SNP Links for Gene (Select 643226) - SNP

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Select item 14915711121.

rs1491571112 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 5:145879369 (GRCh38)
5:145258933 (GRCh37)
Canonical SPDI:: NC_000005.10:145879369::A,NC_000005.10:145879369::AA,NC_000005.10:145879369::AAA
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.00014/2 (TOMMO)
AA=0.00099/60 (GnomAD)
HGVS:: NC_000005.10:g.145879369_145879370insA, NC_000005.10:g.145879369_145879370insAA, NC_000005.10:g.145879369_145879370insAAA, NC_000005.9:g.145258932_145258933insA, NC_000005.9:g.145258932_145258933insAA, NC_000005.9:g.145258932_145258933insAAA

Select item 14915600082.

rs1491560008 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAA [Show Flanks]
Chromosome:: 5:145889237 (GRCh38)
5:145268801 (GRCh37)
Canonical SPDI:: NC_000005.10:145889237:AAGAA:AAGAAGAA
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAGAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.145889240_145889242dup, NC_000005.9:g.145268803_145268805dup

Select item 14915356853.

rs1491535685 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAGAA [Show Flanks]
Chromosome:: 5:145889225 (GRCh38)
5:145268789 (GRCh37)
Canonical SPDI:: NC_000005.10:145889225:AAGAAAGAA:AAGAAAGAAGAAAGAA
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AAGAAAGAAGAAAGAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.145889228_145889234dup, NC_000005.9:g.145268791_145268797dup

Select item 14915280374.

rs1491528037 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:145914675 (GRCh38)
5:145294238 (GRCh37)
Canonical SPDI:: NC_000005.10:145914674:CA:
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.145914675_145914676del, NC_000005.9:g.145294238_145294239del

Select item 14915235195.

rs1491523519 has merged into rs398038865 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:145869569 (GRCh38)
5:145249132 (GRCh37)
Canonical SPDI:: NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:145869559:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.1655/829 (1000Genomes)
HGVS:: NC_000005.10:g.145869569_145869575del, NC_000005.10:g.145869571_145869575del, NC_000005.10:g.145869572_145869575del, NC_000005.10:g.145869573_145869575del, NC_000005.10:g.145869574_145869575del, NC_000005.10:g.145869575del, NC_000005.10:g.145869575dup, NC_000005.10:g.145869574_145869575dup, NC_000005.10:g.145869573_145869575dup, NC_000005.10:g.145869572_145869575dup, NC_000005.10:g.145869571_145869575dup, NC_000005.9:g.145249132_145249138del, NC_000005.9:g.145249134_145249138del, NC_000005.9:g.145249135_145249138del, NC_000005.9:g.145249136_145249138del, NC_000005.9:g.145249137_145249138del, NC_000005.9:g.145249138del, NC_000005.9:g.145249138dup, NC_000005.9:g.145249137_145249138dup, NC_000005.9:g.145249136_145249138dup, NC_000005.9:g.145249135_145249138dup, NC_000005.9:g.145249134_145249138dup, NG_034161.2:g.8449_8455del, NG_034161.2:g.8451_8455del, NG_034161.2:g.8452_8455del, NG_034161.2:g.8453_8455del, NG_034161.2:g.8454_8455del, NG_034161.2:g.8455del, NG_034161.2:g.8455dup, NG_034161.2:g.8454_8455dup, NG_034161.2:g.8453_8455dup, NG_034161.2:g.8452_8455dup, NG_034161.2:g.8451_8455dup

Select item 14915041626.

rs1491504162 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG [Show Flanks]
Chromosome:: 5:145919754 (GRCh38)
5:145299317 (GRCh37)
Canonical SPDI:: NC_000005.10:145919750:GGGGG:GGG,NC_000005.10:145919750:GGGGG:GGGG,NC_000005.10:145919750:GGGGG:GGGGGG
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.145919754_145919755del, NC_000005.10:g.145919755del, NC_000005.10:g.145919755dup, NC_000005.9:g.145299317_145299318del, NC_000005.9:g.145299318del, NC_000005.9:g.145299318dup

Select item 14914434337.

