SNP Links for Gene (Select 144321) - SNP

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Select item 14915280581.

rs1491528058 has merged into rs71078729 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:75398339 (GRCh38)
12:75792119 (GRCh37)
Canonical SPDI:: NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398328:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.4181/2094 (1000Genomes)
HGVS:: NC_000012.12:g.75398339_75398351del, NC_000012.12:g.75398341_75398351del, NC_000012.12:g.75398343_75398351del, NC_000012.12:g.75398344_75398351del, NC_000012.12:g.75398345_75398351del, NC_000012.12:g.75398346_75398351del, NC_000012.12:g.75398347_75398351del, NC_000012.12:g.75398348_75398351del, NC_000012.12:g.75398349_75398351del, NC_000012.12:g.75398350_75398351del, NC_000012.12:g.75398351del, NC_000012.12:g.75398351dup, NC_000012.12:g.75398350_75398351dup, NC_000012.12:g.75398349_75398351dup, NC_000012.12:g.75398348_75398351dup, NC_000012.12:g.75398347_75398351dup, NC_000012.12:g.75398346_75398351dup, NC_000012.12:g.75398345_75398351dup, NC_000012.12:g.75398344_75398351dup, NC_000012.12:g.75398343_75398351dup, NC_000012.12:g.75398342_75398351dup, NC_000012.12:g.75398341_75398351dup, NC_000012.12:g.75398340_75398351dup, NC_000012.12:g.75398337_75398351dup, NC_000012.12:g.75398335_75398351dup, NC_000012.11:g.75792119_75792131del, NC_000012.11:g.75792121_75792131del, NC_000012.11:g.75792123_75792131del, NC_000012.11:g.75792124_75792131del, NC_000012.11:g.75792125_75792131del, NC_000012.11:g.75792126_75792131del, NC_000012.11:g.75792127_75792131del, NC_000012.11:g.75792128_75792131del, NC_000012.11:g.75792129_75792131del, NC_000012.11:g.75792130_75792131del, NC_000012.11:g.75792131del, NC_000012.11:g.75792131dup, NC_000012.11:g.75792130_75792131dup, NC_000012.11:g.75792129_75792131dup, NC_000012.11:g.75792128_75792131dup, NC_000012.11:g.75792127_75792131dup, NC_000012.11:g.75792126_75792131dup, NC_000012.11:g.75792125_75792131dup, NC_000012.11:g.75792124_75792131dup, NC_000012.11:g.75792123_75792131dup, NC_000012.11:g.75792122_75792131dup, NC_000012.11:g.75792121_75792131dup, NC_000012.11:g.75792120_75792131dup, NC_000012.11:g.75792117_75792131dup, NC_000012.11:g.75792115_75792131dup

Select item 14915226082.

rs1491522608 has merged into rs34354324 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTCTTTTTTTTTTTTTTTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTATTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:75429952 (GRCh38)
12:75823732 (GRCh37)
Canonical SPDI:: NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:75429938:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.75429952_75429954del, NC_000012.12:g.75429953_75429954del, NC_000012.12:g.75429954del, NC_000012.12:g.75429954dup, NC_000012.12:g.75429953_75429954dup, NC_000012.12:g.75429952_75429954dup, NC_000012.12:g.75429939_75429954T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.75429951_75429954dup, NC_000012.12:g.75429950_75429954dup, NC_000012.12:g.75429949_75429954dup, NC_000012.12:g.75429948_75429954dup, NC_000012.12:g.75429947_75429954dup, NC_000012.12:g.75429939_75429954T[24]ATTTTTTTTTTTTTTTT[1], NC_000012.12:g.75429946_75429954dup, NC_000012.12:g.75429945_75429954dup, NC_000012.12:g.75429944_75429954dup, NC_000012.12:g.75429943_75429954dup, NC_000012.12:g.75429942_75429954dup, NC_000012.12:g.75429941_75429954dup, NC_000012.12:g.75429940_75429954dup, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTT, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTTT, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.75429954_75429955insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823732_75823734del, NC_000012.11:g.75823733_75823734del, NC_000012.11:g.75823734del, NC_000012.11:g.75823734dup, NC_000012.11:g.75823733_75823734dup, NC_000012.11:g.75823732_75823734dup, NC_000012.11:g.75823719_75823734T[19]CTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.75823731_75823734dup, NC_000012.11:g.75823730_75823734dup, NC_000012.11:g.75823729_75823734dup, NC_000012.11:g.75823728_75823734dup, NC_000012.11:g.75823727_75823734dup, NC_000012.11:g.75823719_75823734T[24]ATTTTTTTTTTTTTTTT[1], NC_000012.11:g.75823726_75823734dup, NC_000012.11:g.75823725_75823734dup, NC_000012.11:g.75823724_75823734dup, NC_000012.11:g.75823723_75823734dup, NC_000012.11:g.75823722_75823734dup, NC_000012.11:g.75823721_75823734dup, NC_000012.11:g.75823720_75823734dup, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.75823734_75823735insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914150333.

