SNP Links for Gene (Select 23178) - SNP

Links from Gene

Items: 1 to 20 of 12685

<< First< Prev

Page of 635

Next >Last >>

Select item 14914666011.

rs1491466601 has merged into rs36063946 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:241132064 (GRCh38)
2:242071479 (GRCh37)
Canonical SPDI:: NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:241132052:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PASK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.3782/1894 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000002.12:g.241132064_241132072del, NC_000002.12:g.241132066_241132072del, NC_000002.12:g.241132067_241132072del, NC_000002.12:g.241132068_241132072del, NC_000002.12:g.241132069_241132072del, NC_000002.12:g.241132070_241132072del, NC_000002.12:g.241132071_241132072del, NC_000002.12:g.241132072del, NC_000002.12:g.241132072dup, NC_000002.12:g.241132071_241132072dup, NC_000002.12:g.241132070_241132072dup, NC_000002.12:g.241132068_241132072dup, NC_000002.11:g.242071479_242071487del, NC_000002.11:g.242071481_242071487del, NC_000002.11:g.242071482_242071487del, NC_000002.11:g.242071483_242071487del, NC_000002.11:g.242071484_242071487del, NC_000002.11:g.242071485_242071487del, NC_000002.11:g.242071486_242071487del, NC_000002.11:g.242071487del, NC_000002.11:g.242071487dup, NC_000002.11:g.242071486_242071487dup, NC_000002.11:g.242071485_242071487dup, NC_000002.11:g.242071483_242071487dup, NG_052850.1:g.23287_23295del, NG_052850.1:g.23289_23295del, NG_052850.1:g.23290_23295del, NG_052850.1:g.23291_23295del, NG_052850.1:g.23292_23295del, NG_052850.1:g.23293_23295del, NG_052850.1:g.23294_23295del, NG_052850.1:g.23295del, NG_052850.1:g.23295dup, NG_052850.1:g.23294_23295dup, NG_052850.1:g.23293_23295dup, NG_052850.1:g.23291_23295dup

Select item 14914602532.

rs1491460253 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:241144939 (GRCh38)
2:242084354 (GRCh37)
Canonical SPDI:: NC_000002.12:241144936:AGAG:AG
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.241144937AG[1], NC_000002.11:g.242084352AG[1], NG_052850.1:g.10408CT[1]

Select item 14914283893.

rs1491428389 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCTC [Show Flanks]
Chromosome:: 2:241109565 (GRCh38)
2:242048981 (GRCh37)
Canonical SPDI:: NC_000002.12:241109565:GGCTC:GGCTCGGCTC
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGCTCGGCTC=0.000169/2 (ALFA)
GGCTC=0.000152/21 (GnomAD)
HGVS:: NC_000002.12:g.241109566_241109570dup, NC_000002.11:g.242048981_242048985dup, NG_052850.1:g.45778_45782dup

Select item 14914159664.

rs1491415966 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:241119468 (GRCh38)
2:242058883 (GRCh37)
Canonical SPDI:: NC_000002.12:241119466:TCT:T
Gene:: PASK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000674/8 (ALFA)
-=0.000354/6 (TOMMO)
-=0.000383/47 (GnomAD)
-=0.001093/2 (Korea1K)
HGVS:: NC_000002.12:g.241119468_241119469del, NC_000002.11:g.242058883_242058884del, NG_052850.1:g.35880_35881del

Select item 14913753865.

rs1491375386 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:241132052 (GRCh38)
2:242071467 (GRCh37)
Canonical SPDI:: NC_000002.12:241132051:CA:
Gene:: PASK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01222/145 (ALFA)
-=0.00234/66 (TOMMO)
HGVS:: NC_000002.12:g.241132052_241132053del, NC_000002.11:g.242071467_242071468del, NG_052850.1:g.23295_23296del

Select item 14913722926.

rs1491372292 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:241133982 (GRCh38)
2:242073397 (GRCh37)
Canonical SPDI:: NC_000002.12:241133981:CA:
Gene:: PASK (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.241133982_241133983del, NC_000002.11:g.242073397_242073398del, NG_052850.1:g.21365_21366del

Select item 14913442177.

rs1491344217 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:241145711 (GRCh38)
2:242085126 (GRCh37)
Canonical SPDI:: NC_000002.12:241145710:CT:
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.241145711_241145712del, NC_000002.11:g.242085126_242085127del, NG_052850.1:g.9636_9637del

Select item 14912881588.

rs1491288158 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 2:241133978 (GRCh38)
2:242073393 (GRCh37)
Canonical SPDI:: NC_000002.12:241133976:TGT:T
Gene:: PASK (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0013/5 (ALSPAC)
HGVS:: NC_000002.12:g.241133978_241133979del, NC_000002.11:g.242073393_242073394del, NG_052850.1:g.21370_21371del

Select item 14912849169.

rs1491284916 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:241119467 (GRCh38)
2:242058883 (GRCh37)
Canonical SPDI:: NC_000002.12:241119467:C:CC
Gene:: PASK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000033/4 (GnomAD)
HGVS:: NC_000002.12:g.241119468dup, NC_000002.11:g.242058883dup, NG_052850.1:g.35880dup

Select item 149121508910.

rs1491215089 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:241137538 (GRCh38)
2:242076953 (GRCh37)
Canonical SPDI:: NC_000002.12:241137537:CA:
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241137538_241137539del, NC_000002.11:g.242076953_242076954del, NG_052850.1:g.17809_17810del

Select item 149119765511.

rs1491197655 has merged into rs1305676383 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGG>-,GAGGGAGG [Show Flanks]
Chromosome:: 2:241137554 (GRCh38)
2:242076969 (GRCh37)
Canonical SPDI:: NC_000002.12:241137538:AGGGAGGGAGGGAGGGAGG:AGGGAGGGAGGGAGG,NC_000002.12:241137538:AGGGAGGGAGGGAGGGAGG:AGGGAGGGAGGGAGGGAGGGAGG
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGGGAGGGAGGGAGGGAGGGAGG=0./0 (ALFA)
AGGG=0.00016/1 (1000Genomes)
HGVS:: NC_000002.12:g.241137542GAGG[3], NC_000002.12:g.241137542GAGG[5], NC_000002.11:g.242076957GAGG[3], NC_000002.11:g.242076957GAGG[5], NG_052850.1:g.17794CCCT[3], NG_052850.1:g.17794CCCT[5]

Select item 149117023912.

rs1491170239 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G [Show Flanks]
Chromosome:: 2:241109566 (GRCh38)
2:242048981 (GRCh37)
Canonical SPDI:: NC_000002.12:241109564:GGG:G,NC_000002.12:241109564:GGG:GG
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.241109566_241109567del, NC_000002.12:g.241109567del, NC_000002.11:g.242048981_242048982del, NC_000002.11:g.242048982del, NG_052850.1:g.45782_45783del, NG_052850.1:g.45783del

Select item 149116313513.

rs1491163135 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:241132349 (GRCh38)
2:242071764 (GRCh37)
Canonical SPDI:: NC_000002.12:241132348:TA:
Gene:: PASK (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241132349_241132350del, NC_000002.11:g.242071764_242071765del, NG_052850.1:g.22998_22999del

Select item 149116110114.

rs1491161101 [Homo sapiens]

Variant type:: INS
Alleles:: ->CC [Show Flanks]
Chromosome:: 2:241144937 (GRCh38)
2:242084353 (GRCh37)
Canonical SPDI:: NC_000002.12:241144937::CC
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
CC=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241144937_241144938insCC, NC_000002.11:g.242084352_242084353insCC, NG_052850.1:g.10410_10411insGG

Select item 149100957115.

rs1491009571 [Homo sapiens]

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

Select item 149094188716.

rs1490941887 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 2:241145184 (GRCh38)
2:242084599 (GRCh37)
Canonical SPDI:: NC_000002.12:241145183:A:
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.241145184del, NC_000002.11:g.242084599del, NG_052850.1:g.10164del

Select item 149082613817.

rs1490826138 [Homo sapiens]

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

Select item 149079791618.

rs1490797916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241113491 (GRCh38)
2:242052906 (GRCh37)
Canonical SPDI:: NC_000002.12:241113490:T:C
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000002.12:g.241113491T>C, NC_000002.11:g.242052906T>C, NG_052850.1:g.41857A>G, NM_001252124.2:c.*1453A>G, XM_011510834.2:c.*1453A>G

Select item 149076014919.

rs1490760149 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:241138915 (GRCh38)
2:242078330 (GRCh37)
Canonical SPDI:: NC_000002.12:241138914:C:A
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000078/11 (GnomAD)
HGVS:: NC_000002.12:g.241138915C>A, NC_000002.11:g.242078330C>A, NG_052850.1:g.16433G>T

Select item 149066776520.

rs1490667765 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241112739 (GRCh38)
2:242052154 (GRCh37)
Canonical SPDI:: NC_000002.12:241112738:C:T
Gene:: PASK (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.241112739C>T, NC_000002.11:g.242052154C>T, NG_052850.1:g.42609G>A

<< First< Prev

Page of 635

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 12685

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity