SNP Links for Gene (Select 667) - SNP

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Select item 14915890991.

rs1491589099 has merged into rs34196579 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 6:56667824 (GRCh38)
6:56532622 (GRCh37)
Canonical SPDI:: NC_000006.12:56667811:TATATATATATATATATA:TATATATATATA,NC_000006.12:56667811:TATATATATATATATATA:TATATATATATATA,NC_000006.12:56667811:TATATATATATATATATA:TATATATATATATATA,NC_000006.12:56667811:TATATATATATATATATA:TATATATATATATATATATA,NC_000006.12:56667811:TATATATATATATATATA:TATATATATATATATATATATA,NC_000006.12:56667811:TATATATATATATATATA:TATATATATATATATATATATATA
Gene:: DST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATA=0.00026/4 (ALFA)
TA=0.015/9 (NorthernSweden)
TA=0.025/1 (GENOME_DK)
-=0.0685/254 (TWINSUK)
TA=0.07268/364 (1000Genomes)
-=0.09678/373 (ALSPAC)
HGVS:: NC_000006.12:g.56667812TA[6], NC_000006.12:g.56667812TA[7], NC_000006.12:g.56667812TA[8], NC_000006.12:g.56667812TA[10], NC_000006.12:g.56667812TA[11], NC_000006.12:g.56667812TA[12], NC_000006.11:g.56532610TA[6], NC_000006.11:g.56532610TA[7], NC_000006.11:g.56532610TA[8], NC_000006.11:g.56532610TA[10], NC_000006.11:g.56532610TA[11], NC_000006.11:g.56532610TA[12], NG_029322.2:g.291800TA[6], NG_029322.2:g.291800TA[7], NG_029322.2:g.291800TA[8], NG_029322.2:g.291800TA[10], NG_029322.2:g.291800TA[11], NG_029322.2:g.291800TA[12]

Select item 14915884062.

rs1491588406 has merged into rs34159658 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:56947262 (GRCh38)
6:56812060 (GRCh37)
Canonical SPDI:: NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56947250:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.4762/2385 (1000Genomes)
HGVS:: NC_000006.12:g.56947262_56947267del, NC_000006.12:g.56947264_56947267del, NC_000006.12:g.56947265_56947267del, NC_000006.12:g.56947266_56947267del, NC_000006.12:g.56947267del, NC_000006.12:g.56947267dup, NC_000006.12:g.56947266_56947267dup, NC_000006.12:g.56947265_56947267dup, NC_000006.12:g.56947264_56947267dup, NC_000006.12:g.56947263_56947267dup, NC_000006.12:g.56947261_56947267dup, NC_000006.12:g.56947258_56947267dup, NC_000006.12:g.56947254_56947267dup, NC_000006.11:g.56812060_56812065del, NC_000006.11:g.56812062_56812065del, NC_000006.11:g.56812063_56812065del, NC_000006.11:g.56812064_56812065del, NC_000006.11:g.56812065del, NC_000006.11:g.56812065dup, NC_000006.11:g.56812064_56812065dup, NC_000006.11:g.56812063_56812065dup, NC_000006.11:g.56812062_56812065dup, NC_000006.11:g.56812061_56812065dup, NC_000006.11:g.56812059_56812065dup, NC_000006.11:g.56812056_56812065dup, NC_000006.11:g.56812052_56812065dup, NG_029322.2:g.12373_12378del, NG_029322.2:g.12375_12378del, NG_029322.2:g.12376_12378del, NG_029322.2:g.12377_12378del, NG_029322.2:g.12378del, NG_029322.2:g.12378dup, NG_029322.2:g.12377_12378dup, NG_029322.2:g.12376_12378dup, NG_029322.2:g.12375_12378dup, NG_029322.2:g.12374_12378dup, NG_029322.2:g.12372_12378dup, NG_029322.2:g.12369_12378dup, NG_029322.2:g.12365_12378dup

Select item 14915843333.