rs1491415033 has merged into rs886297600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA [Show Flanks]
Chromosome:: 12:75409634 (GRCh38)
12:75803414 (GRCh37)
Canonical SPDI:: NC_000012.12:75409625:TATATATATATATA:TATATATA,NC_000012.12:75409625:TATATATATATATA:TATATATATA,NC_000012.12:75409625:TATATATATATATA:TATATATATATA,NC_000012.12:75409625:TATATATATATATA:TATATATATATATATA
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
-=0.000264/70 (TOPMED)
TA=0.000389/7 (TOMMO)
HGVS:: NC_000012.12:g.75409626TA[4], NC_000012.12:g.75409626TA[5], NC_000012.12:g.75409626TA[6], NC_000012.12:g.75409626TA[8], NC_000012.11:g.75803406TA[4], NC_000012.11:g.75803406TA[5], NC_000012.11:g.75803406TA[6], NC_000012.11:g.75803406TA[8]

Select item 14914045454.

rs1491404545 has merged into rs1036211394 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 12:75424613 (GRCh38)
12:75818393 (GRCh37)
Canonical SPDI:: NC_000012.12:75424612:TTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:75424612:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00004/0 (TOMMO)
HGVS:: NC_000012.12:g.75424623del, NC_000012.12:g.75424623dup, NC_000012.11:g.75818403del, NC_000012.11:g.75818403dup

Select item 14913444015.

rs1491344401 has merged into rs71078727 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:75394773 (GRCh38)
12:75788553 (GRCh37)
Canonical SPDI:: NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75394763:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.4427/2217 (1000Genomes)
HGVS:: NC_000012.12:g.75394773_75394784del, NC_000012.12:g.75394774_75394784del, NC_000012.12:g.75394775_75394784del, NC_000012.12:g.75394776_75394784del, NC_000012.12:g.75394777_75394784del, NC_000012.12:g.75394778_75394784del, NC_000012.12:g.75394779_75394784del, NC_000012.12:g.75394780_75394784del, NC_000012.12:g.75394781_75394784del, NC_000012.12:g.75394782_75394784del, NC_000012.12:g.75394783_75394784del, NC_000012.12:g.75394784del, NC_000012.12:g.75394784dup, NC_000012.12:g.75394783_75394784dup, NC_000012.12:g.75394782_75394784dup, NC_000012.12:g.75394781_75394784dup, NC_000012.12:g.75394780_75394784dup, NC_000012.12:g.75394779_75394784dup, NC_000012.12:g.75394778_75394784dup, NC_000012.12:g.75394777_75394784dup, NC_000012.12:g.75394776_75394784dup, NC_000012.12:g.75394775_75394784dup, NC_000012.12:g.75394774_75394784dup, NC_000012.12:g.75394773_75394784dup, NC_000012.12:g.75394772_75394784dup, NC_000012.12:g.75394771_75394784dup, NC_000012.12:g.75394770_75394784dup, NC_000012.11:g.75788553_75788564del, NC_000012.11:g.75788554_75788564del, NC_000012.11:g.75788555_75788564del, NC_000012.11:g.75788556_75788564del, NC_000012.11:g.75788557_75788564del, NC_000012.11:g.75788558_75788564del, NC_000012.11:g.75788559_75788564del, NC_000012.11:g.75788560_75788564del, NC_000012.11:g.75788561_75788564del, NC_000012.11:g.75788562_75788564del, NC_000012.11:g.75788563_75788564del, NC_000012.11:g.75788564del, NC_000012.11:g.75788564dup, NC_000012.11:g.75788563_75788564dup, NC_000012.11:g.75788562_75788564dup, NC_000012.11:g.75788561_75788564dup, NC_000012.11:g.75788560_75788564dup, NC_000012.11:g.75788559_75788564dup, NC_000012.11:g.75788558_75788564dup, NC_000012.11:g.75788557_75788564dup, NC_000012.11:g.75788556_75788564dup, NC_000012.11:g.75788555_75788564dup, NC_000012.11:g.75788554_75788564dup, NC_000012.11:g.75788553_75788564dup, NC_000012.11:g.75788552_75788564dup, NC_000012.11:g.75788551_75788564dup, NC_000012.11:g.75788550_75788564dup

