SNP Links for Gene (Select 112609) - SNP

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Select item 14915780261.

rs1491578026 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:84049982 (GRCh38)
6:84759701 (GRCh37)
Canonical SPDI:: NC_000006.12:84049981:AT:
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000006.12:g.84049982_84049983del, NC_000006.11:g.84759701_84759702del, NG_051944.1:g.21324_21325del

Select item 14914975282.

rs1491497528 has merged into rs748205173 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 6:84134917 (GRCh38)
6:84844636 (GRCh37)
Canonical SPDI:: NC_000006.12:84134913:ATATATA:ATA,NC_000006.12:84134913:ATATATA:ATATA,NC_000006.12:84134913:ATATATA:ATATATATA,NC_000006.12:84134913:ATATATA:ATATATATATA
Gene:: CEP162 (Varview), MRAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
ATAT=0.000023/6 (TOPMED)
-=0.000224/1 (Estonian)
-=0.003344/2 (NorthernSweden)
-=0.047743/184 (ALSPAC)
HGVS:: NC_000006.12:g.84134915TA[1], NC_000006.12:g.84134915TA[2], NC_000006.12:g.84134915TA[4], NC_000006.12:g.84134915TA[5], NC_000006.11:g.84844634TA[1], NC_000006.11:g.84844634TA[2], NC_000006.11:g.84844634TA[4], NC_000006.11:g.84844634TA[5]

Select item 14913700593.

rs1491370059 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:84134913 (GRCh38)
6:84844632 (GRCh37)
Canonical SPDI:: NC_000006.12:84134912:CA:
Gene:: CEP162 (Varview), MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00001/1 (GnomAD)
HGVS:: NC_000006.12:g.84134913_84134914del, NC_000006.11:g.84844632_84844633del

Select item 14913270944.

rs1491327094 has merged into rs34220070 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTCATCCACCCATATCATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:84068795 (GRCh38)
6:84778514 (GRCh37)
Canonical SPDI:: NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCATCCACCCATATCATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84068784:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000006.12:g.84068795_84068808del, NC_000006.12:g.84068796_84068808del, NC_000006.12:g.84068797_84068808del, NC_000006.12:g.84068798_84068808del, NC_000006.12:g.84068799_84068808del, NC_000006.12:g.84068800_84068808del, NC_000006.12:g.84068801_84068808del, NC_000006.12:g.84068802_84068808del, NC_000006.12:g.84068803_84068808del, NC_000006.12:g.84068804_84068808del, NC_000006.12:g.84068805_84068808del, NC_000006.12:g.84068806_84068808del, NC_000006.12:g.84068807_84068808del, NC_000006.12:g.84068808del, NC_000006.12:g.84068808dup, NC_000006.12:g.84068785_84068808T[25]CATCCACCCATATCATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.12:g.84068807_84068808dup, NC_000006.12:g.84068806_84068808dup, NC_000006.12:g.84068805_84068808dup, NC_000006.12:g.84068804_84068808dup, NC_000006.12:g.84068803_84068808dup, NC_000006.12:g.84068802_84068808dup, NC_000006.12:g.84068801_84068808dup, NC_000006.12:g.84068800_84068808dup, NC_000006.11:g.84778514_84778527del, NC_000006.11:g.84778515_84778527del, NC_000006.11:g.84778516_84778527del, NC_000006.11:g.84778517_84778527del, NC_000006.11:g.84778518_84778527del, NC_000006.11:g.84778519_84778527del, NC_000006.11:g.84778520_84778527del, NC_000006.11:g.84778521_84778527del, NC_000006.11:g.84778522_84778527del, NC_000006.11:g.84778523_84778527del, NC_000006.11:g.84778524_84778527del, NC_000006.11:g.84778525_84778527del, NC_000006.11:g.84778526_84778527del, NC_000006.11:g.84778527del, NC_000006.11:g.84778527dup, NC_000006.11:g.84778504_84778527T[25]CATCCACCCATATCATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000006.11:g.84778526_84778527dup, NC_000006.11:g.84778525_84778527dup, NC_000006.11:g.84778524_84778527dup, NC_000006.11:g.84778523_84778527dup, NC_000006.11:g.84778522_84778527dup, NC_000006.11:g.84778521_84778527dup, NC_000006.11:g.84778520_84778527dup, NC_000006.11:g.84778519_84778527dup, NG_051944.1:g.40137_40150del, NG_051944.1:g.40138_40150del, NG_051944.1:g.40139_40150del, NG_051944.1:g.40140_40150del, NG_051944.1:g.40141_40150del, NG_051944.1:g.40142_40150del, NG_051944.1:g.40143_40150del, NG_051944.1:g.40144_40150del, NG_051944.1:g.40145_40150del, NG_051944.1:g.40146_40150del, NG_051944.1:g.40147_40150del, NG_051944.1:g.40148_40150del, NG_051944.1:g.40149_40150del, NG_051944.1:g.40150del, NG_051944.1:g.40150dup, NG_051944.1:g.40127_40150T[25]CATCCACCCATATCATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_051944.1:g.40149_40150dup, NG_051944.1:g.40148_40150dup, NG_051944.1:g.40147_40150dup, NG_051944.1:g.40146_40150dup, NG_051944.1:g.40145_40150dup, NG_051944.1:g.40144_40150dup, NG_051944.1:g.40143_40150dup, NG_051944.1:g.40142_40150dup