rs1491584333 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:56625972 (GRCh38)
6:56490770 (GRCh37)
Canonical SPDI:: NC_000006.12:56625971:TA:
Gene:: DST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.56625972_56625973del, NC_000006.11:g.56490770_56490771del, NG_029322.2:g.333656_333657del

Select item 14915698504.

rs1491569850 has merged into rs55782325 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:56918143 (GRCh38)
6:56782941 (GRCh37)
Canonical SPDI:: NC_000006.12:56918133:TTTTTTTTTTT:TTTTTTTTT,NC_000006.12:56918133:TTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:56918133:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:56918133:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:56918133:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:56918133:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: DST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0.00014/2 (ALFA)
-=0.15/6 (GENOME_DK)
T=0.16293/109 (1000Genomes)
-=0.18915/729 (ALSPAC)
-=0.19822/735 (TWINSUK)
-=0.19833/119 (NorthernSweden)
-=0.20441/204 (GoNL)
HGVS:: NC_000006.12:g.56918143_56918144del, NC_000006.12:g.56918144del, NC_000006.12:g.56918144dup, NC_000006.12:g.56918143_56918144dup, NC_000006.12:g.56918137_56918144dup, NC_000006.12:g.56918144_56918145insTTTTTTTTTTTT, NC_000006.11:g.56782941_56782942del, NC_000006.11:g.56782942del, NC_000006.11:g.56782942dup, NC_000006.11:g.56782941_56782942dup, NC_000006.11:g.56782935_56782942dup, NC_000006.11:g.56782942_56782943insTTTTTTTTTTTT, NG_029322.2:g.41494_41495del, NG_029322.2:g.41495del, NG_029322.2:g.41495dup, NG_029322.2:g.41494_41495dup, NG_029322.2:g.41488_41495dup, NG_029322.2:g.41495_41496insAAAAAAAAAAAA

Select item 14915654615.

rs1491565461 has merged into rs76788667 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAATAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAACAAAAAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:56625988 (GRCh38)
6:56490786 (GRCh37)
Canonical SPDI:: NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56625972:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAACAAAAAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000006.12:g.56625988_56625990del, NC_000006.12:g.56625989_56625990del, NC_000006.12:g.56625990del, NC_000006.12:g.56625990dup, NC_000006.12:g.56625989_56625990dup, NC_000006.12:g.56625988_56625990dup, NC_000006.12:g.56625987_56625990dup, NC_000006.12:g.56625985_56625990dup, NC_000006.12:g.56625984_56625990dup, NC_000006.12:g.56625983_56625990dup, NC_000006.12:g.56625982_56625990dup, NC_000006.12:g.56625981_56625990dup, NC_000006.12:g.56625980_56625990dup, NC_000006.12:g.56625975_56625990dup, NC_000006.12:g.56625973_56625990A[28]TAAAAAAAAAAAAAAAAA[2]A[12], NC_000006.12:g.56625973_56625990A[19]CAAAAAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000006.11:g.56490786_56490788del, NC_000006.11:g.56490787_56490788del, NC_000006.11:g.56490788del, NC_000006.11:g.56490788dup, NC_000006.11:g.56490787_56490788dup, NC_000006.11:g.56490786_56490788dup, NC_000006.11:g.56490785_56490788dup, NC_000006.11:g.56490783_56490788dup, NC_000006.11:g.56490782_56490788dup, NC_000006.11:g.56490781_56490788dup, NC_000006.11:g.56490780_56490788dup, NC_000006.11:g.56490779_56490788dup, NC_000006.11:g.56490778_56490788dup, NC_000006.11:g.56490773_56490788dup, NC_000006.11:g.56490771_56490788A[28]TAAAAAAAAAAAAAAAAA[2]A[12], NC_000006.11:g.56490771_56490788A[19]CAAAAAATAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029322.2:g.333654_333656del, NG_029322.2:g.333655_333656del, NG_029322.2:g.333656del, NG_029322.2:g.333656dup, NG_029322.2:g.333655_333656dup, NG_029322.2:g.333654_333656dup, NG_029322.2:g.333653_333656dup, NG_029322.2:g.333651_333656dup, NG_029322.2:g.333650_333656dup, NG_029322.2:g.333649_333656dup, NG_029322.2:g.333648_333656dup, NG_029322.2:g.333647_333656dup, NG_029322.2:g.333646_333656dup, NG_029322.2:g.333641_333656dup, NG_029322.2:g.333639_333656T[29]ATTTTTTTTTTTTTTTTT[2]T[11], NG_029322.2:g.333639_333656T[26]AATTTTTTTTTTTTTTTTATTTTTTGTTTTTTTTTTTTTTTTTTT[1]

