SNP Links for Gene (Select 10741) - SNP

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Select item 14914797121.

rs1491479712 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAT [Show Flanks]
Chromosome:: 20:18486158 (GRCh38)
20:18466803 (GRCh37)
Canonical SPDI:: NC_000020.11:18486158:TAT:TATCTAT
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATCTAT=0.01071/127 (ALFA)
TATC=0.00008/1 (TOMMO)
TATC=0.00016/5 (GnomAD)
HGVS:: NC_000020.11:g.18486161_18486162insCTAT, NC_000020.10:g.18466805_18466806insCTAT, NG_000976.4:g.1037_1038insCTAT

Select item 14914453612.

rs1491445361 has merged into rs34967358 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:18494292 (GRCh38)
20:18474936 (GRCh37)
Canonical SPDI:: NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:18494282:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000042/11 (TOPMED)
-=0.248573/958 (ALSPAC)
HGVS:: NC_000020.11:g.18494292_18494300del, NC_000020.11:g.18494293_18494300del, NC_000020.11:g.18494295_18494300del, NC_000020.11:g.18494296_18494300del, NC_000020.11:g.18494297_18494300del, NC_000020.11:g.18494298_18494300del, NC_000020.11:g.18494299_18494300del, NC_000020.11:g.18494300del, NC_000020.11:g.18494300dup, NC_000020.11:g.18494299_18494300dup, NC_000020.11:g.18494298_18494300dup, NC_000020.11:g.18494297_18494300dup, NC_000020.11:g.18494293_18494300dup, NC_000020.11:g.18494292_18494300dup, NC_000020.11:g.18494284_18494300dup, NC_000020.11:g.18494300_18494301insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.18474936_18474944del, NC_000020.10:g.18474937_18474944del, NC_000020.10:g.18474939_18474944del, NC_000020.10:g.18474940_18474944del, NC_000020.10:g.18474941_18474944del, NC_000020.10:g.18474942_18474944del, NC_000020.10:g.18474943_18474944del, NC_000020.10:g.18474944del, NC_000020.10:g.18474944dup, NC_000020.10:g.18474943_18474944dup, NC_000020.10:g.18474942_18474944dup, NC_000020.10:g.18474941_18474944dup, NC_000020.10:g.18474937_18474944dup, NC_000020.10:g.18474936_18474944dup, NC_000020.10:g.18474928_18474944dup, NC_000020.10:g.18474944_18474945insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913436953.

rs1491343695 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:18486151 (GRCh38)
20:18466795 (GRCh37)
Canonical SPDI:: NC_000020.11:18486149:AAA:A
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00044/3 (GnomAD)
-=0.00307/3 (Korea1K)
-=0.00693/65 (TOMMO)
HGVS:: NC_000020.11:g.18486151_18486152del, NC_000020.10:g.18466795_18466796del, NG_000976.4:g.1027_1028del

Select item 14913055674.

rs1491305567 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:18494283 (GRCh38)
20:18474928 (GRCh37)
Canonical SPDI:: NC_000020.11:18494283::C
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00034/4 (ALFA)
C=0.00011/1 (TOMMO)
C=0.08333/32 (GnomAD)
HGVS:: NC_000020.11:g.18494283_18494284insC, NC_000020.10:g.18474927_18474928insC

Select item 14912931645.

rs1491293164 has merged into rs11476688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 20:18495657 (GRCh38)
20:18476301 (GRCh37)
Canonical SPDI:: NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0424/24 (NorthernSweden)
A=0.3/12 (GENOME_DK)
-=0.46386/2323 (1000Genomes)
HGVS:: NC_000020.11:g.18495657_18495662del, NC_000020.11:g.18495659_18495662del, NC_000020.11:g.18495660_18495662del, NC_000020.11:g.18495661_18495662del, NC_000020.11:g.18495662del, NC_000020.11:g.18495662dup, NC_000020.11:g.18495661_18495662dup, NC_000020.11:g.18495659_18495662dup, NC_000020.10:g.18476301_18476306del, NC_000020.10:g.18476303_18476306del, NC_000020.10:g.18476304_18476306del, NC_000020.10:g.18476305_18476306del, NC_000020.10:g.18476306del, NC_000020.10:g.18476306dup, NC_000020.10:g.18476305_18476306dup, NC_000020.10:g.18476303_18476306dup

Select item 14912787616.

