SNP Links for Gene (Select 5167) - SNP

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Select item 14915752231.

rs1491575223 has merged into rs1489541749 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT [Show Flanks]
Chromosome:: 6:131811358 (GRCh38)
6:132132498 (GRCh37)
Canonical SPDI:: NC_000006.12:131811355:ATATAT:AT,NC_000006.12:131811355:ATATAT:ATAT
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATAT=0.000054/1 (ALFA)
-=0.000109/13 (GnomAD)
HGVS:: NC_000006.12:g.131811356AT[1], NC_000006.12:g.131811356AT[2], NC_000006.11:g.132132496AT[1], NC_000006.11:g.132132496AT[2], NG_008206.1:g.8341AT[1], NG_008206.1:g.8341AT[2]

Select item 14915498272.

rs1491549827 [Homo sapiens]

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

Select item 14915152073.

rs1491515207 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:131837520 (GRCh38)
6:132158660 (GRCh37)
Canonical SPDI:: NC_000006.12:131837519:CA:
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000006.12:g.131837520_131837521del, NC_000006.11:g.132158660_132158661del, NG_008206.1:g.34505_34506del

Select item 14915062214.

rs1491506221 has merged into rs112662261 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 6:131813539 (GRCh38)
6:132134679 (GRCh37)
Canonical SPDI:: NC_000006.12:131813529:AAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:131813529:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:131813529:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:131813529:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:131813529:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:131813529:AAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.07718/46 (NorthernSweden)
A=0.125/5 (GENOME_DK)
HGVS:: NC_000006.12:g.131813539_131813541del, NC_000006.12:g.131813540_131813541del, NC_000006.12:g.131813541del, NC_000006.12:g.131813541dup, NC_000006.12:g.131813540_131813541dup, NC_000006.12:g.131813539_131813541dup, NC_000006.11:g.132134679_132134681del, NC_000006.11:g.132134680_132134681del, NC_000006.11:g.132134681del, NC_000006.11:g.132134681dup, NC_000006.11:g.132134680_132134681dup, NC_000006.11:g.132134679_132134681dup, NG_008206.1:g.10524_10526del, NG_008206.1:g.10525_10526del, NG_008206.1:g.10526del, NG_008206.1:g.10526dup, NG_008206.1:g.10525_10526dup, NG_008206.1:g.10524_10526dup

Select item 14914903565.

rs1491490356 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:131834547 (GRCh38)
6:132155687 (GRCh37)
Canonical SPDI:: NC_000006.12:131834545:TCT:T
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000025/3 (GnomAD)
HGVS:: NC_000006.12:g.131834547_131834548del, NC_000006.11:g.132155687_132155688del, NG_008206.1:g.31532_31533del

Select item 14914393786.

rs1491439378 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:131845468 (GRCh38)
6:132166609 (GRCh37)
Canonical SPDI:: NC_000006.12:131845468:AA:AAA
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
A=0.00009/11 (GnomAD)
HGVS:: NC_000006.12:g.131845470dup, NC_000006.11:g.132166610dup, NG_008206.1:g.42455dup

Select item 14914218127.

rs1491421812 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:131818661 (GRCh38)
6:132139801 (GRCh37)
Canonical SPDI:: NC_000006.12:131818660:AT:
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.131818661_131818662del, NC_000006.11:g.132139801_132139802del, NG_008206.1:g.15646_15647del

Select item 14914060028.

rs1491406002 has merged into rs71030764 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 6:131882662 (GRCh38)
6:132203802 (GRCh37)
Canonical SPDI:: NC_000006.12:131882651:TATATATATATA:TATATATATA,NC_000006.12:131882651:TATATATATATA:TATATATATATATA
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATA=0./0 (ALFA)
-=0.00002/1 (GnomAD)
-=0.00004/0 (TOMMO)
-=0.00147/1 (Korea1K)
HGVS:: NC_000006.12:g.131882652TA[5], NC_000006.12:g.131882652TA[7], NC_000006.11:g.132203792TA[5], NC_000006.11:g.132203792TA[7], NG_008206.1:g.79637TA[5], NG_008206.1:g.79637TA[7]

