SNP Links for Gene (Select 374955) - SNP

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Select item 14915873651.

rs1491587365 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:16411789 (GRCh38)
1:16738284 (GRCh37)
Canonical SPDI:: NC_000001.11:16411788:CA:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00388/46 (ALFA)
HGVS:: NC_000001.11:g.16411789_16411790del, NC_000001.10:g.16738284_16738285del, NW_025791756.1:g.215910_215911del

Select item 14915304152.

rs1491530415 has merged into rs141121121 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:16408878 (GRCh38)
1:16735373 (GRCh37)
Canonical SPDI:: NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16408869:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.16408878_16408889del, NC_000001.11:g.16408883_16408889del, NC_000001.11:g.16408884_16408889del, NC_000001.11:g.16408885_16408889del, NC_000001.11:g.16408886_16408889del, NC_000001.11:g.16408887_16408889del, NC_000001.11:g.16408888_16408889del, NC_000001.11:g.16408889del, NC_000001.11:g.16408889dup, NC_000001.11:g.16408888_16408889dup, NC_000001.11:g.16408887_16408889dup, NC_000001.10:g.16735373_16735384del, NC_000001.10:g.16735378_16735384del, NC_000001.10:g.16735379_16735384del, NC_000001.10:g.16735380_16735384del, NC_000001.10:g.16735381_16735384del, NC_000001.10:g.16735382_16735384del, NC_000001.10:g.16735383_16735384del, NC_000001.10:g.16735384del, NC_000001.10:g.16735384dup, NC_000001.10:g.16735383_16735384dup, NC_000001.10:g.16735382_16735384dup, NW_025791756.1:g.213006_213009dup, NW_025791756.1:g.213002_213009del, NW_025791756.1:g.213007_213009del, NW_025791756.1:g.213008_213009del, NW_025791756.1:g.213009del, NW_025791756.1:g.213009dup, NW_025791756.1:g.213008_213009dup, NW_025791756.1:g.213007_213009dup, NW_025791756.1:g.213005_213009dup, NW_025791756.1:g.213004_213009dup, NW_025791756.1:g.213003_213009dup

Select item 14915128693.

rs1491512869 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:16405515 (GRCh38)
1:16732010 (GRCh37)
Canonical SPDI:: NC_000001.11:16405514:AC:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.16405515_16405516del, NC_000001.10:g.16732010_16732011del, NW_025791756.1:g.209651_209652del

Select item 14914746144.

rs1491474614 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:16426254 (GRCh38)
1:16752749 (GRCh37)
Canonical SPDI:: NC_000001.11:16426253:CT:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000001.11:g.16426254_16426255del, NC_000001.10:g.16752749_16752750del, NW_025791756.1:g.230517_230518del

Select item 14914725625.

rs1491472562 has merged into rs111977798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC [Show Flanks]
Chromosome:: 1:16421337 (GRCh38)
1:16747832 (GRCh37)
Canonical SPDI:: NC_000001.11:16421327:CACACACACACAC:CACACACAC,NC_000001.11:16421327:CACACACACACAC:CACACACACAC,NC_000001.11:16421327:CACACACACACAC:CACACACACACACAC,NC_000001.11:16421327:CACACACACACAC:CACACACACACACACAC
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACAC=0./0 (ALFA)
CA=0.001/1 (GoNL)
CA=0.04772/239 (1000Genomes)
HGVS:: NC_000001.11:g.16421329AC[4], NC_000001.11:g.16421329AC[5], NC_000001.11:g.16421329AC[7], NC_000001.11:g.16421329AC[8], NC_000001.10:g.16747824AC[4], NC_000001.10:g.16747824AC[5], NC_000001.10:g.16747824AC[7], NC_000001.10:g.16747824AC[8], NW_025791756.1:g.225457AC[4], NW_025791756.1:g.225457AC[5], NW_025791756.1:g.225457AC[7], NW_025791756.1:g.225457AC[8]

Select item 14914309686.

