SNP Links for Gene (Select 3612) - SNP

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Select item 14915149411.

rs1491514941 [Homo sapiens]

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

Select item 14913858102.

rs1491385810 has merged into rs33975606 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:81666882 (GRCh38)
8:82579117 (GRCh37)
Canonical SPDI:: NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:81666869:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.81666882_81666896del, NC_000008.11:g.81666883_81666896del, NC_000008.11:g.81666884_81666896del, NC_000008.11:g.81666885_81666896del, NC_000008.11:g.81666886_81666896del, NC_000008.11:g.81666887_81666896del, NC_000008.11:g.81666888_81666896del, NC_000008.11:g.81666889_81666896del, NC_000008.11:g.81666890_81666896del, NC_000008.11:g.81666891_81666896del, NC_000008.11:g.81666892_81666896del, NC_000008.11:g.81666893_81666896del, NC_000008.11:g.81666894_81666896del, NC_000008.11:g.81666895_81666896del, NC_000008.11:g.81666896del, NC_000008.11:g.81666896dup, NC_000008.11:g.81666895_81666896dup, NC_000008.11:g.81666894_81666896dup, NC_000008.11:g.81666893_81666896dup, NC_000008.11:g.81666892_81666896dup, NC_000008.11:g.81666890_81666896dup, NC_000008.11:g.81666889_81666896dup, NC_000008.10:g.82579117_82579131del, NC_000008.10:g.82579118_82579131del, NC_000008.10:g.82579119_82579131del, NC_000008.10:g.82579120_82579131del, NC_000008.10:g.82579121_82579131del, NC_000008.10:g.82579122_82579131del, NC_000008.10:g.82579123_82579131del, NC_000008.10:g.82579124_82579131del, NC_000008.10:g.82579125_82579131del, NC_000008.10:g.82579126_82579131del, NC_000008.10:g.82579127_82579131del, NC_000008.10:g.82579128_82579131del, NC_000008.10:g.82579129_82579131del, NC_000008.10:g.82579130_82579131del, NC_000008.10:g.82579131del, NC_000008.10:g.82579131dup, NC_000008.10:g.82579130_82579131dup, NC_000008.10:g.82579129_82579131dup, NC_000008.10:g.82579128_82579131dup, NC_000008.10:g.82579127_82579131dup, NC_000008.10:g.82579125_82579131dup, NC_000008.10:g.82579124_82579131dup, NG_015829.1:g.24471_24485del, NG_015829.1:g.24472_24485del, NG_015829.1:g.24473_24485del, NG_015829.1:g.24474_24485del, NG_015829.1:g.24475_24485del, NG_015829.1:g.24476_24485del, NG_015829.1:g.24477_24485del, NG_015829.1:g.24478_24485del, NG_015829.1:g.24479_24485del, NG_015829.1:g.24480_24485del, NG_015829.1:g.24481_24485del, NG_015829.1:g.24482_24485del, NG_015829.1:g.24483_24485del, NG_015829.1:g.24484_24485del, NG_015829.1:g.24485del, NG_015829.1:g.24485dup, NG_015829.1:g.24484_24485dup, NG_015829.1:g.24483_24485dup, NG_015829.1:g.24482_24485dup, NG_015829.1:g.24481_24485dup, NG_015829.1:g.24479_24485dup, NG_015829.1:g.24478_24485dup

Select item 14913742503.

rs1491374250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAT [Show Flanks]
Chromosome:: 8:81687851 (GRCh38)
8:82600087 (GRCh37)
Canonical SPDI:: NC_000008.11:81687851:GAT:GATGGAT
Gene:: IMPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GATGGAT=0.000337/4 (ALFA)
GATG=0.000379/53 (GnomAD)
HGVS:: NC_000008.11:g.81687854_81687855insGGAT, NC_000008.10:g.82600089_82600090insGGAT, NG_015829.1:g.3503_3504insCATC

Select item 14913115624.

rs1491311562 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:81679614 (GRCh38)
8:82591850 (GRCh37)
Canonical SPDI:: NC_000008.11:81679614::A
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.81679614_81679615insA, NC_000008.10:g.82591849_82591850insA, NG_015829.1:g.11740_11741insT

Select item 14912769325.

rs1491276932 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:81687852 (GRCh38)
8:82600087 (GRCh37)
Canonical SPDI:: NC_000008.11:81687850:AGA:A
Gene:: IMPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.81687852_81687853del, NC_000008.10:g.82600087_82600088del, NG_015829.1:g.3503_3504del

Select item 14912043176.

rs1491204317 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:81666869 (GRCh38)
8:82579104 (GRCh37)
Canonical SPDI:: NC_000008.11:81666868:CA:
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0011/13 (ALFA)
-=0.00038/10 (TOMMO)
HGVS:: NC_000008.11:g.81666869_81666870del, NC_000008.10:g.82579104_82579105del, NG_015829.1:g.24485_24486del

Select item 14912017477.

rs1491201747 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:81684266 (GRCh38)
8:82596501 (GRCh37)
Canonical SPDI:: NC_000008.11:81684265:GT:
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.81684266_81684267del, NC_000008.10:g.82596501_82596502del, NG_015829.1:g.7088_7089del

Select item 14911281538.