Select item 14915556136.

rs1491555613 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TGG,TGGG,TTG [Show Flanks]
Chromosome:: 6:56897305 (GRCh38)
6:56762104 (GRCh37)
Canonical SPDI:: NC_000006.12:56897305::TG,NC_000006.12:56897305::TGG,NC_000006.12:56897305::TGGG,NC_000006.12:56897305::TTG
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGG=0./0 (ALFA)
HGVS:: NC_000006.12:g.56897305_56897306insTG, NC_000006.12:g.56897305_56897306insTGG, NC_000006.12:g.56897305_56897306insTGGG, NC_000006.12:g.56897305_56897306insTTG, NC_000006.11:g.56762103_56762104insTG, NC_000006.11:g.56762103_56762104insTGG, NC_000006.11:g.56762103_56762104insTGGG, NC_000006.11:g.56762103_56762104insTTG, NG_029322.2:g.62323_62324insCA, NG_029322.2:g.62323_62324insCCA, NG_029322.2:g.62323_62324insCCCA, NG_029322.2:g.62323_62324insCAA

Select item 14915481487.

rs1491548148 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:56486362 (GRCh38)
6:56351160 (GRCh37)
Canonical SPDI:: NC_000006.12:56486361:CA:
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.56486362_56486363del, NC_000006.11:g.56351160_56351161del, NG_029322.2:g.473266_473267del

Select item 14915480628.

rs1491548062 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAAAT,T [Show Flanks]
Chromosome:: 6:56542455 (GRCh38)
6:56407254 (GRCh37)
Canonical SPDI:: NC_000006.12:56542455::AAAAT,NC_000006.12:56542455::T
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.56542455_56542456insAAAAT, NC_000006.12:g.56542455_56542456insT, NC_000006.11:g.56407253_56407254insAAAAT, NC_000006.11:g.56407253_56407254insT, NG_029322.2:g.417173_417174insATTTT, NG_029322.2:g.417173_417174insA

Select item 14915318419.

