SNP Links for Nucleotide (Select 1066587060) - SNP

Links from Nucleotide

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Select item 14915755911.

rs1491575591 has merged into rs68049196 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:31514246 (GRCh38)
5:31514353 (GRCh37)
Canonical SPDI:: NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:31514228:ACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACA=0./0 (ALFA)
-=0.0664/256 (ALSPAC)
HGVS:: NC_000005.10:g.31514230CA[8], NC_000005.10:g.31514230CA[9], NC_000005.10:g.31514230CA[10], NC_000005.10:g.31514230CA[11], NC_000005.10:g.31514230CA[12], NC_000005.10:g.31514230CA[13], NC_000005.10:g.31514230CA[14], NC_000005.10:g.31514230CA[15], NC_000005.10:g.31514230CA[17], NC_000005.10:g.31514230CA[18], NC_000005.10:g.31514230CA[19], NC_000005.10:g.31514230CA[21], NC_000005.9:g.31514337CA[8], NC_000005.9:g.31514337CA[9], NC_000005.9:g.31514337CA[10], NC_000005.9:g.31514337CA[11], NC_000005.9:g.31514337CA[12], NC_000005.9:g.31514337CA[13], NC_000005.9:g.31514337CA[14], NC_000005.9:g.31514337CA[15], NC_000005.9:g.31514337CA[17], NC_000005.9:g.31514337CA[18], NC_000005.9:g.31514337CA[19], NC_000005.9:g.31514337CA[21], NG_051574.1:g.22916GT[8], NG_051574.1:g.22916GT[9], NG_051574.1:g.22916GT[10], NG_051574.1:g.22916GT[11], NG_051574.1:g.22916GT[12], NG_051574.1:g.22916GT[13], NG_051574.1:g.22916GT[14], NG_051574.1:g.22916GT[15], NG_051574.1:g.22916GT[17], NG_051574.1:g.22916GT[18], NG_051574.1:g.22916GT[19], NG_051574.1:g.22916GT[21]

Select item 14915621782.

rs1491562178 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAC [Show Flanks]
Chromosome:: 5:31511921 (GRCh38)
5:31512029 (GRCh37)
Canonical SPDI:: NC_000005.10:31511921:C:CTCAC
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCAC=0./0 (ALFA)
CTCA=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.31511922_31511923insTCAC, NC_000005.9:g.31512029_31512030insTCAC, NG_051574.1:g.25254_25255insTGAG

Select item 14915145763.

rs1491514576 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:31456495 (GRCh38)
5:31456602 (GRCh37)
Canonical SPDI:: NC_000005.10:31456493:AGA:A
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000022/3 (GnomAD)
HGVS:: NC_000005.10:g.31456495_31456496del, NC_000005.9:g.31456602_31456603del, NG_051574.1:g.80681_80682del

Select item 14915139004.

rs1491513900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 5:31535023 (GRCh38)
5:31535131 (GRCh37)
Canonical SPDI:: NC_000005.10:31535023:T:TT
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.31535024dup, NC_000005.9:g.31535131dup, NG_051574.1:g.2152dup, XM_011514062.4:c.293dup, XM_011514062.3:c.293dup, XM_011514062.2:c.293dup, XM_011514062.1:c.293dup, XM_017009607.2:c.293dup, XM_017009607.1:c.293dup, XP_011512364.1:p.Tyr99fs, XP_016865096.1:p.Tyr99fs

Select item 14915089815.

rs1491508981 has merged into rs796638309 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 5:31462835 (GRCh38)
5:31462942 (GRCh37)
Canonical SPDI:: NC_000005.10:31462834:AAAAAAAAA:AAAAAAAA,NC_000005.10:31462834:AAAAAAAAA:AAAAAAAAAA
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000865/229 (TOPMED)
HGVS:: NC_000005.10:g.31462843del, NC_000005.10:g.31462843dup, NC_000005.9:g.31462950del, NC_000005.9:g.31462950dup, NG_051574.1:g.74341del, NG_051574.1:g.74341dup

Select item 14915044406.

