SNP Links for Gene (Select 64083) - SNP

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 20 of 13078

<< First< Prev

Page of 654

Next >Last >>

Select item 14915332271.

rs1491533227 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 5:32161094 (GRCh38)
5:32161200 (GRCh37)
Canonical SPDI:: NC_000005.10:32161093:TT:T,NC_000005.10:32161093:TT:TTT
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000027/3 (GnomAD)
HGVS:: NC_000005.10:g.32161095del, NC_000005.10:g.32161095dup, NC_000005.9:g.32161201del, NC_000005.9:g.32161201dup

Select item 14915108402.

rs1491510840 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACA,ACACACT,ACACACTG,ACACT,ACACTG,ACT,ACTG,AT,T,TG [Show Flanks]
Chromosome:: 5:32158174 (GRCh38)
5:32158281 (GRCh37)
Canonical SPDI:: NC_000005.10:32158174::ACA,NC_000005.10:32158174::ACACACT,NC_000005.10:32158174::ACACACTG,NC_000005.10:32158174::ACACT,NC_000005.10:32158174::ACACTG,NC_000005.10:32158174::ACT,NC_000005.10:32158174::ACTG,NC_000005.10:32158174::AT,NC_000005.10:32158174::T,NC_000005.10:32158174::TG
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00129/21 (ALFA)
TG=0.00164/3 (Korea1K)
HGVS:: NC_000005.10:g.32158174_32158175insACA, NC_000005.10:g.32158174_32158175insACACACT, NC_000005.10:g.32158174_32158175insACACACTG, NC_000005.10:g.32158174_32158175insACACT, NC_000005.10:g.32158174_32158175insACACTG, NC_000005.10:g.32158174_32158175insACT, NC_000005.10:g.32158174_32158175insACTG, NC_000005.10:g.32158174_32158175insAT, NC_000005.10:g.32158174_32158175insT, NC_000005.10:g.32158174_32158175insTG, NC_000005.9:g.32158280_32158281insACA, NC_000005.9:g.32158280_32158281insACACACT, NC_000005.9:g.32158280_32158281insACACACTG, NC_000005.9:g.32158280_32158281insACACT, NC_000005.9:g.32158280_32158281insACACTG, NC_000005.9:g.32158280_32158281insACT, NC_000005.9:g.32158280_32158281insACTG, NC_000005.9:g.32158280_32158281insAT, NC_000005.9:g.32158280_32158281insT, NC_000005.9:g.32158280_32158281insTG

Select item 14914191713.

rs1491419171 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:32161066 (GRCh38)
5:32161172 (GRCh37)
Canonical SPDI:: NC_000005.10:32161065:CA:
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00152/18 (ALFA)
-=0.00232/59 (TOMMO)
HGVS:: NC_000005.10:g.32161066_32161067del, NC_000005.9:g.32161172_32161173del

Select item 14911922724.

rs1491192272 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:32161093 (GRCh38)
5:32161199 (GRCh37)
Canonical SPDI:: NC_000005.10:32161092:AT:
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.0003/5 (TOMMO)
HGVS:: NC_000005.10:g.32161093_32161094del, NC_000005.9:g.32161199_32161200del

Select item 14911383655.

rs1491138365 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 5:32158174 (GRCh38)
5:32158280 (GRCh37)
Canonical SPDI:: NC_000005.10:32158173:CG:
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.32158174_32158175del, NC_000005.9:g.32158280_32158281del

Select item 14911092786.

rs1491109278 has merged into rs1554049234 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 5:32158023 (GRCh38)
5:32158129 (GRCh37)
Canonical SPDI:: NC_000005.10:32158021:ATA:A,NC_000005.10:32158021:ATA:ATATA
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.000004/1 (TOPMED)
AT=0.000066/1 (GnomAD)
-=0.075782/281 (TWINSUK)
-=0.080436/310 (ALSPAC)
HGVS:: NC_000005.10:g.32158023_32158024del, NC_000005.10:g.32158023_32158024dup, NC_000005.9:g.32158129_32158130del, NC_000005.9:g.32158129_32158130dup

Select item 14910836327.

rs1491083632 has merged into rs201553416 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 5:32164408 (GRCh38)
5:32164514 (GRCh37)
Canonical SPDI:: NC_000005.10:32164398:TTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:32164398:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:32164398:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:32164398:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:32164398:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.015/9 (NorthernSweden)
T=0.1/4 (GENOME_DK)
HGVS:: NC_000005.10:g.32164408_32164411del, NC_000005.10:g.32164410_32164411del, NC_000005.10:g.32164411del, NC_000005.10:g.32164411dup, NC_000005.10:g.32164410_32164411dup, NC_000005.9:g.32164514_32164517del, NC_000005.9:g.32164516_32164517del, NC_000005.9:g.32164517del, NC_000005.9:g.32164517dup, NC_000005.9:g.32164516_32164517dup

Select item 14910713418.