rs1491531841 has merged into rs61164880 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:56486371 (GRCh38)
6:56351169 (GRCh37)
Canonical SPDI:: NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56486362:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DST (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.56486371_56486387del, NC_000006.12:g.56486373_56486387del, NC_000006.12:g.56486374_56486387del, NC_000006.12:g.56486375_56486387del, NC_000006.12:g.56486376_56486387del, NC_000006.12:g.56486377_56486387del, NC_000006.12:g.56486378_56486387del, NC_000006.12:g.56486379_56486387del, NC_000006.12:g.56486380_56486387del, NC_000006.12:g.56486381_56486387del, NC_000006.12:g.56486382_56486387del, NC_000006.12:g.56486383_56486387del, NC_000006.12:g.56486384_56486387del, NC_000006.12:g.56486385_56486387del, NC_000006.12:g.56486386_56486387del, NC_000006.12:g.56486387del, NC_000006.12:g.56486387dup, NC_000006.12:g.56486386_56486387dup, NC_000006.12:g.56486385_56486387dup, NC_000006.12:g.56486384_56486387dup, NC_000006.12:g.56486383_56486387dup, NC_000006.12:g.56486382_56486387dup, NC_000006.12:g.56486380_56486387dup, NC_000006.12:g.56486379_56486387dup, NC_000006.11:g.56351169_56351185del, NC_000006.11:g.56351171_56351185del, NC_000006.11:g.56351172_56351185del, NC_000006.11:g.56351173_56351185del, NC_000006.11:g.56351174_56351185del, NC_000006.11:g.56351175_56351185del, NC_000006.11:g.56351176_56351185del, NC_000006.11:g.56351177_56351185del, NC_000006.11:g.56351178_56351185del, NC_000006.11:g.56351179_56351185del, NC_000006.11:g.56351180_56351185del, NC_000006.11:g.56351181_56351185del, NC_000006.11:g.56351182_56351185del, NC_000006.11:g.56351183_56351185del, NC_000006.11:g.56351184_56351185del, NC_000006.11:g.56351185del, NC_000006.11:g.56351185dup, NC_000006.11:g.56351184_56351185dup, NC_000006.11:g.56351183_56351185dup, NC_000006.11:g.56351182_56351185dup, NC_000006.11:g.56351181_56351185dup, NC_000006.11:g.56351180_56351185dup, NC_000006.11:g.56351178_56351185dup, NC_000006.11:g.56351177_56351185dup, NG_029322.2:g.473250_473266del, NG_029322.2:g.473252_473266del, NG_029322.2:g.473253_473266del, NG_029322.2:g.473254_473266del, NG_029322.2:g.473255_473266del, NG_029322.2:g.473256_473266del, NG_029322.2:g.473257_473266del, NG_029322.2:g.473258_473266del, NG_029322.2:g.473259_473266del, NG_029322.2:g.473260_473266del, NG_029322.2:g.473261_473266del, NG_029322.2:g.473262_473266del, NG_029322.2:g.473263_473266del, NG_029322.2:g.473264_473266del, NG_029322.2:g.473265_473266del, NG_029322.2:g.473266del, NG_029322.2:g.473266dup, NG_029322.2:g.473265_473266dup, NG_029322.2:g.473264_473266dup, NG_029322.2:g.473263_473266dup, NG_029322.2:g.473262_473266dup, NG_029322.2:g.473261_473266dup, NG_029322.2:g.473259_473266dup, NG_029322.2:g.473258_473266dup

Select item 149152418510.

rs1491524185 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:56698329 (GRCh38)
6:56563127 (GRCh37)
Canonical SPDI:: NC_000006.12:56698328:AT:
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000006.12:g.56698329_56698330del, NC_000006.11:g.56563127_56563128del, NG_029322.2:g.261299_261300del

Select item 149152119611.

rs1491521196 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:56542428 (GRCh38)
6:56407226 (GRCh37)
Canonical SPDI:: NC_000006.12:56542427:TA:
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.56542428_56542429del, NC_000006.11:g.56407226_56407227del, NG_029322.2:g.417200_417201del

Select item 149150748612.

rs1491507486 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:56622569 (GRCh38)
6:56487367 (GRCh37)
Canonical SPDI:: NC_000006.12:56622568:CA:
Gene:: DST (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.007/83 (ALFA)
-=0.0003/13 (GnomAD)
-=0.00177/30 (TOMMO)
HGVS:: NC_000006.12:g.56622569_56622570del, NC_000006.11:g.56487367_56487368del, NG_029322.2:g.337059_337060del

Select item 149148971313.