rs1491504440 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:31484505 (GRCh38)
5:31484612 (GRCh37)
Canonical SPDI:: NC_000005.10:31484504:AT:
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000081/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.31484505_31484506del, NC_000005.9:g.31484612_31484613del, NG_051574.1:g.52670_52671del

Select item 14915034657.

rs1491503465 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:31493937 (GRCh38)
5:31494044 (GRCh37)
Canonical SPDI:: NC_000005.10:31493936:TT:
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001249/19 (ALFA)
-=0.000673/11 (TOMMO)
-=0.002334/274 (GnomAD)
HGVS:: NC_000005.10:g.31493937_31493938del, NC_000005.9:g.31494044_31494045del, NG_051574.1:g.43238_43239del

Select item 14914863378.

rs1491486337 has merged into rs10718385 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:31523985 (GRCh38)
5:31524092 (GRCh37)
Canonical SPDI:: NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31523976:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.000004/1 (TOPMED)
A=0.49381/2473 (1000Genomes)
HGVS:: NC_000005.10:g.31523985_31523995del, NC_000005.10:g.31523989_31523995del, NC_000005.10:g.31523991_31523995del, NC_000005.10:g.31523992_31523995del, NC_000005.10:g.31523993_31523995del, NC_000005.10:g.31523994_31523995del, NC_000005.10:g.31523995del, NC_000005.10:g.31523995dup, NC_000005.10:g.31523994_31523995dup, NC_000005.10:g.31523993_31523995dup, NC_000005.10:g.31523991_31523995dup, NC_000005.10:g.31523982_31523995dup, NC_000005.9:g.31524092_31524102del, NC_000005.9:g.31524096_31524102del, NC_000005.9:g.31524098_31524102del, NC_000005.9:g.31524099_31524102del, NC_000005.9:g.31524100_31524102del, NC_000005.9:g.31524101_31524102del, NC_000005.9:g.31524102del, NC_000005.9:g.31524102dup, NC_000005.9:g.31524101_31524102dup, NC_000005.9:g.31524100_31524102dup, NC_000005.9:g.31524098_31524102dup, NC_000005.9:g.31524089_31524102dup, NG_051574.1:g.13189_13199del, NG_051574.1:g.13193_13199del, NG_051574.1:g.13195_13199del, NG_051574.1:g.13196_13199del, NG_051574.1:g.13197_13199del, NG_051574.1:g.13198_13199del, NG_051574.1:g.13199del, NG_051574.1:g.13199dup, NG_051574.1:g.13198_13199dup, NG_051574.1:g.13197_13199dup, NG_051574.1:g.13195_13199dup, NG_051574.1:g.13186_13199dup

Select item 14914669349.

rs1491466934 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:31431366 (GRCh38)
5:31431473 (GRCh37)
Canonical SPDI:: NC_000005.10:31431365:CA:
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00211/25 (ALFA)
-=0.00082/12 (GnomAD)
HGVS:: NC_000005.10:g.31431366_31431367del, NC_000005.9:g.31431473_31431474del, NG_051574.1:g.105809_105810del

Select item 149143886810.

rs1491438868 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:31455642 (GRCh38)
5:31455750 (GRCh37)
Canonical SPDI:: NC_000005.10:31455642::C
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000005.10:g.31455642_31455643insC, NC_000005.9:g.31455749_31455750insC, NG_051574.1:g.81533_81534insG

Select item 149142094911.

rs1491420949 has merged into rs988007658 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 5:31467291 (GRCh38)
5:31467398 (GRCh37)
Canonical SPDI:: NC_000005.10:31467290:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:31467290:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:31467290:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:31467290:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.31467306del, NC_000005.10:g.31467306dup, NC_000005.10:g.31467305_31467306dup, NC_000005.10:g.31467303_31467306dup, NC_000005.9:g.31467413del, NC_000005.9:g.31467413dup, NC_000005.9:g.31467412_31467413dup, NC_000005.9:g.31467410_31467413dup, NG_051574.1:g.69885del, NG_051574.1:g.69885dup, NG_051574.1:g.69884_69885dup, NG_051574.1:g.69882_69885dup

Select item 149139017412.

