SNP Links for Gene (Select 4281) - SNP

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Select item 14915837441.

rs1491583744 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: X:10730587 (GRCh38)
X:10698628 (GRCh37)
Canonical SPDI:: NC_000023.11:10730587:C:CC
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000023.11:g.10730588dup, NC_000023.10:g.10698628dup, NG_008197.2:g.108103dup

Select item 14915789862.

rs1491578986 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: X:10820639 (GRCh38)
X:10838758 (GRCh37)
Canonical SPDI:: NC_000023.11:10820637:ATA:A
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0107/31 (ALSPAC)
-=0.0127/47 (TWINSUK)
HGVS:: NC_000023.11:g.10820639_10820640del, NC_000023.10:g.10838758_10838759del, NG_008197.2:g.18052_18053del

Select item 14915781623.

rs1491578162 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:10521874 (GRCh38)
X:10489914 (GRCh37)
Canonical SPDI:: NC_000023.11:10521871:CTCT:CT
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
HGVS:: NC_000023.11:g.10521872CT[1], NC_000023.10:g.10489912CT[1], NG_008197.2:g.316816AG[1]

Select item 14915683594.

rs1491568359 has merged into rs144661774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:10592287 (GRCh38)
X:10560327 (GRCh37)
Canonical SPDI:: NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:10592274:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MID1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.15/6 (GENOME_DK)
HGVS:: NC_000023.11:g.10592287_10592303del, NC_000023.11:g.10592288_10592303del, NC_000023.11:g.10592289_10592303del, NC_000023.11:g.10592290_10592303del, NC_000023.11:g.10592291_10592303del, NC_000023.11:g.10592292_10592303del, NC_000023.11:g.10592294_10592303del, NC_000023.11:g.10592295_10592303del, NC_000023.11:g.10592296_10592303del, NC_000023.11:g.10592297_10592303del, NC_000023.11:g.10592298_10592303del, NC_000023.11:g.10592299_10592303del, NC_000023.11:g.10592300_10592303del, NC_000023.11:g.10592301_10592303del, NC_000023.11:g.10592302_10592303del, NC_000023.11:g.10592303del, NC_000023.11:g.10592303dup, NC_000023.11:g.10592302_10592303dup, NC_000023.11:g.10592301_10592303dup, NC_000023.11:g.10592300_10592303dup, NC_000023.11:g.10592299_10592303dup, NC_000023.11:g.10592298_10592303dup, NC_000023.11:g.10592297_10592303dup, NC_000023.11:g.10592296_10592303dup, NC_000023.11:g.10592295_10592303dup, NC_000023.10:g.10560327_10560343del, NC_000023.10:g.10560328_10560343del, NC_000023.10:g.10560329_10560343del, NC_000023.10:g.10560330_10560343del, NC_000023.10:g.10560331_10560343del, NC_000023.10:g.10560332_10560343del, NC_000023.10:g.10560334_10560343del, NC_000023.10:g.10560335_10560343del, NC_000023.10:g.10560336_10560343del, NC_000023.10:g.10560337_10560343del, NC_000023.10:g.10560338_10560343del, NC_000023.10:g.10560339_10560343del, NC_000023.10:g.10560340_10560343del, NC_000023.10:g.10560341_10560343del, NC_000023.10:g.10560342_10560343del, NC_000023.10:g.10560343del, NC_000023.10:g.10560343dup, NC_000023.10:g.10560342_10560343dup, NC_000023.10:g.10560341_10560343dup, NC_000023.10:g.10560340_10560343dup, NC_000023.10:g.10560339_10560343dup, NC_000023.10:g.10560338_10560343dup, NC_000023.10:g.10560337_10560343dup, NC_000023.10:g.10560336_10560343dup, NC_000023.10:g.10560335_10560343dup, NG_008197.2:g.246400_246416del, NG_008197.2:g.246401_246416del, NG_008197.2:g.246402_246416del, NG_008197.2:g.246403_246416del, NG_008197.2:g.246404_246416del, NG_008197.2:g.246405_246416del, NG_008197.2:g.246407_246416del, NG_008197.2:g.246408_246416del, NG_008197.2:g.246409_246416del, NG_008197.2:g.246410_246416del, NG_008197.2:g.246411_246416del, NG_008197.2:g.246412_246416del, NG_008197.2:g.246413_246416del, NG_008197.2:g.246414_246416del, NG_008197.2:g.246415_246416del, NG_008197.2:g.246416del, NG_008197.2:g.246416dup, NG_008197.2:g.246415_246416dup, NG_008197.2:g.246414_246416dup, NG_008197.2:g.246413_246416dup, NG_008197.2:g.246412_246416dup, NG_008197.2:g.246411_246416dup, NG_008197.2:g.246410_246416dup, NG_008197.2:g.246409_246416dup, NG_008197.2:g.246408_246416dup