rs1491489713 has merged into rs781369739 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:56788138 (GRCh38)
6:56652936 (GRCh37)
Canonical SPDI:: NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56788128:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAA=0./0 (GENOME_DK)
-=0.0096/4 (NorthernSweden)
HGVS:: NC_000006.12:g.56788138_56788155del, NC_000006.12:g.56788142_56788155del, NC_000006.12:g.56788143_56788155del, NC_000006.12:g.56788144_56788155del, NC_000006.12:g.56788145_56788155del, NC_000006.12:g.56788146_56788155del, NC_000006.12:g.56788147_56788155del, NC_000006.12:g.56788148_56788155del, NC_000006.12:g.56788149_56788155del, NC_000006.12:g.56788150_56788155del, NC_000006.12:g.56788151_56788155del, NC_000006.12:g.56788152_56788155del, NC_000006.12:g.56788153_56788155del, NC_000006.12:g.56788154_56788155del, NC_000006.12:g.56788155del, NC_000006.12:g.56788155dup, NC_000006.12:g.56788154_56788155dup, NC_000006.12:g.56788153_56788155dup, NC_000006.12:g.56788152_56788155dup, NC_000006.12:g.56788151_56788155dup, NC_000006.12:g.56788150_56788155dup, NC_000006.12:g.56788149_56788155dup, NC_000006.12:g.56788148_56788155dup, NC_000006.12:g.56788147_56788155dup, NC_000006.12:g.56788146_56788155dup, NC_000006.12:g.56788145_56788155dup, NC_000006.12:g.56788144_56788155dup, NC_000006.11:g.56652936_56652953del, NC_000006.11:g.56652940_56652953del, NC_000006.11:g.56652941_56652953del, NC_000006.11:g.56652942_56652953del, NC_000006.11:g.56652943_56652953del, NC_000006.11:g.56652944_56652953del, NC_000006.11:g.56652945_56652953del, NC_000006.11:g.56652946_56652953del, NC_000006.11:g.56652947_56652953del, NC_000006.11:g.56652948_56652953del, NC_000006.11:g.56652949_56652953del, NC_000006.11:g.56652950_56652953del, NC_000006.11:g.56652951_56652953del, NC_000006.11:g.56652952_56652953del, NC_000006.11:g.56652953del, NC_000006.11:g.56652953dup, NC_000006.11:g.56652952_56652953dup, NC_000006.11:g.56652951_56652953dup, NC_000006.11:g.56652950_56652953dup, NC_000006.11:g.56652949_56652953dup, NC_000006.11:g.56652948_56652953dup, NC_000006.11:g.56652947_56652953dup, NC_000006.11:g.56652946_56652953dup, NC_000006.11:g.56652945_56652953dup, NC_000006.11:g.56652944_56652953dup, NC_000006.11:g.56652943_56652953dup, NC_000006.11:g.56652942_56652953dup, NG_029322.2:g.171483_171500del, NG_029322.2:g.171487_171500del, NG_029322.2:g.171488_171500del, NG_029322.2:g.171489_171500del, NG_029322.2:g.171490_171500del, NG_029322.2:g.171491_171500del, NG_029322.2:g.171492_171500del, NG_029322.2:g.171493_171500del, NG_029322.2:g.171494_171500del, NG_029322.2:g.171495_171500del, NG_029322.2:g.171496_171500del, NG_029322.2:g.171497_171500del, NG_029322.2:g.171498_171500del, NG_029322.2:g.171499_171500del, NG_029322.2:g.171500del, NG_029322.2:g.171500dup, NG_029322.2:g.171499_171500dup, NG_029322.2:g.171498_171500dup, NG_029322.2:g.171497_171500dup, NG_029322.2:g.171496_171500dup, NG_029322.2:g.171495_171500dup, NG_029322.2:g.171494_171500dup, NG_029322.2:g.171493_171500dup, NG_029322.2:g.171492_171500dup, NG_029322.2:g.171491_171500dup, NG_029322.2:g.171490_171500dup, NG_029322.2:g.171489_171500dup

Select item 149147920614.

rs1491479206 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:56891565 (GRCh38)
6:56756363 (GRCh37)
Canonical SPDI:: NC_000006.12:56891564:CA:
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000006.12:g.56891565_56891566del, NC_000006.11:g.56756363_56756364del, NG_029322.2:g.68063_68064del

Select item 149146761515.

rs1491467615 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATATATATATATATATATAATATATATA [Show Flanks]
Chromosome:: 6:56654587 (GRCh38)
6:56519386 (GRCh37)
Canonical SPDI:: NC_000006.12:56654587::TATATATATATATATATATAATATATATA
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000006.12:g.56654587_56654588insTATATATATATATATATATAATATATATA, NC_000006.11:g.56519385_56519386insTATATATATATATATATATAATATATATA, NG_029322.2:g.305041_305042insTATATATATTATATATATATATATATATA

