SNP Links for Gene (Select 29964) - SNP

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Select item 14912126871.

rs1491212687 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:41785020 (GRCh38)
6:41752758 (GRCh37)
Canonical SPDI:: NC_000006.12:41785019:AG:
Gene:: PRICKLE4 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (ExAC)
-=0.000015/4 (TOPMED)
-=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41785020_41785021del, NC_000006.11:g.41752758_41752759del, NM_013397.6:c.326_327del, NM_013397.5:c.326_327del, NM_017601.1:c.206_207del, NP_037529.3:p.Gln109fs

Select item 14909865802.

rs1490986580 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 6:41786246 (GRCh38)
6:41753985 (GRCh37)
Canonical SPDI:: NC_000006.12:41786246:CCCC:CCCCC
Gene:: PRICKLE4 (Varview), TOMM6 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,frameshift_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41786250dup, NC_000006.11:g.41753988dup, NM_013397.6:c.705dup, NM_013397.5:c.705dup, NM_017601.1:c.585dup, NP_037529.3:p.Cys236fs

Select item 14898277183.

rs1489827718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41784016 (GRCh38)
6:41751754 (GRCh37)
Canonical SPDI:: NC_000006.12:41784015:G:A
Gene:: PRICKLE4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000094/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41784016G>A, NC_000006.11:g.41751754G>A, NM_017601.1:c.-103G>A

Select item 14896735874.

rs1489673587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:41787698 (GRCh38)
6:41755436 (GRCh37)
Canonical SPDI:: NC_000006.12:41787697:A:G
Gene:: PRICKLE4 (Varview), TOMM6 (Varview)
Functional Consequence:: initiator_codon_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41787698A>G, NC_000006.11:g.41755436A>G, NM_001134493.2:c.1A>G, NM_001134493.1:c.1A>G, NM_017601.1:c.*987A>G, NM_001382294.1:c.1A>G, NP_001127965.1:p.Met1Val, NP_001369223.1:p.Met1Val

Select item 14896159135.

rs1489615913 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:41779805 (GRCh38)
6:41747543 (GRCh37)
Canonical SPDI:: NC_000006.12:41779804:C:T
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,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_000006.12:g.41779805C>T, NC_000006.11:g.41747543C>T

Select item 14893846556.

rs1489384655 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:41782680 (GRCh38)
6:41750418 (GRCh37)
Canonical SPDI:: NC_000006.12:41782679:C:T
Gene:: PRICKLE4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.41782680C>T, NC_000006.11:g.41750418C>T

Select item 14892745377.

rs1489274537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41787767 (GRCh38)
6:41755505 (GRCh37)
Canonical SPDI:: NC_000006.12:41787766:G:A
Gene:: PRICKLE4 (Varview), TOMM6 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000047/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.41787767G>A, NC_000006.11:g.41755505G>A, NM_001134493.2:c.70G>A, NM_001134493.1:c.70G>A, NM_017601.1:c.*1056G>A, NM_001382294.1:c.70G>A, NP_001127965.1:p.Val24Met, NP_001369223.1:p.Val24Met

Select item 14892725698.

rs1489272569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:41782761 (GRCh38)
6:41750499 (GRCh37)
Canonical SPDI:: NC_000006.12:41782760:G:T
Gene:: PRICKLE4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.41782761G>T, NC_000006.11:g.41750499G>T

Select item 14892701089.

rs1489270108 has merged into rs374159587 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGGCGCGGCGCGGCGCGGC>-,GCGGC,GCGGCGCGGC,GCGGCGCGGCGCGGC,GCGGCGCGGCGCGGCGCGGCGCGGC,GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC [Show Flanks]
Chromosome:: 6:41779751 (GRCh38)
6:41747489 (GRCh37)
Canonical SPDI:: NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC,NC_000006.12:41779740:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGC:GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGCGCGGC=0./0 (ALFA)
GCGGC=0./0 (GENOME_DK)
HGVS:: NC_000006.12:g.41779741GCGGC[2], NC_000006.12:g.41779741GCGGC[3], NC_000006.12:g.41779741GCGGC[4], NC_000006.12:g.41779741GCGGC[5], NC_000006.12:g.41779741GCGGC[7], NC_000006.12:g.41779741GCGGC[8], NC_000006.12:g.41779741GCGGC[9], NC_000006.12:g.41779741GCGGC[10], NC_000006.12:g.41779741GCGGC[11], NC_000006.12:g.41779741GCGGC[12], NC_000006.11:g.41747479GCGGC[2], NC_000006.11:g.41747479GCGGC[3], NC_000006.11:g.41747479GCGGC[4], NC_000006.11:g.41747479GCGGC[5], NC_000006.11:g.41747479GCGGC[7], NC_000006.11:g.41747479GCGGC[8], NC_000006.11:g.41747479GCGGC[9], NC_000006.11:g.41747479GCGGC[10], NC_000006.11:g.41747479GCGGC[11], NC_000006.11:g.41747479GCGGC[12]

