SNP Links for Gene (Select 10128) - SNP

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Select item 14915655091.

rs1491565509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGATATTGTC [Show Flanks]
Chromosome:: 2:43890965 (GRCh38)
2:44118105 (GRCh37)
Canonical SPDI:: NC_000002.12:43890965:TCTGATATTGTC:TCTGATATTGTCTGATATTGTC
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTGATATTGTCTGATATTGTC=0.000054/1 (ALFA)
TCTGATATTG=0.000019/5 (TOPMED)
TCTGATATTG=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.43890968_43890977dup, NC_000002.11:g.44118107_44118116dup, NG_008247.1:g.110031_110040dup

Select item 14915642282.

rs1491564228 has merged into rs1001509187 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:43896232 (GRCh38)
2:44123371 (GRCh37)
Canonical SPDI:: NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:43896222:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRPPRC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.43896232_43896243del, NC_000002.12:g.43896233_43896243del, NC_000002.12:g.43896234_43896243del, NC_000002.12:g.43896236_43896243del, NC_000002.12:g.43896237_43896243del, NC_000002.12:g.43896238_43896243del, NC_000002.12:g.43896239_43896243del, NC_000002.12:g.43896240_43896243del, NC_000002.12:g.43896241_43896243del, NC_000002.12:g.43896242_43896243del, NC_000002.12:g.43896243del, NC_000002.12:g.43896243dup, NC_000002.12:g.43896242_43896243dup, NC_000002.12:g.43896241_43896243dup, NC_000002.12:g.43896240_43896243dup, NC_000002.12:g.43896239_43896243dup, NC_000002.12:g.43896238_43896243dup, NC_000002.12:g.43896237_43896243dup, NC_000002.12:g.43896234_43896243dup, NC_000002.12:g.43896233_43896243dup, NC_000002.12:g.43896232_43896243dup, NC_000002.12:g.43896231_43896243dup, NC_000002.12:g.43896229_43896243dup, NC_000002.12:g.43896223_43896243dup, NC_000002.12:g.43896243_43896244insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.44123371_44123382del, NC_000002.11:g.44123372_44123382del, NC_000002.11:g.44123373_44123382del, NC_000002.11:g.44123375_44123382del, NC_000002.11:g.44123376_44123382del, NC_000002.11:g.44123377_44123382del, NC_000002.11:g.44123378_44123382del, NC_000002.11:g.44123379_44123382del, NC_000002.11:g.44123380_44123382del, NC_000002.11:g.44123381_44123382del, NC_000002.11:g.44123382del, NC_000002.11:g.44123382dup, NC_000002.11:g.44123381_44123382dup, NC_000002.11:g.44123380_44123382dup, NC_000002.11:g.44123379_44123382dup, NC_000002.11:g.44123378_44123382dup, NC_000002.11:g.44123377_44123382dup, NC_000002.11:g.44123376_44123382dup, NC_000002.11:g.44123373_44123382dup, NC_000002.11:g.44123372_44123382dup, NC_000002.11:g.44123371_44123382dup, NC_000002.11:g.44123370_44123382dup, NC_000002.11:g.44123368_44123382dup, NC_000002.11:g.44123362_44123382dup, NC_000002.11:g.44123382_44123383insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008247.1:g.104772_104783del, NG_008247.1:g.104773_104783del, NG_008247.1:g.104774_104783del, NG_008247.1:g.104776_104783del, NG_008247.1:g.104777_104783del, NG_008247.1:g.104778_104783del, NG_008247.1:g.104779_104783del, NG_008247.1:g.104780_104783del, NG_008247.1:g.104781_104783del, NG_008247.1:g.104782_104783del, NG_008247.1:g.104783del, NG_008247.1:g.104783dup, NG_008247.1:g.104782_104783dup, NG_008247.1:g.104781_104783dup, NG_008247.1:g.104780_104783dup, NG_008247.1:g.104779_104783dup, NG_008247.1:g.104778_104783dup, NG_008247.1:g.104777_104783dup, NG_008247.1:g.104774_104783dup, NG_008247.1:g.104773_104783dup, NG_008247.1:g.104772_104783dup, NG_008247.1:g.104771_104783dup, NG_008247.1:g.104769_104783dup, NG_008247.1:g.104763_104783dup, NG_008247.1:g.104783_104784insAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915514073.

