SNP Links for Nucleotide (Select 343432605) - SNP

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Select item 14915847321.

rs1491584732 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:51060505 (GRCh38)
17:49137866 (GRCh37)
Canonical SPDI:: NC_000017.11:51060504:TA:
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000674/8 (ALFA)
-=0.000466/59 (GnomAD)
HGVS:: NC_000017.11:g.51060505_51060506del, NC_000017.10:g.49137866_49137867del, NG_029710.1:g.65360_65361del

Select item 14915573372.

rs1491557337 has merged into rs1218288333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTA>-,TCTATCTA,TCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTATCTATCTA [Show Flanks]
Chromosome:: 17:51077061 (GRCh38)
17:49154422 (GRCh37)
Canonical SPDI:: NC_000017.11:51077057:CTATCTA:CTA,NC_000017.11:51077057:CTATCTA:CTATCTATCTA,NC_000017.11:51077057:CTATCTA:CTATCTATCTAGCTAGCTATCTAGCTATCTAGCTAGCTATCTATCTA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTATCTATCTA=0./0 (ALFA)
HGVS:: NC_000017.11:g.51077061_51077064del, NC_000017.11:g.51077061_51077064dup, NC_000017.11:g.51077058_51077064CTAT[2]CTAG[2]CTATCTAG[2]CTAGCTATCTATCTA[1], NC_000017.10:g.49154422_49154425del, NC_000017.10:g.49154422_49154425dup, NC_000017.10:g.49154419_49154425CTAT[2]CTAG[2]CTATCTAG[2]CTAGCTATCTATCTA[1], NG_029710.1:g.48805_48808del, NG_029710.1:g.48805_48808dup, NG_029710.1:g.48802_48808TAGA[2]TAGC[2]TAGATAGC[2]TAGCTAGATAGATAG[1]

Select item 14915468403.

rs1491546840 has merged into rs1197585096 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTA>-,TCTATCTA,TCTATCTATCTA [Show Flanks]
Chromosome:: 17:51076993 (GRCh38)
17:49154354 (GRCh37)
Canonical SPDI:: NC_000017.11:51076989:CTATCTA:CTA,NC_000017.11:51076989:CTATCTA:CTATCTATCTA,NC_000017.11:51076989:CTATCTA:CTATCTATCTATCTA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTATCTATCTA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.0339/20 (NorthernSweden)
HGVS:: NC_000017.11:g.51076993_51076996del, NC_000017.11:g.51076993_51076996dup, NC_000017.11:g.51076993TCTA[3], NC_000017.10:g.49154354_49154357del, NC_000017.10:g.49154354_49154357dup, NC_000017.10:g.49154354TCTA[3], NG_029710.1:g.48873_48876del, NG_029710.1:g.48873_48876dup, NG_029710.1:g.48873ATAG[3]

Select item 14915466334.

rs1491546633 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:51000755 (GRCh38)
17:49078116 (GRCh37)
Canonical SPDI:: NC_000017.11:51000754:GA:
Gene:: SPAG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00004/1 (GnomAD)
HGVS:: NC_000017.11:g.51000755_51000756del, NC_000017.10:g.49078116_49078117del, NG_029710.1:g.125110_125111del

Select item 14915330015.

rs1491533001 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGATATAGTTATATATA [Show Flanks]
Chromosome:: 17:51095959 (GRCh38)
17:49173321 (GRCh37)
Canonical SPDI:: NC_000017.11:51095959:TATATATA:TATATATAGTGATATAGTTATATATA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TATATATAGTGATATAGT=0.00004/3 (GnomAD)
HGVS:: NC_000017.11:g.51095960_51095967TA[4]GTGATATAGTTATATATA[1], NC_000017.10:g.49173321_49173328TA[4]GTGATATAGTTATATATA[1], NG_029710.1:g.29899_29906TA[4]ACTATATCACTATATATA[1]

Select item 14915307716.