Select item 14913917379.

rs1491391737 has merged into rs35566552 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 6:131817991 (GRCh38)
6:132139131 (GRCh37)
Canonical SPDI:: NC_000006.12:131817983:AAAAAAAAA:AAAAAAA,NC_000006.12:131817983:AAAAAAAAA:AAAAAAAA,NC_000006.12:131817983:AAAAAAAAA:AAAAAAAAAA,NC_000006.12:131817983:AAAAAAAAA:AAAAAAAAAAA
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.075/3 (GENOME_DK)
-=0.085829/384 (Estonian)
-=0.087839/23250 (TOPMED)
-=0.100863/374 (TWINSUK)
-=0.10301/397 (ALSPAC)
-=0.121667/73 (NorthernSweden)
-=0.12508/586 (1000Genomes)
HGVS:: NC_000006.12:g.131817991_131817992del, NC_000006.12:g.131817992del, NC_000006.12:g.131817992dup, NC_000006.12:g.131817991_131817992dup, NC_000006.11:g.132139131_132139132del, NC_000006.11:g.132139132del, NC_000006.11:g.132139132dup, NC_000006.11:g.132139131_132139132dup, NG_008206.1:g.14976_14977del, NG_008206.1:g.14977del, NG_008206.1:g.14977dup, NG_008206.1:g.14976_14977dup

Select item 149138349210.

rs1491383492 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:131845043 (GRCh38)
6:132166183 (GRCh37)
Canonical SPDI:: NC_000006.12:131845042:GT:
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000629/69 (GnomAD)
HGVS:: NC_000006.12:g.131845043_131845044del, NC_000006.11:g.132166183_132166184del, NG_008206.1:g.42028_42029del

Select item 149135689311.

rs1491356893 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:131847894 (GRCh38)
6:132169035 (GRCh37)
Canonical SPDI:: NC_000006.12:131847894::G
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.131847894_131847895insG, NC_000006.11:g.132169034_132169035insG, NG_008206.1:g.44879_44880insG

Select item 149134399112.

rs1491343991 has merged into rs59956343 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:131847869 (GRCh38)
6:132169009 (GRCh37)
Canonical SPDI:: NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign-likely-benign,benign,uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.2907/1456 (1000Genomes)
HGVS:: NC_000006.12:g.131847857GT[6], NC_000006.12:g.131847857GT[9], NC_000006.12:g.131847857GT[11], NC_000006.12:g.131847857GT[12], NC_000006.12:g.131847857GT[13], NC_000006.12:g.131847857GT[14], NC_000006.12:g.131847857GT[15], NC_000006.12:g.131847857GT[16], NC_000006.12:g.131847857GT[17], NC_000006.12:g.131847857GT[18], NC_000006.12:g.131847857GT[20], NC_000006.12:g.131847857GT[21], NC_000006.12:g.131847857GT[22], NC_000006.12:g.131847857GT[23], NC_000006.12:g.131847857GT[24], NC_000006.12:g.131847857GT[25], NC_000006.11:g.132168997GT[6], NC_000006.11:g.132168997GT[9], NC_000006.11:g.132168997GT[11], NC_000006.11:g.132168997GT[12], NC_000006.11:g.132168997GT[13], NC_000006.11:g.132168997GT[14], NC_000006.11:g.132168997GT[15], NC_000006.11:g.132168997GT[16], NC_000006.11:g.132168997GT[17], NC_000006.11:g.132168997GT[18], NC_000006.11:g.132168997GT[20], NC_000006.11:g.132168997GT[21], NC_000006.11:g.132168997GT[22], NC_000006.11:g.132168997GT[23], NC_000006.11:g.132168997GT[24], NC_000006.11:g.132168997GT[25], NG_008206.1:g.44842GT[6], NG_008206.1:g.44842GT[9], NG_008206.1:g.44842GT[11], NG_008206.1:g.44842GT[12], NG_008206.1:g.44842GT[13], NG_008206.1:g.44842GT[14], NG_008206.1:g.44842GT[15], NG_008206.1:g.44842GT[16], NG_008206.1:g.44842GT[17], NG_008206.1:g.44842GT[18], NG_008206.1:g.44842GT[20], NG_008206.1:g.44842GT[21], NG_008206.1:g.44842GT[22], NG_008206.1:g.44842GT[23], NG_008206.1:g.44842GT[24], NG_008206.1:g.44842GT[25]

