SNP Links for Gene (Select 100862704) - SNP

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Select item 14913178691.

rs1491317869 has merged into rs57058513 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 13:48300986 (GRCh38)
13:48875122 (GRCh37)
Canonical SPDI:: NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000013.11:48300966:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000013.11:g.48300968GT[9], NC_000013.11:g.48300968GT[10], NC_000013.11:g.48300968GT[11], NC_000013.11:g.48300968GT[12], NC_000013.11:g.48300968GT[13], NC_000013.11:g.48300968GT[14], NC_000013.11:g.48300968GT[15], NC_000013.11:g.48300968GT[16], NC_000013.11:g.48300968GT[17], NC_000013.11:g.48300968GT[19], NC_000013.11:g.48300968GT[20], NC_000013.11:g.48300968GT[21], NC_000013.11:g.48300968GT[22], NC_000013.11:g.48300968GT[23], NC_000013.11:g.48300968GT[24], NC_000013.11:g.48300968GT[25], NC_000013.10:g.48875104GT[9], NC_000013.10:g.48875104GT[10], NC_000013.10:g.48875104GT[11], NC_000013.10:g.48875104GT[12], NC_000013.10:g.48875104GT[13], NC_000013.10:g.48875104GT[14], NC_000013.10:g.48875104GT[15], NC_000013.10:g.48875104GT[16], NC_000013.10:g.48875104GT[17], NC_000013.10:g.48875104GT[19], NC_000013.10:g.48875104GT[20], NC_000013.10:g.48875104GT[21], NC_000013.10:g.48875104GT[22], NC_000013.10:g.48875104GT[23], NC_000013.10:g.48875104GT[24], NC_000013.10:g.48875104GT[25], NG_009009.1:g.2222GT[9], NG_009009.1:g.2222GT[10], NG_009009.1:g.2222GT[11], NG_009009.1:g.2222GT[12], NG_009009.1:g.2222GT[13], NG_009009.1:g.2222GT[14], NG_009009.1:g.2222GT[15], NG_009009.1:g.2222GT[16], NG_009009.1:g.2222GT[17], NG_009009.1:g.2222GT[19], NG_009009.1:g.2222GT[20], NG_009009.1:g.2222GT[21], NG_009009.1:g.2222GT[22], NG_009009.1:g.2222GT[23], NG_009009.1:g.2222GT[24], NG_009009.1:g.2222GT[25]

Select item 14911673632.

rs1491167363 has merged into rs370468486 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 13:48300341 (GRCh38)
13:48874477 (GRCh37)
Canonical SPDI:: NC_000013.11:48300336:TTTTTT:TTTT,NC_000013.11:48300336:TTTTTT:TTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:48300336:TTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTT=0.00875/147 (TOMMO)
HGVS:: NC_000013.11:g.48300341_48300342del, NC_000013.11:g.48300342del, NC_000013.11:g.48300341_48300342dup, NC_000013.11:g.48300339_48300342dup, NC_000013.11:g.48300338_48300342dup, NC_000013.11:g.48300337_48300342dup, NC_000013.11:g.48300342_48300343insTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.11:g.48300342_48300343insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874477_48874478del, NC_000013.10:g.48874478del, NC_000013.10:g.48874477_48874478dup, NC_000013.10:g.48874475_48874478dup, NC_000013.10:g.48874474_48874478dup, NC_000013.10:g.48874473_48874478dup, NC_000013.10:g.48874478_48874479insTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.48874478_48874479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1595_1596del, NG_009009.1:g.1596del, NG_009009.1:g.1595_1596dup, NG_009009.1:g.1593_1596dup, NG_009009.1:g.1592_1596dup, NG_009009.1:g.1591_1596dup, NG_009009.1:g.1596_1597insTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009009.1:g.1596_1597insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14909900423.

rs1490990042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:48304905 (GRCh38)
13:48879041 (GRCh37)
Canonical SPDI:: NC_000013.11:48304904:A:G
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48304905A>G, NC_000013.10:g.48879041A>G, NG_009009.1:g.6159A>G

Select item 14905705024.

rs1490570502 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 13:48297024 (GRCh38)
13:48871160 (GRCh37)
Canonical SPDI:: NC_000013.11:48297023:TT:
Gene:: RB1-DT (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48297024_48297025del, NC_000013.10:g.48871160_48871161del, NR_046414.2:n.672_673del, NR_046414.1:n.631_632del

Select item 14903723825.

rs1490372382 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:48299096 (GRCh38)
13:48873232 (GRCh37)
Canonical SPDI:: NC_000013.11:48299095:C:G,NC_000013.11:48299095:C:T
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48299096C>G, NC_000013.11:g.48299096C>T, NC_000013.10:g.48873232C>G, NC_000013.10:g.48873232C>T, NG_009009.1:g.350C>G, NG_009009.1:g.350C>T

Select item 14898820056.

rs1489882005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:48298452 (GRCh38)
13:48872588 (GRCh37)
Canonical SPDI:: NC_000013.11:48298451:G:C
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000013.11:g.48298452G>C, NC_000013.10:g.48872588G>C

Select item 14898103237.