rs1491128153 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 8:81685070 (GRCh38)
8:82597306 (GRCh37)
Canonical SPDI:: NC_000008.11:81685070:TA:TACTA
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TACTA=0.000422/5 (ALFA)
TAC=0./0 (GnomAD)
HGVS:: NC_000008.11:g.81685072_81685073insCTA, NC_000008.10:g.82597307_82597308insCTA, NG_015829.1:g.6284_6285insGTA

Select item 14910980469.

rs1491098046 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 8:81685077 (GRCh38)
8:82597312 (GRCh37)
Canonical SPDI:: NC_000008.11:81685069:ATATATATA:ATATATA
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATA=0./0 (ALFA)
-=0.000017/2 (GnomAD)
HGVS:: NC_000008.11:g.81685071TA[3], NC_000008.10:g.82597306TA[3], NG_015829.1:g.6278AT[3]

Select item 149095142410.

rs1490951424 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:81666868 (GRCh38)
8:82579103 (GRCh37)
Canonical SPDI:: NC_000008.11:81666867:T:
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.81666868del, NC_000008.10:g.82579103del, NG_015829.1:g.24487del

Select item 149092633711.

rs1490926337 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:81665958 (GRCh38)
8:82578193 (GRCh37)
Canonical SPDI:: NC_000008.11:81665957:G:A
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_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_000008.11:g.81665958G>A, NC_000008.10:g.82578193G>A, NG_015829.1:g.25397C>T

Select item 149075204812.

rs1490752048 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATA>- [Show Flanks]
Chromosome:: 8:81680881 (GRCh38)
8:82593116 (GRCh37)
Canonical SPDI:: NC_000008.11:81680876:AATAATA:AATA
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATA=0.000071/1 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.81680878ATA[1], NC_000008.10:g.82593113ATA[1], NG_015829.1:g.10473ATT[1]

Select item 149072062613.

rs1490720626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81657683 (GRCh38)
8:82569918 (GRCh37)
Canonical SPDI:: NC_000008.11:81657682:A:G
Gene:: IMPA1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.81657683A>G, NC_000008.10:g.82569918A>G, NG_015829.1:g.33672T>C, NM_005536.4:c.*1668T>C, NM_005536.3:c.*1668T>C, NM_001144878.2:c.*1668T>C, NM_001144878.1:c.*1668T>C, NM_001144879.2:c.*1796T>C, NM_001144879.1:c.*1796T>C

Select item 149057976714.

rs1490579767 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:81672414 (GRCh38)
8:82584649 (GRCh37)
Canonical SPDI:: NC_000008.11:81672413:A:G
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81672414A>G, NC_000008.10:g.82584649A>G, NG_015829.1:g.18941T>C

Select item 149049164215.

rs1490491642 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:81664922 (GRCh38)
8:82577157 (GRCh37)
Canonical SPDI:: NC_000008.11:81664921:A:C
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000216/4 (ALFA)
C=0.00006/16 (TOPMED)
C=0.000071/10 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.81664922A>C, NC_000008.10:g.82577157A>C, NG_015829.1:g.26433T>G

Select item 149046977716.

rs1490469777 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCA>- [Show Flanks]
Chromosome:: 8:81686579 (GRCh38)
8:82598814 (GRCh37)
Canonical SPDI:: NC_000008.11:81686572:CATTCATTCA:CATTCA
Gene:: IMPA1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATTCA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000008.11:g.81686575TTCA[1], NC_000008.10:g.82598810TTCA[1], NG_015829.1:g.4775AATG[1]

Select item 149030280317.

rs1490302803 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:81678081 (GRCh38)
8:82590316 (GRCh37)
Canonical SPDI:: NC_000008.11:81678080:G:A
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000008.11:g.81678081G>A, NC_000008.10:g.82590316G>A, NG_015829.1:g.13274C>T

Select item 149016343918.

rs1490163439 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAGCA>- [Show Flanks]
Chromosome:: 8:81666894 (GRCh38)
8:82579129 (GRCh37)
Canonical SPDI:: NC_000008.11:81666892:AAAAGCA:A
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000187/26 (GnomAD)
HGVS:: NC_000008.11:g.81666894_81666899del, NC_000008.10:g.82579129_82579134del, NG_015829.1:g.24457_24462del

Select item 149010420019.

rs1490104200 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:81680754 (GRCh38)
8:82592989 (GRCh37)
Canonical SPDI:: NC_000008.11:81680753:C:A
Gene:: IMPA1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.81680754C>A, NC_000008.10:g.82592989C>A, NG_015829.1:g.10601G>T, NM_005536.4:c.93G>T, NM_005536.3:c.93G>T, NM_001144878.2:c.270G>T, NM_001144878.1:c.270G>T, NM_001144879.2:c.93G>T, NM_001144879.1:c.93G>T, NP_005527.1:p.Met31Ile, NP_001138350.1:p.Met90Ile, NP_001138351.1:p.Met31Ile

Select item 149001885520.

rs1490018855 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:81685198 (GRCh38)
8:82597433 (GRCh37)
Canonical SPDI:: NC_000008.11:81685197:T:
Gene:: IMPA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.81685198del, NC_000008.10:g.82597433del, NG_015829.1:g.6157del

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