rs1491551407 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:43904724 (GRCh38)
2:44131864 (GRCh37)
Canonical SPDI:: NC_000002.12:43904724:C:CC
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000002.12:g.43904725dup, NC_000002.11:g.44131864dup, NG_008247.1:g.96281dup, NG_045022.1:g.414dup

Select item 14915453434.

rs1491545343 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:43971991 (GRCh38)
2:44199130 (GRCh37)
Canonical SPDI:: NC_000002.12:43971986:CTCTCT:CTCT
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000023/3 (GnomAD)
HGVS:: NC_000002.12:g.43971987CT[2], NC_000002.11:g.44199126CT[2], NG_008247.1:g.29014AG[2]

Select item 14915445785.

rs1491544578 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:43980553 (GRCh38)
2:44207692 (GRCh37)
Canonical SPDI:: NC_000002.12:43980552:CA:
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00118/14 (ALFA)
HGVS:: NC_000002.12:g.43980553_43980554del, NC_000002.11:g.44207692_44207693del, NG_008247.1:g.20452_20453del

Select item 14914972766.

rs1491497276 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACAAAAAA [Show Flanks]
Chromosome:: 2:43915054 (GRCh38)
2:44142194 (GRCh37)
Canonical SPDI:: NC_000002.12:43915054:AAAAAA:AAAAAATACAAAAAA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAATACAAAAAA=0./0 (ALFA)
AAAAAATAC=0.00021/3 (GnomAD)
HGVS:: NC_000002.12:g.43915055_43915060A[6]TACAAAAAA[1], NC_000002.11:g.44142194_44142199A[6]TACAAAAAA[1], NG_008247.1:g.85946_85951T[6]GTATTTTTT[1]

Select item 14914790927.

rs1491479092 has merged into rs1023425078 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:43920089 (GRCh38)
2:44147228 (GRCh37)
Canonical SPDI:: NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43920079:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.0988/48 (NorthernSweden)
HGVS:: NC_000002.12:g.43920089_43920102del, NC_000002.12:g.43920093_43920102del, NC_000002.12:g.43920094_43920102del, NC_000002.12:g.43920095_43920102del, NC_000002.12:g.43920096_43920102del, NC_000002.12:g.43920098_43920102del, NC_000002.12:g.43920099_43920102del, NC_000002.12:g.43920100_43920102del, NC_000002.12:g.43920101_43920102del, NC_000002.12:g.43920102del, NC_000002.12:g.43920102dup, NC_000002.12:g.43920101_43920102dup, NC_000002.12:g.43920100_43920102dup, NC_000002.12:g.43920084_43920102dup, NC_000002.11:g.44147228_44147241del, NC_000002.11:g.44147232_44147241del, NC_000002.11:g.44147233_44147241del, NC_000002.11:g.44147234_44147241del, NC_000002.11:g.44147235_44147241del, NC_000002.11:g.44147237_44147241del, NC_000002.11:g.44147238_44147241del, NC_000002.11:g.44147239_44147241del, NC_000002.11:g.44147240_44147241del, NC_000002.11:g.44147241del, NC_000002.11:g.44147241dup, NC_000002.11:g.44147240_44147241dup, NC_000002.11:g.44147239_44147241dup, NC_000002.11:g.44147223_44147241dup, NG_008247.1:g.80913_80926del, NG_008247.1:g.80917_80926del, NG_008247.1:g.80918_80926del, NG_008247.1:g.80919_80926del, NG_008247.1:g.80920_80926del, NG_008247.1:g.80922_80926del, NG_008247.1:g.80923_80926del, NG_008247.1:g.80924_80926del, NG_008247.1:g.80925_80926del, NG_008247.1:g.80926del, NG_008247.1:g.80926dup, NG_008247.1:g.80925_80926dup, NG_008247.1:g.80924_80926dup, NG_008247.1:g.80908_80926dup

