SNP Links for Gene (Select 57380) - SNP

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Select item 14914669011.

rs1491466901 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:24419533 (GRCh38)
6:24419761 (GRCh37)
Canonical SPDI:: NC_000006.12:24419531:ATA:A
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.24419533_24419534del, NC_000006.11:g.24419761_24419762del

Select item 14914569212.

rs1491456921 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:24420163 (GRCh38)
6:24420392 (GRCh37)
Canonical SPDI:: NC_000006.12:24420163:A:AA
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.24420164dup, NC_000006.11:g.24420392dup

Select item 14914536653.

rs1491453665 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:24420163 (GRCh38)
6:24420391 (GRCh37)
Canonical SPDI:: NC_000006.12:24420162:CA:
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.24420163_24420164del, NC_000006.11:g.24420391_24420392del

Select item 14914049514.

rs1491404951 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:24422042 (GRCh38)
6:24422271 (GRCh37)
Canonical SPDI:: NC_000006.12:24422042:GGGGGG:GGGGGGG
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
G=0.000055/6 (GnomAD)
G=0.000068/18 (TOPMED)
HGVS:: NC_000006.12:g.24422048dup, NC_000006.11:g.24422276dup

Select item 14913664885.

rs1491366488 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:24418353 (GRCh38)
6:24418581 (GRCh37)
Canonical SPDI:: NC_000006.12:24418351:TAT:T
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000045/6 (GnomAD)
-=0.010783/54 (1000Genomes)
HGVS:: NC_000006.12:g.24418353_24418354del, NC_000006.11:g.24418581_24418582del

Select item 14913345546.

rs1491334554 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:24424220 (GRCh38)
6:24424448 (GRCh37)
Canonical SPDI:: NC_000006.12:24424219:CT:
Gene:: GPLD1 (Varview), MRS2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000006.12:g.24424220_24424221del, NC_000006.11:g.24424448_24424449del, NG_029888.2:g.70402_70403del, NM_020662.4:c.*526_*527del, NM_020662.3:c.*526_*527del, NM_020662.2:c.*526_*527del, XM_005249242.3:c.*526_*527del, XM_005249242.2:c.*526_*527del, XM_005249242.1:c.*526_*527del, NM_001286264.2:c.*526_*527del, NM_001286264.1:c.*526_*527del, NR_104423.2:n.1912_1913del, NR_104423.1:n.1940_1941del, NM_001286266.2:c.*526_*527del, NM_001286266.1:c.*526_*527del, XR_007059240.1:n.3649_3650del

Select item 14912047237.

rs1491204723 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:24409539 (GRCh38)
6:24409767 (GRCh37)
Canonical SPDI:: NC_000006.12:24409536:CACA:CA
Gene:: MRS2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.24409537CA[1], NC_000006.11:g.24409765CA[1], NM_020662.4:c.380_381del, NM_020662.3:c.380_381del, NM_020662.2:c.380_381del, XM_005249242.3:c.380_381del, XM_005249242.2:c.380_381del, XM_005249242.1:c.380_381del, NM_001286264.2:c.380_381del, NM_001286264.1:c.380_381del, NR_104423.2:n.415CA[1], NR_104423.1:n.443CA[1], NM_001286265.2:c.380_381del, NM_001286265.1:c.380_381del, NP_065713.1:p.Thr127fs, XP_005249299.1:p.Thr127fs, NP_001273193.1:p.Thr127fs, NP_001273194.1:p.Thr127fs

Select item 14911362198.

rs1491136219 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:24419532 (GRCh38)
6:24419761 (GRCh37)
Canonical SPDI:: NC_000006.12:24419532:T:TT
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000162/3 (ALFA)
T=0.00006/16 (TOPMED)
T=0.000071/10 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000006.12:g.24419533dup, NC_000006.11:g.24419761dup

Select item 14911047809.

rs1491104780 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:24412202 (GRCh38)
6:24412430 (GRCh37)
Canonical SPDI:: NC_000006.12:24412201:GG:
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.24412202_24412203del, NC_000006.11:g.24412430_24412431del

Select item 149102187710.

rs1491021877 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:24420500 (GRCh38)
6:24420729 (GRCh37)
Canonical SPDI:: NC_000006.12:24420500:A:AA
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000006.12:g.24420501dup, NC_000006.11:g.24420729dup

Select item 149101651511.

rs1491016515 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:24422041 (GRCh38)
6:24422269 (GRCh37)
Canonical SPDI:: NC_000006.12:24422040:CA:
Gene:: MRS2 (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_000006.12:g.24422041_24422042del, NC_000006.11:g.24422269_24422270del

Select item 149099299012.

rs1490992990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:24407645 (GRCh38)
6:24407873 (GRCh37)
Canonical SPDI:: NC_000006.12:24407644:G:A,NC_000006.12:24407644:G:T
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.24407645G>A, NC_000006.12:g.24407645G>T, NC_000006.11:g.24407873G>A, NC_000006.11:g.24407873G>T

Select item 149098546313.

rs1490985463 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTCT>- [Show Flanks]
Chromosome:: 6:24421112 (GRCh38)
6:24421340 (GRCh37)
Canonical SPDI:: NC_000006.12:24421110:TTCTCT:T
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.24421112_24421116del, NC_000006.11:g.24421340_24421344del

Select item 149090164614.

rs1490901646 [Homo sapiens]

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

Select item 149080612515.

rs1490806125 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:24425070 (GRCh38)
6:24425298 (GRCh37)
Canonical SPDI:: NC_000006.12:24425069:C:T
Gene:: GPLD1 (Varview), MRS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.00005/7 (GnomAD)
T=0.000121/32 (TOPMED)
HGVS:: NC_000006.12:g.24425070C>T, NC_000006.11:g.24425298C>T, NG_029888.2:g.69553G>A, NM_020662.4:c.*1376C>T, NM_020662.3:c.*1376C>T, NM_020662.2:c.*1376C>T, XM_005249242.3:c.*1376C>T, XM_005249242.2:c.*1376C>T, XM_005249242.1:c.*1376C>T, NM_001286264.2:c.*1376C>T, NM_001286264.1:c.*1376C>T, NR_104423.2:n.2762C>T, NR_104423.1:n.2790C>T, NM_001286266.2:c.*1376C>T, NM_001286266.1:c.*1376C>T

Select item 149051452616.

rs1490514526 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:24407710 (GRCh38)
6:24407938 (GRCh37)
Canonical SPDI:: NC_000006.12:24407709:A:G
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.24407710A>G, NC_000006.11:g.24407938A>G

Select item 149050348317.

rs1490503483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:24406710 (GRCh38)
6:24406938 (GRCh37)
Canonical SPDI:: NC_000006.12:24406709:G:A
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.24406710G>A, NC_000006.11:g.24406938G>A

Select item 149021818518.

rs1490218185 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:24420021 (GRCh38)
6:24420249 (GRCh37)
Canonical SPDI:: NC_000006.12:24420020:A:C
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.24420021A>C, NC_000006.11:g.24420249A>C

Select item 149016698619.

rs1490166986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:24420730 (GRCh38)
6:24420958 (GRCh37)
Canonical SPDI:: NC_000006.12:24420729:A:G
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.24420730A>G, NC_000006.11:g.24420958A>G

Select item 149014476320.

rs1490144763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:24421778 (GRCh38)
6:24422006 (GRCh37)
Canonical SPDI:: NC_000006.12:24421777:C:T
Gene:: MRS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.24421778C>T, NC_000006.11:g.24422006C>T

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