rs1491390174 has merged into rs70955715 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:31529746 (GRCh38)
5:31529853 (GRCh37)
Canonical SPDI:: NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:31529734:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1861/932 (1000Genomes)
HGVS:: NC_000005.10:g.31529746_31529747del, NC_000005.10:g.31529747del, NC_000005.10:g.31529747dup, NC_000005.10:g.31529746_31529747dup, NC_000005.10:g.31529745_31529747dup, NC_000005.10:g.31529744_31529747dup, NC_000005.10:g.31529743_31529747dup, NC_000005.10:g.31529742_31529747dup, NC_000005.10:g.31529741_31529747dup, NC_000005.10:g.31529740_31529747dup, NC_000005.10:g.31529737_31529747dup, NC_000005.10:g.31529736_31529747dup, NC_000005.10:g.31529735_31529747dup, NC_000005.10:g.31529747_31529748insAAAAAAAAAAAAAA, NC_000005.10:g.31529747_31529748insAAAAAAAAAAAAAAA, NC_000005.10:g.31529747_31529748insAAAAAAAAAAAAAAAA, NC_000005.10:g.31529747_31529748insAAAAAAAAAAAAAAAAA, NC_000005.10:g.31529747_31529748insAAAAAAAAAAAAAAAAAA, NC_000005.9:g.31529853_31529854del, NC_000005.9:g.31529854del, NC_000005.9:g.31529854dup, NC_000005.9:g.31529853_31529854dup, NC_000005.9:g.31529852_31529854dup, NC_000005.9:g.31529851_31529854dup, NC_000005.9:g.31529850_31529854dup, NC_000005.9:g.31529849_31529854dup, NC_000005.9:g.31529848_31529854dup, NC_000005.9:g.31529847_31529854dup, NC_000005.9:g.31529844_31529854dup, NC_000005.9:g.31529843_31529854dup, NC_000005.9:g.31529842_31529854dup, NC_000005.9:g.31529854_31529855insAAAAAAAAAAAAAA, NC_000005.9:g.31529854_31529855insAAAAAAAAAAAAAAA, NC_000005.9:g.31529854_31529855insAAAAAAAAAAAAAAAA, NC_000005.9:g.31529854_31529855insAAAAAAAAAAAAAAAAA, NC_000005.9:g.31529854_31529855insAAAAAAAAAAAAAAAAAA, NG_051574.1:g.7440_7441del, NG_051574.1:g.7441del, NG_051574.1:g.7441dup, NG_051574.1:g.7440_7441dup, NG_051574.1:g.7439_7441dup, NG_051574.1:g.7438_7441dup, NG_051574.1:g.7437_7441dup, NG_051574.1:g.7436_7441dup, NG_051574.1:g.7435_7441dup, NG_051574.1:g.7434_7441dup, NG_051574.1:g.7431_7441dup, NG_051574.1:g.7430_7441dup, NG_051574.1:g.7429_7441dup, NG_051574.1:g.7441_7442insTTTTTTTTTTTTTT, NG_051574.1:g.7441_7442insTTTTTTTTTTTTTTT, NG_051574.1:g.7441_7442insTTTTTTTTTTTTTTTT, NG_051574.1:g.7441_7442insTTTTTTTTTTTTTTTTT, NG_051574.1:g.7441_7442insTTTTTTTTTTTTTTTTTT

Select item 149138988413.

rs1491389884 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:31535027 (GRCh38)
5:31535134 (GRCh37)
Canonical SPDI:: NC_000005.10:31535022:ATATAT:ATAT
Gene:: C5orf22 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.31535023AT[2], NC_000005.9:g.31535130AT[2], NG_051574.1:g.2148AT[2], XM_011514062.4:c.296_297del, XM_011514062.3:c.296_297del, XM_011514062.2:c.296_297del, XM_011514062.1:c.296_297del, XM_017009607.2:c.296_297del, XM_017009607.1:c.296_297del, XP_011512364.1:p.Ile98_Tyr99insTer, XP_016865096.1:p.Ile98_Tyr99insTer

Select item 149136816314.

rs1491368163 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:31446446 (GRCh38)
5:31446553 (GRCh37)
Canonical SPDI:: NC_000005.10:31446445:CA:
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000005.10:g.31446446_31446447del, NC_000005.9:g.31446553_31446554del, NG_051574.1:g.90729_90730del