Select item 14914689858.

rs1491468985 has merged into rs942828213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 2:43888911 (GRCh38)
2:44116050 (GRCh37)
Canonical SPDI:: NC_000002.12:43888902:TGTGTGTGTG:TGTGTGTG,NC_000002.12:43888902:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000002.12:g.43888903TG[4], NC_000002.12:g.43888903TG[6], NC_000002.11:g.44116042TG[4], NC_000002.11:g.44116042TG[6], NG_008247.1:g.112094CA[4], NG_008247.1:g.112094CA[6]

Select item 14914551039.

rs1491455103 has merged into rs780032604 [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,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:43889325 (GRCh38)
2:44116464 (GRCh37)
Canonical SPDI:: NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43889314:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.43889325_43889339del, NC_000002.12:g.43889326_43889339del, NC_000002.12:g.43889327_43889339del, NC_000002.12:g.43889328_43889339del, NC_000002.12:g.43889329_43889339del, NC_000002.12:g.43889330_43889339del, NC_000002.12:g.43889331_43889339del, NC_000002.12:g.43889332_43889339del, NC_000002.12:g.43889333_43889339del, NC_000002.12:g.43889334_43889339del, NC_000002.12:g.43889335_43889339del, NC_000002.12:g.43889336_43889339del, NC_000002.12:g.43889337_43889339del, NC_000002.12:g.43889338_43889339del, NC_000002.12:g.43889339del, NC_000002.12:g.43889339dup, NC_000002.12:g.43889338_43889339dup, NC_000002.12:g.43889337_43889339dup, NC_000002.12:g.43889336_43889339dup, NC_000002.12:g.43889335_43889339dup, NC_000002.12:g.43889334_43889339dup, NC_000002.12:g.43889333_43889339dup, NC_000002.12:g.43889332_43889339dup, NC_000002.12:g.43889331_43889339dup, NC_000002.12:g.43889330_43889339dup, NC_000002.12:g.43889329_43889339dup, NC_000002.12:g.43889328_43889339dup, NC_000002.12:g.43889327_43889339dup, NC_000002.12:g.43889326_43889339dup, NC_000002.12:g.43889325_43889339dup, NC_000002.12:g.43889324_43889339dup, NC_000002.12:g.43889321_43889339dup, NC_000002.12:g.43889317_43889339dup, NC_000002.11:g.44116464_44116478del, NC_000002.11:g.44116465_44116478del, NC_000002.11:g.44116466_44116478del, NC_000002.11:g.44116467_44116478del, NC_000002.11:g.44116468_44116478del, NC_000002.11:g.44116469_44116478del, NC_000002.11:g.44116470_44116478del, NC_000002.11:g.44116471_44116478del, NC_000002.11:g.44116472_44116478del, NC_000002.11:g.44116473_44116478del, NC_000002.11:g.44116474_44116478del, NC_000002.11:g.44116475_44116478del, NC_000002.11:g.44116476_44116478del, NC_000002.11:g.44116477_44116478del, NC_000002.11:g.44116478del, NC_000002.11:g.44116478dup, NC_000002.11:g.44116477_44116478dup, NC_000002.11:g.44116476_44116478dup, NC_000002.11:g.44116475_44116478dup, NC_000002.11:g.44116474_44116478dup, NC_000002.11:g.44116473_44116478dup, NC_000002.11:g.44116472_44116478dup, NC_000002.11:g.44116471_44116478dup, NC_000002.11:g.44116470_44116478dup, NC_000002.11:g.44116469_44116478dup, NC_000002.11:g.44116468_44116478dup, NC_000002.11:g.44116467_44116478dup, NC_000002.11:g.44116466_44116478dup, NC_000002.11:g.44116465_44116478dup, NC_000002.11:g.44116464_44116478dup, NC_000002.11:g.44116463_44116478dup, NC_000002.11:g.44116460_44116478dup, NC_000002.11:g.44116456_44116478dup, NG_008247.1:g.111677_111691del, NG_008247.1:g.111678_111691del, NG_008247.1:g.111679_111691del, NG_008247.1:g.111680_111691del, NG_008247.1:g.111681_111691del, NG_008247.1:g.111682_111691del, NG_008247.1:g.111683_111691del, NG_008247.1:g.111684_111691del, NG_008247.1:g.111685_111691del, NG_008247.1:g.111686_111691del, NG_008247.1:g.111687_111691del, NG_008247.1:g.111688_111691del, NG_008247.1:g.111689_111691del, NG_008247.1:g.111690_111691del, NG_008247.1:g.111691del, NG_008247.1:g.111691dup, NG_008247.1:g.111690_111691dup, NG_008247.1:g.111689_111691dup, NG_008247.1:g.111688_111691dup, NG_008247.1:g.111687_111691dup, NG_008247.1:g.111686_111691dup, NG_008247.1:g.111685_111691dup, NG_008247.1:g.111684_111691dup, NG_008247.1:g.111683_111691dup, NG_008247.1:g.111682_111691dup, NG_008247.1:g.111681_111691dup, NG_008247.1:g.111680_111691dup, NG_008247.1:g.111679_111691dup, NG_008247.1:g.111678_111691dup, NG_008247.1:g.111677_111691dup, NG_008247.1:g.111676_111691dup, NG_008247.1:g.111673_111691dup, NG_008247.1:g.111669_111691dup

