SNP Links for Gene (Select 4356) - SNP

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Select item 14914786381.

rs1491478638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:43828570 (GRCh38)
17:41905939 (GRCh37)
Canonical SPDI:: NC_000017.11:43828570:A:AA
Gene:: MPP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43828571dup, NC_000017.10:g.41905939dup

Select item 14914435972.

rs1491443597 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 17:43828162 (GRCh38)
17:41905530 (GRCh37)
Canonical SPDI:: NC_000017.11:43828155:TCTCTCTC:TCTCTC
Gene:: MPP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.43828156TC[3], NC_000017.10:g.41905524TC[3]

Select item 14914279913.

rs1491427991 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAAAAA [Show Flanks]
Chromosome:: 17:43822679 (GRCh38)
17:41900048 (GRCh37)
Canonical SPDI:: NC_000017.11:43822679:AAAAAAAAA:AAAAAAAAAGAAAAAAAAA
Gene:: MPP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAAGAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAG=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.43822680_43822688A[9]GAAAAAAAAA[1], NC_000017.10:g.41900048_41900056A[9]GAAAAAAAAA[1]

Select item 14913582094.

rs1491358209 has merged into rs56125167 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:43822684 (GRCh38)
17:41900052 (GRCh37)
Canonical SPDI:: NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:43822678:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MPP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.0349/175 (1000Genomes)
HGVS:: NC_000017.11:g.43822684_43822694del, NC_000017.11:g.43822689_43822694del, NC_000017.11:g.43822690_43822694del, NC_000017.11:g.43822691_43822694del, NC_000017.11:g.43822692_43822694del, NC_000017.11:g.43822693_43822694del, NC_000017.11:g.43822694del, NC_000017.11:g.43822694dup, NC_000017.11:g.43822693_43822694dup, NC_000017.11:g.43822692_43822694dup, NC_000017.11:g.43822691_43822694dup, NC_000017.11:g.43822690_43822694dup, NC_000017.11:g.43822689_43822694dup, NC_000017.11:g.43822688_43822694dup, NC_000017.11:g.43822687_43822694dup, NC_000017.11:g.43822686_43822694dup, NC_000017.11:g.43822685_43822694dup, NC_000017.11:g.43822684_43822694dup, NC_000017.11:g.43822683_43822694dup, NC_000017.11:g.43822682_43822694dup, NC_000017.11:g.43822681_43822694dup, NC_000017.11:g.43822680_43822694dup, NC_000017.11:g.43822679_43822694dup, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.43822694_43822695insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900052_41900062del, NC_000017.10:g.41900057_41900062del, NC_000017.10:g.41900058_41900062del, NC_000017.10:g.41900059_41900062del, NC_000017.10:g.41900060_41900062del, NC_000017.10:g.41900061_41900062del, NC_000017.10:g.41900062del, NC_000017.10:g.41900062dup, NC_000017.10:g.41900061_41900062dup, NC_000017.10:g.41900060_41900062dup, NC_000017.10:g.41900059_41900062dup, NC_000017.10:g.41900058_41900062dup, NC_000017.10:g.41900057_41900062dup, NC_000017.10:g.41900056_41900062dup, NC_000017.10:g.41900055_41900062dup, NC_000017.10:g.41900054_41900062dup, NC_000017.10:g.41900053_41900062dup, NC_000017.10:g.41900052_41900062dup, NC_000017.10:g.41900051_41900062dup, NC_000017.10:g.41900050_41900062dup, NC_000017.10:g.41900049_41900062dup, NC_000017.10:g.41900048_41900062dup, NC_000017.10:g.41900047_41900062dup, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.41900062_41900063insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912868425.