Select item 14913000535.

rs1491300053 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 6:84084896 (GRCh38)
6:84794615 (GRCh37)
Canonical SPDI:: NC_000006.12:84084893:TTTT:TT,NC_000006.12:84084893:TTTT:TTT
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000006.12:g.84084896_84084897del, NC_000006.12:g.84084897del, NC_000006.11:g.84794615_84794616del, NC_000006.11:g.84794616del, NG_051944.1:g.56238_56239del, NG_051944.1:g.56239del

Select item 14912941866.

rs1491294186 has merged into rs71549596 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:84073899 (GRCh38)
6:84783618 (GRCh37)
Canonical SPDI:: NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:84073888:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.26378/1321 (1000Genomes)
HGVS:: NC_000006.12:g.84073899_84073903del, NC_000006.12:g.84073900_84073903del, NC_000006.12:g.84073901_84073903del, NC_000006.12:g.84073902_84073903del, NC_000006.12:g.84073903del, NC_000006.12:g.84073903dup, NC_000006.12:g.84073902_84073903dup, NC_000006.12:g.84073901_84073903dup, NC_000006.12:g.84073900_84073903dup, NC_000006.12:g.84073896_84073903dup, NC_000006.11:g.84783618_84783622del, NC_000006.11:g.84783619_84783622del, NC_000006.11:g.84783620_84783622del, NC_000006.11:g.84783621_84783622del, NC_000006.11:g.84783622del, NC_000006.11:g.84783622dup, NC_000006.11:g.84783621_84783622dup, NC_000006.11:g.84783620_84783622dup, NC_000006.11:g.84783619_84783622dup, NC_000006.11:g.84783615_84783622dup, NG_051944.1:g.45241_45245del, NG_051944.1:g.45242_45245del, NG_051944.1:g.45243_45245del, NG_051944.1:g.45244_45245del, NG_051944.1:g.45245del, NG_051944.1:g.45245dup, NG_051944.1:g.45244_45245dup, NG_051944.1:g.45243_45245dup, NG_051944.1:g.45242_45245dup, NG_051944.1:g.45238_45245dup

Select item 14912746887.

rs1491274688 [Homo sapiens]

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

Select item 14912029158.

rs1491202915 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:84093280 (GRCh38)
6:84802999 (GRCh37)
Canonical SPDI:: NC_000006.12:84093278:AAA:A
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.84093280_84093281del, NC_000006.11:g.84802999_84803000del

Select item 14910924669.

rs1491092466 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 6:84084894 (GRCh38)
6:84794614 (GRCh37)
Canonical SPDI:: NC_000006.12:84084894:TT:TTATT
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.84084896_84084897insATT, NC_000006.11:g.84794615_84794616insATT, NG_051944.1:g.56238_56239insATT

Select item 149108272010.

rs1491082720 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 6:84122376 (GRCh38)
6:84832095 (GRCh37)
Canonical SPDI:: NC_000006.12:84122375:AG:
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000006.12:g.84122376_84122377del, NC_000006.11:g.84832095_84832096del

Select item 149107980011.

rs1491079800 has merged into rs200131904 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:84099194 (GRCh38)
6:84808913 (GRCh37)
Canonical SPDI:: NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:84099181:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.25/2 (KOREAN)
HGVS:: NC_000006.12:g.84099194_84099197del, NC_000006.12:g.84099195_84099197del, NC_000006.12:g.84099196_84099197del, NC_000006.12:g.84099197del, NC_000006.12:g.84099197dup, NC_000006.12:g.84099196_84099197dup, NC_000006.12:g.84099195_84099197dup, NC_000006.12:g.84099194_84099197dup, NC_000006.12:g.84099193_84099197dup, NC_000006.12:g.84099192_84099197dup, NC_000006.12:g.84099191_84099197dup, NC_000006.12:g.84099190_84099197dup, NC_000006.12:g.84099189_84099197dup, NC_000006.12:g.84099187_84099197dup, NC_000006.11:g.84808913_84808916del, NC_000006.11:g.84808914_84808916del, NC_000006.11:g.84808915_84808916del, NC_000006.11:g.84808916del, NC_000006.11:g.84808916dup, NC_000006.11:g.84808915_84808916dup, NC_000006.11:g.84808914_84808916dup, NC_000006.11:g.84808913_84808916dup, NC_000006.11:g.84808912_84808916dup, NC_000006.11:g.84808911_84808916dup, NC_000006.11:g.84808910_84808916dup, NC_000006.11:g.84808909_84808916dup, NC_000006.11:g.84808908_84808916dup, NC_000006.11:g.84808906_84808916dup

Select item 149106596112.

rs1491065961 has merged into rs35368724 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 6:84093276 (GRCh38)
6:84802995 (GRCh37)
Canonical SPDI:: NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGA,NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGAGA,NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGAGAGAGA,NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGAGAGAGAGAGA,NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000006.12:84093268:AGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGA=0./0 (ALFA)
AGAG=0.12445/228 (Korea1K)
AGAG=0.15015/2517 (TOMMO)
AGAG=0.18981/41 (Vietnamese)
AGAG=0.225/9 (GENOME_DK)
AGAG=0.35224/1764 (1000Genomes)
HGVS:: NC_000006.12:g.84093270GA[3], NC_000006.12:g.84093270GA[4], NC_000006.12:g.84093270GA[6], NC_000006.12:g.84093270GA[7], NC_000006.12:g.84093270GA[8], NC_000006.12:g.84093270GA[9], NC_000006.12:g.84093270GA[10], NC_000006.11:g.84802989GA[3], NC_000006.11:g.84802989GA[4], NC_000006.11:g.84802989GA[6], NC_000006.11:g.84802989GA[7], NC_000006.11:g.84802989GA[8], NC_000006.11:g.84802989GA[9], NC_000006.11:g.84802989GA[10]

Select item 149102960113.

rs1491029601 [Homo sapiens]

Variant type:: INS
Alleles:: ->AG [Show Flanks]
Chromosome:: 6:84122376 (GRCh38)
6:84832096 (GRCh37)
Canonical SPDI:: NC_000006.12:84122376::AG
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
AG=0.000015/2 (GnomAD)
HGVS:: NC_000006.12:g.84122376_84122377insAG, NC_000006.11:g.84832095_84832096insAG

Select item 149100328314.

rs1491003283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:84114385 (GRCh38)
6:84824104 (GRCh37)
Canonical SPDI:: NC_000006.12:84114384:T:G
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.84114385T>G, NC_000006.11:g.84824104T>G

Select item 149097824615.

rs1490978246 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:84113340 (GRCh38)
6:84823059 (GRCh37)
Canonical SPDI:: NC_000006.12:84113339:G:A,NC_000006.12:84113339:G:T
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.84113340G>A, NC_000006.12:g.84113340G>T, NC_000006.11:g.84823059G>A, NC_000006.11:g.84823059G>T

Select item 149095728716.

rs1490957287 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:84052378 (GRCh38)
6:84762097 (GRCh37)
Canonical SPDI:: NC_000006.12:84052377:T:G
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.84052378T>G, NC_000006.11:g.84762097T>G, NG_051944.1:g.23720T>G, NG_053864.1:g.705T>G

Select item 149093861617.

rs1490938616 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:84086354 (GRCh38)
6:84796073 (GRCh37)
Canonical SPDI:: NC_000006.12:84086353:G:A,NC_000006.12:84086353:G:C
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.84086354G>A, NC_000006.12:g.84086354G>C, NC_000006.11:g.84796073G>A, NC_000006.11:g.84796073G>C, NG_051944.1:g.57696G>A, NG_051944.1:g.57696G>C

Select item 149092120418.

rs1490921204 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:84082676 (GRCh38)
6:84792395 (GRCh37)
Canonical SPDI:: NC_000006.12:84082675:T:G
Gene:: MRAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.84082676T>G, NC_000006.11:g.84792395T>G, NG_051944.1:g.54018T>G

Select item 149088860319.

rs1490888603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:84097994 (GRCh38)
6:84807713 (GRCh37)
Canonical SPDI:: NC_000006.12:84097993:T:C
Gene:: MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.84097994T>C, NC_000006.11:g.84807713T>C

Select item 149088366420.

rs1490883664 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:84130403 (GRCh38)
6:84840122 (GRCh37)
Canonical SPDI:: NC_000006.12:84130402:T:C
Gene:: CEP162 (Varview), MRAP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.84130403T>C, NC_000006.11:g.84840122T>C

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