rs1491530771 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGCTTAGGGTACC [Show Flanks]
Chromosome:: 17:50973505 (GRCh38)
17:49050867 (GRCh37)
Canonical SPDI:: NC_000017.11:50973505:TTGCTTAGGGTACC:TTGCTTAGGGTACCTTGCTTAGGGTACC
Gene:: SPAG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTGCTTAGGGTACCTTGCTTAGGGTACC=0./0 (ALFA)
TTGCTTAGGGTACC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50973506_50973519dup, NC_000017.10:g.49050867_49050880dup, NG_029710.1:g.152347_152360dup

Select item 14915294657.

rs1491529465 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAAAATATATATATAT,AAAAAT,AAAAATAT,AAAAATATAT,AAAAT,AAAATAT,AAAATATAT,AAAATATATAT,AAAATATATATATAT,AAAATATATATATATATAT,AAAT,AAATAT,AAATATAT,AAATATATAT,AAT,AATAT,AATATAT,AATATATAT,AATATATATAT,AATATATATATAT,ACT,AGT,AGTAT,AGTATAT,AGTATATAT,AGTATGT,AT,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATATAT,ATATATATATATATATAT,T,TAT,TATAT,TATATAT,TATATATAT,TATATATATAT,TATATATATATAT,TATATATATATATAT [Show Flanks]
Chromosome:: 17:51053854 (GRCh38)
17:49131216 (GRCh37)
Canonical SPDI:: NC_000017.11:51053854::AAAAAAATATATATATAT,NC_000017.11:51053854::AAAAAT,NC_000017.11:51053854::AAAAATAT,NC_000017.11:51053854::AAAAATATAT,NC_000017.11:51053854::AAAAT,NC_000017.11:51053854::AAAATAT,NC_000017.11:51053854::AAAATATAT,NC_000017.11:51053854::AAAATATATAT,NC_000017.11:51053854::AAAATATATATATAT,NC_000017.11:51053854::AAAATATATATATATATAT,NC_000017.11:51053854::AAAT,NC_000017.11:51053854::AAATAT,NC_000017.11:51053854::AAATATAT,NC_000017.11:51053854::AAATATATAT,NC_000017.11:51053854::AAT,NC_000017.11:51053854::AATAT,NC_000017.11:51053854::AATATAT,NC_000017.11:51053854::AATATATAT,NC_000017.11:51053854::AATATATATAT,NC_000017.11:51053854::AATATATATATAT,NC_000017.11:51053854::ACT,NC_000017.11:51053854::AGT,NC_000017.11:51053854::AGTAT,NC_000017.11:51053854::AGTATAT,NC_000017.11:51053854::AGTATATAT,NC_000017.11:51053854::AGTATGT,NC_000017.11:51053854::AT,NC_000017.11:51053854::ATAT,NC_000017.11:51053854::ATATAT,NC_000017.11:51053854::ATATATAT,NC_000017.11:51053854::ATATATATAT,NC_000017.11:51053854::ATATATATATATAT,NC_000017.11:51053854::ATATATATATATATATAT,NC_000017.11:51053854::T,NC_000017.11:51053854::TAT,NC_000017.11:51053854::TATAT,NC_000017.11:51053854::TATATAT,NC_000017.11:51053854::TATATATAT,NC_000017.11:51053854::TATATATATAT,NC_000017.11:51053854::TATATATATATAT,NC_000017.11:51053854::TATATATATATATAT
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAATATAT=0./0 (ALFA)
T=0.00299/80 (TOMMO)
