SNP Links for Gene (Select 64978) - SNP

Links from Gene

Items: 1 to 20 of 2502

<< First< Prev

Page of 126

Next >Last >>

Select item 14915774451.

rs1491577445 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:75905951 (GRCh38)
17:73902032 (GRCh37)
Canonical SPDI:: NC_000017.11:75905950:CA:
Gene:: MRPL38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.000843/10 (ALFA)
-=0.000704/94 (GnomAD)
HGVS:: NC_000017.11:g.75905951_75905952del, NC_000017.10:g.73902032_73902033del

Select item 14914861672.

rs1491486167 has merged into rs60117388 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCC>-,CCC,CCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 17:75905947 (GRCh38)
17:73902028 (GRCh37)
Canonical SPDI:: NC_000017.11:75905941:CCCCCCCCCC:CCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000017.11:75905941:CCCCCCCCCC:CCCCCCCCCCCCCCCCCCCC
Gene:: MRPL38 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000017.11:g.75905947_75905951del, NC_000017.11:g.75905950_75905951del, NC_000017.11:g.75905951del, NC_000017.11:g.75905951dup, NC_000017.11:g.75905950_75905951dup, NC_000017.11:g.75905949_75905951dup, NC_000017.11:g.75905948_75905951dup, NC_000017.11:g.75905947_75905951dup, NC_000017.11:g.75905946_75905951dup, NC_000017.11:g.75905945_75905951dup, NC_000017.11:g.75905944_75905951dup, NC_000017.11:g.75905943_75905951dup, NC_000017.11:g.75905942_75905951dup, NC_000017.10:g.73902028_73902032del, NC_000017.10:g.73902031_73902032del, NC_000017.10:g.73902032del, NC_000017.10:g.73902032dup, NC_000017.10:g.73902031_73902032dup, NC_000017.10:g.73902030_73902032dup, NC_000017.10:g.73902029_73902032dup, NC_000017.10:g.73902028_73902032dup, NC_000017.10:g.73902027_73902032dup, NC_000017.10:g.73902026_73902032dup, NC_000017.10:g.73902025_73902032dup, NC_000017.10:g.73902024_73902032dup, NC_000017.10:g.73902023_73902032dup

Select item 14914023993.

rs1491402399 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:75905942 (GRCh38)
17:73902024 (GRCh37)
Canonical SPDI:: NC_000017.11:75905942::T
Gene:: MRPL38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75905942_75905943insT, NC_000017.10:g.73902023_73902024insT

Select item 14913840374.

rs1491384037 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA,CAA,CCA,CCAA,CCCA,CCCCA,CCCCCA,CCCCCCA [Show Flanks]
Chromosome:: 17:75905951 (GRCh38)
17:73902033 (GRCh37)
Canonical SPDI:: NC_000017.11:75905951::CA,NC_000017.11:75905951::CAA,NC_000017.11:75905951::CCA,NC_000017.11:75905951::CCAA,NC_000017.11:75905951::CCCA,NC_000017.11:75905951::CCCCA,NC_000017.11:75905951::CCCCCA,NC_000017.11:75905951::CCCCCCA
Gene:: MRPL38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAA=0./0 (ALFA)
CCAA=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75905951_75905952insCA, NC_000017.11:g.75905951_75905952insCAA, NC_000017.11:g.75905951_75905952insCCA, NC_000017.11:g.75905951_75905952insCCAA, NC_000017.11:g.75905951_75905952insCCCA, NC_000017.11:g.75905951_75905952insCCCCA, NC_000017.11:g.75905951_75905952insCCCCCA, NC_000017.11:g.75905951_75905952insCCCCCCA, NC_000017.10:g.73902032_73902033insCA, NC_000017.10:g.73902032_73902033insCAA, NC_000017.10:g.73902032_73902033insCCA, NC_000017.10:g.73902032_73902033insCCAA, NC_000017.10:g.73902032_73902033insCCCA, NC_000017.10:g.73902032_73902033insCCCCA, NC_000017.10:g.73902032_73902033insCCCCCA, NC_000017.10:g.73902032_73902033insCCCCCCA

Select item 14906943595.

rs1490694359 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:75902470 (GRCh38)
17:73898551 (GRCh37)
Canonical SPDI:: NC_000017.11:75902469:C:A
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75902470C>A, NC_000017.10:g.73898551C>A

Select item 14902141706.

rs1490214170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:75906837 (GRCh38)
17:73902918 (GRCh37)
Canonical SPDI:: NC_000017.11:75906836:T:C,NC_000017.11:75906836:T:G
Gene:: MRPL38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000016/2 (GnomAD)
G=0.011301/33 (KOREAN)
HGVS:: NC_000017.11:g.75906837T>C, NC_000017.11:g.75906837T>G, NC_000017.10:g.73902918T>C, NC_000017.10:g.73902918T>G

Select item 14897056997.

rs1489705699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:75899683 (GRCh38)
17:73895764 (GRCh37)
Canonical SPDI:: NC_000017.11:75899682:A:G
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.75899683A>G, NC_000017.10:g.73895764A>G

Select item 14896542748.

rs1489654274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75900611 (GRCh38)
17:73896692 (GRCh37)
Canonical SPDI:: NC_000017.11:75900610:C:T
Gene:: MRPL38 (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_000017.11:g.75900611C>T, NC_000017.10:g.73896692C>T

Select item 14894448619.

rs1489444861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75903547 (GRCh38)
17:73899628 (GRCh37)
Canonical SPDI:: NC_000017.11:75903546:G:T
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.75903547G>T, NC_000017.10:g.73899628G>T

Select item 148940189110.

rs1489401891 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75900289 (GRCh38)
17:73896370 (GRCh37)
Canonical SPDI:: NC_000017.11:75900288:C:T
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.75900289C>T, NC_000017.10:g.73896370C>T

Select item 148925587311.

rs1489255873 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75902006 (GRCh38)
17:73898087 (GRCh37)
Canonical SPDI:: NC_000017.11:75902005:C:T
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.75902006C>T, NC_000017.10:g.73898087C>T

Select item 148879752612.

rs1488797526 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 17:75899788 (GRCh38)
17:73895869 (GRCh37)
Canonical SPDI:: NC_000017.11:75899787:G:
Gene:: MRPL38 (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_000017.11:g.75899788del, NC_000017.10:g.73895869del

Select item 148842052013.

rs1488420520 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:75900697 (GRCh38)
17:73896778 (GRCh37)
Canonical SPDI:: NC_000017.11:75900696:G:T
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.75900697G>T, NC_000017.10:g.73896778G>T

Select item 148825562914.

rs1488255629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:75905137 (GRCh38)
17:73901218 (GRCh37)
Canonical SPDI:: NC_000017.11:75905136:G:A
Gene:: MRPL38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.75905137G>A, NC_000017.10:g.73901218G>A

Select item 148776668915.

rs1487766689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:75899929 (GRCh38)
17:73896010 (GRCh37)
Canonical SPDI:: NC_000017.11:75899928:C:G,NC_000017.11:75899928:C:T
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.75899929C>G, NC_000017.11:g.75899929C>T, NC_000017.10:g.73896010C>G, NC_000017.10:g.73896010C>T

Select item 148770836916.

rs1487708369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:75904023 (GRCh38)
17:73900104 (GRCh37)
Canonical SPDI:: NC_000017.11:75904022:C:A,NC_000017.11:75904022:C:T
Gene:: MRPL38 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75904023C>A, NC_000017.11:g.75904023C>T, NC_000017.10:g.73900104C>A, NC_000017.10:g.73900104C>T

Select item 148757679217.

rs1487576792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:75905948 (GRCh38)
17:73902029 (GRCh37)
Canonical SPDI:: NC_000017.11:75905947:C:A,NC_000017.11:75905947:C:G,NC_000017.11:75905947:C:T
Gene:: MRPL38 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.75905948C>A, NC_000017.11:g.75905948C>G, NC_000017.11:g.75905948C>T, NC_000017.10:g.73902029C>A, NC_000017.10:g.73902029C>G, NC_000017.10:g.73902029C>T

Select item 148741753418.

rs1487417534 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:75906952 (GRCh38)
17:73903033 (GRCh37)
Canonical SPDI:: NC_000017.11:75906951:T:C,NC_000017.11:75906951:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.75906952T>C, NC_000017.11:g.75906952T>G, NC_000017.10:g.73903033T>C, NC_000017.10:g.73903033T>G

Select item 148733070519.

rs1487330705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:75898976 (GRCh38)
17:73895057 (GRCh37)
Canonical SPDI:: NC_000017.11:75898975:C:T
Gene:: MRPL38 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.75898976C>T, NC_000017.10:g.73895057C>T, NM_032478.4:c.1017G>A, NM_032478.3:c.1017G>A

Select item 148716397320.

rs1487163973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:75899416 (GRCh38)
17:73895497 (GRCh37)
Canonical SPDI:: NC_000017.11:75899415:C:A
Gene:: MRPL38 (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_000017.11:g.75899416C>A, NC_000017.10:g.73895497C>A

<< First< Prev

Page of 126

Next >Last >>

dbSNP

Result Filters

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 2502

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity