SNP Links for Nucleotide (Select 343098474) - SNP

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Select item 14915773961.

rs1491577396 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATCTTTTTTTT [Show Flanks]
Chromosome:: 10:77992263 (GRCh38)
10:79752022 (GRCh37)
Canonical SPDI:: NC_000010.11:77992263:TTTTTTTTCATCTTTTTTTT:TTTTTTTTCATCTTTTTTTTCATCTTTTTTTT
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTTTTCATC=0.000009/1 (GnomAD)
HGVS:: NC_000010.11:g.77992272_77992283dup, NC_000010.10:g.79752030_79752041dup, NG_029648.1:g.42266_42277dup

Select item 14914955102.

rs1491495510 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:77986147 (GRCh38)
10:79745905 (GRCh37)
Canonical SPDI:: NC_000010.11:77986146:AT:
Gene:: POLR3A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
HGVS:: NC_000010.11:g.77986147_77986148del, NC_000010.10:g.79745905_79745906del, NG_029648.1:g.48393_48394del, NM_007055.4:c.2913_2914del, NM_007055.3:c.2913_2914del, NP_008986.2:p.Lys971fs

Select item 14914773693.

rs1491477369 has merged into rs67659884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 10:77992270 (GRCh38)
10:79752028 (GRCh37)
Canonical SPDI:: NC_000010.11:77992262:TTTTTTTTT:TTTTTTT,NC_000010.11:77992262:TTTTTTTTT:TTTTTTTT,NC_000010.11:77992262:TTTTTTTTT:TTTTTTTTTT
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.021305/79 (TWINSUK)
-=0.024909/96 (ALSPAC)
-=0.025/1 (GENOME_DK)
-=0.02505/25 (GoNL)
-=0.033333/20 (NorthernSweden)
-=0.115735/30634 (TOPMED)
-=0.182907/916 (1000Genomes)
-=0.198245/3323 (TOMMO)
HGVS:: NC_000010.11:g.77992270_77992271del, NC_000010.11:g.77992271del, NC_000010.11:g.77992271dup, NC_000010.10:g.79752028_79752029del, NC_000010.10:g.79752029del, NC_000010.10:g.79752029dup, NG_029648.1:g.42277_42278del, NG_029648.1:g.42278del, NG_029648.1:g.42278dup

Select item 14914714424.

rs1491471442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:77974129 (GRCh38)
10:79733888 (GRCh37)
Canonical SPDI:: NC_000010.11:77974129:C:CC
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000051/6 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000010.11:g.77974130dup, NC_000010.10:g.79733888dup, NG_029648.1:g.60411dup

Select item 14914562925.

rs1491456292 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:78030447 (GRCh38)
10:79790206 (GRCh37)
Canonical SPDI:: NC_000010.11:78030447:A:AA
Gene:: POLR3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.78030448dup, NC_000010.10:g.79790206dup, NG_029648.1:g.4093dup, NG_012633.1:g.1689dup

Select item 14914386296.

rs1491438629 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:77974130 (GRCh38)
10:79733888 (GRCh37)
Canonical SPDI:: NC_000010.11:77974128:TCT:T
Validated:: by frequency,by alfa
MAF:: T=0.00025/3 (ALFA)
HGVS:: NC_000010.11:g.77974130_77974131del, NC_000010.10:g.79733888_79733889del, NG_029648.1:g.60411_60412del

Select item 14914382437.

rs1491438243 has merged into rs1157794526 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA [Show Flanks]
Chromosome:: 10:78031565 (GRCh38)
10:79791323 (GRCh37)
Canonical SPDI:: NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000010.11:78031547:ATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.78031549TA[8], NC_000010.11:g.78031549TA[9], NC_000010.11:g.78031549TA[11], NC_000010.11:g.78031549TA[12], NC_000010.11:g.78031549TA[13], NC_000010.11:g.78031549TA[14], NC_000010.11:g.78031549TA[15], NC_000010.11:g.78031549TA[16], NC_000010.11:g.78031549TA[17], NC_000010.10:g.79791307TA[8], NC_000010.10:g.79791307TA[9], NC_000010.10:g.79791307TA[11], NC_000010.10:g.79791307TA[12], NC_000010.10:g.79791307TA[13], NC_000010.10:g.79791307TA[14], NC_000010.10:g.79791307TA[15], NC_000010.10:g.79791307TA[16], NC_000010.10:g.79791307TA[17], NG_029648.1:g.2974AT[8], NG_029648.1:g.2974AT[9], NG_029648.1:g.2974AT[11], NG_029648.1:g.2974AT[12], NG_029648.1:g.2974AT[13], NG_029648.1:g.2974AT[14], NG_029648.1:g.2974AT[15], NG_029648.1:g.2974AT[16], NG_029648.1:g.2974AT[17], NG_012633.1:g.2790TA[8], NG_012633.1:g.2790TA[9], NG_012633.1:g.2790TA[11], NG_012633.1:g.2790TA[12], NG_012633.1:g.2790TA[13], NG_012633.1:g.2790TA[14], NG_012633.1:g.2790TA[15], NG_012633.1:g.2790TA[16], NG_012633.1:g.2790TA[17]

Select item 14914087578.

rs1491408757 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:78009152 (GRCh38)
10:79768910 (GRCh37)
Canonical SPDI:: NC_000010.11:78009151:CA:
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.78009152_78009153del, NC_000010.10:g.79768910_79768911del, NG_029648.1:g.25388_25389del

Select item 14913808419.

rs1491380841 has merged into rs67659884 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 10:77992270 (GRCh38)
10:79752028 (GRCh37)
Canonical SPDI:: NC_000010.11:77992262:TTTTTTTTT:TTTTTTT,NC_000010.11:77992262:TTTTTTTTT:TTTTTTTT,NC_000010.11:77992262:TTTTTTTTT:TTTTTTTTTT
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.021305/79 (TWINSUK)
-=0.024909/96 (ALSPAC)
-=0.025/1 (GENOME_DK)
-=0.02505/25 (GoNL)
-=0.033333/20 (NorthernSweden)
-=0.115735/30634 (TOPMED)
-=0.182907/916 (1000Genomes)
-=0.198245/3323 (TOMMO)
HGVS:: NC_000010.11:g.77992270_77992271del, NC_000010.11:g.77992271del, NC_000010.11:g.77992271dup, NC_000010.10:g.79752028_79752029del, NC_000010.10:g.79752029del, NC_000010.10:g.79752029dup, NG_029648.1:g.42277_42278del, NG_029648.1:g.42278del, NG_029648.1:g.42278dup

Select item 149135487010.

rs1491354870 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:77974105 (GRCh38)
10:79733864 (GRCh37)
Canonical SPDI:: NC_000010.11:77974105::C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.77974105_77974106insC, NC_000010.10:g.79733863_79733864insC, NG_029648.1:g.60435_60436insG

Select item 149132778511.

rs1491327785 has merged into rs58125117 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 10:78030453 (GRCh38)
10:79790211 (GRCh37)
Canonical SPDI:: NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000010.11:78030446:TATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: POLR3A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.78030447TA[3], NC_000010.11:g.78030447TA[4], NC_000010.11:g.78030447TA[5], NC_000010.11:g.78030447TA[6], NC_000010.11:g.78030447TA[7], NC_000010.11:g.78030447TA[8], NC_000010.11:g.78030447TA[9], NC_000010.11:g.78030447TA[10], NC_000010.11:g.78030447TA[11], NC_000010.11:g.78030447TA[12], NC_000010.11:g.78030447TA[13], NC_000010.11:g.78030447TA[14], NC_000010.11:g.78030447TA[16], NC_000010.11:g.78030447TA[17], NC_000010.11:g.78030447TA[18], NC_000010.11:g.78030447TA[19], NC_000010.11:g.78030447TA[20], NC_000010.11:g.78030447TA[21], NC_000010.11:g.78030447TA[22], NC_000010.11:g.78030447TA[23], NC_000010.11:g.78030447TA[24], NC_000010.11:g.78030447TA[25], NC_000010.11:g.78030447TA[26], NC_000010.11:g.78030447TA[27], NC_000010.11:g.78030447TA[28], NC_000010.10:g.79790205TA[3], NC_000010.10:g.79790205TA[4], NC_000010.10:g.79790205TA[5], NC_000010.10:g.79790205TA[6], NC_000010.10:g.79790205TA[7], NC_000010.10:g.79790205TA[8], NC_000010.10:g.79790205TA[9], NC_000010.10:g.79790205TA[10], NC_000010.10:g.79790205TA[11], NC_000010.10:g.79790205TA[12], NC_000010.10:g.79790205TA[13], NC_000010.10:g.79790205TA[14], NC_000010.10:g.79790205TA[16], NC_000010.10:g.79790205TA[17], NC_000010.10:g.79790205TA[18], NC_000010.10:g.79790205TA[19], NC_000010.10:g.79790205TA[20], NC_000010.10:g.79790205TA[21], NC_000010.10:g.79790205TA[22], NC_000010.10:g.79790205TA[23], NC_000010.10:g.79790205TA[24], NC_000010.10:g.79790205TA[25], NC_000010.10:g.79790205TA[26], NC_000010.10:g.79790205TA[27], NC_000010.10:g.79790205TA[28], NG_029648.1:g.4065TA[3], NG_029648.1:g.4065TA[4], NG_029648.1:g.4065TA[5], NG_029648.1:g.4065TA[6], NG_029648.1:g.4065TA[7], NG_029648.1:g.4065TA[8], NG_029648.1:g.4065TA[9], NG_029648.1:g.4065TA[10], NG_029648.1:g.4065TA[11], NG_029648.1:g.4065TA[12], NG_029648.1:g.4065TA[13], NG_029648.1:g.4065TA[14], NG_029648.1:g.4065TA[16], NG_029648.1:g.4065TA[17], NG_029648.1:g.4065TA[18], NG_029648.1:g.4065TA[19], NG_029648.1:g.4065TA[20], NG_029648.1:g.4065TA[21], NG_029648.1:g.4065TA[22], NG_029648.1:g.4065TA[23], NG_029648.1:g.4065TA[24], NG_029648.1:g.4065TA[25], NG_029648.1:g.4065TA[26], NG_029648.1:g.4065TA[27], NG_029648.1:g.4065TA[28], NG_012633.1:g.1688TA[3], NG_012633.1:g.1688TA[4], NG_012633.1:g.1688TA[5], NG_012633.1:g.1688TA[6], NG_012633.1:g.1688TA[7], NG_012633.1:g.1688TA[8], NG_012633.1:g.1688TA[9], NG_012633.1:g.1688TA[10], NG_012633.1:g.1688TA[11], NG_012633.1:g.1688TA[12], NG_012633.1:g.1688TA[13], NG_012633.1:g.1688TA[14], NG_012633.1:g.1688TA[16], NG_012633.1:g.1688TA[17], NG_012633.1:g.1688TA[18], NG_012633.1:g.1688TA[19], NG_012633.1:g.1688TA[20], NG_012633.1:g.1688TA[21], NG_012633.1:g.1688TA[22], NG_012633.1:g.1688TA[23], NG_012633.1:g.1688TA[24], NG_012633.1:g.1688TA[25], NG_012633.1:g.1688TA[26], NG_012633.1:g.1688TA[27], NG_012633.1:g.1688TA[28]

Select item 149131516212.