Select item 14912813116.

rs1491281311 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 12:75429939 (GRCh38)
12:75823720 (GRCh37)
Canonical SPDI:: NC_000012.12:75429939:TT:TTCTT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0.00017/2 (ALFA)
TTC=0.00008/2 (GnomAD)
HGVS:: NC_000012.12:g.75429941_75429942insCTT, NC_000012.11:g.75823721_75823722insCTT

Select item 14912214727.

rs1491221472 has merged into rs4019357 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTTATTT>-,CTTTATTTCTTTATTT [Show Flanks]
Chromosome:: 12:75421997 (GRCh38)
12:75815777 (GRCh37)
Canonical SPDI:: NC_000012.12:75421981:TTTATTTCTTTATTTCTTTATTT:TTTATTTCTTTATTT,NC_000012.12:75421981:TTTATTTCTTTATTTCTTTATTT:TTTATTTCTTTATTTCTTTATTTCTTTATTT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTATTTCTTTATTT=0.2291/1626 (ALFA)
-=0.4151/1704 (1000Genomes)
HGVS:: NC_000012.12:g.75421989CTTTATTT[1], NC_000012.12:g.75421989CTTTATTT[3], NC_000012.11:g.75815769CTTTATTT[1], NC_000012.11:g.75815769CTTTATTT[3]

Select item 14912158738.

rs1491215873 has merged into rs71078728 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:75398042 (GRCh38)
12:75791822 (GRCh37)
Canonical SPDI:: NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:75398029:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.24081/1206 (1000Genomes)
A=0.25/2 (KOREAN)
HGVS:: NC_000012.12:g.75398042_75398048del, NC_000012.12:g.75398044_75398048del, NC_000012.12:g.75398045_75398048del, NC_000012.12:g.75398046_75398048del, NC_000012.12:g.75398047_75398048del, NC_000012.12:g.75398048del, NC_000012.12:g.75398048dup, NC_000012.12:g.75398047_75398048dup, NC_000012.12:g.75398046_75398048dup, NC_000012.12:g.75398042_75398048dup, NC_000012.11:g.75791822_75791828del, NC_000012.11:g.75791824_75791828del, NC_000012.11:g.75791825_75791828del, NC_000012.11:g.75791826_75791828del, NC_000012.11:g.75791827_75791828del, NC_000012.11:g.75791828del, NC_000012.11:g.75791828dup, NC_000012.11:g.75791827_75791828dup, NC_000012.11:g.75791826_75791828dup, NC_000012.11:g.75791822_75791828dup

Select item 14912150239.

rs1491215023 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:75398029 (GRCh38)
12:75791809 (GRCh37)
Canonical SPDI:: NC_000012.12:75398028:TA:
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.75398029_75398030del, NC_000012.11:g.75791809_75791810del

Select item 149112002010.

rs1491120020 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 12:75428529 (GRCh38)
12:75822310 (GRCh37)
Canonical SPDI:: NC_000012.12:75428529::A
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000054/6 (GnomAD)
HGVS:: NC_000012.12:g.75428529_75428530insA, NC_000012.11:g.75822309_75822310insA

Select item 149111670211.

rs1491116702 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:75398328 (GRCh38)
12:75792108 (GRCh37)
Canonical SPDI:: NC_000012.12:75398327:CA:
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000012.12:g.75398328_75398329del, NC_000012.11:g.75792108_75792109del

Select item 149108782112.

rs1491087821 has merged into rs10689115 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 12:75400929 (GRCh38)
12:75794709 (GRCh37)
Canonical SPDI:: NC_000012.12:75400917:TATATATATATAT:TATATATATAT,NC_000012.12:75400917:TATATATATATAT:TATATATATATATAT,NC_000012.12:75400917:TATATATATATAT:TATATATATATATATAT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0.0074/51 (ALFA)
-=0.4439/95 (Vietnamese)
-=0.4685/2346 (1000Genomes)
-=0.475/19 (GENOME_DK)
-=0.4751/2081 (Estonian)
HGVS:: NC_000012.12:g.75400919AT[5], NC_000012.12:g.75400919AT[7], NC_000012.12:g.75400919AT[8], NC_000012.11:g.75794699AT[5], NC_000012.11:g.75794699AT[7], NC_000012.11:g.75794699AT[8]

Select item 149106063713.