HGVS:: NC_000017.11:g.51053854_51053855insAAAAAAATATATATATAT, NC_000017.11:g.51053854_51053855insAAAAAT, NC_000017.11:g.51053854_51053855insAAAAATAT, NC_000017.11:g.51053854_51053855insAAAAATATAT, NC_000017.11:g.51053854_51053855insAAAAT, NC_000017.11:g.51053854_51053855insAAAATAT, NC_000017.11:g.51053854_51053855insAAAATATAT, NC_000017.11:g.51053854_51053855insAAAATATATAT, NC_000017.11:g.51053854_51053855insAAAATATATATATAT, NC_000017.11:g.51053854_51053855insAAAATATATATATATATAT, NC_000017.11:g.51053854_51053855insAAAT, NC_000017.11:g.51053854_51053855insAAATAT, NC_000017.11:g.51053854_51053855insAAATATAT, NC_000017.11:g.51053854_51053855insAAATATATAT, NC_000017.11:g.51053854_51053855insAAT, NC_000017.11:g.51053854_51053855insAATAT, NC_000017.11:g.51053854_51053855insAATATAT, NC_000017.11:g.51053854_51053855insAATATATAT, NC_000017.11:g.51053854_51053855insAATATATATAT, NC_000017.11:g.51053854_51053855insAATATATATATAT, NC_000017.11:g.51053854_51053855insACT, NC_000017.11:g.51053854_51053855insAGT, NC_000017.11:g.51053854_51053855insAGTAT, NC_000017.11:g.51053854_51053855insAGTATAT, NC_000017.11:g.51053854_51053855insAGTATATAT, NC_000017.11:g.51053854_51053855insAGTATGT, NC_000017.11:g.51053854_51053855insAT, NC_000017.11:g.51053854_51053855insATAT, NC_000017.11:g.51053854_51053855insATATAT, NC_000017.11:g.51053854_51053855insATATATAT, NC_000017.11:g.51053854_51053855insATATATATAT, NC_000017.11:g.51053854_51053855insATATATATATATAT, NC_000017.11:g.51053854_51053855insATATATATATATATATAT, NC_000017.11:g.51053854_51053855insT, NC_000017.11:g.51053854_51053855insTAT, NC_000017.11:g.51053854_51053855insTATAT, NC_000017.11:g.51053854_51053855insTATATAT, NC_000017.11:g.51053854_51053855insTATATATAT, NC_000017.11:g.51053854_51053855insTATATATATAT, NC_000017.11:g.51053854_51053855insTATATATATATAT, NC_000017.11:g.51053854_51053855insTATATATATATATAT, NC_000017.10:g.49131215_49131216insAAAAAAATATATATATAT, NC_000017.10:g.49131215_49131216insAAAAAT, NC_000017.10:g.49131215_49131216insAAAAATAT, NC_000017.10:g.49131215_49131216insAAAAATATAT, NC_000017.10:g.49131215_49131216insAAAAT, NC_000017.10:g.49131215_49131216insAAAATAT, NC_000017.10:g.49131215_49131216insAAAATATAT, NC_000017.10:g.49131215_49131216insAAAATATATAT, NC_000017.10:g.49131215_49131216insAAAATATATATATAT, NC_000017.10:g.49131215_49131216insAAAATATATATATATATAT, NC_000017.10:g.49131215_49131216insAAAT, NC_000017.10:g.49131215_49131216insAAATAT, NC_000017.10:g.49131215_49131216insAAATATAT, NC_000017.10:g.49131215_49131216insAAATATATAT, NC_000017.10:g.49131215_49131216insAAT, NC_000017.10:g.49131215_49131216insAATAT, NC_000017.10:g.49131215_49131216insAATATAT, NC_000017.10:g.49131215_49131216insAATATATAT, NC_000017.10