SNP Links for Gene (Select 137872) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915809771.

rs1491580977 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 8:66459411 (GRCh38)
8:67371647 (GRCh37)
Canonical SPDI:: NC_000008.11:66459411:A:ACA
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000008.11:g.66459412_66459413insCA, NC_000008.10:g.67371647_67371648insCA

Select item 14912807882.

rs1491280788 has merged into rs5892055 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:66459437 (GRCh38)
8:67371672 (GRCh37)
Canonical SPDI:: NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:66459430:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
T=0.45887/2298 (1000Genomes)
HGVS:: NC_000008.11:g.66459437_66459446del, NC_000008.11:g.66459438_66459446del, NC_000008.11:g.66459439_66459446del, NC_000008.11:g.66459440_66459446del, NC_000008.11:g.66459441_66459446del, NC_000008.11:g.66459442_66459446del, NC_000008.11:g.66459443_66459446del, NC_000008.11:g.66459444_66459446del, NC_000008.11:g.66459445_66459446del, NC_000008.11:g.66459446del, NC_000008.11:g.66459446dup, NC_000008.11:g.66459445_66459446dup, NC_000008.11:g.66459444_66459446dup, NC_000008.11:g.66459443_66459446dup, NC_000008.11:g.66459442_66459446dup, NC_000008.10:g.67371672_67371681del, NC_000008.10:g.67371673_67371681del, NC_000008.10:g.67371674_67371681del, NC_000008.10:g.67371675_67371681del, NC_000008.10:g.67371676_67371681del, NC_000008.10:g.67371677_67371681del, NC_000008.10:g.67371678_67371681del, NC_000008.10:g.67371679_67371681del, NC_000008.10:g.67371680_67371681del, NC_000008.10:g.67371681del, NC_000008.10:g.67371681dup, NC_000008.10:g.67371680_67371681dup, NC_000008.10:g.67371679_67371681dup, NC_000008.10:g.67371678_67371681dup, NC_000008.10:g.67371677_67371681dup

Select item 14910354523.

rs1491035452 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 8:66455962 (GRCh38)
8:67368197 (GRCh37)
Canonical SPDI:: NC_000008.11:66455961:AAAAAAAA:AAAAAAA,NC_000008.11:66455961:AAAAAAAA:AAAAAAAAA
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000079/11 (GnomAD)
HGVS:: NC_000008.11:g.66455969del, NC_000008.11:g.66455969dup, NC_000008.10:g.67368204del, NC_000008.10:g.67368204dup

Select item 14909434404.

rs1490943440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:66452214 (GRCh38)
8:67364449 (GRCh37)
Canonical SPDI:: NC_000008.11:66452213:A:G
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.66452214A>G, NC_000008.10:g.67364449A>G

Select item 14908729425.

rs1490872942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:66440805 (GRCh38)
8:67353040 (GRCh37)
Canonical SPDI:: NC_000008.11:66440804:C:A
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000049/13 (TOPMED)
HGVS:: NC_000008.11:g.66440805C>A, NC_000008.10:g.67353040C>A

Select item 14908403166.

rs1490840316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:66466419 (GRCh38)
8:67378654 (GRCh37)
Canonical SPDI:: NC_000008.11:66466418:T:C
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.66466419T>C, NC_000008.10:g.67378654T>C

Select item 14907561577.

rs1490756157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:66448627 (GRCh38)
8:67360862 (GRCh37)
Canonical SPDI:: NC_000008.11:66448626:G:C
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.66448627G>C, NC_000008.10:g.67360862G>C

Select item 14907251008.

rs1490725100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 8:66454877 (GRCh38)
8:67367112 (GRCh37)
Canonical SPDI:: NC_000008.11:66454876:C:A,NC_000008.11:66454876:C:G,NC_000008.11:66454876:C:T
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.66454877C>A, NC_000008.11:g.66454877C>G, NC_000008.11:g.66454877C>T, NC_000008.10:g.67367112C>A, NC_000008.10:g.67367112C>G, NC_000008.10:g.67367112C>T

