SNP Links for Nucleotide (Select 1032200661) - SNP

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Select item 14915531131.

rs1491553113 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:101051364 (GRCh38)
7:100694645 (GRCh37)
Canonical SPDI:: NC_000007.14:101051363:CA:
Gene:: MUC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.101051364_101051365del, NC_000007.13:g.100694645_100694646del, NG_050729.1:g.36289_36290del

Select item 14915446112.

rs1491544611 has merged into rs11313515 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGG [Show Flanks]
Chromosome:: 7:101059102 (GRCh38)
7:100702383 (GRCh37)
Canonical SPDI:: NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000007.14:101059095:GGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG
Gene:: MUC17 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
GG=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.101059102_101059107del, NC_000007.14:g.101059103_101059107del, NC_000007.14:g.101059104_101059107del, NC_000007.14:g.101059105_101059107del, NC_000007.14:g.101059106_101059107del, NC_000007.14:g.101059107del, NC_000007.14:g.101059107dup, NC_000007.14:g.101059106_101059107dup, NC_000007.14:g.101059105_101059107dup, NC_000007.14:g.101059104_101059107dup, NC_000007.14:g.101059103_101059107dup, NC_000007.14:g.101059101_101059107dup, NC_000007.13:g.100702383_100702388del, NC_000007.13:g.100702384_100702388del, NC_000007.13:g.100702385_100702388del, NC_000007.13:g.100702386_100702388del, NC_000007.13:g.100702387_100702388del, NC_000007.13:g.100702388del, NC_000007.13:g.100702388dup, NC_000007.13:g.100702387_100702388dup, NC_000007.13:g.100702386_100702388dup, NC_000007.13:g.100702385_100702388dup, NC_000007.13:g.100702384_100702388dup, NC_000007.13:g.100702382_100702388dup, NG_050729.1:g.44027_44032del, NG_050729.1:g.44028_44032del, NG_050729.1:g.44029_44032del, NG_050729.1:g.44030_44032del, NG_050729.1:g.44031_44032del, NG_050729.1:g.44032del, NG_050729.1:g.44032dup, NG_050729.1:g.44031_44032dup, NG_050729.1:g.44030_44032dup, NG_050729.1:g.44029_44032dup, NG_050729.1:g.44028_44032dup, NG_050729.1:g.44026_44032dup

Select item 14915218293.

rs1491521829 has merged into rs757018078 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:101060648 (GRCh38)
7:100703929 (GRCh37)
Canonical SPDI:: NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101060639:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.101060648_101060658del, NC_000007.14:g.101060649_101060658del, NC_000007.14:g.101060650_101060658del, NC_000007.14:g.101060651_101060658del, NC_000007.14:g.101060652_101060658del, NC_000007.14:g.101060653_101060658del, NC_000007.14:g.101060654_101060658del, NC_000007.14:g.101060655_101060658del, NC_000007.14:g.101060656_101060658del, NC_000007.14:g.101060657_101060658del, NC_000007.14:g.101060658del, NC_000007.14:g.101060658dup, NC_000007.14:g.101060657_101060658dup, NC_000007.14:g.101060656_101060658dup, NC_000007.14:g.101060655_101060658dup, NC_000007.14:g.101060654_101060658dup, NC_000007.14:g.101060653_101060658dup, NC_000007.14:g.101060651_101060658dup, NC_000007.14:g.101060650_101060658dup, NC_000007.14:g.101060649_101060658dup, NC_000007.14:g.101060644_101060658dup, NC_000007.14:g.101060643_101060658dup, NC_000007.14:g.101060642_101060658dup, NC_000007.14:g.101060641_101060658dup, NC_000007.13:g.100703929_100703939del, NC_000007.13:g.100703930_100703939del, NC_000007.13:g.100703931_100703939del, NC_000007.13:g.100703932_100703939del, NC_000007.13:g.100703933_100703939del, NC_000007.13:g.100703934_100703939del, NC_000007.13:g.100703935_100703939del, NC_000007.13:g.100703936_100703939del, NC_000007.13:g.100703937_100703939del, NC_000007.13:g.100703938_100703939del, NC_000007.13:g.100703939del, NC_000007.13:g.100703939dup, NC_000007.13:g.100703938_100703939dup, NC_000007.13:g.100703937_100703939dup, NC_000007.13:g.100703936_100703939dup, NC_000007.13:g.100703935_100703939dup, NC_000007.13:g.100703934_100703939dup, NC_000007.13:g.100703932_100703939dup, NC_000007.13:g.100703931_100703939dup, NC_000007.13:g.100703930_100703939dup, NC_000007.13:g.100703925_100703939dup, NC_000007.13:g.100703924_100703939dup, NC_000007.13:g.100703923_100703939dup, NC_000007.13:g.100703922_100703939dup, NG_050729.1:g.45573_45583del, NG_050729.1:g.45574_45583del, NG_050729.1:g.45575_45583del, NG_050729.1:g.45576_45583del, NG_050729.1:g.45577_45583del, NG_050729.1:g.45578_45583del, NG_050729.1:g.45579_45583del, NG_050729.1:g.45580_45583del, NG_050729.1:g.45581_45583del, NG_050729.1:g.45582_45583del, NG_050729.1:g.45583del, NG_050729.1:g.45583dup, NG_050729.1:g.45582_45583dup, NG_050729.1:g.45581_45583dup, NG_050729.1:g.45580_45583dup, NG_050729.1:g.45579_45583dup, NG_050729.1:g.45578_45583dup, NG_050729.1:g.45576_45583dup, NG_050729.1:g.45575_45583dup, NG_050729.1:g.45574_45583dup, NG_050729.1:g.45569_45583dup, NG_050729.1:g.45568_45583dup, NG_050729.1:g.45567_45583dup, NG_050729.1:g.45566_45583dup