Select item 14915680025.

rs1491568002 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:10562371 (GRCh38)
X:10530411 (GRCh37)
Canonical SPDI:: NC_000023.11:10562370:TA:
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.10562371_10562372del, NC_000023.10:g.10530411_10530412del, NG_008197.2:g.276319_276320del

Select item 14915667206.

rs1491566720 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: X:10636785 (GRCh38)
X:10604825 (GRCh37)
Canonical SPDI:: NC_000023.11:10636784:GA:
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00247/28 (GnomAD)
HGVS:: NC_000023.11:g.10636785_10636786del, NC_000023.10:g.10604825_10604826del, NG_008197.2:g.201905_201906del

Select item 14915535217.

rs1491553521 has merged into rs60188235 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: X:10636795 (GRCh38)
X:10604835 (GRCh37)
Canonical SPDI:: NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000023.11:10636785:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: MID1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
ATAT=0.1/4 (GENOME_DK)
HGVS:: NC_000023.11:g.10636787TA[4], NC_000023.11:g.10636787TA[5], NC_000023.11:g.10636787TA[6], NC_000023.11:g.10636787TA[7], NC_000023.11:g.10636787TA[8], NC_000023.11:g.10636787TA[9], NC_000023.11:g.10636787TA[10], NC_000023.11:g.10636787TA[11], NC_000023.11:g.10636787TA[12], NC_000023.11:g.10636787TA[13], NC_000023.11:g.10636787TA[14], NC_000023.11:g.10636787TA[15], NC_000023.11:g.10636787TA[17], NC_000023.11:g.10636787TA[18], NC_000023.11:g.10636787TA[19], NC_000023.11:g.10636787TA[20], NC_000023.11:g.10636787TA[21], NC_000023.11:g.10636787TA[22], NC_000023.11:g.10636787TA[23], NC_000023.11:g.10636787TA[24], NC_000023.11:g.10636787TA[25], NC_000023.11:g.10636787TA[26], NC_000023.11:g.10636787TA[27], NC_000023.11:g.10636787TA[28], NC_000023.11:g.10636787TA[29], NC_000023.11:g.10636787TA[30], NC_000023.11:g.10636787TA[31], NC_000023.10:g.10604827TA[4], NC_000023.10:g.10604827TA[5], NC_000023.10:g.10604827TA[6], NC_000023.10:g.10604827TA[7], NC_000023.10:g.10604827TA[8], NC_000023.10:g.10604827TA[9], NC_000023.10:g.10604827TA[10], NC_000023.10:g.10604827TA[11], NC_000023.10:g.10604827TA[12], NC_000023.10:g.10604827TA[13], NC_000023.10:g.10604827TA[14], NC_000023.10:g.10604827TA[15], NC_000023.10:g.10604827TA[17], NC_000023.10:g.10604827TA[18], NC_000023.10:g.10604827TA[19], NC_000023.10:g.10604827TA[20], NC_000023.10:g.10604827TA[21], NC_000023.10:g.10604827TA[22], NC_000023.10:g.10604827TA[23], NC_000023.10:g.10604827TA[24], NC_000023.10:g.10604827TA[25], NC_000023.10:g.10604827TA[26], NC_000023.10:g.10604827TA[27], NC_000023.10:g.10604827TA[28], NC_000023.10:g.10604827TA[29], NC_000023.10:g.10604827TA[30], NC_000023.10:g.10604827TA[31], NG_008197.2:g.201874AT[4], NG_008197.2:g.201874AT[5], NG_008197.2:g.201874AT[6], NG_008197.2:g.201874AT[7], NG_008197.2:g.201874AT[8], NG_008197.2:g.201874AT[9], NG_008197.2:g.201874AT[10], NG_008197.2:g.201874AT[11], NG_008197.2:g.201874AT[12], NG_008197.2:g.201874AT[13], NG_008197.2:g.201874AT[14], NG_008197.2:g.201874AT[15], NG_008197.2:g.201874AT[17], NG_008197.2:g.201874AT[18], NG_008197.2:g.201874AT[19], NG_008197.2:g.201874AT[20], NG_008197.2:g.201874AT[21], NG_008197.2:g.201874AT[22], NG_008197.2:g.201874AT[23], NG_008197.2:g.201874AT[24], NG_008197.2:g.201874AT[25], NG_008197.2:g.201874AT[26], NG_008197.2:g.201874AT[27], NG_008197.2:g.201874AT[28], NG_008197.2:g.201874AT[29], NG_008197.2:g.201874AT[30], NG_008197.2:g.201874AT[31]

Select item 14915382478.

rs1491538247 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:10783888 (GRCh38)
X:10802007 (GRCh37)
Canonical SPDI:: NC_000023.11:10783887:TA:
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10783888_10783889del, NC_000023.10:g.10802007_10802008del, NG_008197.2:g.54802_54803del

Select item 14915344429.

rs1491534442 has merged into rs199974083 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: X:10771119 (GRCh38)
X:10789238 (GRCh37)
Canonical SPDI:: NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:10771105:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: MID1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
HGVS:: NC_000023.11:g.10771119_10771121del, NC_000023.11:g.10771120_10771121del, NC_000023.11:g.10771121del, NC_000023.11:g.10771121dup, NC_000023.11:g.10771120_10771121dup, NC_000023.11:g.10771119_10771121dup, NC_000023.11:g.10771118_10771121dup, NC_000023.10:g.10789238_10789240del, NC_000023.10:g.10789239_10789240del, NC_000023.10:g.10789240del, NC_000023.10:g.10789240dup, NC_000023.10:g.10789239_10789240dup, NC_000023.10:g.10789238_10789240dup, NC_000023.10:g.10789237_10789240dup, NG_008197.2:g.67583_67585del, NG_008197.2:g.67584_67585del, NG_008197.2:g.67585del, NG_008197.2:g.67585dup, NG_008197.2:g.67584_67585dup, NG_008197.2:g.67583_67585dup, NG_008197.2:g.67582_67585dup

Select item 149153092810.

rs1491530928 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: X:10566512 (GRCh38)
X:10534552 (GRCh37)
Canonical SPDI:: NC_000023.11:10566510:CCC:C
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00126/15 (ALFA)
-=0.00266/107 (GnomAD)
HGVS:: NC_000023.11:g.10566512_10566513del, NC_000023.10:g.10534552_10534553del, NG_008197.2:g.272179_272180del

Select item 149151491111.

rs1491514911 has merged into rs138559299 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:10609724 (GRCh38)
X:10577764 (GRCh37)
Canonical SPDI:: NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:10609715:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MID1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.10609724_10609735del, NC_000023.11:g.10609725_10609735del, NC_000023.11:g.10609726_10609735del, NC_000023.11:g.10609727_10609735del, NC_000023.11:g.10609728_10609735del, NC_000023.11:g.10609732_10609735del, NC_000023.11:g.10609733_10609735del, NC_000023.11:g.10609734_10609735del, NC_000023.11:g.10609735del, NC_000023.11:g.10609735dup, NC_000023.11:g.10609734_10609735dup, NC_000023.11:g.10609733_10609735dup, NC_000023.11:g.10609732_10609735dup, NC_000023.11:g.10609731_10609735dup, NC_000023.11:g.10609730_10609735dup, NC_000023.11:g.10609729_10609735dup, NC_000023.11:g.10609728_10609735dup, NC_000023.11:g.10609727_10609735dup, NC_000023.11:g.10609726_10609735dup, NC_000023.11:g.10609725_10609735dup, NC_000023.11:g.10609724_10609735dup, NC_000023.11:g.10609723_10609735dup, NC_000023.11:g.10609722_10609735dup, NC_000023.11:g.10609721_10609735dup, NC_000023.11:g.10609720_10609735dup, NC_000023.11:g.10609719_10609735dup, NC_000023.11:g.10609735_10609736insTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.10609735_10609736insTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.10609735_10609736insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.10577764_10577775del, NC_000023.10:g.10577765_10577775del, NC_000023.10:g.10577766_10577775del, NC_000023.10:g.10577767_10577775del, NC_000023.10:g.10577768_10577775del, NC_000023.10:g.10577772_10577775del, NC_000023.10:g.10577773_10577775del, NC_000023.10:g.10577774_10577775del, NC_000023.10:g.10577775del, NC_000023.10:g.10577775dup, NC_000023.10:g.10577774_10577775dup, NC_000023.10:g.10577773_10577775dup, NC_000023.10:g.10577772_10577775dup, NC_000023.10:g.10577771_10577775dup, NC_000023.10:g.10577770_10577775dup, NC_000023.10:g.10577769_10577775dup, NC_000023.10:g.10577768_10577775dup, NC_000023.10:g.10577767_10577775dup, NC_000023.10:g.10577766_10577775dup, NC_000023.10:g.10577765_10577775dup, NC_000023.10:g.10577764_10577775dup, NC_000023.10:g.10577763_10577775dup, NC_000023.10:g.10577762_10577775dup, NC_000023.10:g.10577761_10577775dup, NC_000023.10:g.10577760_10577775dup, NC_000023.10:g.10577759_10577775dup, NC_000023.10:g.10577775_10577776insTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.10577775_10577776insTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.10577775_10577776insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008197.2:g.228964_228975del, NG_008197.2:g.228965_228975del, NG_008197.2:g.228966_228975del, NG_008197.2:g.228967_228975del, NG_008197.2:g.228968_228975del, NG_008197.2:g.228972_228975del, NG_008197.2:g.228973_228975del, NG_008197.2:g.228974_228975del, NG_008197.2:g.228975del, NG_008197.2:g.228975dup, NG_008197.2:g.228974_228975dup, NG_008197.2:g.228973_228975dup, NG_008197.2:g.228972_228975dup, NG_008197.2:g.228971_228975dup, NG_008197.2:g.228970_228975dup, NG_008197.2:g.228969_228975dup, NG_008197.2:g.228968_228975dup, NG_008197.2:g.228967_228975dup, NG_008197.2:g.228966_228975dup, NG_008197.2:g.228965_228975dup, NG_008197.2:g.228964_228975dup, NG_008197.2:g.228963_228975dup, NG_008197.2:g.228962_228975dup, NG_008197.2:g.228961_228975dup, NG_008197.2:g.228960_228975dup, NG_008197.2:g.228959_228975dup, NG_008197.2:g.228975_228976insAAAAAAAAAAAAAAAAAAAAAA, NG_008197.2:g.228975_228976insAAAAAAAAAAAAAAAAAAAAAAA, NG_008197.2:g.228975_228976insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149150187512.

rs1491501875 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCT [Show Flanks]
Chromosome:: X:10732864 (GRCh38)
X:10700905 (GRCh37)
Canonical SPDI:: NC_000023.11:10732864:T:TCT,NC_000023.11:10732864:T:TCTTCT
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCT=0./0 (ALFA)
TCTTC=0.000004/1 (TOPMED)
TC=0.000091/2 (TOMMO)
TC=0.015942/11 (GnomAD)
HGVS:: NC_000023.11:g.10732865_10732866insCT, NC_000023.11:g.10732865_10732866insCTTCT, NC_000023.10:g.10700905_10700906insCT, NC_000023.10:g.10700905_10700906insCTTCT, NG_008197.2:g.105826_105827insGA, NG_008197.2:g.105826_105827insGAAGA

Select item 149147542213.

rs1491475422 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: X:10844305 (GRCh38)
X:10862424 (GRCh37)
Canonical SPDI:: NC_000023.11:10844302:AGAG:AG,NC_000023.11:10844302:AGAG:AGAGAG
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAG=0./0 (ALFA)
-=0.00005/1 (TOMMO)
-=0.00042/2 (1000Genomes)
HGVS:: NC_000023.11:g.10844303AG[1], NC_000023.11:g.10844303AG[3], NC_000023.10:g.10862422AG[1], NC_000023.10:g.10862422AG[3]

Select item 149147497214.

rs1491474972 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:10693194 (GRCh38)
X:10661235 (GRCh37)
Canonical SPDI:: NC_000023.11:10693194::C
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.10693194_10693195insC, NC_000023.10:g.10661234_10661235insC, NG_008197.2:g.145496_145497insG

Select item 149146481515.

rs1491464815 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT [Show Flanks]
Chromosome:: X:10609716 (GRCh38)
X:10577757 (GRCh37)
Canonical SPDI:: NC_000023.11:10609716:TT:TTCTT,NC_000023.11:10609716:TT:TTCTTTCTT
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTTTCTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.10609718_10609719insCTT, NC_000023.11:g.10609717_10609718TTCT[2]T[1], NC_000023.10:g.10577758_10577759insCTT, NC_000023.10:g.10577757_10577758TTCT[2]T[1], NG_008197.2:g.228974_228975insGAA, NG_008197.2:g.228973_228974AAGA[2]A[1]

