SNP Links for Gene (Select 22875) - SNP

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Select item 14913809661.

rs1491380966 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:46131120 (GRCh38)
6:46098857 (GRCh37)
Canonical SPDI:: NC_000006.12:46131119:AT:
Gene:: ENPP4 (Varview), CLIC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000009/1 (GnomAD)
HGVS:: NC_000006.12:g.46131120_46131121del, NC_000006.11:g.46098857_46098858del

Select item 14913715972.

rs1491371597 [Homo sapiens]

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

Select item 14913603973.

rs1491360397 [Homo sapiens]

Variant type:: INS
Alleles:: ->TATAATGTATATTATATATTATATATT,TATATAATATATATAATGTATATTATATATTATATATT,TATATAATGTATATTATATATTATATATT,TATATATAATGTATATTATATATTATATATT,TT [Show Flanks]
Chromosome:: 6:46142392 (GRCh38)
6:46110130 (GRCh37)
Canonical SPDI:: NC_000006.12:46142392::TATAATGTATATTATATATTATATATT,NC_000006.12:46142392::TATATAATATATATAATGTATATTATATATTATATATT,NC_000006.12:46142392::TATATAATGTATATTATATATTATATATT,NC_000006.12:46142392::TATATATAATGTATATTATATATTATATATT,NC_000006.12:46142392::TT
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000006.12:g.46142392_46142393insTATAATGTATATTATATATTATATATT, NC_000006.12:g.46142392_46142393insTATATAATATATATAATGTATATTATATATTATATATT, NC_000006.12:g.46142392_46142393insTATATAATGTATATTATATATTATATATT, NC_000006.12:g.46142392_46142393insTATATATAATGTATATTATATATTATATATT, NC_000006.12:g.46142392_46142393insTT, NC_000006.11:g.46110129_46110130insTATAATGTATATTATATATTATATATT, NC_000006.11:g.46110129_46110130insTATATAATATATATAATGTATATTATATATTATATATT, NC_000006.11:g.46110129_46110130insTATATAATGTATATTATATATTATATATT, NC_000006.11:g.46110129_46110130insTATATATAATGTATATTATATATTATATATT, NC_000006.11:g.46110129_46110130insTT

Select item 14913351424.

rs1491335142 has merged into rs34292838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT [Show Flanks]
Chromosome:: 6:46131126 (GRCh38)
6:46098863 (GRCh37)
Canonical SPDI:: NC_000006.12:46131120:TTTTTTTTT:TTTTT,NC_000006.12:46131120:TTTTTTTTT:TTTTTTT,NC_000006.12:46131120:TTTTTTTTT:TTTTTTTT,NC_000006.12:46131120:TTTTTTTTT:TTTTTTTTTT
Gene:: ENPP4 (Varview), CLIC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.359905/6032 (TOMMO)
-=0.379367/695 (Korea1K)
-=0.415888/89 (Vietnamese)
-=0.437636/115838 (TOPMED)
T=0.455912/455 (GoNL)
-=0.475/19 (GENOME_DK)
-=0.476667/286 (NorthernSweden)
-=0.487042/2180 (Estonian)
HGVS:: NC_000006.12:g.46131126_46131129del, NC_000006.12:g.46131128_46131129del, NC_000006.12:g.46131129del, NC_000006.12:g.46131129dup, NC_000006.11:g.46098863_46098866del, NC_000006.11:g.46098865_46098866del, NC_000006.11:g.46098866del, NC_000006.11:g.46098866dup

Select item 14913262755.

rs1491326275 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:46142392 (GRCh38)
6:46110129 (GRCh37)
Canonical SPDI:: NC_000006.12:46142391:AA:
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.46142392_46142393del, NC_000006.11:g.46110129_46110130del

Select item 14912443976.

rs1491244397 has merged into rs35942390 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 6:46143117 (GRCh38)
6:46110854 (GRCh37)
Canonical SPDI:: NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAG,NC_000006.12:46143107:GAGAGAGAGAGAGAGAGAG:GAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGAG=0./0 (ALFA)
-=0.3717/223 (NorthernSweden)
-=0.475/19 (GENOME_DK)
-=0.4752/2380 (1000Genomes)
HGVS:: NC_000006.12:g.46143109AG[4], NC_000006.12:g.46143109AG[5], NC_000006.12:g.46143109AG[6], NC_000006.12:g.46143109AG[7], NC_000006.12:g.46143109AG[8], NC_000006.12:g.46143109AG[10], NC_000006.12:g.46143109AG[11], NC_000006.12:g.46143109AG[12], NC_000006.12:g.46143109AG[13], NC_000006.11:g.46110846AG[4], NC_000006.11:g.46110846AG[5], NC_000006.11:g.46110846AG[6], NC_000006.11:g.46110846AG[7], NC_000006.11:g.46110846AG[8], NC_000006.11:g.46110846AG[10], NC_000006.11:g.46110846AG[11], NC_000006.11:g.46110846AG[12], NC_000006.11:g.46110846AG[13]