rs1491286842 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 17:43816065 (GRCh38)
17:41893434 (GRCh37)
Canonical SPDI:: NC_000017.11:43816065:A:AA
Gene:: MPP3 (Varview)
Functional Consequence:: stop_gained,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.43816066dup, NC_000017.10:g.41893434dup, NM_001932.6:c.981dup, NM_001932.5:c.981dup, NM_001932.4:c.981dup, NR_003562.4:n.1102dup, NR_003562.3:n.1150dup, NR_003562.2:n.1135dup, XM_006721915.3:c.981dup, XM_006721915.2:c.981dup, XM_006721915.1:c.981dup, NR_148344.2:n.1217dup, NR_148344.1:n.1265dup, NR_148342.2:n.1123dup, NR_148342.1:n.1171dup, NM_001353080.2:c.1005dup, NM_001353080.1:c.1005dup, NR_148343.2:n.1243dup, NR_148343.1:n.1291dup, NM_001330233.2:c.1056dup, NM_001330233.1:c.1056dup, NR_148345.2:n.905dup, NR_148345.1:n.953dup, XM_017024656.2:c.375dup, XM_017024656.1:c.375dup, XM_017024658.2:c.*12dup, XM_017024658.1:c.*12dup, XM_047436097.1:c.*4dup, XM_047436101.1:c.*12dup, XM_047436103.1:c.*12dup, XM_047436098.1:c.*4dup, XR_007065299.1:n.1256dup, XM_047436102.1:c.*12dup, XM_047436100.1:c.*31dup, XM_047436099.1:c.*4dup, NP_001923.2:p.Glu328Ter, XP_006721978.1:p.Glu328Ter, NP_001340009.1:p.Glu336Ter, NP_001317162.1:p.Glu353Ter, XP_016880145.1:p.Glu126Ter

Select item 14912359256.

rs1491235925 has merged into rs1197926220 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:43827338 (GRCh38)
17:41904706 (GRCh37)
Canonical SPDI:: NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43827329:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MPP3 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00314/52 (TOMMO)
T=0.08108/48 (NorthernSweden)
HGVS:: NC_000017.11:g.43827338_43827345del, NC_000017.11:g.43827342_43827345del, NC_000017.11:g.43827343_43827345del, NC_000017.11:g.43827344_43827345del, NC_000017.11:g.43827345del, NC_000017.11:g.43827345dup, NC_000017.11:g.43827344_43827345dup, NC_000017.11:g.43827343_43827345dup, NC_000017.11:g.43827342_43827345dup, NC_000017.11:g.43827341_43827345dup, NC_000017.11:g.43827337_43827345dup, NC_000017.11:g.43827336_43827345dup, NC_000017.10:g.41904706_41904713del, NC_000017.10:g.41904710_41904713del, NC_000017.10:g.41904711_41904713del, NC_000017.10:g.41904712_41904713del, NC_000017.10:g.41904713del, NC_000017.10:g.41904713dup, NC_000017.10:g.41904712_41904713dup, NC_000017.10:g.41904711_41904713dup, NC_000017.10:g.41904710_41904713dup, NC_000017.10:g.41904709_41904713dup, NC_000017.10:g.41904705_41904713dup, NC_000017.10:g.41904704_41904713dup

Select item 14912326337.

rs1491232633 has merged into rs1183945469 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:43826839 (GRCh38)
17:41904207 (GRCh37)
Canonical SPDI:: NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:43826830:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MPP3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.43826839_43826844del, NC_000017.11:g.43826841_43826844del, NC_000017.11:g.43826842_43826844del, NC_000017.11:g.43826843_43826844del, NC_000017.11:g.43826844del, NC_000017.11:g.43826844dup, NC_000017.11:g.43826843_43826844dup, NC_000017.11:g.43826842_43826844dup, NC_000017.11:g.43826841_43826844dup, NC_000017.11:g.43826840_43826844dup, NC_000017.11:g.43826833_43826844dup, NC_000017.11:g.43826844_43826845insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.41904207_41904212del, NC_000017.10:g.41904209_41904212del, NC_000017.10:g.41904210_41904212del, NC_000017.10:g.41904211_41904212del, NC_000017.10:g.41904212del, NC_000017.10:g.41904212dup, NC_000017.10:g.41904211_41904212dup, NC_000017.10:g.41904210_41904212dup, NC_000017.10:g.41904209_41904212dup, NC_000017.10:g.41904208_41904212dup, NC_000017.10:g.41904201_41904212dup, NC_000017.10:g.41904212_41904213insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912124768.

rs1491212476 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:43827330 (GRCh38)
17:41904699 (GRCh37)
Canonical SPDI:: NC_000017.11:43827330::C
Gene:: MPP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000017.11:g.43827330_43827331insC, NC_000017.10:g.41904698_41904699insC

Select item 14908818539.

rs1490881853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43815723 (GRCh38)
17:41893091 (GRCh37)
Canonical SPDI:: NC_000017.11:43815722:T:C
Gene:: MPP3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.43815723T>C, NC_000017.10:g.41893091T>C, XM_047436097.1:c.*347A>G, XM_047436101.1:c.*355A>G, XM_047436103.1:c.*355A>G