:g.49131215_49131216insAATATATATAT, NC_000017.10:g.49131215_49131216insAATATATATATAT, NC_000017.10:g.49131215_49131216insACT, NC_000017.10:g.49131215_49131216insAGT, NC_000017.10:g.49131215_49131216insAGTAT, NC_000017.10:g.49131215_49131216insAGTATAT, NC_000017.10:g.49131215_49131216insAGTATATAT, NC_000017.10:g.49131215_49131216insAGTATGT, NC_000017.10:g.49131215_49131216insAT, NC_000017.10:g.49131215_49131216insATAT, NC_000017.10:g.49131215_49131216insATATAT, NC_000017.10:g.49131215_49131216insATATATAT, NC_000017.10:g.49131215_49131216insATATATATAT, NC_000017.10:g.49131215_49131216insATATATATATATAT, NC_000017.10:g.49131215_49131216insATATATATATATATATAT, NC_000017.10:g.49131215_49131216insT, NC_000017.10:g.49131215_49131216insTAT, NC_000017.10:g.49131215_49131216insTATAT, NC_000017.10:g.49131215_49131216insTATATAT, NC_000017.10:g.49131215_49131216insTATATATAT, NC_000017.10:g.49131215_49131216insTATATATATAT, NC_000017.10:g.49131215_49131216insTATATATATATAT, NC_000017.10:g.49131215_49131216insTATATATATATATAT, NG_029710.1:g.72011_72012insATATATATATATTTTTTT, NG_029710.1:g.72011_72012insATTTTT, NG_029710.1:g.72011_72012insATATTTTT, NG_029710.1:g.72011_72012insATATATTTTT, NG_029710.1:g.72011_72012insATTTT, NG_029710.1:g.72011_72012insATATTTT, NG_029710.1:g.72011_72012insATATATTTT, NG_029710.1:g.72011_72012insATATATATTTT, NG_029710.1:g.72011_72012insATATATATATATTTT, NG_029710.1:g.72011_72012insATATATATATATATATTTT, NG_029710.1:g.72011_72012insATTT, NG_029710.1:g.72011_72012insATATTT, NG_029710.1:g.72011_72012insATATATTT, NG_029710.1:g.72011_72012insATATATATTT, NG_029710.1:g.72011_72012insATT, NG_029710.1:g.72011_72012insATATT, NG_029710.1:g.72011_72012insATATATT, NG_029710.1:g.72011_72012insATATATATT, NG_029710.1:g.72011_72012insATATATATATT, NG_029710.1:g.72011_72012insATATATATATATT, NG_029710.1:g.72011_72012insAGT, NG_029710.1:g.72011_72012insACT, NG_029710.1:g.72011_72012insATACT, NG_029710.1:g.72011_72012insATATACT, NG_029710.1:g.72011_72012insATATATACT, NG_029710.1:g.72011_72012insACATACT, NG_029710.1:g.72011_72012insAT, NG_029710.1:g.72011_72012insATAT, NG_029710.1:g.72011_72012insATATAT, NG_029710.1:g.72011_72012insATATATAT, NG_029710.1:g.72011_72012insATATATATAT, NG_029710.1:g.72011_72012insATATATATATATAT, NG_029710.1:g.72011_72012insATATATATATATATATAT, NG_029710.1:g.72011_72012insA, NG_029710.1:g.72011_72012insATA, NG_029710.1:g.72011_72012insATATA, NG_029710.1:g.72011_72012insATATATA, NG_029710.1:g.72011_72012insATATATATA, NG_029710.1:g.72011_72012insATATATATATA, NG_029710.1:g.72011_72012insATATATATATATA, NG_029710.1:g.72011_72012insATATATATATATATA