rs1491315162 has merged into rs1159327463 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:78030510 (GRCh38)
10:79790268 (GRCh37)
Canonical SPDI:: NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:78030499:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: POLR3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.78030510_78030521del, NC_000010.11:g.78030511_78030521del, NC_000010.11:g.78030512_78030521del, NC_000010.11:g.78030513_78030521del, NC_000010.11:g.78030514_78030521del, NC_000010.11:g.78030515_78030521del, NC_000010.11:g.78030516_78030521del, NC_000010.11:g.78030517_78030521del, NC_000010.11:g.78030518_78030521del, NC_000010.11:g.78030519_78030521del, NC_000010.11:g.78030520_78030521del, NC_000010.11:g.78030521del, NC_000010.11:g.78030521dup, NC_000010.11:g.78030520_78030521dup, NC_000010.11:g.78030519_78030521dup, NC_000010.11:g.78030518_78030521dup, NC_000010.11:g.78030517_78030521dup, NC_000010.11:g.78030516_78030521dup, NC_000010.11:g.78030513_78030521dup, NC_000010.11:g.78030510_78030521dup, NC_000010.10:g.79790268_79790279del, NC_000010.10:g.79790269_79790279del, NC_000010.10:g.79790270_79790279del, NC_000010.10:g.79790271_79790279del, NC_000010.10:g.79790272_79790279del, NC_000010.10:g.79790273_79790279del, NC_000010.10:g.79790274_79790279del, NC_000010.10:g.79790275_79790279del, NC_000010.10:g.79790276_79790279del, NC_000010.10:g.79790277_79790279del, NC_000010.10:g.79790278_79790279del, NC_000010.10:g.79790279del, NC_000010.10:g.79790279dup, NC_000010.10:g.79790278_79790279dup, NC_000010.10:g.79790277_79790279dup, NC_000010.10:g.79790276_79790279dup, NC_000010.10:g.79790275_79790279dup, NC_000010.10:g.79790274_79790279dup, NC_000010.10:g.79790271_79790279dup, NC_000010.10:g.79790268_79790279dup, NG_029648.1:g.4030_4041del, NG_029648.1:g.4031_4041del, NG_029648.1:g.4032_4041del, NG_029648.1:g.4033_4041del, NG_029648.1:g.4034_4041del, NG_029648.1:g.4035_4041del, NG_029648.1:g.4036_4041del, NG_029648.1:g.4037_4041del, NG_029648.1:g.4038_4041del, NG_029648.1:g.4039_4041del, NG_029648.1:g.4040_4041del, NG_029648.1:g.4041del, NG_029648.1:g.4041dup, NG_029648.1:g.4040_4041dup, NG_029648.1:g.4039_4041dup, NG_029648.1:g.4038_4041dup, NG_029648.1:g.4037_4041dup, NG_029648.1:g.4036_4041dup, NG_029648.1:g.4033_4041dup, NG_029648.1:g.4030_4041dup, NG_012633.1:g.1751_1762del, NG_012633.1:g.1752_1762del, NG_012633.1:g.1753_1762del, NG_012633.1:g.1754_1762del, NG_012633.1:g.1755_1762del, NG_012633.1:g.1756_1762del, NG_012633.1:g.1757_1762del, NG_012633.1:g.1758_1762del, NG_012633.1:g.1759_1762del, NG_012633.1:g.1760_1762del, NG_012633.1:g.1761_1762del, NG_012633.1:g.1762del, NG_012633.1:g.1762dup, NG_012633.1:g.1761_1762dup, NG_012633.1:g.1760_1762dup, NG_012633.1:g.1759_1762dup, NG_012633.1:g.1758_1762dup, NG_012633.1:g.1757_1762dup, NG_012633.1:g.1754_1762dup, NG_012633.1:g.1751_1762dup

Select item 149128659813.

rs1491286598 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:77992262 (GRCh38)
10:79752020 (GRCh37)
Canonical SPDI:: NC_000010.11:77992261:CT:
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.77992262_77992263del, NC_000010.10:g.79752020_79752021del, NG_029648.1:g.42278_42279del

Select item 149128234714.

rs1491282347 has merged into rs59548771 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:78024381 (GRCh38)
10:79784139 (GRCh37)
Canonical SPDI:: NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78024370:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.78024381_78024389del, NC_000010.11:g.78024383_78024389del, NC_000010.11:g.78024384_78024389del, NC_000010.11:g.78024386_78024389del, NC_000010.11:g.78024387_78024389del, NC_000010.11:g.78024388_78024389del, NC_000010.11:g.78024389del, NC_000010.11:g.78024389dup, NC_000010.11:g.78024388_78024389dup, NC_000010.11:g.78024387_78024389dup, NC_000010.11:g.78024384_78024389dup, NC_000010.10:g.79784139_79784147del, NC_000010.10:g.79784141_79784147del, NC_000010.10:g.79784142_79784147del, NC_000010.10:g.79784144_79784147del, NC_000010.10:g.79784145_79784147del, NC_000010.10:g.79784146_79784147del, NC_000010.10:g.79784147del, NC_000010.10:g.79784147dup, NC_000010.10:g.79784146_79784147dup, NC_000010.10:g.79784145_79784147dup, NC_000010.10:g.79784142_79784147dup, NG_029648.1:g.10162_10170del, NG_029648.1:g.10164_10170del, NG_029648.1:g.10165_10170del, NG_029648.1:g.10167_10170del, NG_029648.1:g.10168_10170del, NG_029648.1:g.10169_10170del, NG_029648.1:g.10170del, NG_029648.1:g.10170dup, NG_029648.1:g.10169_10170dup, NG_029648.1:g.10168_10170dup, NG_029648.1:g.10165_10170dup

Select item 149125450715.

rs1491254507 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:78031528 (GRCh38)
10:79791286 (GRCh37)
Canonical SPDI:: NC_000010.11:78031527:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000010.11:g.78031528_78031529del, NC_000010.10:g.79791286_79791287del, NG_029648.1:g.3012_3013del, NG_012633.1:g.2769_2770del

Select item 149125146916.