Select item 149144844810.

rs1491448448 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 2:43898089 (GRCh38)
2:44125228 (GRCh37)
Canonical SPDI:: NC_000002.12:43898087:ACA:A,NC_000002.12:43898087:ACA:ACACA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000002.12:g.43898089_43898090del, NC_000002.12:g.43898089_43898090dup, NC_000002.11:g.44125228_44125229del, NC_000002.11:g.44125228_44125229dup, NG_008247.1:g.102917_102918del, NG_008247.1:g.102917_102918dup

Select item 149144226011.

rs1491442260 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:43904725 (GRCh38)
2:44131864 (GRCh37)
Canonical SPDI:: NC_000002.12:43904723:ACA:A
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000037/5 (GnomAD)
HGVS:: NC_000002.12:g.43904725_43904726del, NC_000002.11:g.44131864_44131865del, NG_008247.1:g.96281_96282del, NG_045022.1:g.414_415del

Select item 149138247812.

rs1491382478 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 2:43896223 (GRCh38)
2:44123363 (GRCh37)
Canonical SPDI:: NC_000002.12:43896223:TT:TTCTT
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.43896225_43896226insCTT, NC_000002.11:g.44123364_44123365insCTT, NG_008247.1:g.104782_104783insGAA

Select item 149120344813.

rs1491203448 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGTGTGT,TTGTGTGT [Show Flanks]
Chromosome:: 2:43956479 (GRCh38)
2:44183619 (GRCh37)
Canonical SPDI:: NC_000002.12:43956479:TGTGTGT:TGTGTGTATGTGTGT,NC_000002.12:43956479:TGTGTGT:TGTGTGTTTGTGTGT
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTTTGTGTGT=0./0 (ALFA)
TGTGTGTT=0.000004/1 (TOPMED)
TGTGTGTA=0.000071/1 (TOMMO)
HGVS:: NC_000002.12:g.43956480_43956486TG[3]TATGTGTGT[1], NC_000002.12:g.43956480_43956486TG[3]TTTGTGTGT[1], NC_000002.11:g.44183619_44183625TG[3]TATGTGTGT[1], NC_000002.11:g.44183619_44183625TG[3]TTTGTGTGT[1], NG_008247.1:g.44520_44526AC[3]ATACACACA[1], NG_008247.1:g.44520_44526AC[3]AAACACACA[1]

Select item 149120123214.