Select item 149145954816.

rs1491459548 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: X:10844303 (GRCh38)
X:10862423 (GRCh37)
Canonical SPDI:: NC_000023.11:10844303:G:GG
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.10844304dup, NC_000023.10:g.10862423dup

Select item 149144230917.

rs1491442309 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:10523193 (GRCh38)
X:10491233 (GRCh37)
Canonical SPDI:: NC_000023.11:10523192:CA:
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0./0 (ExAC)
HGVS:: NC_000023.11:g.10523193_10523194del, NC_000023.10:g.10491233_10491234del, NG_008197.2:g.315497_315498del

Select item 149143107318.

rs1491431073 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,AAAAA,AAAAAGAAA,AAAGAAAGAAA,AAAGGAAA,AAAGGAAAGAAA,AAAGGAAAGAAAGAAA [Show Flanks]
Chromosome:: X:10533327 (GRCh38)
X:10501368 (GRCh37)
Canonical SPDI:: NC_000023.11:10533327::A,NC_000023.11:10533327::AAA,NC_000023.11:10533327::AAAAA,NC_000023.11:10533327::AAAAAGAAA,NC_000023.11:10533327::AAAGAAAGAAA,NC_000023.11:10533327::AAAGGAAA,NC_000023.11:10533327::AAAGGAAAGAAA,NC_000023.11:10533327::AAAGGAAAGAAAGAAA
Gene:: MID1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.10533327_10533328insA, NC_000023.11:g.10533327_10533328insAAA, NC_000023.11:g.10533327_10533328insAAAAA, NC_000023.11:g.10533327_10533328insAAAAAGAAA, NC_000023.11:g.10533327_10533328insAAAGAAAGAAA, NC_000023.11:g.10533327_10533328insAAAGGAAA, NC_000023.11:g.10533327_10533328insAAAGGAAAGAAA, NC_000023.11:g.10533327_10533328insAAAGGAAAGAAAGAAA, NC_000023.10:g.10501367_10501368insA, NC_000023.10:g.10501367_10501368insAAA, NC_000023.10:g.10501367_10501368insAAAAA, NC_000023.10:g.10501367_10501368insAAAAAGAAA, NC_000023.10:g.10501367_10501368insAAAGAAAGAAA, NC_000023.10:g.10501367_10501368insAAAGGAAA, NC_000023.10:g.10501367_10501368insAAAGGAAAGAAA, NC_000023.10:g.10501367_10501368insAAAGGAAAGAAAGAAA, NG_008197.2:g.305363_305364insT, NG_008197.2:g.305363_305364insTTT, NG_008197.2:g.305363_305364insTTTTT, NG_008197.2:g.305363_305364insTTTCTTTTT, NG_008197.2:g.305363_305364insTTTCTTTCTTT, NG_008197.2:g.305363_305364insTTTCCTTT, NG_008197.2:g.305363_305364insTTTCTTTCCTTT, NG_008197.2:g.305363_305364insTTTCTTTCTTTCCTTT

Select item 149142870219.

rs1491428702 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:11102871 (GRCh38)
X:11120991 (GRCh37)
Canonical SPDI:: NC_000023.11:11102870:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000023.11:g.11102871_11102872del, NC_000023.10:g.11120991_11120992del

Select item 149142063520.

rs1491420635 has merged into rs200616808 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA [Show Flanks]
Chromosome:: X:10886717 (GRCh38)
X:10904837 (GRCh37)
Canonical SPDI:: NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000023.11:10886703:ACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACA=0./0 (ALFA)
-=0.0018/6 (1000Genomes)
AC=0.025/1 (GENOME_DK)
HGVS:: NC_000023.11:g.10886705CA[6], NC_000023.11:g.10886705CA[7], NC_000023.11:g.10886705CA[8], NC_000023.11:g.10886705CA[9], NC_000023.11:g.10886705CA[10], NC_000023.11:g.10886705CA[11], NC_000023.11:g.10886705CA[13], NC_000023.11:g.10886705CA[14], NC_000023.11:g.10886705CA[15], NC_000023.10:g.10904825CA[6], NC_000023.10:g.10904825CA[7], NC_000023.10:g.10904825CA[8], NC_000023.10:g.10904825CA[9], NC_000023.10:g.10904825CA[10], NC_000023.10:g.10904825CA[11], NC_000023.10:g.10904825CA[13], NC_000023.10:g.10904825CA[14], NC_000023.10:g.10904825CA[15]

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