rs1491251469 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G [Show Flanks]
Chromosome:: 10:78024371 (GRCh38)
10:79784130 (GRCh37)
Canonical SPDI:: NC_000010.11:78024371::C,NC_000010.11:78024371::G
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/3 (GnomAD)
HGVS:: NC_000010.11:g.78024371_78024372insC, NC_000010.11:g.78024371_78024372insG, NC_000010.10:g.79784129_79784130insC, NC_000010.10:g.79784129_79784130insG, NG_029648.1:g.10169_10170insG, NG_029648.1:g.10169_10170insC

Select item 149124625017.

rs1491246250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 10:78030500 (GRCh38)
10:79790259 (GRCh37)
Canonical SPDI:: NC_000010.11:78030500:TT:TTCTT
Gene:: POLR3A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0./0 (ALFA)
TTC=0.00002/1 (GnomAD)
HGVS:: NC_000010.11:g.78030502_78030503insCTT, NC_000010.10:g.79790260_79790261insCTT, NG_029648.1:g.4040_4041insGAA, NG_012633.1:g.1743_1744insCTT

Select item 149117233218.

rs1491172332 has merged into rs767153897 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:78031540 (GRCh38)
10:79791298 (GRCh37)
Canonical SPDI:: NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:78031528:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AAAA=0.15/6 (GENOME_DK)
HGVS:: NC_000010.11:g.78031540_78031548del, NC_000010.11:g.78031541_78031548del, NC_000010.11:g.78031542_78031548del, NC_000010.11:g.78031543_78031548del, NC_000010.11:g.78031544_78031548del, NC_000010.11:g.78031545_78031548del, NC_000010.11:g.78031546_78031548del, NC_000010.11:g.78031547_78031548del, NC_000010.11:g.78031548del, NC_000010.11:g.78031548dup, NC_000010.11:g.78031547_78031548dup, NC_000010.11:g.78031546_78031548dup, NC_000010.11:g.78031545_78031548dup, NC_000010.11:g.78031544_78031548dup, NC_000010.11:g.78031542_78031548dup, NC_000010.11:g.78031541_78031548dup, NC_000010.10:g.79791298_79791306del, NC_000010.10:g.79791299_79791306del, NC_000010.10:g.79791300_79791306del, NC_000010.10:g.79791301_79791306del, NC_000010.10:g.79791302_79791306del, NC_000010.10:g.79791303_79791306del, NC_000010.10:g.79791304_79791306del, NC_000010.10:g.79791305_79791306del, NC_000010.10:g.79791306del, NC_000010.10:g.79791306dup, NC_000010.10:g.79791305_79791306dup, NC_000010.10:g.79791304_79791306dup, NC_000010.10:g.79791303_79791306dup, NC_000010.10:g.79791302_79791306dup, NC_000010.10:g.79791300_79791306dup, NC_000010.10:g.79791299_79791306dup, NG_029648.1:g.3004_3012del, NG_029648.1:g.3005_3012del, NG_029648.1:g.3006_3012del, NG_029648.1:g.3007_3012del, NG_029648.1:g.3008_3012del, NG_029648.1:g.3009_3012del, NG_029648.1:g.3010_3012del, NG_029648.1:g.3011_3012del, NG_029648.1:g.3012del, NG_029648.1:g.3012dup, NG_029648.1:g.3011_3012dup, NG_029648.1:g.3010_3012dup, NG_029648.1:g.3009_3012dup, NG_029648.1:g.3008_3012dup, NG_029648.1:g.3006_3012dup, NG_029648.1:g.3005_3012dup, NG_012633.1:g.2781_2789del, NG_012633.1:g.2782_2789del, NG_012633.1:g.2783_2789del, NG_012633.1:g.2784_2789del, NG_012633.1:g.2785_2789del, NG_012633.1:g.2786_2789del, NG_012633.1:g.2787_2789del, NG_012633.1:g.2788_2789del, NG_012633.1:g.2789del, NG_012633.1:g.2789dup, NG_012633.1:g.2788_2789dup, NG_012633.1:g.2787_2789dup, NG_012633.1:g.2786_2789dup, NG_012633.1:g.2785_2789dup, NG_012633.1:g.2783_2789dup, NG_012633.1:g.2782_2789dup

Select item 149113027019.