Select item 149131581913.

rs1491315819 has merged into rs142380855 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:131845055 (GRCh38)
6:132166195 (GRCh37)
Canonical SPDI:: NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131845043:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000098/26 (TOPMED)
-=0.263158/10 (GENOME_DK)
-=0.278355/1394 (1000Genomes)
HGVS:: NC_000006.12:g.131845055_131845072del, NC_000006.12:g.131845056_131845072del, NC_000006.12:g.131845057_131845072del, NC_000006.12:g.131845058_131845072del, NC_000006.12:g.131845059_131845072del, NC_000006.12:g.131845060_131845072del, NC_000006.12:g.131845061_131845072del, NC_000006.12:g.131845062_131845072del, NC_000006.12:g.131845063_131845072del, NC_000006.12:g.131845064_131845072del, NC_000006.12:g.131845065_131845072del, NC_000006.12:g.131845066_131845072del, NC_000006.12:g.131845067_131845072del, NC_000006.12:g.131845068_131845072del, NC_000006.12:g.131845069_131845072del, NC_000006.12:g.131845070_131845072del, NC_000006.12:g.131845071_131845072del, NC_000006.12:g.131845072del, NC_000006.12:g.131845072dup, NC_000006.12:g.131845071_131845072dup, NC_000006.12:g.131845070_131845072dup, NC_000006.12:g.131845069_131845072dup, NC_000006.12:g.131845068_131845072dup, NC_000006.12:g.131845067_131845072dup, NC_000006.12:g.131845066_131845072dup, NC_000006.12:g.131845065_131845072dup, NC_000006.12:g.131845064_131845072dup, NC_000006.12:g.131845063_131845072dup, NC_000006.12:g.131845062_131845072dup, NC_000006.12:g.131845061_131845072dup, NC_000006.12:g.131845060_131845072dup, NC_000006.12:g.131845059_131845072dup, NC_000006.12:g.131845058_131845072dup, NC_000006.12:g.131845072_131845073insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.132166195_132166212del, NC_000006.11:g.132166196_132166212del, NC_000006.11:g.132166197_132166212del, NC_000006.11:g.132166198_132166212del, NC_000006.11:g.132166199_132166212del, NC_000006.11:g.132166200_132166212del, NC_000006.11:g.132166201_132166212del, NC_000006.11:g.132166202_132166212del, NC_000006.11:g.132166203_132166212del, NC_000006.11:g.132166204_132166212del, NC_000006.11:g.132166205_132166212del, NC_000006.11:g.132166206_132166212del, NC_000006.11:g.132166207_132166212del, NC_000006.11:g.132166208_132166212del, NC_000006.11:g.132166209_132166212del, NC_000006.11:g.132166210_132166212del, NC_000006.11:g.132166211_132166212del, NC_000006.11:g.132166212del, NC_000006.11:g.132166212dup, NC_000006.11:g.132166211_132166212dup, NC_000006.11:g.132166210_132166212dup, NC_000006.11:g.132166209_132166212dup, NC_000006.11:g.132166208_132166212dup, NC_000006.11:g.132166207_132166212dup, NC_000006.11:g.132166206_132166212dup, NC_000006.11:g.132166205_132166212dup, NC_000006.11:g.132166204_132166212dup, NC_000006.11:g.132166203_132166212dup, NC_000006.11:g.132166202_132166212dup, NC_000006.11:g.132166201_132166212dup, NC_000006.11:g.132166200_132166212dup, NC_000006.11:g.132166199_132166212dup, NC_000006.11:g.132166198_132166212dup, NC_000006.11:g.132166212_132166213insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008206.1:g.42040_42057del, NG_008206.1:g.42041_42057del, NG_008206.1:g.42042_42057del, NG_008206.1:g.42043_42057del, NG_008206.1:g.42044_42057del, NG_008206.1:g.42045_42057del, NG_008206.1:g.42046_42057del, NG_008206.1:g.42047_42057del, NG_008206.1:g.42048_42057del, NG_008206.1:g.42049_42057del, NG_008206.1:g.42050_42057del, NG_008206.1:g.42051_42057del, NG_008206.1:g.42052_42057del, NG_008206.1:g.42053_42057del, NG_008206.1:g.42054_42057del, NG_008206.1:g.42055_42057del, NG_008206.1:g.42056_42057del, NG_008206.1:g.42057del, NG_008206.1:g.42057dup, NG_008206.1:g.42056_42057dup, NG_008206.1:g.42055_42057dup, NG_008206.1:g.42054_42057dup, NG_008206.1:g.42053_42057dup, NG_008206.1:g.42052_42057dup, NG_008206.1:g.42051_42057dup, NG_008206.1:g.42050_42057dup, NG_008206.1:g.42049_42057dup, NG_008206.1:g.42048_42057dup, NG_008206.1:g.42047_42057dup, NG_008206.1:g.42046_42057dup, NG_008206.1:g.42045_42057dup, NG_008206.1:g.42044_42057dup, NG_008206.1:g.42043_42057dup, NG_008206.1:g.42057_42058insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149130061414.

