g.67521302_67521309dup, NG_008960.1:g.137000_137012del, NG_008960.1:g.137001_137012del, NG_008960.1:g.137002_137012del, NG_008960.1:g.137003_137012del, NG_008960.1:g.137004_137012del, NG_008960.1:g.137006_137012del, NG_008960.1:g.137007_137012del, NG_008960.1:g.137008_137012del, NG_008960.1:g.137009_137012del, NG_008960.1:g.137010_137012del, NG_008960.1:g.137011_137012del, NG_008960.1:g.137012del, NG_008960.1:g.137012dup, NG_008960.1:g.137011_137012dup, NG_008960.1:g.137010_137012dup, NG_008960.1:g.137009_137012dup, NG_008960.1:g.137008_137012dup, NG_008960.1:g.137007_137012dup, NG_008960.1:g.137006_137012dup, NG_008960.1:g.137005_137012dup

Select item 149138157319.

rs1491381573 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: X:68426580 (GRCh38)
X:67646422 (GRCh37)
Canonical SPDI:: NC_000023.11:68426577:AGAG:AG
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.68426578AG[1], NC_000023.10:g.67646420AG[1], NG_008960.1:g.11877CT[1]

Select item 149137742320.

rs1491377423 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:68301468 (GRCh38)
X:67521310 (GRCh37)
Canonical SPDI:: NC_000023.11:68301466:AGA:A
Gene:: OPHN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.68301468_68301469del, NC_000023.10:g.67521310_67521311del, NG_008960.1:g.136990_136991del

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