rs1491201232 has merged into rs145131663 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:43980559 (GRCh38)
2:44207698 (GRCh37)
Canonical SPDI:: NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:43980553:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.00065/172 (TOPMED)
-=0.003831/2 (NorthernSweden)
HGVS:: NC_000002.12:g.43980559_43980570del, NC_000002.12:g.43980560_43980570del, NC_000002.12:g.43980562_43980570del, NC_000002.12:g.43980564_43980570del, NC_000002.12:g.43980565_43980570del, NC_000002.12:g.43980567_43980570del, NC_000002.12:g.43980568_43980570del, NC_000002.12:g.43980569_43980570del, NC_000002.12:g.43980570del, NC_000002.12:g.43980570dup, NC_000002.12:g.43980569_43980570dup, NC_000002.12:g.43980568_43980570dup, NC_000002.11:g.44207698_44207709del, NC_000002.11:g.44207699_44207709del, NC_000002.11:g.44207701_44207709del, NC_000002.11:g.44207703_44207709del, NC_000002.11:g.44207704_44207709del, NC_000002.11:g.44207706_44207709del, NC_000002.11:g.44207707_44207709del, NC_000002.11:g.44207708_44207709del, NC_000002.11:g.44207709del, NC_000002.11:g.44207709dup, NC_000002.11:g.44207708_44207709dup, NC_000002.11:g.44207707_44207709dup, NG_008247.1:g.20441_20452del, NG_008247.1:g.20442_20452del, NG_008247.1:g.20444_20452del, NG_008247.1:g.20446_20452del, NG_008247.1:g.20447_20452del, NG_008247.1:g.20449_20452del, NG_008247.1:g.20450_20452del, NG_008247.1:g.20451_20452del, NG_008247.1:g.20452del, NG_008247.1:g.20452dup, NG_008247.1:g.20451_20452dup, NG_008247.1:g.20450_20452dup

Select item 149120024015.

rs1491200240 has merged into rs71393213 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAAAAA>-,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:43915059 (GRCh38)
2:44142198 (GRCh37)
Canonical SPDI:: NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43915053:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0.0006/3 (1000Genomes)
HGVS:: NC_000002.12:g.43915059_43915080del, NC_000002.12:g.43915065_43915080del, NC_000002.12:g.43915067_43915080del, NC_000002.12:g.43915068_43915080del, NC_000002.12:g.43915069_43915080del, NC_000002.12:g.43915070_43915080del, NC_000002.12:g.43915071_43915080del, NC_000002.12:g.43915072_43915080del, NC_000002.12:g.43915073_43915080del, NC_000002.12:g.43915074_43915080del, NC_000002.12:g.43915075_43915080del, NC_000002.12:g.43915076_43915080del, NC_000002.12:g.43915077_43915080del, NC_000002.12:g.43915078_43915080del, NC_000002.12:g.43915079_43915080del, NC_000002.12:g.43915080del, NC_000002.12:g.43915080dup, NC_000002.12:g.43915079_43915080dup, NC_000002.12:g.43915078_43915080dup, NC_000002.12:g.43915077_43915080dup, NC_000002.12:g.43915076_43915080dup, NC_000002.12:g.43915073_43915080dup, NC_000002.12:g.43915072_43915080dup, NC_000002.12:g.43915070_43915080dup, NC_000002.11:g.44142198_44142219del, NC_000002.11:g.44142204_44142219del, NC_000002.11:g.44142206_44142219del, NC_000002.11:g.44142207_44142219del, NC_000002.11:g.44142208_44142219del, NC_000002.11:g.44142209_44142219del, NC_000002.11:g.44142210_44142219del, NC_000002.11:g.44142211_44142219del, NC_000002.11:g.44142212_44142219del, NC_000002.11:g.44142213_44142219del, NC_000002.11:g.44142214_44142219del, NC_000002.11:g.44142215_44142219del, NC_000002.11:g.44142216_44142219del, NC_000002.11:g.44142217_44142219del, NC_000002.11:g.44142218_44142219del, NC_000002.11:g.44142219del, NC_000002.11:g.44142219dup, NC_000002.11:g.44142218_44142219dup, NC_000002.11:g.44142217_44142219dup, NC_000002.11:g.44142216_44142219dup, NC_000002.11:g.44142215_44142219dup, NC_000002.11:g.44142212_44142219dup, NC_000002.11:g.44142211_44142219dup, NC_000002.11:g.44142209_44142219dup, NG_008247.1:g.85931_85952del, NG_008247.1:g.85937_85952del, NG_008247.1:g.85939_85952del, NG_008247.1:g.85940_85952del, NG_008247.1:g.85941_85952del, NG_008247.1:g.85942_85952del, NG_008247.1:g.85943_85952del, NG_008247.1:g.85944_85952del, NG_008247.1:g.85945_85952del, NG_008247.1:g.85946_85952del, NG_008247.1:g.85947_85952del, NG_008247.1:g.85948_85952del, NG_008247.1:g.85949_85952del, NG_008247.1:g.85950_85952del, NG_008247.1:g.85951_85952del, NG_008247.1:g.85952del, NG_008247.1:g.85952dup, NG_008247.1:g.85951_85952dup, NG_008247.1:g.85950_85952dup, NG_008247.1:g.85949_85952dup, NG_008247.1:g.85948_85952dup, NG_008247.1:g.85945_85952dup, NG_008247.1:g.85944_85952dup, NG_008247.1:g.85942_85952dup

Select item 149116925816.

rs1491169258 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:43916950 (GRCh38)
2:44144089 (GRCh37)
Canonical SPDI:: NC_000002.12:43916949:GA:
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000517/55 (GnomAD)
-=0.007198/13 (Korea1K)
HGVS:: NC_000002.12:g.43916950_43916951del, NC_000002.11:g.44144089_44144090del, NG_008247.1:g.84055_84056del

Select item 149115105217.

rs1491151052 has merged into rs56919652 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:43956491 (GRCh38)
2:44183630 (GRCh37)
Canonical SPDI:: NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:43956478:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.43956479GT[6], NC_000002.12:g.43956479GT[7], NC_000002.12:g.43956479GT[8], NC_000002.12:g.43956479GT[10], NC_000002.12:g.43956479GT[11], NC_000002.12:g.43956479GT[12], NC_000002.12:g.43956479GT[13], NC_000002.12:g.43956479GT[14], NC_000002.12:g.43956479GT[15], NC_000002.12:g.43956479GT[16], NC_000002.12:g.43956479GT[17], NC_000002.12:g.43956479GT[19], NC_000002.12:g.43956479GT[20], NC_000002.12:g.43956479GT[21], NC_000002.12:g.43956479GT[22], NC_000002.12:g.43956479GT[23], NC_000002.12:g.43956479GT[24], NC_000002.12:g.43956479GT[25], NC_000002.12:g.43956479GT[26], NC_000002.12:g.43956479GT[27], NC_000002.12:g.43956479GT[28], NC_000002.12:g.43956479GT[29], NC_000002.12:g.43956479GT[30], NC_000002.12:g.43956479GT[31], NC_000002.12:g.43956479GT[32], NC_000002.12:g.43956479GT[33], NC_000002.12:g.43956479GT[34], NC_000002.12:g.43956479GT[35], NC_000002.12:g.43956479GT[37], NC_000002.12:g.43956479GT[38], NC_000002.11:g.44183618GT[6], NC_000002.11:g.44183618GT[7], NC_000002.11:g.44183618GT[8], NC_000002.11:g.44183618GT[10], NC_000002.11:g.44183618GT[11], NC_000002.11:g.44183618GT[12], NC_000002.11:g.44183618GT[13], NC_000002.11:g.44183618GT[14], NC_000002.11:g.44183618GT[15], NC_000002.11:g.44183618GT[16], NC_000002.11:g.44183618GT[17], NC_000002.11:g.44183618GT[19], NC_000002.11:g.44183618GT[20], NC_000002.11:g.44183618GT[21], NC_000002.11:g.44183618GT[22], NC_000002.11:g.44183618GT[23], NC_000002.11:g.44183618GT[24], NC_000002.11:g.44183618GT[25], NC_000002.11:g.44183618GT[26], NC_000002.11:g.44183618GT[27], NC_000002.11:g.44183618GT[28], NC_000002.11:g.44183618GT[29], NC_000002.11:g.44183618GT[30], NC_000002.11:g.44183618GT[31], NC_000002.11:g.44183618GT[32], NC_000002.11:g.44183618GT[33], NC_000002.11:g.44183618GT[34], NC_000002.11:g.44183618GT[35], NC_000002.11:g.44183618GT[37], NC_000002.11:g.44183618GT[38], NG_008247.1:g.44492AC[6], NG_008247.1:g.44492AC[7], NG_008247.1:g.44492AC[8], NG_008247.1:g.44492AC[10], NG_008247.1:g.44492AC[11], NG_008247.1:g.44492AC[12], NG_008247.1:g.44492AC[13], NG_008247.1:g.44492AC[14], NG_008247.1:g.44492AC[15], NG_008247.1:g.44492AC[16], NG_008247.1:g.44492AC[17], NG_008247.1:g.44492AC[19], NG_008247.1:g.44492AC[20], NG_008247.1:g.44492AC[21], NG_008247.1:g.44492AC[22], NG_008247.1:g.44492AC[23], NG_008247.1:g.44492AC[24], NG_008247.1:g.44492AC[25], NG_008247.1:g.44492AC[26], NG_008247.1:g.44492AC[27], NG_008247.1:g.44492AC[28], NG_008247.1:g.44492AC[29], NG_008247.1:g.44492AC[30], NG_008247.1:g.44492AC[31], NG_008247.1:g.44492AC[32], NG_008247.1:g.44492AC[33], NG_008247.1:g.44492AC[34], NG_008247.1:g.44492AC[35], NG_008247.1:g.44492AC[37], NG_008247.1:g.44492AC[38]