rs1491300614 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 6:131845451 (GRCh38)
6:132166591 (GRCh37)
Canonical SPDI:: NC_000006.12:131845449:TGT:T
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00025/12 (GnomAD)
-=0.04567/176 (ALSPAC)
-=0.05744/213 (TWINSUK)
HGVS:: NC_000006.12:g.131845451_131845452del, NC_000006.11:g.132166591_132166592del, NG_008206.1:g.42436_42437del

Select item 149127376215.

rs1491273762 has merged into rs59956343 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 6:131847869 (GRCh38)
6:132169009 (GRCh37)
Canonical SPDI:: NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000006.12:131847856:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign-likely-benign,benign,uncertain-significance,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.2907/1456 (1000Genomes)
HGVS:: NC_000006.12:g.131847857GT[6], NC_000006.12:g.131847857GT[9], NC_000006.12:g.131847857GT[11], NC_000006.12:g.131847857GT[12], NC_000006.12:g.131847857GT[13], NC_000006.12:g.131847857GT[14], NC_000006.12:g.131847857GT[15], NC_000006.12:g.131847857GT[16], NC_000006.12:g.131847857GT[17], NC_000006.12:g.131847857GT[18], NC_000006.12:g.131847857GT[20], NC_000006.12:g.131847857GT[21], NC_000006.12:g.131847857GT[22], NC_000006.12:g.131847857GT[23], NC_000006.12:g.131847857GT[24], NC_000006.12:g.131847857GT[25], NC_000006.11:g.132168997GT[6], NC_000006.11:g.132168997GT[9], NC_000006.11:g.132168997GT[11], NC_000006.11:g.132168997GT[12], NC_000006.11:g.132168997GT[13], NC_000006.11:g.132168997GT[14], NC_000006.11:g.132168997GT[15], NC_000006.11:g.132168997GT[16], NC_000006.11:g.132168997GT[17], NC_000006.11:g.132168997GT[18], NC_000006.11:g.132168997GT[20], NC_000006.11:g.132168997GT[21], NC_000006.11:g.132168997GT[22], NC_000006.11:g.132168997GT[23], NC_000006.11:g.132168997GT[24], NC_000006.11:g.132168997GT[25], NG_008206.1:g.44842GT[6], NG_008206.1:g.44842GT[9], NG_008206.1:g.44842GT[11], NG_008206.1:g.44842GT[12], NG_008206.1:g.44842GT[13], NG_008206.1:g.44842GT[14], NG_008206.1:g.44842GT[15], NG_008206.1:g.44842GT[16], NG_008206.1:g.44842GT[17], NG_008206.1:g.44842GT[18], NG_008206.1:g.44842GT[20], NG_008206.1:g.44842GT[21], NG_008206.1:g.44842GT[22], NG_008206.1:g.44842GT[23], NG_008206.1:g.44842GT[24], NG_008206.1:g.44842GT[25]