Select item 14915261708.

rs1491526170 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:51076989 (GRCh38)
17:49154350 (GRCh37)
Canonical SPDI:: NC_000017.11:51076988:GC:
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00135/120 (GnomAD)
HGVS:: NC_000017.11:g.51076989_51076990del, NC_000017.10:g.49154350_49154351del, NG_029710.1:g.48876_48877del

Select item 14915180679.

rs1491518067 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:51077065 (GRCh38)
17:49154426 (GRCh37)
Canonical SPDI:: NC_000017.11:51077064:GC:
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000155/17 (GnomAD)
HGVS:: NC_000017.11:g.51077065_51077066del, NC_000017.10:g.49154426_49154427del, NG_029710.1:g.48800_48801del

Select item 149150468110.

rs1491504681 has merged into rs34917845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:51113362 (GRCh38)
17:49190723 (GRCh37)
Canonical SPDI:: NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51113353:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.0553/213 (ALSPAC)
HGVS:: NC_000017.11:g.51113362_51113371del, NC_000017.11:g.51113363_51113371del, NC_000017.11:g.51113364_51113371del, NC_000017.11:g.51113365_51113371del, NC_000017.11:g.51113366_51113371del, NC_000017.11:g.51113367_51113371del, NC_000017.11:g.51113368_51113371del, NC_000017.11:g.51113369_51113371del, NC_000017.11:g.51113370_51113371del, NC_000017.11:g.51113371del, NC_000017.11:g.51113371dup, NC_000017.11:g.51113370_51113371dup, NC_000017.11:g.51113369_51113371dup, NC_000017.11:g.51113368_51113371dup, NC_000017.11:g.51113367_51113371dup, NC_000017.11:g.51113366_51113371dup, NC_000017.11:g.51113365_51113371dup, NC_000017.11:g.51113364_51113371dup, NC_000017.11:g.51113363_51113371dup, NC_000017.11:g.51113362_51113371dup, NC_000017.11:g.51113358_51113371dup, NC_000017.10:g.49190723_49190732del, NC_000017.10:g.49190724_49190732del, NC_000017.10:g.49190725_49190732del, NC_000017.10:g.49190726_49190732del, NC_000017.10:g.49190727_49190732del, NC_000017.10:g.49190728_49190732del, NC_000017.10:g.49190729_49190732del, NC_000017.10:g.49190730_49190732del, NC_000017.10:g.49190731_49190732del, NC_000017.10:g.49190732del, NC_000017.10:g.49190732dup, NC_000017.10:g.49190731_49190732dup, NC_000017.10:g.49190730_49190732dup, NC_000017.10:g.49190729_49190732dup, NC_000017.10:g.49190728_49190732dup, NC_000017.10:g.49190727_49190732dup, NC_000017.10:g.49190726_49190732dup, NC_000017.10:g.49190725_49190732dup, NC_000017.10:g.49190724_49190732dup, NC_000017.10:g.49190723_49190732dup, NC_000017.10:g.49190719_49190732dup, NG_029710.1:g.12503_12512del, NG_029710.1:g.12504_12512del, NG_029710.1:g.12505_12512del, NG_029710.1:g.12506_12512del, NG_029710.1:g.12507_12512del, NG_029710.1:g.12508_12512del, NG_029710.1:g.12509_12512del, NG_029710.1:g.12510_12512del, NG_029710.1:g.12511_12512del, NG_029710.1:g.12512del, NG_029710.1:g.12512dup, NG_029710.1:g.12511_12512dup, NG_029710.1:g.12510_12512dup, NG_029710.1:g.12509_12512dup, NG_029710.1:g.12508_12512dup, NG_029710.1:g.12507_12512dup, NG_029710.1:g.12506_12512dup, NG_029710.1:g.12505_12512dup, NG_029710.1:g.12504_12512dup, NG_029710.1:g.12503_12512dup, NG_029710.1:g.12499_12512dup

Select item 149149317811.

rs1491493178 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:51077053 (GRCh38)
17:49154414 (GRCh37)
Canonical SPDI:: NC_000017.11:51077052:GC:
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00021/4 (TOMMO)
HGVS:: NC_000017.11:g.51077053_51077054del, NC_000017.10:g.49154414_49154415del, NG_029710.1:g.48812_48813del

Select item 149149085712.