Select item 149146747216.

rs1491467472 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:56886776 (GRCh38)
6:56751574 (GRCh37)
Canonical SPDI:: NC_000006.12:56886775:CA:
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.56886776_56886777del, NC_000006.11:g.56751574_56751575del, NG_029322.2:g.72852_72853del

Select item 149144774917.

rs1491447749 has merged into rs70989736 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:56850419 (GRCh38)
6:56715217 (GRCh37)
Canonical SPDI:: NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:56850409:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: DST (Varview), DST-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.56850419_56850427del, NC_000006.12:g.56850420_56850427del, NC_000006.12:g.56850421_56850427del, NC_000006.12:g.56850422_56850427del, NC_000006.12:g.56850424_56850427del, NC_000006.12:g.56850425_56850427del, NC_000006.12:g.56850426_56850427del, NC_000006.12:g.56850427del, NC_000006.12:g.56850427dup, NC_000006.12:g.56850426_56850427dup, NC_000006.12:g.56850425_56850427dup, NC_000006.12:g.56850424_56850427dup, NC_000006.11:g.56715217_56715225del, NC_000006.11:g.56715218_56715225del, NC_000006.11:g.56715219_56715225del, NC_000006.11:g.56715220_56715225del, NC_000006.11:g.56715222_56715225del, NC_000006.11:g.56715223_56715225del, NC_000006.11:g.56715224_56715225del, NC_000006.11:g.56715225del, NC_000006.11:g.56715225dup, NC_000006.11:g.56715224_56715225dup, NC_000006.11:g.56715223_56715225dup, NC_000006.11:g.56715222_56715225dup, NG_029322.2:g.109211_109219del, NG_029322.2:g.109212_109219del, NG_029322.2:g.109213_109219del, NG_029322.2:g.109214_109219del, NG_029322.2:g.109216_109219del, NG_029322.2:g.109217_109219del, NG_029322.2:g.109218_109219del, NG_029322.2:g.109219del, NG_029322.2:g.109219dup, NG_029322.2:g.109218_109219dup, NG_029322.2:g.109217_109219dup, NG_029322.2:g.109216_109219dup

Select item 149144500118.

rs1491445001 has merged into rs200681543 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:56801761 (GRCh38)
6:56666559 (GRCh37)
Canonical SPDI:: NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:56801747:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000079/21 (TOPMED)
HGVS:: NC_000006.12:g.56801761_56801767del, NC_000006.12:g.56801762_56801767del, NC_000006.12:g.56801763_56801767del, NC_000006.12:g.56801765_56801767del, NC_000006.12:g.56801766_56801767del, NC_000006.12:g.56801767del, NC_000006.12:g.56801767dup, NC_000006.12:g.56801766_56801767dup, NC_000006.12:g.56801765_56801767dup, NC_000006.12:g.56801764_56801767dup, NC_000006.12:g.56801763_56801767dup, NC_000006.12:g.56801762_56801767dup, NC_000006.12:g.56801760_56801767dup, NC_000006.11:g.56666559_56666565del, NC_000006.11:g.56666560_56666565del, NC_000006.11:g.56666561_56666565del, NC_000006.11:g.56666563_56666565del, NC_000006.11:g.56666564_56666565del, NC_000006.11:g.56666565del, NC_000006.11:g.56666565dup, NC_000006.11:g.56666564_56666565dup, NC_000006.11:g.56666563_56666565dup, NC_000006.11:g.56666562_56666565dup, NC_000006.11:g.56666561_56666565dup, NC_000006.11:g.56666560_56666565dup, NC_000006.11:g.56666558_56666565dup, NG_029322.2:g.157875_157881del, NG_029322.2:g.157876_157881del, NG_029322.2:g.157877_157881del, NG_029322.2:g.157879_157881del, NG_029322.2:g.157880_157881del, NG_029322.2:g.157881del, NG_029322.2:g.157881dup, NG_029322.2:g.157880_157881dup, NG_029322.2:g.157879_157881dup, NG_029322.2:g.157878_157881dup, NG_029322.2:g.157877_157881dup, NG_029322.2:g.157876_157881dup, NG_029322.2:g.157874_157881dup