Select item 14906910359.

rs1490691035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:66465504 (GRCh38)
8:67377739 (GRCh37)
Canonical SPDI:: NC_000008.11:66465503:T:G
Gene:: ADHFE1 (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_000008.11:g.66465504T>G, NC_000008.10:g.67377739T>G

Select item 149059268710.

rs1490592687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:66433762 (GRCh38)
8:67345997 (GRCh37)
Canonical SPDI:: NC_000008.11:66433761:G:A
Gene:: ADHFE1 (Varview), LOC102724687 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.00003/8 (TOPMED)
A=0.000106/3 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000008.11:g.66433762G>A, NC_000008.10:g.67345997G>A

Select item 149052408711.

rs1490524087 [Homo sapiens]

Variant type:: DEL
Alleles:: TTACTCACTGAGAAGGTAATG>- [Show Flanks]
Chromosome:: 8:66436323 (GRCh38)
8:67348558 (GRCh37)
Canonical SPDI:: NC_000008.11:66436322:TTACTCACTGAGAAGGTAATG:
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000008.11:g.66436323_66436343del, NC_000008.10:g.67348558_67348578del

Select item 149048831312.

rs1490488313 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:66456963 (GRCh38)
8:67369198 (GRCh37)
Canonical SPDI:: NC_000008.11:66456962:C:T
Gene:: ADHFE1 (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_000008.11:g.66456963C>T, NC_000008.10:g.67369198C>T

Select item 149038343813.

rs1490383438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:66440178 (GRCh38)
8:67352413 (GRCh37)
Canonical SPDI:: NC_000008.11:66440177:C:T
Gene:: ADHFE1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.66440178C>T, NC_000008.10:g.67352413C>T, NM_144650.3:c.76C>T, NM_144650.2:c.76C>T, NM_001077593.1:c.76C>T, NP_653251.2:p.His26Tyr

Select item 149023097814.

rs1490230978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:66455983 (GRCh38)
8:67368218 (GRCh37)
Canonical SPDI:: NC_000008.11:66455982:C:T
Gene:: ADHFE1 (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_000008.11:g.66455983C>T, NC_000008.10:g.67368218C>T

Select item 149016101915.

rs1490161019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:66457871 (GRCh38)
8:67370106 (GRCh37)
Canonical SPDI:: NC_000008.11:66457870:A:G
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.66457871A>G, NC_000008.10:g.67370106A>G

Select item 149015322116.

rs1490153221 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:66437322 (GRCh38)
8:67349557 (GRCh37)
Canonical SPDI:: NC_000008.11:66437321:C:T
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000071/2 (TOMMO)
HGVS:: NC_000008.11:g.66437322C>T, NC_000008.10:g.67349557C>T

Select item 149010928517.

rs1490109285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:66458836 (GRCh38)
8:67371071 (GRCh37)
Canonical SPDI:: NC_000008.11:66458835:G:T
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000008.11:g.66458836G>T, NC_000008.10:g.67371071G>T

Select item 148998227818.

rs1489982278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:66454673 (GRCh38)
8:67366908 (GRCh37)
Canonical SPDI:: NC_000008.11:66454672:C:G
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.66454673C>G, NC_000008.10:g.67366908C>G

Select item 148994126519.

rs1489941265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:66434937 (GRCh38)
8:67347172 (GRCh37)
Canonical SPDI:: NC_000008.11:66434936:C:T
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.66434937C>T, NC_000008.10:g.67347172C>T

Select item 148991113820.

rs1489911138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:66450266 (GRCh38)
8:67362501 (GRCh37)
Canonical SPDI:: NC_000008.11:66450265:A:G
Gene:: ADHFE1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.00463/1 (Vietnamese)
HGVS:: NC_000008.11:g.66450266A>G, NC_000008.10:g.67362501A>G

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity