SNP Links for Gene (Select 55906) - SNP

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Select item 14915610471.

rs1491561047 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:64928676 (GRCh38)
X:64148556 (GRCh37)
Canonical SPDI:: NC_000023.11:64928675:TT:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00011/11 (GnomAD)
HGVS:: NC_000023.11:g.64928676_64928677del, NC_000023.10:g.64148556_64148557del, NG_021200.2:g.111068_111069del

Select item 14915175202.

rs1491517520 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:64928639 (GRCh38)
X:64148519 (GRCh37)
Canonical SPDI:: NC_000023.11:64928637:TCT:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.64928639_64928640del, NC_000023.10:g.64148519_64148520del, NG_021200.2:g.111106_111107del

Select item 14915127863.

rs1491512786 has merged into rs10606871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:65012235 (GRCh38)
X:64232115 (GRCh37)
Canonical SPDI:: NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:65012224:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.65012235_65012246del, NC_000023.11:g.65012240_65012246del, NC_000023.11:g.65012242_65012246del, NC_000023.11:g.65012243_65012246del, NC_000023.11:g.65012244_65012246del, NC_000023.11:g.65012245_65012246del, NC_000023.11:g.65012246del, NC_000023.11:g.65012246dup, NC_000023.11:g.65012245_65012246dup, NC_000023.11:g.65012244_65012246dup, NC_000023.11:g.65012243_65012246dup, NC_000023.11:g.65012242_65012246dup, NC_000023.11:g.65012241_65012246dup, NC_000023.11:g.65012240_65012246dup, NC_000023.11:g.65012239_65012246dup, NC_000023.11:g.65012238_65012246dup, NC_000023.11:g.65012237_65012246dup, NC_000023.11:g.65012236_65012246dup, NC_000023.11:g.65012235_65012246dup, NC_000023.11:g.65012234_65012246dup, NC_000023.11:g.65012233_65012246dup, NC_000023.11:g.65012232_65012246dup, NC_000023.11:g.65012231_65012246dup, NC_000023.11:g.65012230_65012246dup, NC_000023.11:g.65012229_65012246dup, NC_000023.11:g.65012227_65012246dup, NC_000023.11:g.65012226_65012246dup, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012246_65012247insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.11:g.65012225_65012246A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000023.10:g.64232115_64232126del, NC_000023.10:g.64232120_64232126del, NC_000023.10:g.64232122_64232126del, NC_000023.10:g.64232123_64232126del, NC_000023.10:g.64232124_64232126del, NC_000023.10:g.64232125_64232126del, NC_000023.10:g.64232126del, NC_000023.10:g.64232126dup, NC_000023.10:g.64232125_64232126dup, NC_000023.10:g.64232124_64232126dup, NC_000023.10:g.64232123_64232126dup, NC_000023.10:g.64232122_64232126dup, NC_000023.10:g.64232121_64232126dup, NC_000023.10:g.64232120_64232126dup, NC_000023.10:g.64232119_64232126dup, NC_000023.10:g.64232118_64232126dup, NC_000023.10:g.64232117_64232126dup, NC_000023.10:g.64232116_64232126dup, NC_000023.10:g.64232115_64232126dup, NC_000023.10:g.64232114_64232126dup, NC_000023.10:g.64232113_64232126dup, NC_000023.10:g.64232112_64232126dup, NC_000023.10:g.64232111_64232126dup, NC_000023.10:g.64232110_64232126dup, NC_000023.10:g.64232109_64232126dup, NC_000023.10:g.64232107_64232126dup, NC_000023.10:g.64232106_64232126dup, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232126_64232127insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000023.10:g.64232105_64232126A[30]GAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_021200.2:g.27509_27520del, NG_021200.2:g.27514_27520del, NG_021200.2:g.27516_27520del, NG_021200.2:g.27517_27520del, NG_021200.2:g.27518_27520del, NG_021200.2:g.27519_27520del, NG_021200.2:g.27520del, NG_021200.2:g.27520dup, NG_021200.2:g.27519_27520dup, NG_021200.2:g.27518_27520dup, NG_021200.2:g.27517_27520dup, NG_021200.2:g.27516_27520dup, NG_021200.2:g.27515_27520dup, NG_021200.2:g.27514_27520dup, NG_021200.2:g.27513_27520dup, NG_021200.2:g.27512_27520dup, NG_021200.2:g.27511_27520dup, NG_021200.2:g.27510_27520dup, NG_021200.2:g.27509_27520dup, NG_021200.2:g.27508_27520dup, NG_021200.2:g.27507_27520dup, NG_021200.2:g.27506_27520dup, NG_021200.2:g.27505_27520dup, NG_021200.2:g.27504_27520dup, NG_021200.2:g.27503_27520dup, NG_021200.2:g.27501_27520dup, NG_021200.2:g.27500_27520dup, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27520_27521insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.27499_27520T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915123234.