Select item 14909412277.

rs1490941227 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATAT>- [Show Flanks]
Chromosome:: 6:46142450 (GRCh38)
6:46110187 (GRCh37)
Canonical SPDI:: NC_000006.12:46142444:TATATTATAT:TATAT
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATTATAT=0.000169/2 (ALFA)
-=0.000065/7 (GnomAD)
HGVS:: NC_000006.12:g.46142445TATAT[1], NC_000006.11:g.46110182TATAT[1]

Select item 14908921828.

rs1490892182 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGT>- [Show Flanks]
Chromosome:: 6:46143044 (GRCh38)
6:46110781 (GRCh37)
Canonical SPDI:: NC_000006.12:46143038:GTGGTGGT:GTGGT
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGGT=0./0 (ALFA)
-=0.000023/6 (TOPMED)
HGVS:: NC_000006.12:g.46143041GGT[1], NC_000006.11:g.46110778GGT[1]

Select item 14906829059.

rs1490682905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:46134468 (GRCh38)
6:46102205 (GRCh37)
Canonical SPDI:: NC_000006.12:46134467:G:C
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46134468G>C, NC_000006.11:g.46102205G>C

Select item 149051849610.

rs1490518496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:46133973 (GRCh38)
6:46101710 (GRCh37)
Canonical SPDI:: NC_000006.12:46133972:C:A
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.46133973C>A, NC_000006.11:g.46101710C>A

Select item 149020783211.

rs1490207832 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:46136121 (GRCh38)
6:46103858 (GRCh37)
Canonical SPDI:: NC_000006.12:46136120:T:G
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46136121T>G, NC_000006.11:g.46103858T>G

Select item 149013360312.

rs1490133603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46144184 (GRCh38)
6:46111921 (GRCh37)
Canonical SPDI:: NC_000006.12:46144183:G:A
Gene:: ENPP4 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.46144184G>A, NC_000006.11:g.46111921G>A, NM_014936.5:c.*544G>A, NM_014936.4:c.*544G>A

Select item 149011519413.

rs1490115194 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46128998 (GRCh38)
6:46096735 (GRCh37)
Canonical SPDI:: NC_000006.12:46128997:C:T
Gene:: ENPP4 (Varview), CLIC5 (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=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.46128998C>T, NC_000006.11:g.46096735C>T

Select item 148960683614.

rs1489606836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46136891 (GRCh38)
6:46104628 (GRCh37)
Canonical SPDI:: NC_000006.12:46136890:G:A
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46136891G>A, NC_000006.11:g.46104628G>A

Select item 148937201015.

rs1489372010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46137957 (GRCh38)
6:46105694 (GRCh37)
Canonical SPDI:: NC_000006.12:46137956:C:T
Gene:: ENPP4 (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_000006.12:g.46137957C>T, NC_000006.11:g.46105694C>T

Select item 148909503316.

rs1489095033 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:46146058 (GRCh38)
6:46113795 (GRCh37)
Canonical SPDI:: NC_000006.12:46146057:C:T
Gene:: ENPP4 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.46146058C>T, NC_000006.11:g.46113795C>T, NM_014936.5:c.*2418C>T, NM_014936.4:c.*2418C>T

Select item 148904503617.

rs1489045036 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:46130203 (GRCh38)
6:46097940 (GRCh37)
Canonical SPDI:: NC_000006.12:46130202:T:G
Gene:: ENPP4 (Varview), CLIC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.46130203T>G, NC_000006.11:g.46097940T>G

Select item 148885774018.

rs1488857740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:46137291 (GRCh38)
6:46105028 (GRCh37)
Canonical SPDI:: NC_000006.12:46137290:T:A
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.46137291T>A, NC_000006.11:g.46105028T>A

Select item 148862875619.

rs1488628756 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:46134630 (GRCh38)
6:46102367 (GRCh37)
Canonical SPDI:: NC_000006.12:46134629:G:A
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000006.12:g.46134630G>A, NC_000006.11:g.46102367G>A

Select item 148855869820.

rs1488558698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:46135465 (GRCh38)
6:46103202 (GRCh37)
Canonical SPDI:: NC_000006.12:46135464:T:C
Gene:: ENPP4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.46135465T>C, NC_000006.11:g.46103202T>C

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