rs1491071341 has merged into rs1379826912 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA,AAAA,AAAAA,AAAAAAA [Show Flanks]
Chromosome:: 5:32158129 (GRCh38)
5:32158235 (GRCh37)
Canonical SPDI:: NC_000005.10:32158127:AAAA:A,NC_000005.10:32158127:AAAA:AAA,NC_000005.10:32158127:AAAA:AAAAA,NC_000005.10:32158127:AAAA:AAAAAA,NC_000005.10:32158127:AAAA:AAAAAAAA
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00016/2 (TOMMO)
-=0.01674/8 (NorthernSweden)
HGVS:: NC_000005.10:g.32158129_32158131del, NC_000005.10:g.32158131del, NC_000005.10:g.32158131dup, NC_000005.10:g.32158130_32158131dup, NC_000005.10:g.32158128_32158131dup, NC_000005.9:g.32158235_32158237del, NC_000005.9:g.32158237del, NC_000005.9:g.32158237dup, NC_000005.9:g.32158236_32158237dup, NC_000005.9:g.32158234_32158237dup

Select item 14910232599.

rs1491023259 has merged into rs34927671 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 5:32151233 (GRCh38)
5:32151339 (GRCh37)
Canonical SPDI:: NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:32151218:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1268/635 (1000Genomes)
HGVS:: NC_000005.10:g.32151233_32151234del, NC_000005.10:g.32151234del, NC_000005.10:g.32151234dup, NC_000005.10:g.32151233_32151234dup, NC_000005.10:g.32151232_32151234dup, NC_000005.10:g.32151231_32151234dup, NC_000005.10:g.32151226_32151234dup, NC_000005.9:g.32151339_32151340del, NC_000005.9:g.32151340del, NC_000005.9:g.32151340dup, NC_000005.9:g.32151339_32151340dup, NC_000005.9:g.32151338_32151340dup, NC_000005.9:g.32151337_32151340dup, NC_000005.9:g.32151332_32151340dup

Select item 149097059010.

rs1490970590 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32138102 (GRCh38)
5:32138208 (GRCh37)
Canonical SPDI:: NC_000005.10:32138101:T:C
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.32138102T>C, NC_000005.9:g.32138208T>C

Select item 149090306711.

rs1490903067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:32175552 (GRCh38)
5:32175658 (GRCh37)
Canonical SPDI:: NC_000005.10:32175551:G:T
Gene:: GOLPH3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.32175552G>T, NC_000005.9:g.32175658G>T

Select item 149075868812.

rs1490758688 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:32150997 (GRCh38)
5:32151103 (GRCh37)
Canonical SPDI:: NC_000005.10:32150996:A:T
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.32150997A>T, NC_000005.9:g.32151103A>T

Select item 149072780313.

rs1490727803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 5:32176311 (GRCh38)
5:32176417 (GRCh37)
Canonical SPDI:: NC_000005.10:32176310:C:A,NC_000005.10:32176310:C:T
Gene:: GOLPH3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.32176311C>A, NC_000005.10:g.32176311C>T, NC_000005.9:g.32176417C>A, NC_000005.9:g.32176417C>T

Select item 149070519014.

rs1490705190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:32163094 (GRCh38)
5:32163200 (GRCh37)
Canonical SPDI:: NC_000005.10:32163093:A:G
Gene:: GOLPH3 (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_000005.10:g.32163094A>G, NC_000005.9:g.32163200A>G

Select item 149070003715.

rs1490700037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 5:32163953 (GRCh38)
5:32164059 (GRCh37)
Canonical SPDI:: NC_000005.10:32163952:G:C
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
C=0.000057/8 (GnomAD)
HGVS:: NC_000005.10:g.32163953G>C, NC_000005.9:g.32164059G>C

Select item 149060899816.

rs1490608998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:32158119 (GRCh38)
5:32158225 (GRCh37)
Canonical SPDI:: NC_000005.10:32158118:T:A,NC_000005.10:32158118:T:C
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.32158119T>A, NC_000005.10:g.32158119T>C, NC_000005.9:g.32158225T>A, NC_000005.9:g.32158225T>C

Select item 149058210617.

rs1490582106 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:32127966 (GRCh38)
5:32128072 (GRCh37)
Canonical SPDI:: NC_000005.10:32127965:A:C
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.32127966A>C, NC_000005.9:g.32128072A>C

Select item 149055822118.

rs1490558221 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:32131609 (GRCh38)
5:32131715 (GRCh37)
Canonical SPDI:: NC_000005.10:32131608:T:C
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000053/14 (TOPMED)
HGVS:: NC_000005.10:g.32131609T>C, NC_000005.9:g.32131715T>C

Select item 149051781419.

rs1490517814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:32158126 (GRCh38)
5:32158232 (GRCh37)
Canonical SPDI:: NC_000005.10:32158125:A:G
Gene:: GOLPH3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00008/4 (GnomAD)
HGVS:: NC_000005.10:g.32158126A>G, NC_000005.9:g.32158232A>G

Select item 149051356720.

rs1490513567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:32124265 (GRCh38)
5:32124371 (GRCh37)
Canonical SPDI:: NC_000005.10:32124264:G:T
Gene:: GOLPH3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.32124265G>T, NC_000005.9:g.32124371G>T

<< First< Prev

Page of 654

Next >Last >>

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Gene (Select 64083) (13078)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to: