SNP Links for Gene (Select 344887) - SNP

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Items: 1 to 20 of 5464

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Select item 14915057431.

rs1491505743 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 3:185963807 (GRCh38)
3:185681597 (GRCh37)
Canonical SPDI:: NC_000003.12:185963807:AA:AAGAA
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAA=0./0 (ALFA)
AAG=0.00014/3 (GnomAD)
HGVS:: NC_000003.12:g.185963809_185963810insGAA, NC_000003.11:g.185681598_185681599insGAA

Select item 14915053912.

rs1491505391 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:185959797 (GRCh38)
3:185677586 (GRCh37)
Canonical SPDI:: NC_000003.12:185959796:CA:
Gene:: NMRAL2P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.185959797_185959798del, NC_000003.11:g.185677586_185677587del

Select item 14914300403.

rs1491430040 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:185977074 (GRCh38)
3:185694863 (GRCh37)
Canonical SPDI:: NC_000003.12:185977071:ATAT:AT
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAT=0./0 (ALFA)
HGVS:: NC_000003.12:g.185977072AT[1], NC_000003.11:g.185694861AT[1]

Select item 14912675574.

rs1491267557 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA [Show Flanks]
Chromosome:: 3:185974205 (GRCh38)
3:185691995 (GRCh37)
Canonical SPDI:: NC_000003.12:185974205::GA
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GA=0./0 (ALFA)
GA=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.185974205_185974206insGA, NC_000003.11:g.185691994_185691995insGA

Select item 14912565785.

rs1491256578 has merged into rs57478065 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:185963817 (GRCh38)
3:185681606 (GRCh37)
Canonical SPDI:: NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:185963806:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.253/1267 (1000Genomes)
HGVS:: NC_000003.12:g.185963817_185963826del, NC_000003.12:g.185963824_185963826del, NC_000003.12:g.185963825_185963826del, NC_000003.12:g.185963826del, NC_000003.12:g.185963826dup, NC_000003.12:g.185963825_185963826dup, NC_000003.12:g.185963824_185963826dup, NC_000003.12:g.185963823_185963826dup, NC_000003.12:g.185963822_185963826dup, NC_000003.12:g.185963821_185963826dup, NC_000003.11:g.185681606_185681615del, NC_000003.11:g.185681613_185681615del, NC_000003.11:g.185681614_185681615del, NC_000003.11:g.185681615del, NC_000003.11:g.185681615dup, NC_000003.11:g.185681614_185681615dup, NC_000003.11:g.185681613_185681615dup, NC_000003.11:g.185681612_185681615dup, NC_000003.11:g.185681611_185681615dup, NC_000003.11:g.185681610_185681615dup

Select item 14912420696.

rs1491242069 [Homo sapiens]

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

Select item 14912140227.

rs1491214022 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 3:185974356 (GRCh38)
3:185692146 (GRCh37)
Canonical SPDI:: NC_000003.12:185974356:CA:CACA
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
CA=0.00005/1 (GnomAD)
HGVS:: NC_000003.12:g.185974357_185974358dup, NC_000003.11:g.185692146_185692147dup

Select item 14911807898.

rs1491180789 has merged into rs58552850 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 3:185976915 (GRCh38)
3:185694704 (GRCh37)
Canonical SPDI:: NC_000003.12:185976903:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:185976903:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:185976903:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:185976903:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:185976903:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:185976903:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1211/69 (NorthernSweden)
-=0.1556/577 (TWINSUK)
-=0.1629/628 (ALSPAC)
-=0.25/10 (GENOME_DK)
-=0.3151/1578 (1000Genomes)
HGVS:: NC_000003.12:g.185976915_185976917del, NC_000003.12:g.185976916_185976917del, NC_000003.12:g.185976917del, NC_000003.12:g.185976917dup, NC_000003.12:g.185976916_185976917dup, NC_000003.12:g.185976915_185976917dup, NC_000003.11:g.185694704_185694706del, NC_000003.11:g.185694705_185694706del, NC_000003.11:g.185694706del, NC_000003.11:g.185694706dup, NC_000003.11:g.185694705_185694706dup, NC_000003.11:g.185694704_185694706dup

Select item 14911770469.