rs1491512323 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: X:64935301 (GRCh38)
X:64155182 (GRCh37)
Canonical SPDI:: NC_000023.11:64935301:AAAAAAA:AAAAAAAA
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
A=0.00011/29 (TOPMED)
A=0.000144/15 (GnomAD)
A=0.000208/1 (1000Genomes)
HGVS:: NC_000023.11:g.64935308dup, NC_000023.10:g.64155188dup, NG_021200.2:g.104443dup

Select item 14914942445.

rs1491494244 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: X:64999040 (GRCh38)
X:64218921 (GRCh37)
Canonical SPDI:: NC_000023.11:64999040::G
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00015/2 (GnomAD)
HGVS:: NC_000023.11:g.64999040_64999041insG, NC_000023.10:g.64218920_64218921insG, NG_021200.2:g.40704_40705insC

Select item 14914754706.

rs1491475470 has merged into rs58569761 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:64974987 (GRCh38)
X:64194867 (GRCh37)
Canonical SPDI:: NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:64974973:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.06093/230 (1000Genomes)
HGVS:: NC_000023.11:g.64974987_64974999del, NC_000023.11:g.64974988_64974999del, NC_000023.11:g.64974989_64974999del, NC_000023.11:g.64974990_64974999del, NC_000023.11:g.64974991_64974999del, NC_000023.11:g.64974992_64974999del, NC_000023.11:g.64974993_64974999del, NC_000023.11:g.64974994_64974999del, NC_000023.11:g.64974995_64974999del, NC_000023.11:g.64974996_64974999del, NC_000023.11:g.64974997_64974999del, NC_000023.11:g.64974998_64974999del, NC_000023.11:g.64974999del, NC_000023.11:g.64974999dup, NC_000023.11:g.64974998_64974999dup, NC_000023.11:g.64974997_64974999dup, NC_000023.11:g.64974995_64974999dup, NC_000023.11:g.64974994_64974999dup, NC_000023.10:g.64194867_64194879del, NC_000023.10:g.64194868_64194879del, NC_000023.10:g.64194869_64194879del, NC_000023.10:g.64194870_64194879del, NC_000023.10:g.64194871_64194879del, NC_000023.10:g.64194872_64194879del, NC_000023.10:g.64194873_64194879del, NC_000023.10:g.64194874_64194879del, NC_000023.10:g.64194875_64194879del, NC_000023.10:g.64194876_64194879del, NC_000023.10:g.64194877_64194879del, NC_000023.10:g.64194878_64194879del, NC_000023.10:g.64194879del, NC_000023.10:g.64194879dup, NC_000023.10:g.64194878_64194879dup, NC_000023.10:g.64194877_64194879dup, NC_000023.10:g.64194875_64194879dup, NC_000023.10:g.64194874_64194879dup, NG_021200.2:g.64759_64771del, NG_021200.2:g.64760_64771del, NG_021200.2:g.64761_64771del, NG_021200.2:g.64762_64771del, NG_021200.2:g.64763_64771del, NG_021200.2:g.64764_64771del, NG_021200.2:g.64765_64771del, NG_021200.2:g.64766_64771del, NG_021200.2:g.64767_64771del, NG_021200.2:g.64768_64771del, NG_021200.2:g.64769_64771del, NG_021200.2:g.64770_64771del, NG_021200.2:g.64771del, NG_021200.2:g.64771dup, NG_021200.2:g.64770_64771dup, NG_021200.2:g.64769_64771dup, NG_021200.2:g.64767_64771dup, NG_021200.2:g.64766_64771dup

Select item 14914193627.

rs1491419362 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:65012224 (GRCh38)
X:64232104 (GRCh37)
Canonical SPDI:: NC_000023.11:65012223:CA:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.65012224_65012225del, NC_000023.10:g.64232104_64232105del, NG_021200.2:g.27520_27521del

Select item 14914169968.

rs1491416996 has merged into rs58094683 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:64999053 (GRCh38)
X:64218933 (GRCh37)
Canonical SPDI:: NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:64999039:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.64999053_64999068del, NC_000023.11:g.64999055_64999068del, NC_000023.11:g.64999056_64999068del, NC_000023.11:g.64999057_64999068del, NC_000023.11:g.64999058_64999068del, NC_000023.11:g.64999059_64999068del, NC_000023.11:g.64999060_64999068del, NC_000023.11:g.64999061_64999068del, NC_000023.11:g.64999062_64999068del, NC_000023.11:g.64999063_64999068del, NC_000023.11:g.64999064_64999068del, NC_000023.11:g.64999065_64999068del, NC_000023.11:g.64999066_64999068del, NC_000023.11:g.64999067_64999068del, NC_000023.11:g.64999068del, NC_000023.11:g.64999068dup, NC_000023.11:g.64999040_64999068T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.11:g.64999067_64999068dup, NC_000023.11:g.64999040_64999068T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.11:g.64999066_64999068dup, NC_000023.11:g.64999065_64999068dup, NC_000023.11:g.64999064_64999068dup, NC_000023.11:g.64999063_64999068dup, NC_000023.11:g.64999062_64999068dup, NC_000023.11:g.64999061_64999068dup, NC_000023.11:g.64999060_64999068dup, NC_000023.11:g.64999059_64999068dup, NC_000023.11:g.64999058_64999068dup, NC_000023.11:g.64999057_64999068dup, NC_000023.11:g.64999040_64999068T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.11:g.64999056_64999068dup, NC_000023.11:g.64999055_64999068dup, NC_000023.11:g.64999054_64999068dup, NC_000023.11:g.64999053_64999068dup, NC_000023.11:g.64999052_64999068dup, NC_000023.11:g.64999048_64999068dup, NC_000023.11:g.64999068_64999069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.64999068_64999069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.64999068_64999069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.64999068_64999069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.64999068_64999069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.64999068_64999069insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.64218933_64218948del, NC_000023.10:g.64218935_64218948del, NC_000023.10:g.64218936_64218948del, NC_000023.10:g.64218937_64218948del, NC_000023.10:g.64218938_64218948del, NC_000023.10:g.64218939_64218948del, NC_000023.10:g.64218940_64218948del, NC_000023.10:g.64218941_64218948del, NC_000023.10:g.64218942_64218948del, NC_000023.10:g.64218943_64218948del, NC_000023.10:g.64218944_64218948del, NC_000023.10:g.64218945_64218948del, NC_000023.10:g.64218946_64218948del, NC_000023.10:g.64218947_64218948del, NC_000023.10:g.64218948del, NC_000023.10:g.64218948dup, NC_000023.10:g.64218920_64218948T[30]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.10:g.64218947_64218948dup, NC_000023.10:g.64218920_64218948T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.10:g.64218946_64218948dup, NC_000023.10:g.64218945_64218948dup, NC_000023.10:g.64218944_64218948dup, NC_000023.10:g.64218943_64218948dup, NC_000023.10:g.64218942_64218948dup, NC_000023.10:g.64218941_64218948dup, NC_000023.10:g.64218940_64218948dup, NC_000023.10:g.64218939_64218948dup, NC_000023.10:g.64218938_64218948dup, NC_000023.10:g.64218937_64218948dup, NC_000023.10:g.64218920_64218948T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000023.10:g.64218936_64218948dup, NC_000023.10:g.64218935_64218948dup, NC_000023.10:g.64218934_64218948dup, NC_000023.10:g.64218933_64218948dup, NC_000023.10:g.64218932_64218948dup, NC_000023.10:g.64218928_64218948dup, NC_000023.10:g.64218948_64218949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.64218948_64218949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.64218948_64218949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.64218948_64218949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.64218948_64218949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.64218948_64218949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021200.2:g.40690_40705del, NG_021200.2:g.40692_40705del, NG_021200.2:g.40693_40705del, NG_021200.2:g.40694_40705del, NG_021200.2:g.40695_40705del, NG_021200.2:g.40696_40705del, NG_021200.2:g.40697_40705del, NG_021200.2:g.40698_40705del, NG_021200.2:g.40699_40705del, NG_021200.2:g.40700_40705del, NG_021200.2:g.40701_40705del, NG_021200.2:g.40702_40705del, NG_021200.2:g.40703_40705del, NG_021200.2:g.40704_40705del, NG_021200.2:g.40705del, NG_021200.2:g.40705dup, NG_021200.2:g.40677_40705A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_021200.2:g.40704_40705dup, NG_021200.2:g.40677_40705A[32]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_021200.2:g.40703_40705dup, NG_021200.2:g.40702_40705dup, NG_021200.2:g.40701_40705dup, NG_021200.2:g.40700_40705dup, NG_021200.2:g.40699_40705dup, NG_021200.2:g.40698_40705dup, NG_021200.2:g.40697_40705dup, NG_021200.2:g.40696_40705dup, NG_021200.2:g.40695_40705dup, NG_021200.2:g.40694_40705dup, NG_021200.2:g.40677_40705A[50]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_021200.2:g.40693_40705dup, NG_021200.2:g.40692_40705dup, NG_021200.2:g.40691_40705dup, NG_021200.2:g.40690_40705dup, NG_021200.2:g.40689_40705dup, NG_021200.2:g.40685_40705dup, NG_021200.2:g.40705_40706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021200.2:g.40705_40706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021200.2:g.40705_40706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021200.2:g.40705_40706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021200.2:g.40705_40706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_021200.2:g.40705_40706insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913914319.

rs1491391431 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:64974973 (GRCh38)
X:64194853 (GRCh37)
Canonical SPDI:: NC_000023.11:64974972:CA:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
-=0.00007/4 (GnomAD)
HGVS:: NC_000023.11:g.64974973_64974974del, NC_000023.10:g.64194853_64194854del, NG_021200.2:g.64771_64772del

Select item 149134690310.

rs1491346903 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: X:64935301 (GRCh38)
X:64155181 (GRCh37)
Canonical SPDI:: NC_000023.11:64935300:GA:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000214/3 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.64935301_64935302del, NC_000023.10:g.64155181_64155182del, NG_021200.2:g.104443_104444del

Select item 149121761011.

rs1491217610 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTCTTCCTCTTCTTC,TTCTTCTTCCTCTTCTTC [Show Flanks]
Chromosome:: X:64928676 (GRCh38)
X:64148557 (GRCh37)
Canonical SPDI:: NC_000023.11:64928676:TCTTCTTC:TCTTCTTCTTCTTCCTCTTCTTC,NC_000023.11:64928676:TCTTCTTC:TCTTCTTCTTCTTCTTCCTCTTCTTC
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCTTCTTCTTCTTCCTCTTCTTC=0./0 (ALFA)
HGVS:: NC_000023.11:g.64928677_64928684TCT[4]TCCTCTTCTTC[1], NC_000023.11:g.64928677_64928684TCT[5]TCCTCTTCTTC[1], NC_000023.10:g.64148557_64148564TCT[4]TCCTCTTCTTC[1], NC_000023.10:g.64148557_64148564TCT[5]TCCTCTTCTTC[1], NG_021200.2:g.111061_111068GAA[2]GAGGAAGAAGAAGAAGA[1], NG_021200.2:g.111061_111068GAA[2]GAGGAAGAAGAAGAAGAAGA[1]

Select item 149119406812.

