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Select item 14915428691.

rs1491542869 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 6:106564196 (GRCh38)
6:107012071 (GRCh37)
Canonical SPDI:: NC_000006.12:106564195:CG:
Gene:: CRYBG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000036/5 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000006.12:g.106564196_106564197del, NC_000006.11:g.107012071_107012072del

Select item 14915411732.

rs1491541173 has merged into rs759953237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:106627756 (GRCh38)
6:107075631 (GRCh37)
Canonical SPDI:: NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106627743:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: QRSL1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0035/2 (NorthernSweden)
-=0.25/9 (GENOME_DK)
HGVS:: NC_000006.12:g.106627756_106627771del, NC_000006.12:g.106627757_106627771del, NC_000006.12:g.106627758_106627771del, NC_000006.12:g.106627759_106627771del, NC_000006.12:g.106627760_106627771del, NC_000006.12:g.106627761_106627771del, NC_000006.12:g.106627762_106627771del, NC_000006.12:g.106627763_106627771del, NC_000006.12:g.106627764_106627771del, NC_000006.12:g.106627765_106627771del, NC_000006.12:g.106627766_106627771del, NC_000006.12:g.106627767_106627771del, NC_000006.12:g.106627768_106627771del, NC_000006.12:g.106627769_106627771del, NC_000006.12:g.106627770_106627771del, NC_000006.12:g.106627771del, NC_000006.12:g.106627771dup, NC_000006.12:g.106627770_106627771dup, NC_000006.12:g.106627769_106627771dup, NC_000006.12:g.106627768_106627771dup, NC_000006.12:g.106627767_106627771dup, NC_000006.12:g.106627766_106627771dup, NC_000006.12:g.106627765_106627771dup, NC_000006.12:g.106627764_106627771dup, NC_000006.12:g.106627763_106627771dup, NC_000006.12:g.106627762_106627771dup, NC_000006.12:g.106627761_106627771dup, NC_000006.12:g.106627760_106627771dup, NC_000006.12:g.106627759_106627771dup, NC_000006.12:g.106627758_106627771dup, NC_000006.12:g.106627757_106627771dup, NC_000006.12:g.106627755_106627771dup, NC_000006.12:g.106627754_106627771dup, NC_000006.12:g.106627751_106627771dup, NC_000006.12:g.106627771_106627772insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.107075631_107075646del, NC_000006.11:g.107075632_107075646del, NC_000006.11:g.107075633_107075646del, NC_000006.11:g.107075634_107075646del, NC_000006.11:g.107075635_107075646del, NC_000006.11:g.107075636_107075646del, NC_000006.11:g.107075637_107075646del, NC_000006.11:g.107075638_107075646del, NC_000006.11:g.107075639_107075646del, NC_000006.11:g.107075640_107075646del, NC_000006.11:g.107075641_107075646del, NC_000006.11:g.107075642_107075646del, NC_000006.11:g.107075643_107075646del, NC_000006.11:g.107075644_107075646del, NC_000006.11:g.107075645_107075646del, NC_000006.11:g.107075646del, NC_000006.11:g.107075646dup, NC_000006.11:g.107075645_107075646dup, NC_000006.11:g.107075644_107075646dup, NC_000006.11:g.107075643_107075646dup, NC_000006.11:g.107075642_107075646dup, NC_000006.11:g.107075641_107075646dup, NC_000006.11:g.107075640_107075646dup, NC_000006.11:g.107075639_107075646dup, NC_000006.11:g.107075638_107075646dup, NC_000006.11:g.107075637_107075646dup, NC_000006.11:g.107075636_107075646dup, NC_000006.11:g.107075635_107075646dup, NC_000006.11:g.107075634_107075646dup, NC_000006.11:g.107075633_107075646dup, NC_000006.11:g.107075632_107075646dup, NC_000006.11:g.107075630_107075646dup, NC_000006.11:g.107075629_107075646dup, NC_000006.11:g.107075626_107075646dup, NC_000006.11:g.107075646_107075647insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047205.1:g.7742_7757del, NG_047205.1:g.7743_7757del, NG_047205.1:g.7744_7757del, NG_047205.1:g.7745_7757del, NG_047205.1:g.7746_7757del, NG_047205.1:g.7747_7757del, NG_047205.1:g.7748_7757del, NG_047205.1:g.7749_7757del, NG_047205.1:g.7750_7757del, NG_047205.1:g.7751_7757del, NG_047205.1:g.7752_7757del, NG_047205.1:g.7753_7757del, NG_047205.1:g.7754_7757del, NG_047205.1:g.7755_7757del, NG_047205.1:g.7756_7757del, NG_047205.1:g.7757del, NG_047205.1:g.7757dup, NG_047205.1:g.7756_7757dup, NG_047205.1:g.7755_7757dup, NG_047205.1:g.7754_7757dup, NG_047205.1:g.7753_7757dup, NG_047205.1:g.7752_7757dup, NG_047205.1:g.7751_7757dup, NG_047205.1:g.7750_7757dup, NG_047205.1:g.7749_7757dup, NG_047205.1:g.7748_7757dup, NG_047205.1:g.7747_7757dup, NG_047205.1:g.7746_7757dup, NG_047205.1:g.7745_7757dup, NG_047205.1:g.7744_7757dup, NG_047205.1:g.7743_7757dup, NG_047205.1:g.7741_7757dup, NG_047205.1:g.7740_7757dup, NG_047205.1:g.7737_7757dup, NG_047205.1:g.7757_7758insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915378223.