rs1491490857 has merged into rs10549685 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:51025330 (GRCh38)
17:49102691 (GRCh37)
Canonical SPDI:: NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51025316:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPAG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.4259/2133 (1000Genomes)
HGVS:: NC_000017.11:g.51025330_51025346del, NC_000017.11:g.51025331_51025346del, NC_000017.11:g.51025332_51025346del, NC_000017.11:g.51025333_51025346del, NC_000017.11:g.51025334_51025346del, NC_000017.11:g.51025335_51025346del, NC_000017.11:g.51025336_51025346del, NC_000017.11:g.51025337_51025346del, NC_000017.11:g.51025338_51025346del, NC_000017.11:g.51025339_51025346del, NC_000017.11:g.51025340_51025346del, NC_000017.11:g.51025341_51025346del, NC_000017.11:g.51025342_51025346del, NC_000017.11:g.51025343_51025346del, NC_000017.11:g.51025344_51025346del, NC_000017.11:g.51025345_51025346del, NC_000017.11:g.51025346del, NC_000017.11:g.51025346dup, NC_000017.11:g.51025345_51025346dup, NC_000017.11:g.51025344_51025346dup, NC_000017.11:g.51025343_51025346dup, NC_000017.11:g.51025342_51025346dup, NC_000017.11:g.51025341_51025346dup, NC_000017.11:g.51025340_51025346dup, NC_000017.10:g.49102691_49102707del, NC_000017.10:g.49102692_49102707del, NC_000017.10:g.49102693_49102707del, NC_000017.10:g.49102694_49102707del, NC_000017.10:g.49102695_49102707del, NC_000017.10:g.49102696_49102707del, NC_000017.10:g.49102697_49102707del, NC_000017.10:g.49102698_49102707del, NC_000017.10:g.49102699_49102707del, NC_000017.10:g.49102700_49102707del, NC_000017.10:g.49102701_49102707del, NC_000017.10:g.49102702_49102707del, NC_000017.10:g.49102703_49102707del, NC_000017.10:g.49102704_49102707del, NC_000017.10:g.49102705_49102707del, NC_000017.10:g.49102706_49102707del, NC_000017.10:g.49102707del, NC_000017.10:g.49102707dup, NC_000017.10:g.49102706_49102707dup, NC_000017.10:g.49102705_49102707dup, NC_000017.10:g.49102704_49102707dup, NC_000017.10:g.49102703_49102707dup, NC_000017.10:g.49102702_49102707dup, NC_000017.10:g.49102701_49102707dup, NG_029710.1:g.100533_100549del, NG_029710.1:g.100534_100549del, NG_029710.1:g.100535_100549del, NG_029710.1:g.100536_100549del, NG_029710.1:g.100537_100549del, NG_029710.1:g.100538_100549del, NG_029710.1:g.100539_100549del, NG_029710.1:g.100540_100549del, NG_029710.1:g.100541_100549del, NG_029710.1:g.100542_100549del, NG_029710.1:g.100543_100549del, NG_029710.1:g.100544_100549del, NG_029710.1:g.100545_100549del, NG_029710.1:g.100546_100549del, NG_029710.1:g.100547_100549del, NG_029710.1:g.100548_100549del, NG_029710.1:g.100549del, NG_029710.1:g.100549dup, NG_029710.1:g.100548_100549dup, NG_029710.1:g.100547_100549dup, NG_029710.1:g.100546_100549dup, NG_029710.1:g.100545_100549dup, NG_029710.1:g.100544_100549dup, NG_029710.1:g.100543_100549dup

Select item 149148192713.

rs1491481927 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:50993315 (GRCh38)
17:49070676 (GRCh37)
Canonical SPDI:: NC_000017.11:50993314:CA:
Gene:: SPAG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000017.11:g.50993315_50993316del, NC_000017.10:g.49070676_49070677del, NG_029710.1:g.132550_132551del

Select item 149148052114.

rs1491480521 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCTA,TCTAGCTAGCTATCTA,TCTAGCTATCTA [Show Flanks]
Chromosome:: 17:51077085 (GRCh38)
17:49154447 (GRCh37)
Canonical SPDI:: NC_000017.11:51077085:CTA:CTATCTA,NC_000017.11:51077085:CTA:CTATCTAGCTAGCTATCTA,NC_000017.11:51077085:CTA:CTATCTAGCTATCTA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTATCTA=0.00143/17 (ALFA)
HGVS:: NC_000017.11:g.51077088_51077089insTCTA, NC_000017.11:g.51077088_51077089insTCTAGCTAGCTATCTA, NC_000017.11:g.51077088_51077089insTCTAGCTATCTA, NC_000017.10:g.49154449_49154450insTCTA, NC_000017.10:g.49154449_49154450insTCTAGCTAGCTATCTA, NC_000017.10:g.49154449_49154450insTCTAGCTATCTA, NG_029710.1:g.48780_48781insATAG, NG_029710.1:g.48780_48781insATAGCTAGCTAGATAG, NG_029710.1:g.48780_48781insATAGCTAGATAG

Select item 149147599715.

rs1491475997 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 17:51077057 (GRCh38)
17:49154418 (GRCh37)
Canonical SPDI:: NC_000017.11:51077056:GC:
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000212/4 (TOMMO)
-=0.000412/48 (GnomAD)
HGVS:: NC_000017.11:g.51077057_51077058del, NC_000017.10:g.49154418_49154419del, NG_029710.1:g.48808_48809del

Select item 149147130616.