rs1489810323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:48303697 (GRCh38)
13:48877833 (GRCh37)
Canonical SPDI:: NC_000013.11:48303696:G:A
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000013.11:g.48303697G>A, NC_000013.10:g.48877833G>A, NG_009009.1:g.4951G>A, NR_046414.2:n.6C>T

Select item 14896942288.

rs1489694228 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 13:48304063 (GRCh38)
13:48878199 (GRCh37)
Canonical SPDI:: NC_000013.11:48304062:G:A,NC_000013.11:48304062:G:C,NC_000013.11:48304062:G:T
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.48304063G>A, NC_000013.11:g.48304063G>C, NC_000013.11:g.48304063G>T, NC_000013.10:g.48878199G>A, NC_000013.10:g.48878199G>C, NC_000013.10:g.48878199G>T, NG_009009.1:g.5317G>A, NG_009009.1:g.5317G>C, NG_009009.1:g.5317G>T

Select item 14895901899.

rs1489590189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:48299904 (GRCh38)
13:48874040 (GRCh37)
Canonical SPDI:: NC_000013.11:48299903:G:C
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000013.11:g.48299904G>C, NC_000013.10:g.48874040G>C, NG_009009.1:g.1158G>C

Select item 148924785410.

rs1489247854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48303773 (GRCh38)
13:48877909 (GRCh37)
Canonical SPDI:: NC_000013.11:48303772:C:T
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.48303773C>T, NC_000013.10:g.48877909C>T, NG_009009.1:g.5027C>T, NM_000321.3:c.-140C>T, NM_000321.2:c.-140C>T, NM_001407166.1:c.-140C>T, NM_001407165.1:c.-140C>T, NM_001407167.1:c.-140C>T

Select item 148905228311.

rs1489052283 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATGTGTGTGTGTGTGTGTGTGT>- [Show Flanks]
Chromosome:: 13:48300966 (GRCh38)
13:48875102 (GRCh37)
Canonical SPDI:: NC_000013.11:48300958:TGTGTGTATGTGTGTGTGTGTGTGTGTGT:TGTGTGT
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0.00008/1 (ALFA)
-=0.00037/15 (GnomAD)
HGVS:: NC_000013.11:g.48300966_48300987del, NC_000013.10:g.48875102_48875123del, NG_009009.1:g.2220_2241del

Select item 148894911712.

rs1488949117 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:48303691 (GRCh38)
13:48877827 (GRCh37)
Canonical SPDI:: NC_000013.11:48303690:C:A
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.48303691C>A, NC_000013.10:g.48877827C>A, NG_009009.1:g.4945C>A, NR_046414.2:n.12G>T

Select item 148881610513.

rs1488816105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 13:48303436 (GRCh38)
13:48877572 (GRCh37)
Canonical SPDI:: NC_000013.11:48303435:A:G,NC_000013.11:48303435:A:T
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48303436A>G, NC_000013.11:g.48303436A>T, NC_000013.10:g.48877572A>G, NC_000013.10:g.48877572A>T, NG_009009.1:g.4690A>G, NG_009009.1:g.4690A>T, NR_046414.2:n.267T>C, NR_046414.2:n.267T>A, NR_046414.1:n.226T>C, NR_046414.1:n.226T>A

Select item 148880032914.

rs1488800329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:48297780 (GRCh38)
13:48871916 (GRCh37)
Canonical SPDI:: NC_000013.11:48297779:G:T
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.48297780G>T, NC_000013.10:g.48871916G>T

Select item 148865461815.

rs1488654618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:48302238 (GRCh38)
13:48876374 (GRCh37)
Canonical SPDI:: NC_000013.11:48302237:C:G
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000013.11:g.48302238C>G, NC_000013.10:g.48876374C>G, NG_009009.1:g.3492C>G

Select item 148805947516.

rs1488059475 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 13:48301856 (GRCh38)
13:48875992 (GRCh37)
Canonical SPDI:: NC_000013.11:48301854:AGA:A
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00033/5 (ALFA)
-=0.00005/7 (GnomAD)
-=0.001339/6 (Estonian)
HGVS:: NC_000013.11:g.48301856_48301857del, NC_000013.10:g.48875992_48875993del, NG_009009.1:g.3110_3111del

Select item 148714923417.

rs1487149234 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:48304073 (GRCh38)
13:48878209 (GRCh37)
Canonical SPDI:: NC_000013.11:48304072:C:T
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.48304073C>T, NC_000013.10:g.48878209C>T, NG_009009.1:g.5327C>T

Select item 148696129818.

rs1486961298 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 13:48298604 (GRCh38)
13:48872740 (GRCh37)
Canonical SPDI:: NC_000013.11:48298603:AA:A
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000013.11:g.48298605del, NC_000013.10:g.48872741del

Select item 148675530119.

rs1486755301 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:48297272 (GRCh38)
13:48871408 (GRCh37)
Canonical SPDI:: NC_000013.11:48297271:G:A
Gene:: RB1-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.48297272G>A, NC_000013.10:g.48871408G>A

Select item 148654863720.

rs1486548637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:48304204 (GRCh38)
13:48878340 (GRCh37)
Canonical SPDI:: NC_000013.11:48304203:T:G
Gene:: RB1 (Varview), RB1-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.48304204T>G, NC_000013.10:g.48878340T>G, NG_009009.1:g.5458T>G

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