rs1491537822 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 6:106565321 (GRCh38)
6:107013197 (GRCh37)
Canonical SPDI:: NC_000006.12:106565321:A:AGA
Gene:: CRYBG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.00069/1 (GnomAD)
HGVS:: NC_000006.12:g.106565322_106565323insGA, NC_000006.11:g.107013197_107013198insGA

Select item 14914932844.

rs1491493284 [Homo sapiens]

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

Select item 14914214005.

rs1491421400 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ACA [Show Flanks]
Chromosome:: 6:106605814 (GRCh38)
6:107053690 (GRCh37)
Canonical SPDI:: NC_000006.12:106605814::A,NC_000006.12:106605814::ACA
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
A=0.05447/737 (TOMMO)
HGVS:: NC_000006.12:g.106605814_106605815insA, NC_000006.12:g.106605814_106605815insACA, NC_000006.11:g.107053689_107053690insA, NC_000006.11:g.107053689_107053690insACA, NG_047205.1:g.29686_29687insT, NG_047205.1:g.29686_29687insTGT

Select item 14914140076.

rs1491414007 has merged into rs879437052 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:106629305 (GRCh38)
6:107077180 (GRCh37)
Canonical SPDI:: NC_000006.12:106629304:GGGGGGG:GGGGGG,NC_000006.12:106629304:GGGGGGG:GGGGGGGG
Gene:: QRSL1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.0011/31 (TOMMO)
-=0.01255/23 (Korea1K)
HGVS:: NC_000006.12:g.106629311del, NC_000006.12:g.106629311dup, NC_000006.11:g.107077186del, NC_000006.11:g.107077186dup, NG_047205.1:g.6196del, NG_047205.1:g.6196dup, NM_032730.5:c.-284del, NM_032730.5:c.-284dup, NM_032730.4:c.-284del, NM_032730.4:c.-284dup, XM_017011376.3:c.-284del, XM_017011376.3:c.-284dup, XM_017011376.2:c.-284del, XM_017011376.2:c.-284dup, XM_017011376.1:c.-284del, XM_017011376.1:c.-284dup

Select item 14914128047.

