SNP Links for Nucleotide (Select 1073522706) - SNP

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Select item 14915664641.

rs1491566464 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A,AA,AAA,AAAA [Show Flanks]
Chromosome:: 14:35751812 (GRCh38)
14:36221019 (GRCh37)
Canonical SPDI:: NC_000014.9:35751812:AAAAAAAAA:AAAAAAAAAA,NC_000014.9:35751812:AAAAAAAAA:AAAAAAAAAAA,NC_000014.9:35751812:AAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:35751812:AAAAAAAAA:AAAAAAAAAAAAA
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.35751821dup, NC_000014.9:g.35751820_35751821dup, NC_000014.9:g.35751819_35751821dup, NC_000014.9:g.35751818_35751821dup, NC_000014.8:g.36221027dup, NC_000014.8:g.36221026_36221027dup, NC_000014.8:g.36221025_36221027dup, NC_000014.8:g.36221024_36221027dup, NG_051667.1:g.62511dup, NG_051667.1:g.62510_62511dup, NG_051667.1:g.62509_62511dup, NG_051667.1:g.62508_62511dup

Select item 14915277942.

rs1491527794 has merged into rs970876498 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 14:35566921 (GRCh38)
14:36036127 (GRCh37)
Canonical SPDI:: NC_000014.9:35566911:TATATATATAT:TATATATAT,NC_000014.9:35566911:TATATATATAT:TATATATATATAT,NC_000014.9:35566911:TATATATATAT:TATATATATATATAT
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.00003/8 (TOPMED)
HGVS:: NC_000014.9:g.35566913AT[4], NC_000014.9:g.35566913AT[6], NC_000014.9:g.35566913AT[7], NC_000014.8:g.36036119AT[4], NC_000014.8:g.36036119AT[6], NC_000014.8:g.36036119AT[7], NG_051667.1:g.247403TA[4], NG_051667.1:g.247403TA[6], NG_051667.1:g.247403TA[7]

Select item 14915122733.

rs1491512273 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:35552719 (GRCh38)
14:36021925 (GRCh37)
Canonical SPDI:: NC_000014.9:35552718:CA:
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.35552719_35552720del, NC_000014.8:g.36021925_36021926del, NG_051667.1:g.261604_261605del

Select item 14915099554.

rs1491509955 has merged into rs530576211 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:35797363 (GRCh38)
14:36266569 (GRCh37)
Canonical SPDI:: NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35797351:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00412/2 (NorthernSweden)
AAAAAAAAAAAAAAAAAAAAAAAA=0.46925/2350 (1000Genomes)
HGVS:: NC_000014.9:g.35797363_35797368del, NC_000014.9:g.35797364_35797368del, NC_000014.9:g.35797365_35797368del, NC_000014.9:g.35797366_35797368del, NC_000014.9:g.35797367_35797368del, NC_000014.9:g.35797368del, NC_000014.9:g.35797368dup, NC_000014.9:g.35797367_35797368dup, NC_000014.9:g.35797366_35797368dup, NC_000014.9:g.35797365_35797368dup, NC_000014.9:g.35797364_35797368dup, NC_000014.9:g.35797363_35797368dup, NC_000014.9:g.35797362_35797368dup, NC_000014.9:g.35797361_35797368dup, NC_000014.9:g.35797360_35797368dup, NC_000014.9:g.35797359_35797368dup, NC_000014.9:g.35797358_35797368dup, NC_000014.9:g.35797357_35797368dup, NC_000014.9:g.35797356_35797368dup, NC_000014.9:g.35797355_35797368dup, NC_000014.9:g.35797354_35797368dup, NC_000014.9:g.35797353_35797368dup, NC_000014.9:g.35797352_35797368dup, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35797368_35797369insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266569_36266574del, NC_000014.8:g.36266570_36266574del, NC_000014.8:g.36266571_36266574del, NC_000014.8:g.36266572_36266574del, NC_000014.8:g.36266573_36266574del, NC_000014.8:g.36266574del, NC_000014.8:g.36266574dup, NC_000014.8:g.36266573_36266574dup, NC_000014.8:g.36266572_36266574dup, NC_000014.8:g.36266571_36266574dup, NC_000014.8:g.36266570_36266574dup, NC_000014.8:g.36266569_36266574dup, NC_000014.8:g.36266568_36266574dup, NC_000014.8:g.36266567_36266574dup, NC_000014.8:g.36266566_36266574dup, NC_000014.8:g.36266565_36266574dup, NC_000014.8:g.36266564_36266574dup, NC_000014.8:g.36266563_36266574dup, NC_000014.8:g.36266562_36266574dup, NC_000014.8:g.36266561_36266574dup, NC_000014.8:g.36266560_36266574dup, NC_000014.8:g.36266559_36266574dup, NC_000014.8:g.36266558_36266574dup, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36266574_36266575insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.16967_16972del, NG_051667.1:g.16968_16972del, NG_051667.1:g.16969_16972del, NG_051667.1:g.16970_16972del, NG_051667.1:g.16971_16972del, NG_051667.1:g.16972del, NG_051667.1:g.16972dup, NG_051667.1:g.16971_16972dup, NG_051667.1:g.16970_16972dup, NG_051667.1:g.16969_16972dup, NG_051667.1:g.16968_16972dup, NG_051667.1:g.16967_16972dup, NG_051667.1:g.16966_16972dup, NG_051667.1:g.16965_16972dup, NG_051667.1:g.16964_16972dup, NG_051667.1:g.16963_16972dup, NG_051667.1:g.16962_16972dup, NG_051667.1:g.16961_16972dup, NG_051667.1:g.16960_16972dup, NG_051667.1:g.16959_16972dup, NG_051667.1:g.16958_16972dup, NG_051667.1:g.16957_16972dup, NG_051667.1:g.16956_16972dup, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.16972_16973insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914886945.