rs1491278761 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,ATATAT,ATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 20:18486160 (GRCh38)
20:18466804 (GRCh37)
Canonical SPDI:: NC_000020.11:18486157:ATATATATATAT:AT,NC_000020.11:18486157:ATATATATATAT:ATATATAT,NC_000020.11:18486157:ATATATATATAT:ATATATATAT,NC_000020.11:18486157:ATATATATATAT:ATATATATATATAT
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATAT=0./0 (ALFA)
-=0.00873/136 (TOMMO)
HGVS:: NC_000020.11:g.18486158AT[1], NC_000020.11:g.18486158AT[4], NC_000020.11:g.18486158AT[5], NC_000020.11:g.18486158AT[7], NC_000020.10:g.18466802AT[1], NC_000020.10:g.18466802AT[4], NC_000020.10:g.18466802AT[5], NC_000020.10:g.18466802AT[7], NG_000976.4:g.1034AT[6], NG_000976.4:g.1034AT[1], NG_000976.4:g.1034AT[4], NG_000976.4:g.1034AT[7]

Select item 14912287117.

rs1491228711 has merged into rs761100101 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATATATATATATATATATATATATATATATATATATATAT>-,ATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 20:18486194 (GRCh38)
20:18466838 (GRCh37)
Canonical SPDI:: NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000020.11:18486179:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATATATATAT=0./0 (ALFA)
ATATATATATATATATATATATATATATATATATATATATATATAT=0./0 (GENOME_DK)
-=0.01225/5 (NorthernSweden)
HGVS:: NC_000020.11:g.18486180AT[7], NC_000020.11:g.18486180AT[15], NC_000020.11:g.18486180AT[17], NC_000020.11:g.18486180AT[18], NC_000020.11:g.18486180AT[21], NC_000020.11:g.18486180AT[22], NC_000020.11:g.18486180AT[23], NC_000020.11:g.18486180AT[24], NC_000020.11:g.18486180AT[25], NC_000020.11:g.18486180AT[26], NC_000020.11:g.18486180AT[27], NC_000020.11:g.18486180AT[28], NC_000020.11:g.18486180AT[29], NC_000020.11:g.18486180AT[36], NC_000020.10:g.18466824AT[7], NC_000020.10:g.18466824AT[15], NC_000020.10:g.18466824AT[17], NC_000020.10:g.18466824AT[18], NC_000020.10:g.18466824AT[21], NC_000020.10:g.18466824AT[22], NC_000020.10:g.18466824AT[23], NC_000020.10:g.18466824AT[24], NC_000020.10:g.18466824AT[25], NC_000020.10:g.18466824AT[26], NC_000020.10:g.18466824AT[27], NC_000020.10:g.18466824AT[28], NC_000020.10:g.18466824AT[29], NC_000020.10:g.18466824AT[36]

Select item 14911951888.

rs1491195188 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAT,CTCTAT [Show Flanks]
Chromosome:: 20:18486180 (GRCh38)
20:18466825 (GRCh37)
Canonical SPDI:: NC_000020.11:18486180:TAT:TATCTAT,NC_000020.11:18486180:TAT:TATCTCTAT
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TATCTCTAT=0./0 (ALFA)
HGVS:: NC_000020.11:g.18486183_18486184insCTAT, NC_000020.11:g.18486183_18486184insCTCTAT, NC_000020.10:g.18466827_18466828insCTAT, NC_000020.10:g.18466827_18466828insCTCTAT

Select item 14911780149.

rs1491178014 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 20:18486150 (GRCh38)
20:18466795 (GRCh37)
Canonical SPDI:: NC_000020.11:18486150::T
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.0003/2 (GnomAD)
HGVS:: NC_000020.11:g.18486150_18486151insT, NC_000020.10:g.18466794_18466795insT, NG_000976.4:g.1026_1027insT

Select item 149115928410.

rs1491159284 has merged into rs1158965541 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA [Show Flanks]
Chromosome:: 20:18486137 (GRCh38)
20:18466781 (GRCh37)
Canonical SPDI:: NC_000020.11:18486135:AAAAA:A,NC_000020.11:18486135:AAAAA:AA,NC_000020.11:18486135:AAAAA:AAA,NC_000020.11:18486135:AAAAA:AAAA
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.18486137_18486140del, NC_000020.11:g.18486138_18486140del, NC_000020.11:g.18486139_18486140del, NC_000020.11:g.18486140del, NC_000020.10:g.18466781_18466784del, NC_000020.10:g.18466782_18466784del, NC_000020.10:g.18466783_18466784del, NC_000020.10:g.18466784del, NG_000976.4:g.1013_1016del, NG_000976.4:g.1014_1016del, NG_000976.4:g.1015_1016del, NG_000976.4:g.1016del