Error occurred: cannot get document summary

Select item 149146784017.

rs1491467840 has merged into rs1304479721 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTTT [Show Flanks]
Chromosome:: 17:51089619 (GRCh38)
17:49166980 (GRCh37)
Canonical SPDI:: NC_000017.11:51089617:TTTT:T,NC_000017.11:51089617:TTTT:TT,NC_000017.11:51089617:TTTT:TTT,NC_000017.11:51089617:TTTT:TTTTTT
Gene:: SPAG9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.51089619_51089621del, NC_000017.11:g.51089620_51089621del, NC_000017.11:g.51089621del, NC_000017.11:g.51089620_51089621dup, NC_000017.10:g.49166980_49166982del, NC_000017.10:g.49166981_49166982del, NC_000017.10:g.49166982del, NC_000017.10:g.49166981_49166982dup, NG_029710.1:g.36246_36248del, NG_029710.1:g.36247_36248del, NG_029710.1:g.36248del, NG_029710.1:g.36247_36248dup

Select item 149146735818.

rs1491467358 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT [Show Flanks]
Chromosome:: 17:51037663 (GRCh38)
17:49115025 (GRCh37)
Canonical SPDI:: NC_000017.11:51037663:T:TATAT,NC_000017.11:51037663:T:TATATAT,NC_000017.11:51037663:T:TATATATAT,NC_000017.11:51037663:T:TATATATATAT,NC_000017.11:51037663:T:TATATATATATAT,NC_000017.11:51037663:T:TATATATATATATAT,NC_000017.11:51037663:T:TATATATATATATATAT,NC_000017.11:51037663:T:TATATATATATATATATAT,NC_000017.11:51037663:T:TATATATATATATATATATAT
Gene:: SPAG9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATAT=0./0 (ALFA)
HGVS:: NC_000017.11:g.51037664_51037665insATAT, NC_000017.11:g.51037665AT[3], NC_000017.11:g.51037665AT[4], NC_000017.11:g.51037665AT[5], NC_000017.11:g.51037665AT[6], NC_000017.11:g.51037665AT[7], NC_000017.11:g.51037665AT[8], NC_000017.11:g.51037665AT[9], NC_000017.11:g.51037665AT[10], NC_000017.10:g.49115025_49115026insATAT, NC_000017.10:g.49115026AT[3], NC_000017.10:g.49115026AT[4], NC_000017.10:g.49115026AT[5], NC_000017.10:g.49115026AT[6], NC_000017.10:g.49115026AT[7], NC_000017.10:g.49115026AT[8], NC_000017.10:g.49115026AT[9], NC_000017.10:g.49115026AT[10], NG_029710.1:g.88202_88203insTATA, NG_029710.1:g.88203TA[3], NG_029710.1:g.88203TA[4], NG_029710.1:g.88203TA[5], NG_029710.1:g.88203TA[6], NG_029710.1:g.88203TA[7], NG_029710.1:g.88203TA[8], NG_029710.1:g.88203TA[9], NG_029710.1:g.88203TA[10]

Select item 149145534619.

