SNP Links for Gene (Select 23328) - SNP

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Select item 14915893211.

rs1491589321 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:148340490 (GRCh38)
6:148661626 (GRCh37)
Canonical SPDI:: NC_000006.12:148340489:CA:
Gene:: SASH1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.148340490_148340491del, NC_000006.11:g.148661626_148661627del, NG_051927.1:g.73215_73216del

Select item 14915848842.

rs1491584884 has merged into rs749799607 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT [Show Flanks]
Chromosome:: 6:148322885 (GRCh38)
6:148644021 (GRCh37)
Canonical SPDI:: NC_000006.12:148322883:TTTTT:T,NC_000006.12:148322883:TTTTT:TT,NC_000006.12:148322883:TTTTT:TTT,NC_000006.12:148322883:TTTTT:TTTT
Gene:: SASH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.00017/2 (ALFA)
-=0.00007/1 (TOMMO)
HGVS:: NC_000006.12:g.148322885_148322888del, NC_000006.12:g.148322886_148322888del, NC_000006.12:g.148322887_148322888del, NC_000006.12:g.148322888del, NC_000006.11:g.148644021_148644024del, NC_000006.11:g.148644022_148644024del, NC_000006.11:g.148644023_148644024del, NC_000006.11:g.148644024del, NG_051927.1:g.55610_55613del, NG_051927.1:g.55611_55613del, NG_051927.1:g.55612_55613del, NG_051927.1:g.55613del

Select item 14915776183.

rs1491577618 has merged into rs34729070 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:148358073 (GRCh38)
6:148679209 (GRCh37)
Canonical SPDI:: NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148358060:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SASH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.148358073_148358085del, NC_000006.12:g.148358075_148358085del, NC_000006.12:g.148358077_148358085del, NC_000006.12:g.148358078_148358085del, NC_000006.12:g.148358079_148358085del, NC_000006.12:g.148358080_148358085del, NC_000006.12:g.148358082_148358085del, NC_000006.12:g.148358083_148358085del, NC_000006.12:g.148358084_148358085del, NC_000006.12:g.148358085del, NC_000006.12:g.148358085dup, NC_000006.12:g.148358084_148358085dup, NC_000006.12:g.148358083_148358085dup, NC_000006.12:g.148358082_148358085dup, NC_000006.12:g.148358081_148358085dup, NC_000006.12:g.148358080_148358085dup, NC_000006.12:g.148358062_148358085dup, NC_000006.12:g.148358085_148358086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.148358085_148358086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.148358085_148358086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.148358085_148358086insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.148358061_148358085A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.148679209_148679221del, NC_000006.11:g.148679211_148679221del, NC_000006.11:g.148679213_148679221del, NC_000006.11:g.148679214_148679221del, NC_000006.11:g.148679215_148679221del, NC_000006.11:g.148679216_148679221del, NC_000006.11:g.148679218_148679221del, NC_000006.11:g.148679219_148679221del, NC_000006.11:g.148679220_148679221del, NC_000006.11:g.148679221del, NC_000006.11:g.148679221dup, NC_000006.11:g.148679220_148679221dup, NC_000006.11:g.148679219_148679221dup, NC_000006.11:g.148679218_148679221dup, NC_000006.11:g.148679217_148679221dup, NC_000006.11:g.148679216_148679221dup, NC_000006.11:g.148679198_148679221dup, NC_000006.11:g.148679221_148679222insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.148679221_148679222insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.148679221_148679222insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.148679221_148679222insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.148679197_148679221A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051927.1:g.90798_90810del, NG_051927.1:g.90800_90810del, NG_051927.1:g.90802_90810del, NG_051927.1:g.90803_90810del, NG_051927.1:g.90804_90810del, NG_051927.1:g.90805_90810del, NG_051927.1:g.90807_90810del, NG_051927.1:g.90808_90810del, NG_051927.1:g.90809_90810del, NG_051927.1:g.90810del, NG_051927.1:g.90810dup, NG_051927.1:g.90809_90810dup, NG_051927.1:g.90808_90810dup, NG_051927.1:g.90807_90810dup, NG_051927.1:g.90806_90810dup, NG_051927.1:g.90805_90810dup, NG_051927.1:g.90787_90810dup, NG_051927.1:g.90810_90811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051927.1:g.90810_90811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051927.1:g.90810_90811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051927.1:g.90810_90811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051927.1:g.90786_90810A[31]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14915774144.

rs1491577414 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:148411166 (GRCh38)
6:148732302 (GRCh37)
Canonical SPDI:: NC_000006.12:148411165:CA:
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00006/2 (GnomAD)
HGVS:: NC_000006.12:g.148411166_148411167del, NC_000006.11:g.148732302_148732303del, NG_051927.1:g.143891_143892del

Select item 14915764995.