rs1491412804 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:106627138 (GRCh38)
6:107075013 (GRCh37)
Canonical SPDI:: NC_000006.12:106627137:GG:
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0005/2 (ALFA)
HGVS:: NC_000006.12:g.106627138_106627139del, NC_000006.11:g.107075013_107075014del, NG_047205.1:g.8362_8363del

Select item 14913606208.

rs1491360620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 6:106627744 (GRCh38)
6:107075620 (GRCh37)
Canonical SPDI:: NC_000006.12:106627744:TT:TTCTT
Gene:: QRSL1 (Varview), RTN4IP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00002/1 (GnomAD)
HGVS:: NC_000006.12:g.106627746_106627747insCTT, NC_000006.11:g.107075621_107075622insCTT, NG_047205.1:g.7756_7757insGAA

Select item 14913536479.

rs1491353647 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTTTT [Show Flanks]
Chromosome:: 6:106625662 (GRCh38)
6:107073538 (GRCh37)
Canonical SPDI:: NC_000006.12:106625662:TTTTTTT:TTTTTTTCTTTTTTT
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTCTTTTTTT=0.00008/1 (ALFA)
TTTTTTTC=0.00062/55 (GnomAD)
HGVS:: NC_000006.12:g.106625663_106625669T[7]CTTTTTTT[1], NC_000006.11:g.107073538_107073544T[7]CTTTTTTT[1], NG_047205.1:g.9832_9838A[7]GAAAAAAA[1]

Select item 149135322210.

rs1491353222 has merged into rs1358941422 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 6:106599847 (GRCh38)
6:107047722 (GRCh37)
Canonical SPDI:: NC_000006.12:106599836:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:106599836:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:106599836:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:106599836:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:106599836:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:106599836:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.00336/2 (NorthernSweden)
HGVS:: NC_000006.12:g.106599847_106599850del, NC_000006.12:g.106599848_106599850del, NC_000006.12:g.106599849_106599850del, NC_000006.12:g.106599850del, NC_000006.12:g.106599850dup, NC_000006.12:g.106599849_106599850dup, NC_000006.11:g.107047722_107047725del, NC_000006.11:g.107047723_107047725del, NC_000006.11:g.107047724_107047725del, NC_000006.11:g.107047725del, NC_000006.11:g.107047725dup, NC_000006.11:g.107047724_107047725dup, NG_047205.1:g.35661_35664del, NG_047205.1:g.35662_35664del, NG_047205.1:g.35663_35664del, NG_047205.1:g.35664del, NG_047205.1:g.35664dup, NG_047205.1:g.35663_35664dup

Select item 149134184611.

rs1491341846 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 6:106599836 (GRCh38)
6:107047711 (GRCh37)
Canonical SPDI:: NC_000006.12:106599835:CT:
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000095/13 (GnomAD)
-=0.003114/52 (TOMMO)
HGVS:: NC_000006.12:g.106599836_106599837del, NC_000006.11:g.107047711_107047712del, NG_047205.1:g.35664_35665del

Select item 149131478612.

rs1491314786 has merged into rs773454257 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:106625667 (GRCh38)
6:107073542 (GRCh37)
Canonical SPDI:: NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:106625661:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
TT=0.225/9 (GENOME_DK)
HGVS:: NC_000006.12:g.106625667_106625681del, NC_000006.12:g.106625668_106625681del, NC_000006.12:g.106625669_106625681del, NC_000006.12:g.106625671_106625681del, NC_000006.12:g.106625672_106625681del, NC_000006.12:g.106625673_106625681del, NC_000006.12:g.106625674_106625681del, NC_000006.12:g.106625675_106625681del, NC_000006.12:g.106625676_106625681del, NC_000006.12:g.106625678_106625681del, NC_000006.12:g.106625679_106625681del, NC_000006.12:g.106625680_106625681del, NC_000006.12:g.106625681del, NC_000006.12:g.106625681dup, NC_000006.12:g.106625680_106625681dup, NC_000006.12:g.106625679_106625681dup, NC_000006.12:g.106625678_106625681dup, NC_000006.12:g.106625677_106625681dup, NC_000006.12:g.106625676_106625681dup, NC_000006.12:g.106625675_106625681dup, NC_000006.12:g.106625674_106625681dup, NC_000006.12:g.106625673_106625681dup, NC_000006.12:g.106625672_106625681dup, NC_000006.12:g.106625671_106625681dup, NC_000006.12:g.106625670_106625681dup, NC_000006.12:g.106625669_106625681dup, NC_000006.12:g.106625668_106625681dup, NC_000006.12:g.106625667_106625681dup, NC_000006.12:g.106625666_106625681dup, NC_000006.12:g.106625665_106625681dup, NC_000006.12:g.106625681_106625682insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.106625681_106625682insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.107073542_107073556del, NC_000006.11:g.107073543_107073556del, NC_000006.11:g.107073544_107073556del, NC_000006.11:g.107073546_107073556del, NC_000006.11:g.107073547_107073556del, NC_000006.11:g.107073548_107073556del, NC_000006.11:g.107073549_107073556del, NC_000006.11:g.107073550_107073556del, NC_000006.11:g.107073551_107073556del, NC_000006.11:g.107073553_107073556del, NC_000006.11:g.107073554_107073556del, NC_000006.11:g.107073555_107073556del, NC_000006.11:g.107073556del, NC_000006.11:g.107073556dup, NC_000006.11:g.107073555_107073556dup, NC_000006.11:g.107073554_107073556dup, NC_000006.11:g.107073553_107073556dup, NC_000006.11:g.107073552_107073556dup, NC_000006.11:g.107073551_107073556dup, NC_000006.11:g.107073550_107073556dup, NC_000006.11:g.107073549_107073556dup, NC_000006.11:g.107073548_107073556dup, NC_000006.11:g.107073547_107073556dup, NC_000006.11:g.107073546_107073556dup, NC_000006.11:g.107073545_107073556dup, NC_000006.11:g.107073544_107073556dup, NC_000006.11:g.107073543_107073556dup, NC_000006.11:g.107073542_107073556dup, NC_000006.11:g.107073541_107073556dup, NC_000006.11:g.107073540_107073556dup, NC_000006.11:g.107073556_107073557insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.107073556_107073557insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047205.1:g.9825_9839del, NG_047205.1:g.9826_9839del, NG_047205.1:g.9827_9839del, NG_047205.1:g.9829_9839del, NG_047205.1:g.9830_9839del, NG_047205.1:g.9831_9839del, NG_047205.1:g.9832_9839del, NG_047205.1:g.9833_9839del, NG_047205.1:g.9834_9839del, NG_047205.1:g.9836_9839del, NG_047205.1:g.9837_9839del, NG_047205.1:g.9838_9839del, NG_047205.1:g.9839del, NG_047205.1:g.9839dup, NG_047205.1:g.9838_9839dup, NG_047205.1:g.9837_9839dup, NG_047205.1:g.9836_9839dup, NG_047205.1:g.9835_9839dup, NG_047205.1:g.9834_9839dup, NG_047205.1:g.9833_9839dup, NG_047205.1:g.9832_9839dup, NG_047205.1:g.9831_9839dup, NG_047205.1:g.9830_9839dup, NG_047205.1:g.9829_9839dup, NG_047205.1:g.9828_9839dup, NG_047205.1:g.9827_9839dup, NG_047205.1:g.9826_9839dup, NG_047205.1:g.9825_9839dup, NG_047205.1:g.9824_9839dup, NG_047205.1:g.9823_9839dup, NG_047205.1:g.9839_9840insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_047205.1:g.9839_9840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149129876113.