Select item 149109373818.

rs1491093738 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:43911524 (GRCh38)
2:44138664 (GRCh37)
Canonical SPDI:: NC_000002.12:43911524:T:TCT
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.43911525_43911526insCT, NC_000002.11:g.44138664_44138665insCT, NG_008247.1:g.89481_89482insGA

Select item 149108890019.

rs1491088900 has merged into rs9309110 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:43923186 (GRCh38)
2:44150325 (GRCh37)
Canonical SPDI:: NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:43923177:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
A=0.342053/1713 (1000Genomes)
HGVS:: NC_000002.12:g.43923186_43923196del, NC_000002.12:g.43923187_43923196del, NC_000002.12:g.43923194_43923196del, NC_000002.12:g.43923195_43923196del, NC_000002.12:g.43923196del, NC_000002.12:g.43923196dup, NC_000002.12:g.43923195_43923196dup, NC_000002.12:g.43923194_43923196dup, NC_000002.12:g.43923193_43923196dup, NC_000002.12:g.43923192_43923196dup, NC_000002.11:g.44150325_44150335del, NC_000002.11:g.44150326_44150335del, NC_000002.11:g.44150333_44150335del, NC_000002.11:g.44150334_44150335del, NC_000002.11:g.44150335del, NC_000002.11:g.44150335dup, NC_000002.11:g.44150334_44150335dup, NC_000002.11:g.44150333_44150335dup, NC_000002.11:g.44150332_44150335dup, NC_000002.11:g.44150331_44150335dup, NG_008247.1:g.77818_77828del, NG_008247.1:g.77819_77828del, NG_008247.1:g.77826_77828del, NG_008247.1:g.77827_77828del, NG_008247.1:g.77828del, NG_008247.1:g.77828dup, NG_008247.1:g.77827_77828dup, NG_008247.1:g.77826_77828dup, NG_008247.1:g.77825_77828dup, NG_008247.1:g.77824_77828dup

Select item 149107449020.

rs1491074490 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 2:43918792 (GRCh38)
2:44145931 (GRCh37)
Canonical SPDI:: NC_000002.12:43918790:AGA:A,NC_000002.12:43918790:AGA:AGAGA
Gene:: LRPPRC (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00051/12 (GnomAD)
HGVS:: NC_000002.12:g.43918792_43918793del, NC_000002.12:g.43918792_43918793dup, NC_000002.11:g.44145931_44145932del, NC_000002.11:g.44145931_44145932dup, NG_008247.1:g.82214_82215del, NG_008247.1:g.82214_82215dup

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