rs1491130270 has merged into rs541466761 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:77974114 (GRCh38)
10:79733872 (GRCh37)
Canonical SPDI:: NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:77974104:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000068/18 (TOPMED)
HGVS:: NC_000010.11:g.77974114_77974129del, NC_000010.11:g.77974115_77974129del, NC_000010.11:g.77974116_77974129del, NC_000010.11:g.77974117_77974129del, NC_000010.11:g.77974118_77974129del, NC_000010.11:g.77974119_77974129del, NC_000010.11:g.77974120_77974129del, NC_000010.11:g.77974121_77974129del, NC_000010.11:g.77974122_77974129del, NC_000010.11:g.77974123_77974129del, NC_000010.11:g.77974124_77974129del, NC_000010.11:g.77974125_77974129del, NC_000010.11:g.77974126_77974129del, NC_000010.11:g.77974127_77974129del, NC_000010.11:g.77974128_77974129del, NC_000010.11:g.77974129del, NC_000010.11:g.77974129dup, NC_000010.11:g.77974128_77974129dup, NC_000010.11:g.77974127_77974129dup, NC_000010.11:g.77974126_77974129dup, NC_000010.11:g.77974125_77974129dup, NC_000010.11:g.77974124_77974129dup, NC_000010.11:g.77974123_77974129dup, NC_000010.11:g.77974122_77974129dup, NC_000010.11:g.77974121_77974129dup, NC_000010.11:g.77974120_77974129dup, NC_000010.11:g.77974119_77974129dup, NC_000010.11:g.77974117_77974129dup, NC_000010.11:g.77974116_77974129dup, NC_000010.11:g.77974106_77974129dup, NC_000010.11:g.77974129_77974130insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000010.10:g.79733872_79733887del, NC_000010.10:g.79733873_79733887del, NC_000010.10:g.79733874_79733887del, NC_000010.10:g.79733875_79733887del, NC_000010.10:g.79733876_79733887del, NC_000010.10:g.79733877_79733887del, NC_000010.10:g.79733878_79733887del, NC_000010.10:g.79733879_79733887del, NC_000010.10:g.79733880_79733887del, NC_000010.10:g.79733881_79733887del, NC_000010.10:g.79733882_79733887del, NC_000010.10:g.79733883_79733887del, NC_000010.10:g.79733884_79733887del, NC_000010.10:g.79733885_79733887del, NC_000010.10:g.79733886_79733887del, NC_000010.10:g.79733887del, NC_000010.10:g.79733887dup, NC_000010.10:g.79733886_79733887dup, NC_000010.10:g.79733885_79733887dup, NC_000010.10:g.79733884_79733887dup, NC_000010.10:g.79733883_79733887dup, NC_000010.10:g.79733882_79733887dup, NC_000010.10:g.79733881_79733887dup, NC_000010.10:g.79733880_79733887dup, NC_000010.10:g.79733879_79733887dup, NC_000010.10:g.79733878_79733887dup, NC_000010.10:g.79733877_79733887dup, NC_000010.10:g.79733875_79733887dup, NC_000010.10:g.79733874_79733887dup, NC_000010.10:g.79733864_79733887dup, NC_000010.10:g.79733887_79733888insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029648.1:g.60421_60436del, NG_029648.1:g.60422_60436del, NG_029648.1:g.60423_60436del, NG_029648.1:g.60424_60436del, NG_029648.1:g.60425_60436del, NG_029648.1:g.60426_60436del, NG_029648.1:g.60427_60436del, NG_029648.1:g.60428_60436del, NG_029648.1:g.60429_60436del, NG_029648.1:g.60430_60436del, NG_029648.1:g.60431_60436del, NG_029648.1:g.60432_60436del, NG_029648.1:g.60433_60436del, NG_029648.1:g.60434_60436del, NG_029648.1:g.60435_60436del, NG_029648.1:g.60436del, NG_029648.1:g.60436dup, NG_029648.1:g.60435_60436dup, NG_029648.1:g.60434_60436dup, NG_029648.1:g.60433_60436dup, NG_029648.1:g.60432_60436dup, NG_029648.1:g.60431_60436dup, NG_029648.1:g.60430_60436dup, NG_029648.1:g.60429_60436dup, NG_029648.1:g.60428_60436dup, NG_029648.1:g.60427_60436dup, NG_029648.1:g.60426_60436dup, NG_029648.1:g.60424_60436dup, NG_029648.1:g.60423_60436dup, NG_029648.1:g.60413_60436dup, NG_029648.1:g.60436_60437insAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149111998720.

rs1491119987 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:78024370 (GRCh38)
10:79784128 (GRCh37)
Canonical SPDI:: NC_000010.11:78024369:CA:
Gene:: POLR3A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.78024370_78024371del, NC_000010.10:g.79784128_79784129del, NG_029648.1:g.10170_10171del

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