rs1491194068 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:64965948 (GRCh38)
X:64185829 (GRCh37)
Canonical SPDI:: NC_000023.11:64965948::A,NC_000023.11:64965948::AA,NC_000023.11:64965948::AAAAAAAAAAAAAAAA
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0.00007/1 (ALFA)
A=0.00112/13 (TOMMO)
HGVS:: NC_000023.11:g.64965948_64965949insA, NC_000023.11:g.64965948_64965949insAA, NC_000023.11:g.64965948_64965949insAAAAAAAAAAAAAAAA, NC_000023.10:g.64185828_64185829insA, NC_000023.10:g.64185828_64185829insAA, NC_000023.10:g.64185828_64185829insAAAAAAAAAAAAAAAA, NG_021200.2:g.73796_73797insT, NG_021200.2:g.73796_73797insTT, NG_021200.2:g.73796_73797insTTTTTTTTTTTTTTTT

Select item 149118507413.

rs1491185074 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: X:64965948 (GRCh38)
X:64185828 (GRCh37)
Canonical SPDI:: NC_000023.11:64965947:GC:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00065/8 (TOMMO)
-=0.00066/42 (GnomAD)
HGVS:: NC_000023.11:g.64965948_64965949del, NC_000023.10:g.64185828_64185829del, NG_021200.2:g.73796_73797del

Select item 149116994514.

rs1491169945 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:64999068 (GRCh38)
X:64218948 (GRCh37)
Canonical SPDI:: NC_000023.11:64999067:TA:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00026/4 (ALFA)
-=0.00017/15 (GnomAD)
-=0.00041/5 (TOMMO)
HGVS:: NC_000023.11:g.64999068_64999069del, NC_000023.10:g.64218948_64218949del, NG_021200.2:g.40676_40677del

Select item 149110713215.

rs1491107132 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: X:64954356 (GRCh38)
X:64174236 (GRCh37)
Canonical SPDI:: NC_000023.11:64954355:TT:
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00091/56 (GnomAD)
HGVS:: NC_000023.11:g.64954356_64954357del, NC_000023.10:g.64174236_64174237del, NG_021200.2:g.85388_85389del

Select item 149098885916.

rs1490988859 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64928336 (GRCh38)
X:64148216 (GRCh37)
Canonical SPDI:: NC_000023.11:64928335:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000187/2 (ALFA)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.64928336C>T, NC_000023.10:g.64148216C>T, NG_021200.2:g.111409G>A

Select item 149094719717.

rs1490947197 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:64999762 (GRCh38)
X:64219642 (GRCh37)
Canonical SPDI:: NC_000023.11:64999761:C:T
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64999762C>T, NC_000023.10:g.64219642C>T, NG_021200.2:g.39983G>A

Select item 149091953718.

rs1490919537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:64921923 (GRCh38)
X:64141803 (GRCh37)
Canonical SPDI:: NC_000023.11:64921922:G:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.64921923G>A, NC_000023.10:g.64141803G>A, NG_021200.2:g.117822C>T, NM_018684.4:c.119C>T, NM_018684.3:c.119C>T, NM_001178032.3:c.50C>T, NM_001178032.2:c.50C>T, NM_001178033.3:c.119C>T, NM_001178033.2:c.119C>T, NR_045044.2:n.447C>T, NR_045044.1:n.530C>T, NM_001243804.2:c.50C>T, NM_001243804.1:c.50C>T, NP_061154.1:p.Ser40Leu, NP_001171503.1:p.Ser17Leu, NP_001171504.1:p.Ser40Leu, NP_001230733.1:p.Ser17Leu

Select item 149089865219.

rs1490898652 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: X:64994815 (GRCh38)
X:64214695 (GRCh37)
Canonical SPDI:: NC_000023.11:64994810:CTTCTTC:CTTC
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTTC=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.64994812TTC[1], NC_000023.10:g.64214692TTC[1], NG_021200.2:g.44929AAG[1]

Select item 149085588520.

rs1490855885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:65000884 (GRCh38)
X:64220764 (GRCh37)
Canonical SPDI:: NC_000023.11:65000883:G:A
Gene:: ZC4H2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.65000884G>A, NC_000023.10:g.64220764G>A, NG_021200.2:g.38861C>T

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