Select item 149143650719.

rs1491436507 has merged into rs70989723 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:56670148 (GRCh38)
6:56534946 (GRCh37)
Canonical SPDI:: NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:56670133:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DST (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
-=0.3277/1641 (1000Genomes)
HGVS:: NC_000006.12:g.56670134GT[7], NC_000006.12:g.56670134GT[8], NC_000006.12:g.56670134GT[10], NC_000006.12:g.56670134GT[11], NC_000006.12:g.56670134GT[12], NC_000006.12:g.56670134GT[13], NC_000006.12:g.56670134GT[14], NC_000006.12:g.56670134GT[15], NC_000006.12:g.56670134GT[16], NC_000006.12:g.56670134GT[17], NC_000006.12:g.56670134GT[18], NC_000006.12:g.56670134GT[19], NC_000006.12:g.56670134GT[21], NC_000006.12:g.56670134GT[22], NC_000006.12:g.56670134GT[23], NC_000006.12:g.56670134GT[24], NC_000006.12:g.56670134GT[25], NC_000006.12:g.56670134GT[26], NC_000006.12:g.56670134GT[27], NC_000006.12:g.56670134GT[28], NC_000006.12:g.56670134GT[29], NC_000006.11:g.56534932GT[7], NC_000006.11:g.56534932GT[8], NC_000006.11:g.56534932GT[10], NC_000006.11:g.56534932GT[11], NC_000006.11:g.56534932GT[12], NC_000006.11:g.56534932GT[13], NC_000006.11:g.56534932GT[14], NC_000006.11:g.56534932GT[15], NC_000006.11:g.56534932GT[16], NC_000006.11:g.56534932GT[17], NC_000006.11:g.56534932GT[18], NC_000006.11:g.56534932GT[19], NC_000006.11:g.56534932GT[21], NC_000006.11:g.56534932GT[22], NC_000006.11:g.56534932GT[23], NC_000006.11:g.56534932GT[24], NC_000006.11:g.56534932GT[25], NC_000006.11:g.56534932GT[26], NC_000006.11:g.56534932GT[27], NC_000006.11:g.56534932GT[28], NC_000006.11:g.56534932GT[29], NG_029322.2:g.289456AC[7], NG_029322.2:g.289456AC[8], NG_029322.2:g.289456AC[10], NG_029322.2:g.289456AC[11], NG_029322.2:g.289456AC[12], NG_029322.2:g.289456AC[13], NG_029322.2:g.289456AC[14], NG_029322.2:g.289456AC[15], NG_029322.2:g.289456AC[16], NG_029322.2:g.289456AC[17], NG_029322.2:g.289456AC[18], NG_029322.2:g.289456AC[19], NG_029322.2:g.289456AC[21], NG_029322.2:g.289456AC[22], NG_029322.2:g.289456AC[23], NG_029322.2:g.289456AC[24], NG_029322.2:g.289456AC[25], NG_029322.2:g.289456AC[26], NG_029322.2:g.289456AC[27], NG_029322.2:g.289456AC[28], NG_029322.2:g.289456AC[29]

Select item 149143265020.

rs1491432650 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 6:56801748 (GRCh38)
6:56666547 (GRCh37)
Canonical SPDI:: NC_000006.12:56801748:TT:TTATT
Gene:: DST (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATT=0./0 (ALFA)
TTA=0.000004/1 (TOPMED)
TTA=0.000013/1 (GnomAD)
HGVS:: NC_000006.12:g.56801750_56801751insATT, NC_000006.11:g.56666548_56666549insATT, NG_029322.2:g.157880_157881insTAA

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dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

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