Error occurred: cannot get document summary

Select item 14915671506.

rs1491567150 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:148438725 (GRCh38)
6:148759861 (GRCh37)
Canonical SPDI:: NC_000006.12:148438724:CA:
Gene:: SASH1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0177/210 (ALFA)
-=0.00092/15 (TOMMO)
-=0.00425/247 (GnomAD)
HGVS:: NC_000006.12:g.148438725_148438726del, NC_000006.11:g.148759861_148759862del, NG_051927.1:g.171450_171451del

Select item 14915663937.

rs1491566393 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 6:148501936 (GRCh38)
6:148823073 (GRCh37)
Canonical SPDI:: NC_000006.12:148501936:AT:ATAAT
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAT=0./0 (ALFA)
ATA=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.148501938_148501939insAAT, NC_000006.11:g.148823074_148823075insAAT, NG_051927.1:g.234663_234664insAAT

Select item 14915660368.

rs1491566036 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:148264177 (GRCh38)
6:148585313 (GRCh37)
Canonical SPDI:: NC_000006.12:148264176:GA:
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0016/19 (ALFA)
-=0.00606/294 (GnomAD)
HGVS:: NC_000006.12:g.148264177_148264178del, NC_000006.11:g.148585313_148585314del

Select item 14915600139.

rs1491560013 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:148327939 (GRCh38)
6:148649075 (GRCh37)
Canonical SPDI:: NC_000006.12:148327938:TA:
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.148327939_148327940del, NC_000006.11:g.148649075_148649076del, NG_051927.1:g.60664_60665del

Select item 149155856510.

rs1491558565 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:148326359 (GRCh38)
6:148647495 (GRCh37)
Canonical SPDI:: NC_000006.12:148326358:CA:
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00008/1 (GnomAD)
HGVS:: NC_000006.12:g.148326359_148326360del, NC_000006.11:g.148647495_148647496del, NG_051927.1:g.59084_59085del

Select item 149155705611.

rs1491557056 has merged into rs373045911 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG [Show Flanks]
Chromosome:: 6:148527994 (GRCh38)
6:148849130 (GRCh37)
Canonical SPDI:: NC_000006.12:148527988:GGGGGGGGGGG:GGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000006.12:148527988:GGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
-=0.0298/115 (ALSPAC)
G=0.3243/1624 (1000Genomes)
-=0.35/14 (GENOME_DK)
-=0.442/259 (NorthernSweden)
HGVS:: NC_000006.12:g.148527994_148527999del, NC_000006.12:g.148527997_148527999del, NC_000006.12:g.148527998_148527999del, NC_000006.12:g.148527999del, NC_000006.12:g.148527999dup, NC_000006.12:g.148527998_148527999dup, NC_000006.12:g.148527997_148527999dup, NC_000006.12:g.148527996_148527999dup, NC_000006.11:g.148849130_148849135del, NC_000006.11:g.148849133_148849135del, NC_000006.11:g.148849134_148849135del, NC_000006.11:g.148849135del, NC_000006.11:g.148849135dup, NC_000006.11:g.148849134_148849135dup, NC_000006.11:g.148849133_148849135dup, NC_000006.11:g.148849132_148849135dup, NG_051927.1:g.260719_260724del, NG_051927.1:g.260722_260724del, NG_051927.1:g.260723_260724del, NG_051927.1:g.260724del, NG_051927.1:g.260724dup, NG_051927.1:g.260723_260724dup, NG_051927.1:g.260722_260724dup, NG_051927.1:g.260721_260724dup

Select item 149155360412.

rs1491553604 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:148289862 (GRCh38)
6:148610999 (GRCh37)
Canonical SPDI:: NC_000006.12:148289862::G
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00008/1 (ALFA)
G=0.00015/4 (TOMMO)
HGVS:: NC_000006.12:g.148289862_148289863insG, NC_000006.11:g.148610998_148610999insG, NG_051927.1:g.22587_22588insG

Select item 149154480613.

rs1491544806 has merged into rs202090526 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:148233225 (GRCh38)
6:148554361 (GRCh37)
Canonical SPDI:: NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148233214:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.25/2 (KOREAN)
HGVS:: NC_000006.12:g.148233225_148233233del, NC_000006.12:g.148233231_148233233del, NC_000006.12:g.148233232_148233233del, NC_000006.12:g.148233233del, NC_000006.12:g.148233233dup, NC_000006.12:g.148233232_148233233dup, NC_000006.12:g.148233231_148233233dup, NC_000006.11:g.148554361_148554369del, NC_000006.11:g.148554367_148554369del, NC_000006.11:g.148554368_148554369del, NC_000006.11:g.148554369del, NC_000006.11:g.148554369dup, NC_000006.11:g.148554368_148554369dup, NC_000006.11:g.148554367_148554369dup

Select item 149153634714.