Select item 149135455315.

rs1491354553 has merged into rs35756228 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:31456475 (GRCh38)
5:31456582 (GRCh37)
Canonical SPDI:: NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:31456463:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000005.10:g.31456465CA[5], NC_000005.10:g.31456465CA[7], NC_000005.10:g.31456465CA[8], NC_000005.10:g.31456465CA[9], NC_000005.10:g.31456465CA[10], NC_000005.10:g.31456465CA[11], NC_000005.10:g.31456465CA[12], NC_000005.10:g.31456465CA[13], NC_000005.10:g.31456465CA[14], NC_000005.10:g.31456465CA[16], NC_000005.10:g.31456465CA[17], NC_000005.10:g.31456465CA[18], NC_000005.10:g.31456465CA[19], NC_000005.10:g.31456465CA[20], NC_000005.10:g.31456465CA[21], NC_000005.10:g.31456465CA[24], NC_000005.9:g.31456572CA[5], NC_000005.9:g.31456572CA[7], NC_000005.9:g.31456572CA[8], NC_000005.9:g.31456572CA[9], NC_000005.9:g.31456572CA[10], NC_000005.9:g.31456572CA[11], NC_000005.9:g.31456572CA[12], NC_000005.9:g.31456572CA[13], NC_000005.9:g.31456572CA[14], NC_000005.9:g.31456572CA[16], NC_000005.9:g.31456572CA[17], NC_000005.9:g.31456572CA[18], NC_000005.9:g.31456572CA[19], NC_000005.9:g.31456572CA[20], NC_000005.9:g.31456572CA[21], NC_000005.9:g.31456572CA[24], NG_051574.1:g.80683GT[5], NG_051574.1:g.80683GT[7], NG_051574.1:g.80683GT[8], NG_051574.1:g.80683GT[9], NG_051574.1:g.80683GT[10], NG_051574.1:g.80683GT[11], NG_051574.1:g.80683GT[12], NG_051574.1:g.80683GT[13], NG_051574.1:g.80683GT[14], NG_051574.1:g.80683GT[16], NG_051574.1:g.80683GT[17], NG_051574.1:g.80683GT[18], NG_051574.1:g.80683GT[19], NG_051574.1:g.80683GT[20], NG_051574.1:g.80683GT[21], NG_051574.1:g.80683GT[24]

Select item 149133351516.

rs1491333515 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:31399381 (GRCh38)
5:31399488 (GRCh37)
Canonical SPDI:: NC_000005.10:31399380:AT:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00037/6 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00055/1 (Korea1K)
-=0.03574/179 (1000Genomes)
-=0.11306/5444 (GnomAD)
HGVS:: NC_000005.10:g.31399381_31399382del, NC_000005.9:g.31399488_31399489del, NG_051574.1:g.137794_137795del

Select item 149133218417.

rs1491332184 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:31454939 (GRCh38)
5:31455046 (GRCh37)
Canonical SPDI:: NC_000005.10:31454938:CA:
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01694/201 (ALFA)
-=0.00416/115 (TOMMO)
HGVS:: NC_000005.10:g.31454939_31454940del, NC_000005.9:g.31455046_31455047del, NG_051574.1:g.82236_82237del

Select item 149128434518.

rs1491284345 [Homo sapiens]

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

Select item 149126150719.

rs1491261507 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 5:31399413 (GRCh38)
5:31399520 (GRCh37)
Canonical SPDI:: NC_000005.10:31399411:TTT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.006238/74 (ALFA)
-=0.001026/17 (TOMMO)
-=0.004367/8 (Korea1K)
-=0.00672/806 (GnomAD)
HGVS:: NC_000005.10:g.31399413_31399414del, NC_000005.9:g.31399520_31399521del, NG_051574.1:g.137763_137764del

Select item 149122479220.

rs1491224792 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:31510050 (GRCh38)
5:31510158 (GRCh37)
Canonical SPDI:: NC_000005.10:31510050:G:GG
Gene:: DROSHA (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00005/1 (GnomAD)
HGVS:: NC_000005.10:g.31510051dup, NC_000005.9:g.31510158dup, NG_051574.1:g.27125dup

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