Select item 14914257074.

rs1491425707 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,C,T [Show Flanks]
Chromosome:: 7:101059096 (GRCh38)
7:100702378 (GRCh37)
Canonical SPDI:: NC_000007.14:101059096::A,NC_000007.14:101059096::C,NC_000007.14:101059096::T
Gene:: MUC17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.101059096_101059097insA, NC_000007.14:g.101059096_101059097insC, NC_000007.14:g.101059096_101059097insT, NC_000007.13:g.100702377_100702378insA, NC_000007.13:g.100702377_100702378insC, NC_000007.13:g.100702377_100702378insT, NG_050729.1:g.44021_44022insA, NG_050729.1:g.44021_44022insC, NG_050729.1:g.44021_44022insT

Select item 14913676875.

rs1491367687 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:101059065 (GRCh38)
7:100702347 (GRCh37)
Canonical SPDI:: NC_000007.14:101059065:C:CC
Gene:: MUC17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000007.14:g.101059066dup, NC_000007.13:g.100702347dup, NG_050729.1:g.43991dup

Select item 14913022266.

rs1491302226 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 7:101060640 (GRCh38)
7:100703922 (GRCh37)
Canonical SPDI:: NC_000007.14:101060640:T:TCT
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000008/2 (TOPMED)
TC=0.000106/2 (TOMMO)
HGVS:: NC_000007.14:g.101060641_101060642insCT, NC_000007.13:g.100703922_100703923insCT, NG_050729.1:g.45566_45567insCT

Select item 14912661347.

rs1491266134 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 7:101038867 (GRCh38)
7:100682148 (GRCh37)
Canonical SPDI:: NC_000007.14:101038866:GC:
Gene:: MUC17 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000008/1 (ExAC)
HGVS:: NC_000007.14:g.101038867_101038868del, NC_000007.13:g.100682148_100682149del, NG_050729.1:g.23792_23793del, NM_001040105.2:c.7451_7452del, NM_001040105.1:c.7451_7452del, NR_133665.2:n.7506_7507del, NR_133665.1:n.7504_7505del, NM_001004430.1:c.7451_7452del, NP_001035194.1:p.Ser2484fs

Select item 14912507498.