rs1491177046 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:185974205 (GRCh38)
3:185691994 (GRCh37)
Canonical SPDI:: NC_000003.12:185974204:GA:
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.185974205_185974206del, NC_000003.11:g.185691994_185691995del

Select item 149117373510.

rs1491173735 has merged into rs142065060 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 3:185974710 (GRCh38)
3:185692499 (GRCh37)
Canonical SPDI:: NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:185974697:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.0433/167 (ALSPAC)
-=0.4621/2314 (1000Genomes)
T=0.5/20 (GENOME_DK)
HGVS:: NC_000003.12:g.185974710_185974714del, NC_000003.12:g.185974711_185974714del, NC_000003.12:g.185974712_185974714del, NC_000003.12:g.185974713_185974714del, NC_000003.12:g.185974714del, NC_000003.12:g.185974714dup, NC_000003.12:g.185974713_185974714dup, NC_000003.12:g.185974712_185974714dup, NC_000003.11:g.185692499_185692503del, NC_000003.11:g.185692500_185692503del, NC_000003.11:g.185692501_185692503del, NC_000003.11:g.185692502_185692503del, NC_000003.11:g.185692503del, NC_000003.11:g.185692503dup, NC_000003.11:g.185692502_185692503dup, NC_000003.11:g.185692501_185692503dup

Select item 149114084411.

rs1491140844 [Homo sapiens]

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

Select item 149112807612.

rs1491128076 has merged into rs1553779389 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TATA,TATATATA [Show Flanks]
Chromosome:: 3:185968044 (GRCh38)
3:185685833 (GRCh37)
Canonical SPDI:: NC_000003.12:185968042:ATATATA:A,NC_000003.12:185968042:ATATATA:ATATA,NC_000003.12:185968042:ATATATA:ATATATATA
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
AT=0.00007/1 (TOMMO)
HGVS:: NC_000003.12:g.185968044_185968049del, NC_000003.12:g.185968044TA[2], NC_000003.12:g.185968044TA[4], NC_000003.11:g.185685833_185685838del, NC_000003.11:g.185685833TA[2], NC_000003.11:g.185685833TA[4]

Select item 149110404213.

rs1491104042 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:185977072 (GRCh38)
3:185694862 (GRCh37)
Canonical SPDI:: NC_000003.12:185977072:T:TT
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000003.12:g.185977073dup, NC_000003.11:g.185694862dup

Select item 149100171314.

rs1491001713 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 3:185959771 (GRCh38)
3:185677560 (GRCh37)
Canonical SPDI:: NC_000003.12:185959770:T:A,NC_000003.12:185959770:T:C
Gene:: NMRAL2P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.185959771T>A, NC_000003.12:g.185959771T>C, NC_000003.11:g.185677560T>A, NC_000003.11:g.185677560T>C

Select item 149097682815.

rs1490976828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:185960654 (GRCh38)
3:185678443 (GRCh37)
Canonical SPDI:: NC_000003.12:185960653:T:C
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.185960654T>C, NC_000003.11:g.185678443T>C

Select item 149060197316.

rs1490601973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:185959237 (GRCh38)
3:185677026 (GRCh37)
Canonical SPDI:: NC_000003.12:185959236:G:A
Gene:: NMRAL2P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.185959237G>A, NC_000003.11:g.185677026G>A

Select item 149019520317.

rs1490195203 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185973589 (GRCh38)
3:185691378 (GRCh37)
Canonical SPDI:: NC_000003.12:185973588:C:T
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.185973589C>T, NC_000003.11:g.185691378C>T

Select item 149012049118.

rs1490120491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:185968368 (GRCh38)
3:185686157 (GRCh37)
Canonical SPDI:: NC_000003.12:185968367:C:T
Gene:: NMRAL2P (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_000003.12:g.185968368C>T, NC_000003.11:g.185686157C>T

Select item 148985640619.

rs1489856406 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185959913 (GRCh38)
3:185677702 (GRCh37)
Canonical SPDI:: NC_000003.12:185959912:A:G
Gene:: NMRAL2P (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.185959913A>G, NC_000003.11:g.185677702A>G

Select item 148983065520.

rs1489830655 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:185961017 (GRCh38)
3:185678806 (GRCh37)
Canonical SPDI:: NC_000003.12:185961016:A:G
Gene:: NMRAL2P (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.185961017A>G, NC_000003.11:g.185678806A>G

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