rs1491455346 has merged into rs746370783 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 17:51089627 (GRCh38)
17:49166988 (GRCh37)
Canonical SPDI:: NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000017.11:51089620:TATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
HGVS:: NC_000017.11:g.51089621TA[3], NC_000017.11:g.51089621TA[5], NC_000017.11:g.51089621TA[6], NC_000017.11:g.51089621TA[7], NC_000017.11:g.51089621TA[8], NC_000017.11:g.51089621TA[9], NC_000017.11:g.51089621TA[10], NC_000017.11:g.51089621TA[11], NC_000017.11:g.51089621TA[12], NC_000017.11:g.51089621TA[13], NC_000017.11:g.51089621TA[14], NC_000017.11:g.51089621TA[15], NC_000017.11:g.51089621TA[16], NC_000017.11:g.51089621TA[17], NC_000017.11:g.51089621TA[18], NC_000017.11:g.51089621TA[19], NC_000017.11:g.51089621TA[20], NC_000017.11:g.51089621TA[21], NC_000017.11:g.51089621TA[23], NC_000017.11:g.51089621TA[24], NC_000017.11:g.51089621TA[25], NC_000017.11:g.51089621TA[26], NC_000017.11:g.51089621TA[27], NC_000017.11:g.51089621TA[28], NC_000017.11:g.51089621TA[29], NC_000017.11:g.51089621TA[30], NC_000017.11:g.51089621TA[31], NC_000017.11:g.51089621TA[32], NC_000017.11:g.51089621TA[33], NC_000017.10:g.49166982TA[3], NC_000017.10:g.49166982TA[5], NC_000017.10:g.49166982TA[6], NC_000017.10:g.49166982TA[7], NC_000017.10:g.49166982TA[8], NC_000017.10:g.49166982TA[9], NC_000017.10:g.49166982TA[10], NC_000017.10:g.49166982TA[11], NC_000017.10:g.49166982TA[12], NC_000017.10:g.49166982TA[13], NC_000017.10:g.49166982TA[14], NC_000017.10:g.49166982TA[15], NC_000017.10:g.49166982TA[16], NC_000017.10:g.49166982TA[17], NC_000017.10:g.49166982TA[18], NC_000017.10:g.49166982TA[19], NC_000017.10:g.49166982TA[20], NC_000017.10:g.49166982TA[21], NC_000017.10:g.49166982TA[23], NC_000017.10:g.49166982TA[24], NC_000017.10:g.49166982TA[25], NC_000017.10:g.49166982TA[26], NC_000017.10:g.49166982TA[27], NC_000017.10:g.49166982TA[28], NC_000017.10:g.49166982TA[29], NC_000017.10:g.49166982TA[30], NC_000017.10:g.49166982TA[31], NC_000017.10:g.49166982TA[32], NC_000017.10:g.49166982TA[33], NG_029710.1:g.36202TA[3], NG_029710.1:g.36202TA[5], NG_029710.1:g.36202TA[6], NG_029710.1:g.36202TA[7], NG_029710.1:g.36202TA[8], NG_029710.1:g.36202TA[9], NG_029710.1:g.36202TA[10], NG_029710.1:g.36202TA[11], NG_029710.1:g.36202TA[12], NG_029710.1:g.36202TA[13], NG_029710.1:g.36202TA[14], NG_029710.1:g.36202TA[15], NG_029710.1:g.36202TA[16], NG_029710.1:g.36202TA[17], NG_029710.1:g.36202TA[18], NG_029710.1:g.36202TA[19], NG_029710.1:g.36202TA[20], NG_029710.1:g.36202TA[21], NG_029710.1:g.36202TA[23], NG_029710.1:g.36202TA[24], NG_029710.1:g.36202TA[25], NG_029710.1:g.36202TA[26], NG_029710.1:g.36202TA[27], NG_029710.1:g.36202TA[28], NG_029710.1:g.36202TA[29], NG_029710.1:g.36202TA[30], NG_029710.1:g.36202TA[31], NG_029710.1:g.36202TA[32], NG_029710.1:g.36202TA[33]

Select item 149144732820.

rs1491447328 has merged into rs71355710 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:51108400 (GRCh38)
17:49185761 (GRCh37)
Canonical SPDI:: NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:51108386:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SPAG9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2214/1109 (1000Genomes)
HGVS:: NC_000017.11:g.51108400_51108404del, NC_000017.11:g.51108401_51108404del, NC_000017.11:g.51108402_51108404del, NC_000017.11:g.51108403_51108404del, NC_000017.11:g.51108404del, NC_000017.11:g.51108404dup, NC_000017.11:g.51108403_51108404dup, NC_000017.11:g.51108402_51108404dup, NC_000017.11:g.51108388_51108404dup, NC_000017.10:g.49185761_49185765del, NC_000017.10:g.49185762_49185765del, NC_000017.10:g.49185763_49185765del, NC_000017.10:g.49185764_49185765del, NC_000017.10:g.49185765del, NC_000017.10:g.49185765dup, NC_000017.10:g.49185764_49185765dup, NC_000017.10:g.49185763_49185765dup, NC_000017.10:g.49185749_49185765dup, NG_029710.1:g.17475_17479del, NG_029710.1:g.17476_17479del, NG_029710.1:g.17477_17479del, NG_029710.1:g.17478_17479del, NG_029710.1:g.17479del, NG_029710.1:g.17479dup, NG_029710.1:g.17478_17479dup, NG_029710.1:g.17477_17479dup, NG_029710.1:g.17463_17479dup

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