rs1491430968 has merged into rs1170429146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:16411798 (GRCh38)
1:16738293 (GRCh37)
Canonical SPDI:: NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16411789:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPATA21 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00026/4 (TOMMO)
HGVS:: NC_000001.11:g.16411798_16411808del, NC_000001.11:g.16411804_16411808del, NC_000001.11:g.16411805_16411808del, NC_000001.11:g.16411806_16411808del, NC_000001.11:g.16411807_16411808del, NC_000001.11:g.16411808del, NC_000001.11:g.16411808dup, NC_000001.11:g.16411807_16411808dup, NC_000001.11:g.16411806_16411808dup, NC_000001.11:g.16411805_16411808dup, NC_000001.11:g.16411804_16411808dup, NC_000001.11:g.16411800_16411808dup, NC_000001.11:g.16411799_16411808dup, NC_000001.10:g.16738293_16738303del, NC_000001.10:g.16738299_16738303del, NC_000001.10:g.16738300_16738303del, NC_000001.10:g.16738301_16738303del, NC_000001.10:g.16738302_16738303del, NC_000001.10:g.16738303del, NC_000001.10:g.16738303dup, NC_000001.10:g.16738302_16738303dup, NC_000001.10:g.16738301_16738303dup, NC_000001.10:g.16738300_16738303dup, NC_000001.10:g.16738299_16738303dup, NC_000001.10:g.16738295_16738303dup, NC_000001.10:g.16738294_16738303dup, NW_025791756.1:g.215919_215929del, NW_025791756.1:g.215925_215929del, NW_025791756.1:g.215926_215929del, NW_025791756.1:g.215927_215929del, NW_025791756.1:g.215928_215929del, NW_025791756.1:g.215929del, NW_025791756.1:g.215929dup, NW_025791756.1:g.215928_215929dup, NW_025791756.1:g.215927_215929dup, NW_025791756.1:g.215926_215929dup, NW_025791756.1:g.215925_215929dup, NW_025791756.1:g.215921_215929dup, NW_025791756.1:g.215920_215929dup

Select item 14913983147.

rs1491398314 has merged into rs35240103 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTCTTCCTCTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:16432123 (GRCh38)
1:16758618 (GRCh37)
Canonical SPDI:: NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTCCTCTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16432114:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000136/36 (TOPMED)
-=0.43131/2160 (1000Genomes)
HGVS:: NC_000001.11:g.16432123_16432130del, NC_000001.11:g.16432124_16432130del, NC_000001.11:g.16432125_16432130del, NC_000001.11:g.16432126_16432130del, NC_000001.11:g.16432127_16432130del, NC_000001.11:g.16432128_16432130del, NC_000001.11:g.16432129_16432130del, NC_000001.11:g.16432130del, NC_000001.11:g.16432130dup, NC_000001.11:g.16432129_16432130dup, NC_000001.11:g.16432128_16432130dup, NC_000001.11:g.16432127_16432130dup, NC_000001.11:g.16432126_16432130dup, NC_000001.11:g.16432125_16432130dup, NC_000001.11:g.16432124_16432130dup, NC_000001.11:g.16432123_16432130dup, NC_000001.11:g.16432122_16432130dup, NC_000001.11:g.16432115_16432130T[25]CTTTTT[2]T[14], NC_000001.11:g.16432121_16432130dup, NC_000001.11:g.16432120_16432130dup, NC_000001.11:g.16432119_16432130dup, NC_000001.11:g.16432115_16432130T[28]CTTTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.16432118_16432130dup, NC_000001.11:g.16432115_16432130T[29]CTTCCTCTTTTTTTTTTTTTTTTT[1], NC_000001.11:g.16432117_16432130dup, NC_000001.11:g.16432115_16432130dup, NC_000001.11:g.16432130_16432131insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.16432130_16432131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.16432130_16432131insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16758618_16758625del, NC_000001.10:g.16758619_16758625del, NC_000001.10:g.16758620_16758625del, NC_000001.10:g.16758621_16758625del, NC_000001.10:g.16758622_16758625del, NC_000001.10:g.16758623_16758625del, NC_000001.10:g.16758624_16758625del, NC_000001.10:g.16758625del, NC_000001.10:g.16758625dup, NC_000001.10:g.16758624_16758625dup, NC_000001.10:g.16758623_16758625dup, NC_000001.10:g.16758622_16758625dup, NC_000001.10:g.16758621_16758625dup, NC_000001.10:g.16758620_16758625dup, NC_000001.10:g.16758619_16758625dup, NC_000001.10:g.16758618_16758625dup, NC_000001.10:g.16758617_16758625dup, NC_000001.10:g.16758610_16758625T[25]CTTTTT[2]T[14], NC_000001.10:g.16758616_16758625dup, NC_000001.10:g.16758615_16758625dup, NC_000001.10:g.16758614_16758625dup, NC_000001.10:g.16758610_16758625T[28]CTTTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.16758613_16758625dup, NC_000001.10:g.16758610_16758625T[29]CTTCCTCTTTTTTTTTTTTTTTTT[1], NC_000001.10:g.16758612_16758625dup, NC_000001.10:g.16758610_16758625dup, NC_000001.10:g.16758625_16758626insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16758625_16758626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16758625_16758626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791756.1:g.236386_236393del, NW_025791756.1:g.236387_236393del, NW_025791756.1:g.236388_236393del, NW_025791756.1:g.236389_236393del, NW_025791756.1:g.236390_236393del, NW_025791756.1:g.236391_236393del, NW_025791756.1:g.236392_236393del, NW_025791756.1:g.236393del, NW_025791756.1:g.236393dup, NW_025791756.1:g.236392_236393dup, NW_025791756.1:g.236391_236393dup, NW_025791756.1:g.236390_236393dup, NW_025791756.1:g.236389_236393dup, NW_025791756.1:g.236388_236393dup, NW_025791756.1:g.236387_236393dup, NW_025791756.1:g.236386_236393dup, NW_025791756.1:g.236385_236393dup, NW_025791756.1:g.236378_236393T[25]CTTTTT[2]T[14], NW_025791756.1:g.236384_236393dup, NW_025791756.1:g.236383_236393dup, NW_025791756.1:g.236382_236393dup, NW_025791756.1:g.236378_236393T[28]CTTTTTTTTTTTTTTTTTTT[1], NW_025791756.1:g.236381_236393dup, NW_025791756.1:g.236378_236393T[29]CTTCCTCTTTTTTTTTTTTTTTTT[1], NW_025791756.1:g.236380_236393dup, NW_025791756.1:g.236378_236393dup, NW_025791756.1:g.236393_236394insTTTTTTTTTTTTTTTTTTTT, NW_025791756.1:g.236393_236394insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791756.1:g.236393_236394insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913883458.

rs1491388345 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTG [Show Flanks]
Chromosome:: 1:16423560 (GRCh38)
1:16750056 (GRCh37)
Canonical SPDI:: NC_000001.11:16423560::TG,NC_000001.11:16423560::TTG
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: TG=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.16423560_16423561insTG, NC_000001.11:g.16423560_16423561insTTG, NC_000001.10:g.16750055_16750056insTG, NC_000001.10:g.16750055_16750056insTTG, NW_025791756.1:g.227688_227689insTG, NW_025791756.1:g.227688_227689insTTG

Select item 14913361789.

rs1491336178 has merged into rs112533132 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:16422521 (GRCh38)
1:16749016 (GRCh37)
Canonical SPDI:: NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:16422509:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4563/2285 (1000Genomes)
HGVS:: NC_000001.11:g.16422521_16422524del, NC_000001.11:g.16422522_16422524del, NC_000001.11:g.16422523_16422524del, NC_000001.11:g.16422524del, NC_000001.11:g.16422524dup, NC_000001.11:g.16422523_16422524dup, NC_000001.11:g.16422522_16422524dup, NC_000001.11:g.16422521_16422524dup, NC_000001.11:g.16422511_16422524dup, NC_000001.10:g.16749016_16749019del, NC_000001.10:g.16749017_16749019del, NC_000001.10:g.16749018_16749019del, NC_000001.10:g.16749019del, NC_000001.10:g.16749019dup, NC_000001.10:g.16749018_16749019dup, NC_000001.10:g.16749017_16749019dup, NC_000001.10:g.16749016_16749019dup, NC_000001.10:g.16749006_16749019dup, NW_025791756.1:g.226649_226652del, NW_025791756.1:g.226650_226652del, NW_025791756.1:g.226651_226652del, NW_025791756.1:g.226652del, NW_025791756.1:g.226652dup, NW_025791756.1:g.226651_226652dup, NW_025791756.1:g.226650_226652dup, NW_025791756.1:g.226649_226652dup, NW_025791756.1:g.226639_226652dup

Select item 149132785210.

rs1491327852 has merged into rs1229942098 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:16403488 (GRCh38)
1:16729983 (GRCh37)
Canonical SPDI:: NC_000001.11:16403483:TTTTTTTT:TTTT,NC_000001.11:16403483:TTTTTTTT:TTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16403483:TTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.16403488_16403491del, NC_000001.11:g.16403489_16403491del, NC_000001.11:g.16403490_16403491del, NC_000001.11:g.16403491del, NC_000001.11:g.16403491dup, NC_000001.11:g.16403490_16403491dup, NC_000001.11:g.16403489_16403491dup, NC_000001.11:g.16403488_16403491dup, NC_000001.11:g.16403487_16403491dup, NC_000001.11:g.16403486_16403491dup, NC_000001.11:g.16403485_16403491dup, NC_000001.11:g.16403491_16403492insTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.16403491_16403492insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16729983_16729986del, NC_000001.10:g.16729984_16729986del, NC_000001.10:g.16729985_16729986del, NC_000001.10:g.16729986del, NC_000001.10:g.16729986dup, NC_000001.10:g.16729985_16729986dup, NC_000001.10:g.16729984_16729986dup, NC_000001.10:g.16729983_16729986dup, NC_000001.10:g.16729982_16729986dup, NC_000001.10:g.16729981_16729986dup, NC_000001.10:g.16729980_16729986dup, NC_000001.10:g.16729986_16729987insTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.16729986_16729987insTTTTTTTTTTTTTTTTTTTTTTT, NW_025791756.1:g.207641_207644del, NW_025791756.1:g.207642_207644del, NW_025791756.1:g.207643_207644del, NW_025791756.1:g.207644del, NW_025791756.1:g.207644dup, NW_025791756.1:g.207643_207644dup, NW_025791756.1:g.207642_207644dup, NW_025791756.1:g.207641_207644dup, NW_025791756.1:g.207640_207644dup, NW_025791756.1:g.207639_207644dup, NW_025791756.1:g.207638_207644dup, NW_025791756.1:g.207636_207644dup, NW_025791756.1:g.207635_207644dup, NW_025791756.1:g.207634_207644dup, NW_025791756.1:g.207633_207644dup, NW_025791756.1:g.207632_207644dup, NW_025791756.1:g.207631_207644dup, NW_025791756.1:g.207630_207644dup, NW_025791756.1:g.207628_207644dup, NW_025791756.1:g.207626_207644dup, NW_025791756.1:g.207624_207644dup, NW_025791756.1:g.207644_207645insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128406711.

rs1491284067 has merged into rs869271995 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:16426590 (GRCh38)
1:16753085 (GRCh37)
Canonical SPDI:: NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:16426579:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SPATA21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.16426590_16426597del, NC_000001.11:g.16426591_16426597del, NC_000001.11:g.16426592_16426597del, NC_000001.11:g.16426593_16426597del, NC_000001.11:g.16426594_16426597del, NC_000001.11:g.16426595_16426597del, NC_000001.11:g.16426596_16426597del, NC_000001.11:g.16426597del, NC_000001.11:g.16426597dup, NC_000001.11:g.16426596_16426597dup, NC_000001.11:g.16426595_16426597dup, NC_000001.11:g.16426592_16426597dup, NC_000001.10:g.16753085_16753092del, NC_000001.10:g.16753086_16753092del, NC_000001.10:g.16753087_16753092del, NC_000001.10:g.16753088_16753092del, NC_000001.10:g.16753089_16753092del, NC_000001.10:g.16753090_16753092del, NC_000001.10:g.16753091_16753092del, NC_000001.10:g.16753092del, NC_000001.10:g.16753092dup, NC_000001.10:g.16753091_16753092dup, NC_000001.10:g.16753090_16753092dup, NC_000001.10:g.16753087_16753092dup, NW_025791756.1:g.230844A>T, NW_025791756.1:g.230844_230851del, NW_025791756.1:g.230844_230850del, NW_025791756.1:g.230844_230849del, NW_025791756.1:g.230844_230848del, NW_025791756.1:g.230844_230847del, NW_025791756.1:g.230844_230846del, NW_025791756.1:g.230822AT[11], NW_025791756.1:g.230844del, NW_025791756.1:g.230844delinsTT, NW_025791756.1:g.230844delinsTTT, NW_025791756.1:g.230844delinsTTTT, NW_025791756.1:g.230844delinsTTTTTTT

Select item 149127690412.

rs1491276904 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:16423560 (GRCh38)
1:16750055 (GRCh37)
Canonical SPDI:: NC_000001.11:16423559:TG:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00143/17 (ALFA)
HGVS:: NC_000001.11:g.16423560_16423561del, NC_000001.10:g.16750055_16750056del, NW_025791756.1:g.227688_227689del

Select item 149126064513.

rs1491260645 has merged into rs1161125061 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:16423424 (GRCh38)
1:16749919 (GRCh37)
Canonical SPDI:: NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:16423412:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPATA21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.0408/8 (NorthernSweden)
HGVS:: NC_000001.11:g.16423424_16423433del, NC_000001.11:g.16423426_16423433del, NC_000001.11:g.16423427_16423433del, NC_000001.11:g.16423428_16423433del, NC_000001.11:g.16423429_16423433del, NC_000001.11:g.16423430_16423433del, NC_000001.11:g.16423431_16423433del, NC_000001.11:g.16423432_16423433del, NC_000001.11:g.16423433del, NC_000001.11:g.16423433dup, NC_000001.11:g.16423432_16423433dup, NC_000001.11:g.16423431_16423433dup, NC_000001.11:g.16423430_16423433dup, NC_000001.11:g.16423427_16423433dup, NC_000001.10:g.16749919_16749928del, NC_000001.10:g.16749921_16749928del, NC_000001.10:g.16749922_16749928del, NC_000001.10:g.16749923_16749928del, NC_000001.10:g.16749924_16749928del, NC_000001.10:g.16749925_16749928del, NC_000001.10:g.16749926_16749928del, NC_000001.10:g.16749927_16749928del, NC_000001.10:g.16749928del, NC_000001.10:g.16749928dup, NC_000001.10:g.16749927_16749928dup, NC_000001.10:g.16749926_16749928dup, NC_000001.10:g.16749925_16749928dup, NC_000001.10:g.16749922_16749928dup, NW_025791756.1:g.227552_227561del, NW_025791756.1:g.227554_227561del, NW_025791756.1:g.227555_227561del, NW_025791756.1:g.227556_227561del, NW_025791756.1:g.227557_227561del, NW_025791756.1:g.227558_227561del, NW_025791756.1:g.227559_227561del, NW_025791756.1:g.227560_227561del, NW_025791756.1:g.227561del, NW_025791756.1:g.227561dup, NW_025791756.1:g.227560_227561dup, NW_025791756.1:g.227559_227561dup, NW_025791756.1:g.227558_227561dup, NW_025791756.1:g.227555_227561dup

Select item 149124869414.

rs1491248694 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:16435622 (GRCh38)
1:16762117 (GRCh37)
Canonical SPDI:: NC_000001.11:16435621:CT:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000001.11:g.16435622_16435623del, NC_000001.10:g.16762117_16762118del, NW_025791756.1:g.239885_239886del

Select item 149122522015.

rs1491225220 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:16408869 (GRCh38)
1:16735364 (GRCh37)
Canonical SPDI:: NC_000001.11:16408868:CA:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.00259/73 (TOMMO)
HGVS:: NC_000001.11:g.16408869_16408870del, NC_000001.10:g.16735364_16735365del, NW_025791756.1:g.213009dup, NW_025791756.1:g.212993del

Select item 149122402816.

rs1491224028 has merged into rs71574184 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 1:16416692 (GRCh38)
1:16743187 (GRCh37)
Canonical SPDI:: NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:16416680:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SPATA21 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.4409/2208 (1000Genomes)
HGVS:: NC_000001.11:g.16416692_16416695del, NC_000001.11:g.16416693_16416695del, NC_000001.11:g.16416694_16416695del, NC_000001.11:g.16416695del, NC_000001.11:g.16416695dup, NC_000001.11:g.16416694_16416695dup, NC_000001.11:g.16416693_16416695dup, NC_000001.11:g.16416689_16416695dup, NC_000001.10:g.16743187_16743190del, NC_000001.10:g.16743188_16743190del, NC_000001.10:g.16743189_16743190del, NC_000001.10:g.16743190del, NC_000001.10:g.16743190dup, NC_000001.10:g.16743189_16743190dup, NC_000001.10:g.16743188_16743190dup, NC_000001.10:g.16743184_16743190dup, NW_025791756.1:g.220820_220823del, NW_025791756.1:g.220821_220823del, NW_025791756.1:g.220822_220823del, NW_025791756.1:g.220823del, NW_025791756.1:g.220823dup, NW_025791756.1:g.220822_220823dup, NW_025791756.1:g.220821_220823dup, NW_025791756.1:g.220817_220823dup

Select item 149122267117.

rs1491222671 has merged into rs1553166390 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:16426580 (GRCh38)
1:16753076 (GRCh37)
Canonical SPDI:: NC_000001.11:16426580::A,NC_000001.11:16426580::ATA,NC_000001.11:16426580::ATATA,NC_000001.11:16426580::ATATATA,NC_000001.11:16426580::ATATATATA,NC_000001.11:16426580::ATATATATATA,NC_000001.11:16426580::ATATATATATATA,NC_000001.11:16426580::ATATATATATATATA,NC_000001.11:16426580::ATATATATATATATATA,NC_000001.11:16426580::ATATATATATATATATATA,NC_000001.11:16426580::ATATATATATATATATATATA
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATATATATATATATATA=0.000004/1 (TOPMED)
A=0.103321/56 (NorthernSweden)
HGVS:: NC_000001.11:g.16426580_16426581insA, NC_000001.11:g.16426580_16426581insATA, NC_000001.11:g.16426580_16426581insATATA, NC_000001.11:g.16426580_16426581insATATATA, NC_000001.11:g.16426580_16426581insATATATATA, NC_000001.11:g.16426580_16426581insATATATATATA, NC_000001.11:g.16426580_16426581insATATATATATATA, NC_000001.11:g.16426580_16426581insATATATATATATATA, NC_000001.11:g.16426580_16426581insATATATATATATATATA, NC_000001.11:g.16426580_16426581insATATATATATATATATATA, NC_000001.11:g.16426580_16426581insATATATATATATATATATATA, NC_000001.10:g.16753075_16753076insA, NC_000001.10:g.16753075_16753076insATA, NC_000001.10:g.16753075_16753076insATATA, NC_000001.10:g.16753075_16753076insATATATA, NC_000001.10:g.16753075_16753076insATATATATA, NC_000001.10:g.16753075_16753076insATATATATATA, NC_000001.10:g.16753075_16753076insATATATATATATA, NC_000001.10:g.16753075_16753076insATATATATATATATA, NC_000001.10:g.16753075_16753076insATATATATATATATATA, NC_000001.10:g.16753075_16753076insATATATATATATATATATA, NC_000001.10:g.16753075_16753076insATATATATATATATATATATA, NW_025791756.1:g.230844dup, NW_025791756.1:g.230845_230846insAAT, NW_025791756.1:g.230844_230845AT[2]AAT[1], NW_025791756.1:g.230844_230845AT[3]AAT[1], NW_025791756.1:g.230844_230845AT[4]AAT[1], NW_025791756.1:g.230844_230845AT[5]AAT[1], NW_025791756.1:g.230844_230845AT[6]AAT[1], NW_025791756.1:g.230844_230845AT[7]AAT[1], NW_025791756.1:g.230844_230845AT[8]AAT[1], NW_025791756.1:g.230844_230845AT[9]AAT[1], NW_025791756.1:g.230844_230845AT[10]AAT[1]

Select item 149120069718.

rs1491200697 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:16423412 (GRCh38)
1:16749907 (GRCh37)
Canonical SPDI:: NC_000001.11:16423411:CA:
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00236/28 (ALFA)
HGVS:: NC_000001.11:g.16423412_16423413del, NC_000001.10:g.16749907_16749908del, NW_025791756.1:g.227540_227541del

Select item 149118916919.

rs1491189169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT,CTTCT,CTTCTTCT [Show Flanks]
Chromosome:: 1:16432115 (GRCh38)
1:16758611 (GRCh37)
Canonical SPDI:: NC_000001.11:16432115:T:TCT,NC_000001.11:16432115:T:TCTTCT,NC_000001.11:16432115:T:TCTTCTTCT
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTTCTTCT=0./0 (ALFA)
HGVS:: NC_000001.11:g.16432116_16432117insCT, NC_000001.11:g.16432116_16432117insCTTCT, NC_000001.11:g.16432116_16432117insCTTCTTCT, NC_000001.10:g.16758611_16758612insCT, NC_000001.10:g.16758611_16758612insCTTCT, NC_000001.10:g.16758611_16758612insCTTCTTCT, NW_025791756.1:g.236379_236380insCT, NW_025791756.1:g.236379_236380insCTTCT, NW_025791756.1:g.236379_236380insCTTCTTCT

Select item 149118442320.

rs1491184423 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAC,AAG,G [Show Flanks]
Chromosome:: 1:16405515 (GRCh38)
1:16732011 (GRCh37)
Canonical SPDI:: NC_000001.11:16405515::AAC,NC_000001.11:16405515::AAG,NC_000001.11:16405515::G
Gene:: SPATA21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.16405515_16405516insAAC, NC_000001.11:g.16405515_16405516insAAG, NC_000001.11:g.16405515_16405516insG, NC_000001.10:g.16732010_16732011insAAC, NC_000001.10:g.16732010_16732011insAAG, NC_000001.10:g.16732010_16732011insG, NW_025791756.1:g.209651_209652insAAC, NW_025791756.1:g.209651_209652insAAG, NW_025791756.1:g.209651_209652insG

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