rs1491250749 has merged into rs398005597 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:101051374 (GRCh38)
7:100694655 (GRCh37)
Canonical SPDI:: NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:101051364:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MUC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0./0 (GENOME_DK)
HGVS:: NC_000007.14:g.101051374_101051389del, NC_000007.14:g.101051376_101051389del, NC_000007.14:g.101051377_101051389del, NC_000007.14:g.101051378_101051389del, NC_000007.14:g.101051379_101051389del, NC_000007.14:g.101051380_101051389del, NC_000007.14:g.101051381_101051389del, NC_000007.14:g.101051382_101051389del, NC_000007.14:g.101051383_101051389del, NC_000007.14:g.101051384_101051389del, NC_000007.14:g.101051386_101051389del, NC_000007.14:g.101051387_101051389del, NC_000007.14:g.101051388_101051389del, NC_000007.14:g.101051389del, NC_000007.14:g.101051389dup, NC_000007.14:g.101051388_101051389dup, NC_000007.14:g.101051387_101051389dup, NC_000007.14:g.101051386_101051389dup, NC_000007.14:g.101051385_101051389dup, NC_000007.14:g.101051384_101051389dup, NC_000007.14:g.101051383_101051389dup, NC_000007.14:g.101051382_101051389dup, NC_000007.14:g.101051381_101051389dup, NC_000007.14:g.101051376_101051389dup, NC_000007.13:g.100694655_100694670del, NC_000007.13:g.100694657_100694670del, NC_000007.13:g.100694658_100694670del, NC_000007.13:g.100694659_100694670del, NC_000007.13:g.100694660_100694670del, NC_000007.13:g.100694661_100694670del, NC_000007.13:g.100694662_100694670del, NC_000007.13:g.100694663_100694670del, NC_000007.13:g.100694664_100694670del, NC_000007.13:g.100694665_100694670del, NC_000007.13:g.100694667_100694670del, NC_000007.13:g.100694668_100694670del, NC_000007.13:g.100694669_100694670del, NC_000007.13:g.100694670del, NC_000007.13:g.100694670dup, NC_000007.13:g.100694669_100694670dup, NC_000007.13:g.100694668_100694670dup, NC_000007.13:g.100694667_100694670dup, NC_000007.13:g.100694666_100694670dup, NC_000007.13:g.100694665_100694670dup, NC_000007.13:g.100694664_100694670dup, NC_000007.13:g.100694663_100694670dup, NC_000007.13:g.100694662_100694670dup, NC_000007.13:g.100694657_100694670dup, NG_050729.1:g.36299_36314del, NG_050729.1:g.36301_36314del, NG_050729.1:g.36302_36314del, NG_050729.1:g.36303_36314del, NG_050729.1:g.36304_36314del, NG_050729.1:g.36305_36314del, NG_050729.1:g.36306_36314del, NG_050729.1:g.36307_36314del, NG_050729.1:g.36308_36314del, NG_050729.1:g.36309_36314del, NG_050729.1:g.36311_36314del, NG_050729.1:g.36312_36314del, NG_050729.1:g.36313_36314del, NG_050729.1:g.36314del, NG_050729.1:g.36314dup, NG_050729.1:g.36313_36314dup, NG_050729.1:g.36312_36314dup, NG_050729.1:g.36311_36314dup, NG_050729.1:g.36310_36314dup, NG_050729.1:g.36309_36314dup, NG_050729.1:g.36308_36314dup, NG_050729.1:g.36307_36314dup, NG_050729.1:g.36306_36314dup, NG_050729.1:g.36301_36314dup

Select item 14910264329.

rs1491026432 has merged into rs57980303 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:101030244 (GRCh38)
7:100673525 (GRCh37)
Canonical SPDI:: NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:101030230:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MUC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3576/1791 (1000Genomes)
HGVS:: NC_000007.14:g.101030244_101030246del, NC_000007.14:g.101030245_101030246del, NC_000007.14:g.101030246del, NC_000007.14:g.101030246dup, NC_000007.14:g.101030245_101030246dup, NC_000007.14:g.101030244_101030246dup, NC_000007.14:g.101030243_101030246dup, NC_000007.14:g.101030242_101030246dup, NC_000007.14:g.101030240_101030246dup, NC_000007.14:g.101030238_101030246dup, NC_000007.14:g.101030237_101030246dup, NC_000007.14:g.101030236_101030246dup, NC_000007.14:g.101030234_101030246dup, NC_000007.13:g.100673525_100673527del, NC_000007.13:g.100673526_100673527del, NC_000007.13:g.100673527del, NC_000007.13:g.100673527dup, NC_000007.13:g.100673526_100673527dup, NC_000007.13:g.100673525_100673527dup, NC_000007.13:g.100673524_100673527dup, NC_000007.13:g.100673523_100673527dup, NC_000007.13:g.100673521_100673527dup, NC_000007.13:g.100673519_100673527dup, NC_000007.13:g.100673518_100673527dup, NC_000007.13:g.100673517_100673527dup, NC_000007.13:g.100673515_100673527dup, NG_050729.1:g.15169_15171del, NG_050729.1:g.15170_15171del, NG_050729.1:g.15171del, NG_050729.1:g.15171dup, NG_050729.1:g.15170_15171dup, NG_050729.1:g.15169_15171dup, NG_050729.1:g.15168_15171dup, NG_050729.1:g.15167_15171dup, NG_050729.1:g.15165_15171dup, NG_050729.1:g.15163_15171dup, NG_050729.1:g.15162_15171dup, NG_050729.1:g.15161_15171dup, NG_050729.1:g.15159_15171dup

Select item 149094833610.

rs1490948336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101048018 (GRCh38)
7:100691299 (GRCh37)
Canonical SPDI:: NC_000007.14:101048017:C:T
Gene:: MUC17 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.101048018C>T, NC_000007.13:g.100691299C>T, NG_050729.1:g.32943C>T, NM_001040105.2:c.12438C>T, NM_001040105.1:c.12438C>T, NR_133665.2:n.12493C>T, NR_133665.1:n.12491C>T, NM_001004430.1:c.12438C>T

Select item 149092565911.