rs1491060637 has merged into rs151064090 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 12:75428536 (GRCh38)
12:75822316 (GRCh37)
Canonical SPDI:: NC_000012.12:75428528:TTTTTTTTT:TTTTTTT,NC_000012.12:75428528:TTTTTTTTT:TTTTTTTT,NC_000012.12:75428528:TTTTTTTTT:TTTTTTTTTT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.00018/3 (TOMMO)
-=0.00273/5 (Korea1K)
HGVS:: NC_000012.12:g.75428536_75428537del, NC_000012.12:g.75428537del, NC_000012.12:g.75428537dup, NC_000012.11:g.75822316_75822317del, NC_000012.11:g.75822317del, NC_000012.11:g.75822317dup

Select item 149105672314.

rs1491056723 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 12:75429938 (GRCh38)
12:75823718 (GRCh37)
Canonical SPDI:: NC_000012.12:75429936:TCT:T
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
-=0.00015/9 (GnomAD)
HGVS:: NC_000012.12:g.75429938_75429939del, NC_000012.11:g.75823718_75823719del

Select item 149104311515.

rs1491043115 has merged into rs772979370 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGAGAGAGAGA>-,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGAGA [Show Flanks]
Chromosome:: 12:75406775 (GRCh38)
12:75800555 (GRCh37)
Canonical SPDI:: NC_000012.12:75406773:AGAGAGAGAGAGAGA:A,NC_000012.12:75406773:AGAGAGAGAGAGAGA:AGAGAGA,NC_000012.12:75406773:AGAGAGAGAGAGAGA:AGAGAGAGA,NC_000012.12:75406773:AGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000012.12:75406773:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000012.12:75406773:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.75406775_75406788del, NC_000012.12:g.75406775GA[3], NC_000012.12:g.75406775GA[4], NC_000012.12:g.75406775GA[5], NC_000012.12:g.75406775GA[6], NC_000012.12:g.75406775GA[8], NC_000012.11:g.75800555_75800568del, NC_000012.11:g.75800555GA[3], NC_000012.11:g.75800555GA[4], NC_000012.11:g.75800555GA[5], NC_000012.11:g.75800555GA[6], NC_000012.11:g.75800555GA[8]

Select item 149102972716.

rs1491029727 has merged into rs5799223 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:75391884 (GRCh38)
12:75785664 (GRCh37)
Canonical SPDI:: NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:75391877:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: CAPS2 (Varview), GLIPR1L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.4473/2240 (1000Genomes)
HGVS:: NC_000012.12:g.75391884_75391889del, NC_000012.12:g.75391886_75391889del, NC_000012.12:g.75391888_75391889del, NC_000012.12:g.75391889del, NC_000012.12:g.75391889dup, NC_000012.12:g.75391888_75391889dup, NC_000012.12:g.75391887_75391889dup, NC_000012.12:g.75391879_75391889dup, NC_000012.11:g.75785664_75785669del, NC_000012.11:g.75785666_75785669del, NC_000012.11:g.75785668_75785669del, NC_000012.11:g.75785669del, NC_000012.11:g.75785669dup, NC_000012.11:g.75785668_75785669dup, NC_000012.11:g.75785667_75785669dup, NC_000012.11:g.75785659_75785669dup

Select item 149097601817.

rs1490976018 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>- [Show Flanks]
Chromosome:: 12:75399721 (GRCh38)
12:75793501 (GRCh37)
Canonical SPDI:: NC_000012.12:75399718:TTTTT:TT
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000169/2 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000012.12:g.75399721_75399723del, NC_000012.11:g.75793501_75793503del

Select item 149096340918.

rs1490963409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:75415228 (GRCh38)
12:75809008 (GRCh37)
Canonical SPDI:: NC_000012.12:75415227:T:C
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.75415228T>C, NC_000012.11:g.75809008T>C

Select item 149095451419.

rs1490954514 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:75412763 (GRCh38)
12:75806543 (GRCh37)
Canonical SPDI:: NC_000012.12:75412762:C:A
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000064/17 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
A=0.001309/22 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.75412763C>A, NC_000012.11:g.75806543C>A, XM_047428339.1:c.709C>A, XM_047428342.1:c.709C>A, XM_047428341.1:c.709C>A, XM_047428338.1:c.709C>A, XP_047284295.1:p.Gln237Lys, XP_047284298.1:p.Gln237Lys, XP_047284297.1:p.Gln237Lys, XP_047284294.1:p.Gln237Lys

Select item 149093593420.

rs1490935934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:75430464 (GRCh38)
12:75824244 (GRCh37)
Canonical SPDI:: NC_000012.12:75430463:A:G
Gene:: GLIPR1L2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.75430464A>G, NC_000012.11:g.75824244A>G

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