rs1491536347 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 6:148387521 (GRCh38)
6:148708657 (GRCh37)
Canonical SPDI:: NC_000006.12:148387519:TTT:T
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000017/2 (GnomAD)
HGVS:: NC_000006.12:g.148387521_148387522del, NC_000006.11:g.148708657_148708658del, NG_051927.1:g.120246_120247del

Select item 149152775415.

rs1491527754 [Homo sapiens]

Variant type:: SNV:
Alleles:: GA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149152201216.

rs1491522012 has merged into rs746767710 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:148301342 (GRCh38)
6:148622478 (GRCh37)
Canonical SPDI:: NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148301326:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: SASH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000006.12:g.148301342_148301347del, NC_000006.12:g.148301343_148301347del, NC_000006.12:g.148301344_148301347del, NC_000006.12:g.148301345_148301347del, NC_000006.12:g.148301346_148301347del, NC_000006.12:g.148301347del, NC_000006.12:g.148301347dup, NC_000006.12:g.148301346_148301347dup, NC_000006.11:g.148622478_148622483del, NC_000006.11:g.148622479_148622483del, NC_000006.11:g.148622480_148622483del, NC_000006.11:g.148622481_148622483del, NC_000006.11:g.148622482_148622483del, NC_000006.11:g.148622483del, NC_000006.11:g.148622483dup, NC_000006.11:g.148622482_148622483dup, NG_051927.1:g.34067_34072del, NG_051927.1:g.34068_34072del, NG_051927.1:g.34069_34072del, NG_051927.1:g.34070_34072del, NG_051927.1:g.34071_34072del, NG_051927.1:g.34072del, NG_051927.1:g.34072dup, NG_051927.1:g.34071_34072dup

Select item 149152110917.

rs1491521109 has merged into rs1162225428 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:148334438 (GRCh38)
6:148655574 (GRCh37)
Canonical SPDI:: NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:148334427:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SASH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.148334438_148334448del, NC_000006.12:g.148334441_148334448del, NC_000006.12:g.148334442_148334448del, NC_000006.12:g.148334444_148334448del, NC_000006.12:g.148334446_148334448del, NC_000006.12:g.148334447_148334448del, NC_000006.12:g.148334448del, NC_000006.12:g.148334448dup, NC_000006.12:g.148334447_148334448dup, NC_000006.12:g.148334446_148334448dup, NC_000006.12:g.148334445_148334448dup, NC_000006.12:g.148334444_148334448dup, NC_000006.12:g.148334443_148334448dup, NC_000006.12:g.148334436_148334448dup, NC_000006.11:g.148655574_148655584del, NC_000006.11:g.148655577_148655584del, NC_000006.11:g.148655578_148655584del, NC_000006.11:g.148655580_148655584del, NC_000006.11:g.148655582_148655584del, NC_000006.11:g.148655583_148655584del, NC_000006.11:g.148655584del, NC_000006.11:g.148655584dup, NC_000006.11:g.148655583_148655584dup, NC_000006.11:g.148655582_148655584dup, NC_000006.11:g.148655581_148655584dup, NC_000006.11:g.148655580_148655584dup, NC_000006.11:g.148655579_148655584dup, NC_000006.11:g.148655572_148655584dup, NG_051927.1:g.67163_67173del, NG_051927.1:g.67166_67173del, NG_051927.1:g.67167_67173del, NG_051927.1:g.67169_67173del, NG_051927.1:g.67171_67173del, NG_051927.1:g.67172_67173del, NG_051927.1:g.67173del, NG_051927.1:g.67173dup, NG_051927.1:g.67172_67173dup, NG_051927.1:g.67171_67173dup, NG_051927.1:g.67170_67173dup, NG_051927.1:g.67169_67173dup, NG_051927.1:g.67168_67173dup, NG_051927.1:g.67161_67173dup

Select item 149151539018.

rs1491515390 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:148250572 (GRCh38)
6:148571708 (GRCh37)
Canonical SPDI:: NC_000006.12:148250571:TA:
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.148250572_148250573del, NC_000006.11:g.148571708_148571709del

Select item 149151480819.

rs1491514808 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGT [Show Flanks]
Chromosome:: 6:148517306 (GRCh38)
6:148838443 (GRCh37)
Canonical SPDI:: NC_000006.12:148517306:TGAGT:TGAGTGAGT
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGAGTGAGT=0./0 (ALFA)
TGAG=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.148517308_148517311dup, NC_000006.11:g.148838444_148838447dup, NG_051927.1:g.250033_250036dup

Select item 149150771820.

rs1491507718 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAGAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:148428630 (GRCh38)
6:148749767 (GRCh37)
Canonical SPDI:: NC_000006.12:148428630:AAAAAAAAAAAA:AAAAAAAAAAAAAGAGAAAAAAAAAAAA
Gene:: SASH1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.148428631_148428642A[13]GA[2]A[11], NC_000006.11:g.148749767_148749778A[13]GA[2]A[11], NG_051927.1:g.161356_161367A[13]GA[2]A[11]

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