Select item 149087366710.

rs1490873667 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 17:43808090 (GRCh38)
17:41885458 (GRCh37)
Canonical SPDI:: NC_000017.11:43808089:AAAAAAA:AAAAAA,NC_000017.11:43808089:AAAAAAA:AAAAAAAA
Gene:: MPP3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.43808096del, NC_000017.11:g.43808096dup, NC_000017.10:g.41885464del, NC_000017.10:g.41885464dup

Select item 149080835911.

rs1490808359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43806564 (GRCh38)
17:41883932 (GRCh37)
Canonical SPDI:: NC_000017.11:43806563:T:C
Gene:: MPP3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.43806564T>C, NC_000017.10:g.41883932T>C

Select item 149076171312.

rs1490761713 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTTTTTCTTTTTTTTT [Show Flanks]
Chromosome:: 17:43827336 (GRCh38)
17:41904705 (GRCh37)
Canonical SPDI:: NC_000017.11:43827336:TTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTT
Gene:: MPP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTTTTTTTTTTTTTTTCTTTTTTTTT=0.0002/1 (ALFA)
HGVS:: NC_000017.11:g.43827337_43827345T[21]CTTTTTTTTT[1], NC_000017.10:g.41904705_41904713T[21]CTTTTTTTTT[1]

Select item 149069846613.

rs1490698466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43824794 (GRCh38)
17:41902162 (GRCh37)
Canonical SPDI:: NC_000017.11:43824793:G:A,NC_000017.11:43824793:G:C
Gene:: MPP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.43824794G>A, NC_000017.11:g.43824794G>C, NC_000017.10:g.41902162G>A, NC_000017.10:g.41902162G>C

Select item 149069271214.

rs1490692712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:43823760 (GRCh38)
17:41901128 (GRCh37)
Canonical SPDI:: NC_000017.11:43823759:G:A,NC_000017.11:43823759:G:C
Gene:: MPP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.43823760G>A, NC_000017.11:g.43823760G>C, NC_000017.10:g.41901128G>A, NC_000017.10:g.41901128G>C

Select item 149064805315.

rs1490648053 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43831453 (GRCh38)
17:41908821 (GRCh37)
Canonical SPDI:: NC_000017.11:43831452:G:A
Gene:: MPP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.43831453G>A, NC_000017.10:g.41908821G>A

Select item 149052538016.

rs1490525380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:43833175 (GRCh38)
17:41910543 (GRCh37)
Canonical SPDI:: NC_000017.11:43833174:G:C
Gene:: MPP3 (Varview), LOC107984979 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000029/4 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000017.11:g.43833175G>C, NC_000017.10:g.41910543G>C, NM_001932.5:c.-171C>G, NM_001932.4:c.-171C>G, NR_003562.3:n.20C>G, NR_003562.2:n.5C>G, NR_148344.1:n.20C>G, NR_148342.1:n.20C>G, NM_001353080.1:c.-346C>G, NR_148343.1:n.20C>G, NM_001330233.1:c.-190C>G, NR_148345.1:n.20C>G

Select item 149032883117.

rs1490328831 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43818208 (GRCh38)
17:41895576 (GRCh37)
Canonical SPDI:: NC_000017.11:43818207:C:T
Gene:: MPP3 (Varview)
Functional Consequence:: intron_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_000017.11:g.43818208C>T, NC_000017.10:g.41895576C>T

Select item 149021022918.

rs1490210229 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:43833890 (GRCh38)
17:41911258 (GRCh37)
Canonical SPDI:: NC_000017.11:43833889:G:A
Gene:: MPP3 (Varview), LOC107984979 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.43833890G>A, NC_000017.10:g.41911258G>A, XR_001753057.2:n.186G>A, XR_001753057.1:n.475G>A

Select item 149011844119.

rs1490118441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:43826851 (GRCh38)
17:41904219 (GRCh37)
Canonical SPDI:: NC_000017.11:43826850:T:C
Gene:: MPP3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/2 (GnomAD)
HGVS:: NC_000017.11:g.43826851T>C, NC_000017.10:g.41904219T>C

Select item 148990751220.

rs1489907512 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:43825242 (GRCh38)
17:41902610 (GRCh37)
Canonical SPDI:: NC_000017.11:43825241:C:T
Gene:: MPP3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.43825242C>T, NC_000017.10:g.41902610C>T

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