rs1491443433 has merged into rs1191778002 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 5:145889238 (GRCh38)
5:145268801 (GRCh37)
Canonical SPDI:: NC_000005.10:145889236:AAA:A,NC_000005.10:145889236:AAA:AA,NC_000005.10:145889236:AAA:AAAA
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.145889238_145889239del, NC_000005.10:g.145889239del, NC_000005.10:g.145889239dup, NC_000005.9:g.145268801_145268802del, NC_000005.9:g.145268802del, NC_000005.9:g.145268802dup

Select item 14914036988.

rs1491403698 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:145919750 (GRCh38)
5:145299313 (GRCh37)
Canonical SPDI:: NC_000005.10:145919749:AG:
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.145919750_145919751del, NC_000005.9:g.145299313_145299314del

Select item 14913679019.

rs1491367901 has merged into rs59158357 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:145885111 (GRCh38)
5:145264674 (GRCh37)
Canonical SPDI:: NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:145885097:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.000975/258 (TOPMED)
TG=0.424521/2126 (1000Genomes)
HGVS:: NC_000005.10:g.145885099GT[6], NC_000005.10:g.145885099GT[7], NC_000005.10:g.145885099GT[9], NC_000005.10:g.145885099GT[10], NC_000005.10:g.145885099GT[11], NC_000005.10:g.145885099GT[13], NC_000005.10:g.145885099GT[14], NC_000005.10:g.145885099GT[15], NC_000005.10:g.145885099GT[16], NC_000005.10:g.145885099GT[17], NC_000005.10:g.145885099GT[18], NC_000005.10:g.145885099GT[19], NC_000005.10:g.145885099GT[20], NC_000005.10:g.145885099GT[21], NC_000005.10:g.145885099GT[22], NC_000005.9:g.145264662GT[6], NC_000005.9:g.145264662GT[7], NC_000005.9:g.145264662GT[9], NC_000005.9:g.145264662GT[10], NC_000005.9:g.145264662GT[11], NC_000005.9:g.145264662GT[13], NC_000005.9:g.145264662GT[14], NC_000005.9:g.145264662GT[15], NC_000005.9:g.145264662GT[16], NC_000005.9:g.145264662GT[17], NC_000005.9:g.145264662GT[18], NC_000005.9:g.145264662GT[19], NC_000005.9:g.145264662GT[20], NC_000005.9:g.145264662GT[21], NC_000005.9:g.145264662GT[22]

Select item 149135628110.

rs1491356281 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GTATAC,GTATATATAC [Show Flanks]
Chromosome:: 5:145876192 (GRCh38)
5:145255756 (GRCh37)
Canonical SPDI:: NC_000005.10:145876192::G,NC_000005.10:145876192::GTATAC,NC_000005.10:145876192::GTATATATAC
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTATATATAC=0./0 (ALFA)
G=0.000004/1 (TOPMED)
GTATAC=0.000354/5 (TOMMO)
HGVS:: NC_000005.10:g.145876192_145876193insG, NC_000005.10:g.145876192_145876193insGTATAC, NC_000005.10:g.145876192_145876193insGTATATATAC, NC_000005.9:g.145255755_145255756insG, NC_000005.9:g.145255755_145255756insGTATAC, NC_000005.9:g.145255755_145255756insGTATATATAC, NG_034161.2:g.1822_1823insC, NG_034161.2:g.1822_1823insGTATAC, NG_034161.2:g.1822_1823insGTATATATAC

Select item 149132888111.

rs1491328881 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:145929199 (GRCh38)
5:145308762 (GRCh37)
Canonical SPDI:: NC_000005.10:145929198:CT:
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
-=0.00063/51 (GnomAD)
HGVS:: NC_000005.10:g.145929199_145929200del, NC_000005.9:g.145308762_145308763del

Select item 149132737612.

rs1491327376 [Homo sapiens]

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

Select item 149130366813.

rs1491303668 [Homo sapiens]

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

Select item 149125305814.

rs1491253058 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:145876234 (GRCh38)
5:145255798 (GRCh37)
Canonical SPDI:: NC_000005.10:145876234::A
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.000134/16 (GnomAD)
HGVS:: NC_000005.10:g.145876234_145876235insA, NC_000005.9:g.145255797_145255798insA, NG_034161.2:g.1780_1781insT

Select item 149120699715.