rs1491298761 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 6:106605815 (GRCh38)
6:107053690 (GRCh37)
Canonical SPDI:: NC_000006.12:106605813:CCC:C,NC_000006.12:106605813:CCC:CC
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
-=0.00171/61 (GnomAD)
-=0.00267/4 (Korea1K)
HGVS:: NC_000006.12:g.106605815_106605816del, NC_000006.12:g.106605816del, NC_000006.11:g.107053690_107053691del, NC_000006.11:g.107053691del, NG_047205.1:g.29686_29687del, NG_047205.1:g.29687del

Select item 149127711014.

rs1491277110 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 6:106564197 (GRCh38)
6:107012072 (GRCh37)
Canonical SPDI:: NC_000006.12:106564196:GG:G,NC_000006.12:106564196:GG:GGG
Gene:: CRYBG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00021/4 (TOMMO)
-=0.00164/3 (Korea1K)
-=0.125/1 (KOREAN)
HGVS:: NC_000006.12:g.106564198del, NC_000006.12:g.106564198dup, NC_000006.11:g.107012073del, NC_000006.11:g.107012073dup

Select item 149120703215.

rs1491207032 has merged into rs10681180 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 6:106565330 (GRCh38)
6:107013205 (GRCh37)
Canonical SPDI:: NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAA,NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:106565320:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: CRYBG1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2011/1007 (1000Genomes)
HGVS:: NC_000006.12:g.106565330_106565332del, NC_000006.12:g.106565331_106565332del, NC_000006.12:g.106565332del, NC_000006.12:g.106565332dup, NC_000006.12:g.106565331_106565332dup, NC_000006.12:g.106565330_106565332dup, NC_000006.12:g.106565329_106565332dup, NC_000006.11:g.107013205_107013207del, NC_000006.11:g.107013206_107013207del, NC_000006.11:g.107013207del, NC_000006.11:g.107013207dup, NC_000006.11:g.107013206_107013207dup, NC_000006.11:g.107013205_107013207dup, NC_000006.11:g.107013204_107013207dup

Select item 149099501716.

rs1490995017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:106610182 (GRCh38)
6:107058057 (GRCh37)
Canonical SPDI:: NC_000006.12:106610181:C:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.106610182C>T, NC_000006.11:g.107058057C>T, NG_047205.1:g.25319G>A

Select item 149099233617.

rs1490992336 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTA [Show Flanks]
Chromosome:: 6:106569356 (GRCh38)
6:107017232 (GRCh37)
Canonical SPDI:: NC_000006.12:106569356:ACTA:ACTACTA
Gene:: CRYBG1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACTACTA=0./0 (ALFA)
ACT=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106569358_106569360dup, NC_000006.11:g.107017233_107017235dup, NG_047205.1:g.66142_66144dup, NM_001624.4:c.*792_*794dup, NM_001624.3:c.*792_*794dup, NM_001624.2:c.*792_*794dup, NM_001371242.2:c.*792_*794dup, NM_001371242.1:c.*792_*794dup, XM_047418270.1:c.*792_*794dup

Select item 149097675318.

rs1490976753 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:106577432 (GRCh38)
6:107025307 (GRCh37)
Canonical SPDI:: NC_000006.12:106577431:A:C,NC_000006.12:106577431:A:G
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000006.12:g.106577432A>C, NC_000006.12:g.106577432A>G, NC_000006.11:g.107025307A>C, NC_000006.11:g.107025307A>G, NG_047205.1:g.58069T>G, NG_047205.1:g.58069T>C

Select item 149091710419.

rs1490917104 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:106610004 (GRCh38)
6:107057879 (GRCh37)
Canonical SPDI:: NC_000006.12:106610003:A:G
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.106610004A>G, NC_000006.11:g.107057879A>G, NG_047205.1:g.25497T>C

Select item 149090190420.

rs1490901904 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:106609889 (GRCh38)
6:107057764 (GRCh37)
Canonical SPDI:: NC_000006.12:106609888:A:T
Gene:: RTN4IP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.106609889A>T, NC_000006.11:g.107057764A>T, NG_047205.1:g.25612T>A

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