Select item 148922160010.

rs1489221600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:41786693 (GRCh38)
6:41754431 (GRCh37)
Canonical SPDI:: NC_000006.12:41786692:C:G,NC_000006.12:41786692:C:T
Gene:: PRICKLE4 (Varview), TOMM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41786693C>G, NC_000006.12:g.41786693C>T, NC_000006.11:g.41754431C>G, NC_000006.11:g.41754431C>T, NM_017601.1:c.921C>G, NM_017601.1:c.921C>T

Select item 148829372711.

rs1488293727 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:41782450 (GRCh38)
6:41750188 (GRCh37)
Canonical SPDI:: NC_000006.12:41782449:C:A,NC_000006.12:41782449:C:T
Gene:: PRICKLE4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000006.12:g.41782450C>A, NC_000006.12:g.41782450C>T, NC_000006.11:g.41750188C>A, NC_000006.11:g.41750188C>T

Select item 148822874112.

rs1488228741 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:41778804 (GRCh38)
6:41746542 (GRCh37)
Canonical SPDI:: NC_000006.12:41778803:T:C
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41778804T>C, NC_000006.11:g.41746542T>C, XM_011514254.2:c.-242A>G, XM_011514254.1:c.-242A>G, XM_047418097.1:c.-237A>G

Select item 148819173613.

rs1488191736 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:41784398 (GRCh38)
6:41752136 (GRCh37)
Canonical SPDI:: NC_000006.12:41784397:T:C
Gene:: PRICKLE4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.41784398T>C, NC_000006.11:g.41752136T>C

Select item 148760716814.

rs1487607168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:41781113 (GRCh38)
6:41748851 (GRCh37)
Canonical SPDI:: NC_000006.12:41781112:G:C
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000006.12:g.41781113G>C, NC_000006.11:g.41748851G>C

Select item 148637583915.

rs1486375839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:41780678 (GRCh38)
6:41748416 (GRCh37)
Canonical SPDI:: NC_000006.12:41780677:G:A
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41780678G>A, NC_000006.11:g.41748416G>A

Select item 148622506416.

rs1486225064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:41787280 (GRCh38)
6:41755018 (GRCh37)
Canonical SPDI:: NC_000006.12:41787279:C:T
Gene:: PRICKLE4 (Varview), TOMM6 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.41787280C>T, NC_000006.11:g.41755018C>T, NM_013397.6:c.*151C>T, NM_013397.5:c.*151C>T, NM_017601.1:c.*569C>T

Select item 148574587217.

rs1485745872 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:41786132 (GRCh38)
6:41753870 (GRCh37)
Canonical SPDI:: NC_000006.12:41786131:T:C
Gene:: PRICKLE4 (Varview), TOMM6 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.41786132T>C, NC_000006.11:g.41753870T>C, NM_013397.6:c.587T>C, NM_013397.5:c.587T>C, NM_017601.1:c.467T>C, NP_037529.3:p.Ile196Thr

Select item 148548470918.

rs1485484709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:41781422 (GRCh38)
6:41749160 (GRCh37)
Canonical SPDI:: NC_000006.12:41781421:A:C
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41781422A>C, NC_000006.11:g.41749160A>C, NM_013397.6:c.-111A>C, NM_013397.5:c.-111A>C, NM_017601.1:c.-628A>C

Select item 148527314119.

rs1485273141 has merged into rs71545914 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:41782397 (GRCh38)
6:41750135 (GRCh37)
Canonical SPDI:: NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:41782386:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PRICKLE4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.41782397_41782407del, NC_000006.12:g.41782399_41782407del, NC_000006.12:g.41782407del, NC_000006.12:g.41782407dup, NC_000006.12:g.41782406_41782407dup, NC_000006.12:g.41782405_41782407dup, NC_000006.12:g.41782404_41782407dup, NC_000006.12:g.41782403_41782407dup, NC_000006.11:g.41750135_41750145del, NC_000006.11:g.41750137_41750145del, NC_000006.11:g.41750145del, NC_000006.11:g.41750145dup, NC_000006.11:g.41750144_41750145dup, NC_000006.11:g.41750143_41750145dup, NC_000006.11:g.41750142_41750145dup, NC_000006.11:g.41750141_41750145dup

Select item 148503695020.

rs1485036950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:41779110 (GRCh38)
6:41746848 (GRCh37)
Canonical SPDI:: NC_000006.12:41779109:G:C
Gene:: FRS3 (Varview), PRICKLE4 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.41779110G>C, NC_000006.11:g.41746848G>C, XM_011514254.2:c.-548C>G, XM_011514254.1:c.-548C>G

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