Select item 149124697016.

rs1491246970 has merged into rs34437450 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:131834543 (GRCh38)
6:132155683 (GRCh37)
Canonical SPDI:: NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:131834528:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3956/1981 (1000Genomes)
HGVS:: NC_000006.12:g.131834543_131834546del, NC_000006.12:g.131834544_131834546del, NC_000006.12:g.131834545_131834546del, NC_000006.12:g.131834546del, NC_000006.12:g.131834546dup, NC_000006.12:g.131834545_131834546dup, NC_000006.12:g.131834544_131834546dup, NC_000006.12:g.131834543_131834546dup, NC_000006.12:g.131834542_131834546dup, NC_000006.12:g.131834540_131834546dup, NC_000006.12:g.131834538_131834546dup, NC_000006.11:g.132155683_132155686del, NC_000006.11:g.132155684_132155686del, NC_000006.11:g.132155685_132155686del, NC_000006.11:g.132155686del, NC_000006.11:g.132155686dup, NC_000006.11:g.132155685_132155686dup, NC_000006.11:g.132155684_132155686dup, NC_000006.11:g.132155683_132155686dup, NC_000006.11:g.132155682_132155686dup, NC_000006.11:g.132155680_132155686dup, NC_000006.11:g.132155678_132155686dup, NG_008206.1:g.31528_31531del, NG_008206.1:g.31529_31531del, NG_008206.1:g.31530_31531del, NG_008206.1:g.31531del, NG_008206.1:g.31531dup, NG_008206.1:g.31530_31531dup, NG_008206.1:g.31529_31531dup, NG_008206.1:g.31528_31531dup, NG_008206.1:g.31527_31531dup, NG_008206.1:g.31525_31531dup, NG_008206.1:g.31523_31531dup

Select item 149121718617.

rs1491217186 has merged into rs148192397 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 6:131818659 (GRCh38)
6:132139799 (GRCh37)
Canonical SPDI:: NC_000006.12:131818647:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:131818647:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:131818647:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:131818647:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:131818647:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2883/1444 (1000Genomes)
A=0.3964/1470 (TWINSUK)
A=0.3993/238 (NorthernSweden)
A=0.4022/1550 (ALSPAC)
A=0.425/17 (GENOME_DK)
HGVS:: NC_000006.12:g.131818659_131818661del, NC_000006.12:g.131818660_131818661del, NC_000006.12:g.131818661del, NC_000006.12:g.131818661dup, NC_000006.12:g.131818660_131818661dup, NC_000006.11:g.132139799_132139801del, NC_000006.11:g.132139800_132139801del, NC_000006.11:g.132139801del, NC_000006.11:g.132139801dup, NC_000006.11:g.132139800_132139801dup, NG_008206.1:g.15644_15646del, NG_008206.1:g.15645_15646del, NG_008206.1:g.15646del, NG_008206.1:g.15646dup, NG_008206.1:g.15645_15646dup

Select item 149116881218.