Select item 149108772511.

rs1491087725 has merged into rs11476688 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 20:18495657 (GRCh38)
20:18476301 (GRCh37)
Canonical SPDI:: NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:18495644:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.0424/24 (NorthernSweden)
A=0.3/12 (GENOME_DK)
-=0.46386/2323 (1000Genomes)
HGVS:: NC_000020.11:g.18495657_18495662del, NC_000020.11:g.18495659_18495662del, NC_000020.11:g.18495660_18495662del, NC_000020.11:g.18495661_18495662del, NC_000020.11:g.18495662del, NC_000020.11:g.18495662dup, NC_000020.11:g.18495661_18495662dup, NC_000020.11:g.18495659_18495662dup, NC_000020.10:g.18476301_18476306del, NC_000020.10:g.18476303_18476306del, NC_000020.10:g.18476304_18476306del, NC_000020.10:g.18476305_18476306del, NC_000020.10:g.18476306del, NC_000020.10:g.18476306dup, NC_000020.10:g.18476305_18476306dup, NC_000020.10:g.18476303_18476306dup

Select item 149085510312.

rs1490855103 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:18486061 (GRCh38)
20:18466705 (GRCh37)
Canonical SPDI:: NC_000020.11:18486060:A:G
Gene:: RBBP9 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000020.11:g.18486061A>G, NC_000020.10:g.18466705A>G, NG_000976.4:g.937A>G

Select item 149069219813.

rs1490692198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:18487866 (GRCh38)
20:18468510 (GRCh37)
Canonical SPDI:: NC_000020.11:18487865:C:G
Gene:: RBBP9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.18487866C>G, NC_000020.10:g.18468510C>G, NM_006606.3:c.*1898G>C, NM_006606.2:c.*1898G>C

Select item 149067459414.

rs1490674594 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:18491410 (GRCh38)
20:18472054 (GRCh37)
Canonical SPDI:: NC_000020.11:18491409:A:C
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.18491410A>C, NC_000020.10:g.18472054A>C

Select item 149055240215.

rs1490552402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:18494513 (GRCh38)
20:18475157 (GRCh37)
Canonical SPDI:: NC_000020.11:18494512:G:A,NC_000020.11:18494512:G:C
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000684/2 (KOREAN)
HGVS:: NC_000020.11:g.18494513G>A, NC_000020.11:g.18494513G>C, NC_000020.10:g.18475157G>A, NC_000020.10:g.18475157G>C

Select item 149052711616.

rs1490527116 [Homo sapiens]

Variant type:: DELINS
Alleles:: GACA>- [Show Flanks]
Chromosome:: 20:18488797 (GRCh38)
20:18469441 (GRCh37)
Canonical SPDI:: NC_000020.11:18488793:ACAGACA:ACA
Gene:: RBBP9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.18488797_18488800del, NC_000020.10:g.18469441_18469444del, NM_006606.3:c.*967_*970del, NM_006606.2:c.*967_*970del, NM_153328.1:c.*967_*970del

Select item 149050198317.

rs1490501983 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 20:18495273 (GRCh38)
20:18475917 (GRCh37)
Canonical SPDI:: NC_000020.11:18495272:G:
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.18495273del, NC_000020.10:g.18475917del

Select item 149000995318.

rs1490009953 [Homo sapiens]

Variant type:: DEL
Alleles:: GATCAATAAATA>- [Show Flanks]
Chromosome:: 20:18495578 (GRCh38)
20:18476222 (GRCh37)
Canonical SPDI:: NC_000020.11:18495577:GATCAATAAATA:
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000020.11:g.18495578_18495589del, NC_000020.10:g.18476222_18476233del

Select item 148954158119.

rs1489541581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:18493931 (GRCh38)
20:18474575 (GRCh37)
Canonical SPDI:: NC_000020.11:18493930:G:A
Gene:: RBBP9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.18493931G>A, NC_000020.10:g.18474575G>A

Select item 148947690520.

rs1489476905 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:18499136 (GRCh38)
20:18479780 (GRCh37)
Canonical SPDI:: NC_000020.11:18499135:T:G
Gene:: RBBP9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.18499136T>G, NC_000020.10:g.18479780T>G

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