rs1491206997 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>- [Show Flanks]
Chromosome:: 5:145876235 (GRCh38)
5:145255798 (GRCh37)
Canonical SPDI:: NC_000005.10:145876233:CCC:C
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.000048/6 (GnomAD)
-=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.145876235_145876236del, NC_000005.9:g.145255798_145255799del, NG_034161.2:g.1780_1781del

Select item 149118786716.

rs1491187867 has merged into rs34955541 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:145914688 (GRCh38)
5:145294251 (GRCh37)
Canonical SPDI:: NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:145914675:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000005.10:g.145914688_145914702del, NC_000005.10:g.145914689_145914702del, NC_000005.10:g.145914690_145914702del, NC_000005.10:g.145914691_145914702del, NC_000005.10:g.145914692_145914702del, NC_000005.10:g.145914693_145914702del, NC_000005.10:g.145914694_145914702del, NC_000005.10:g.145914695_145914702del, NC_000005.10:g.145914696_145914702del, NC_000005.10:g.145914697_145914702del, NC_000005.10:g.145914698_145914702del, NC_000005.10:g.145914699_145914702del, NC_000005.10:g.145914700_145914702del, NC_000005.10:g.145914701_145914702del, NC_000005.10:g.145914702del, NC_000005.10:g.145914702dup, NC_000005.10:g.145914701_145914702dup, NC_000005.10:g.145914700_145914702dup, NC_000005.10:g.145914699_145914702dup, NC_000005.10:g.145914698_145914702dup, NC_000005.9:g.145294251_145294265del, NC_000005.9:g.145294252_145294265del, NC_000005.9:g.145294253_145294265del, NC_000005.9:g.145294254_145294265del, NC_000005.9:g.145294255_145294265del, NC_000005.9:g.145294256_145294265del, NC_000005.9:g.145294257_145294265del, NC_000005.9:g.145294258_145294265del, NC_000005.9:g.145294259_145294265del, NC_000005.9:g.145294260_145294265del, NC_000005.9:g.145294261_145294265del, NC_000005.9:g.145294262_145294265del, NC_000005.9:g.145294263_145294265del, NC_000005.9:g.145294264_145294265del, NC_000005.9:g.145294265del, NC_000005.9:g.145294265dup, NC_000005.9:g.145294264_145294265dup, NC_000005.9:g.145294263_145294265dup, NC_000005.9:g.145294262_145294265dup, NC_000005.9:g.145294261_145294265dup

Select item 149118344617.

rs1491183446 has merged into rs1265621206 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 5:145889226 (GRCh38)
5:145268789 (GRCh37)
Canonical SPDI:: NC_000005.10:145889224:AAA:A,NC_000005.10:145889224:AAA:AA,NC_000005.10:145889224:AAA:AAAAA
Gene:: GRXCR2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0./0 (GnomAD)
HGVS:: NC_000005.10:g.145889226_145889227del, NC_000005.10:g.145889227del, NC_000005.10:g.145889226_145889227dup, NC_000005.9:g.145268789_145268790del, NC_000005.9:g.145268790del, NC_000005.9:g.145268789_145268790dup

Select item 149118235218.

rs1491182352 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GATATA [Show Flanks]
Chromosome:: 5:145929202 (GRCh38)
5:145308766 (GRCh37)
Canonical SPDI:: NC_000005.10:145929202:ATATA:ATATAGATATA
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAGATATA=0.00008/1 (ALFA)
ATATAG=0.00001/1 (GnomAD)
HGVS:: NC_000005.10:g.145929203_145929207AT[2]AGATATA[1], NC_000005.9:g.145308766_145308770AT[2]AGATATA[1]

Select item 149115243719.

rs1491152437 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:145889200 (GRCh38)
5:145268763 (GRCh37)
Canonical SPDI:: NC_000005.10:145889198:AGA:A
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.145889200_145889201del, NC_000005.9:g.145268763_145268764del

Select item 149110948320.

rs1491109483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 5:145929200 (GRCh38)
5:145308764 (GRCh37)
Canonical SPDI:: NC_000005.10:145929200:A:ACA
Gene:: GRXCR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.145929201_145929202insCA, NC_000005.9:g.145308764_145308765insCA

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