rs1490925659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:101036627 (GRCh38)
7:100679908 (GRCh37)
Canonical SPDI:: NC_000007.14:101036626:C:A
Gene:: MUC17 (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000007.14:g.101036627C>A, NC_000007.13:g.100679908C>A, NG_050729.1:g.21552C>A, NM_001040105.2:c.5211C>A, NM_001040105.1:c.5211C>A, NR_133665.2:n.5266C>A, NR_133665.1:n.5264C>A, NM_001004430.1:c.5211C>A

Select item 149071425612.

rs1490714256 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101040199 (GRCh38)
7:100683480 (GRCh37)
Canonical SPDI:: NC_000007.14:101040198:C:T
Gene:: MUC17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101040199C>T, NC_000007.13:g.100683480C>T, NG_050729.1:g.25124C>T, NM_001040105.2:c.8783C>T, NM_001040105.1:c.8783C>T, NR_133665.2:n.8838C>T, NR_133665.1:n.8836C>T, NM_001004430.1:c.8783C>T, NP_001035194.1:p.Thr2928Ile

Select item 149069896513.

rs1490698965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101020155 (GRCh38)
7:100663436 (GRCh37)
Canonical SPDI:: NC_000007.14:101020154:T:C
Gene:: MUC17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101020155T>C, NC_000007.13:g.100663436T>C, NG_053126.1:g.55533T>C, NG_050729.1:g.5080T>C, NM_001040105.2:c.20T>C, NM_001040105.1:c.20T>C, NR_133665.2:n.75T>C, NR_133665.1:n.73T>C, NM_001004430.1:c.20T>C, NP_001035194.1:p.Met7Thr

Select item 149065829014.

rs1490658290 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101041639 (GRCh38)
7:100684920 (GRCh37)
Canonical SPDI:: NC_000007.14:101041638:C:T
Gene:: MUC17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101041639C>T, NC_000007.13:g.100684920C>T, NG_050729.1:g.26564C>T, NM_001040105.2:c.10223C>T, NM_001040105.1:c.10223C>T, NR_133665.2:n.10278C>T, NR_133665.1:n.10276C>T, NM_001004430.1:c.10223C>T, NP_001035194.1:p.Thr3408Ile

Select item 149048533315.

rs1490485333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:101051255 (GRCh38)
7:100694536 (GRCh37)
Canonical SPDI:: NC_000007.14:101051254:C:T
Gene:: MUC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.101051255C>T, NC_000007.13:g.100694536C>T, NG_050729.1:g.36180C>T

Select item 149047854316.

rs1490478543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101026248 (GRCh38)
7:100669529 (GRCh37)
Canonical SPDI:: NC_000007.14:101026247:T:C
Gene:: MUC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.101026248T>C, NC_000007.13:g.100669529T>C, NG_050729.1:g.11173T>C

Select item 149030836917.

rs1490308369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:101043057 (GRCh38)
7:100686338 (GRCh37)
Canonical SPDI:: NC_000007.14:101043056:G:T
Gene:: MUC17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.101043057G>T, NC_000007.13:g.100686338G>T, NG_050729.1:g.27982G>T, NM_001040105.2:c.11641G>T, NM_001040105.1:c.11641G>T, NR_133665.2:n.11696G>T, NR_133665.1:n.11694G>T, NM_001004430.1:c.11641G>T, NP_001035194.1:p.Val3881Phe

Select item 149022528318.

rs1490225283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:101039960 (GRCh38)
7:100683241 (GRCh37)
Canonical SPDI:: NC_000007.14:101039959:T:A
Gene:: MUC17 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.101039960T>A, NC_000007.13:g.100683241T>A, NG_050729.1:g.24885T>A, NM_001040105.2:c.8544T>A, NM_001040105.1:c.8544T>A, NR_133665.2:n.8599T>A, NR_133665.1:n.8597T>A, NM_001004430.1:c.8544T>A, NP_001035194.1:p.Ser2848Arg

Select item 149015970719.

rs1490159707 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGAGAGAGAGAG>- [Show Flanks]
Chromosome:: 7:101059104 (GRCh38)
7:100702385 (GRCh37)
Canonical SPDI:: NC_000007.14:101059102:GGGGGAGAGAGAGAG:G
Gene:: MUC17 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.00005/4 (GnomAD)
HGVS:: NC_000007.14:g.101059104_101059117del, NC_000007.13:g.100702385_100702398del, NG_050729.1:g.44029_44042del

Select item 149015947320.

rs1490159473 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:101049030 (GRCh38)
7:100692311 (GRCh37)
Canonical SPDI:: NC_000007.14:101049029:T:C
Gene:: MUC17 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.101049030T>C, NC_000007.13:g.100692311T>C, NG_050729.1:g.33955T>C

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