rs1491168812 has merged into rs35142604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 6:131877876 (GRCh38)
6:132199016 (GRCh37)
Canonical SPDI:: NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000006.12:131877866:ATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000006.12:g.131877868TA[4], NC_000006.12:g.131877868TA[5], NC_000006.12:g.131877868TA[6], NC_000006.12:g.131877868TA[7], NC_000006.12:g.131877868TA[8], NC_000006.12:g.131877868TA[9], NC_000006.12:g.131877868TA[10], NC_000006.12:g.131877868TA[11], NC_000006.12:g.131877868TA[12], NC_000006.12:g.131877868TA[13], NC_000006.12:g.131877868TA[14], NC_000006.12:g.131877868TA[15], NC_000006.12:g.131877868TA[17], NC_000006.12:g.131877868TA[18], NC_000006.12:g.131877868TA[19], NC_000006.12:g.131877868TA[20], NC_000006.12:g.131877868TA[21], NC_000006.12:g.131877868TA[22], NC_000006.12:g.131877868TA[23], NC_000006.12:g.131877868TA[24], NC_000006.12:g.131877868TA[25], NC_000006.12:g.131877868TA[26], NC_000006.12:g.131877868TA[27], NC_000006.12:g.131877868TA[29], NC_000006.11:g.132199008TA[4], NC_000006.11:g.132199008TA[5], NC_000006.11:g.132199008TA[6], NC_000006.11:g.132199008TA[7], NC_000006.11:g.132199008TA[8], NC_000006.11:g.132199008TA[9], NC_000006.11:g.132199008TA[10], NC_000006.11:g.132199008TA[11], NC_000006.11:g.132199008TA[12], NC_000006.11:g.132199008TA[13], NC_000006.11:g.132199008TA[14], NC_000006.11:g.132199008TA[15], NC_000006.11:g.132199008TA[17], NC_000006.11:g.132199008TA[18], NC_000006.11:g.132199008TA[19], NC_000006.11:g.132199008TA[20], NC_000006.11:g.132199008TA[21], NC_000006.11:g.132199008TA[22], NC_000006.11:g.132199008TA[23], NC_000006.11:g.132199008TA[24], NC_000006.11:g.132199008TA[25], NC_000006.11:g.132199008TA[26], NC_000006.11:g.132199008TA[27], NC_000006.11:g.132199008TA[29], NG_008206.1:g.74853TA[4], NG_008206.1:g.74853TA[5], NG_008206.1:g.74853TA[6], NG_008206.1:g.74853TA[7], NG_008206.1:g.74853TA[8], NG_008206.1:g.74853TA[9], NG_008206.1:g.74853TA[10], NG_008206.1:g.74853TA[11], NG_008206.1:g.74853TA[12], NG_008206.1:g.74853TA[13], NG_008206.1:g.74853TA[14], NG_008206.1:g.74853TA[15], NG_008206.1:g.74853TA[17], NG_008206.1:g.74853TA[18], NG_008206.1:g.74853TA[19], NG_008206.1:g.74853TA[20], NG_008206.1:g.74853TA[21], NG_008206.1:g.74853TA[22], NG_008206.1:g.74853TA[23], NG_008206.1:g.74853TA[24], NG_008206.1:g.74853TA[25], NG_008206.1:g.74853TA[26], NG_008206.1:g.74853TA[27], NG_008206.1:g.74853TA[29]

Select item 149115695319.

rs1491156953 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 6:131837173 (GRCh38)
6:132158314 (GRCh37)
Canonical SPDI:: NC_000006.12:131837173:G:GCG
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCG=0./0 (ALFA)
GC=0.00022/3 (GnomAD)
HGVS:: NC_000006.12:g.131837174_131837175insCG, NC_000006.11:g.132158314_132158315insCG, NG_008206.1:g.34159_34160insCG

Select item 149112758520.

rs1491127585 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:131845468 (GRCh38)
6:132166608 (GRCh37)
Canonical SPDI:: NC_000006.12:131845467:TA:
Gene:: ENPP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.131845468_131845469del, NC_000006.11:g.132166608_132166609del, NG_008206.1:g.42453_42454del

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