rs1491488694 [Homo sapiens]

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

Select item 14914878466.

rs1491487846 [Homo sapiens]

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

Select item 14914872567.

rs1491487256 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:35783310 (GRCh38)
14:36252516 (GRCh37)
Canonical SPDI:: NC_000014.9:35783309:GA:
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35783310_35783311del, NC_000014.8:g.36252516_36252517del, NG_051667.1:g.31013_31014del

Select item 14914655758.

rs1491465575 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:35566911 (GRCh38)
14:36036117 (GRCh37)
Canonical SPDI:: NC_000014.9:35566910:CT:
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.35566911_35566912del, NC_000014.8:g.36036117_36036118del, NG_051667.1:g.247412_247413del

Select item 14914579269.

rs1491457926 has merged into rs149494591 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 14:35598413 (GRCh38)
14:36067619 (GRCh37)
Canonical SPDI:: NC_000014.9:35598401:TATATATATATAT:TATATATATAT,NC_000014.9:35598401:TATATATATATAT:TATATATATATATAT,NC_000014.9:35598401:TATATATATATAT:TATATATATATATATAT
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.0683/41 (NorthernSweden)
TA=0.2815/1410 (1000Genomes)
TA=0.3426/74 (Vietnamese)
HGVS:: NC_000014.9:g.35598403AT[5], NC_000014.9:g.35598403AT[7], NC_000014.9:g.35598403AT[8], NC_000014.8:g.36067609AT[5], NC_000014.8:g.36067609AT[7], NC_000014.8:g.36067609AT[8], NG_051667.1:g.215911TA[5], NG_051667.1:g.215911TA[7], NG_051667.1:g.215911TA[8]

Select item 149144308810.

rs1491443088 has merged into rs201089890 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 14:35757130 (GRCh38)
14:36226336 (GRCh37)
Canonical SPDI:: NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35757119:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.00333/2 (NorthernSweden)
HGVS:: NC_000014.9:g.35757130_35757135del, NC_000014.9:g.35757131_35757135del, NC_000014.9:g.35757132_35757135del, NC_000014.9:g.35757133_35757135del, NC_000014.9:g.35757134_35757135del, NC_000014.9:g.35757135del, NC_000014.9:g.35757135dup, NC_000014.9:g.35757134_35757135dup, NC_000014.9:g.35757133_35757135dup, NC_000014.8:g.36226336_36226341del, NC_000014.8:g.36226337_36226341del, NC_000014.8:g.36226338_36226341del, NC_000014.8:g.36226339_36226341del, NC_000014.8:g.36226340_36226341del, NC_000014.8:g.36226341del, NC_000014.8:g.36226341dup, NC_000014.8:g.36226340_36226341dup, NC_000014.8:g.36226339_36226341dup, NG_051667.1:g.57199_57204del, NG_051667.1:g.57200_57204del, NG_051667.1:g.57201_57204del, NG_051667.1:g.57202_57204del, NG_051667.1:g.57203_57204del, NG_051667.1:g.57204del, NG_051667.1:g.57204dup, NG_051667.1:g.57203_57204dup, NG_051667.1:g.57202_57204dup

Select item 149142680711.

rs1491426807 has merged into rs71124708 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:35600236 (GRCh38)
14:36069442 (GRCh37)
Canonical SPDI:: NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:35600232:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0./0 (GENOME_DK)
HGVS:: NC_000014.9:g.35600236_35600249del, NC_000014.9:g.35600242_35600249del, NC_000014.9:g.35600244_35600249del, NC_000014.9:g.35600245_35600249del, NC_000014.9:g.35600246_35600249del, NC_000014.9:g.35600247_35600249del, NC_000014.9:g.35600248_35600249del, NC_000014.9:g.35600249del, NC_000014.9:g.35600249dup, NC_000014.9:g.35600248_35600249dup, NC_000014.9:g.35600247_35600249dup, NC_000014.9:g.35600246_35600249dup, NC_000014.9:g.35600245_35600249dup, NC_000014.9:g.35600244_35600249dup, NC_000014.9:g.35600233_35600249T[23]CTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.35600233_35600249T[23]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.35600243_35600249dup, NC_000014.9:g.35600242_35600249dup, NC_000014.9:g.35600233_35600249T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.35600241_35600249dup, NC_000014.9:g.35600240_35600249dup, NC_000014.9:g.35600233_35600249T[27]CTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.35600239_35600249dup, NC_000014.9:g.35600238_35600249dup, NC_000014.9:g.35600237_35600249dup, NC_000014.9:g.35600235_35600249dup, NC_000014.9:g.35600234_35600249dup, NC_000014.9:g.35600233_35600249dup, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.35600249_35600250insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069442_36069455del, NC_000014.8:g.36069448_36069455del, NC_000014.8:g.36069450_36069455del, NC_000014.8:g.36069451_36069455del, NC_000014.8:g.36069452_36069455del, NC_000014.8:g.36069453_36069455del, NC_000014.8:g.36069454_36069455del, NC_000014.8:g.36069455del, NC_000014.8:g.36069455dup, NC_000014.8:g.36069454_36069455dup, NC_000014.8:g.36069453_36069455dup, NC_000014.8:g.36069452_36069455dup, NC_000014.8:g.36069451_36069455dup, NC_000014.8:g.36069450_36069455dup, NC_000014.8:g.36069439_36069455T[23]CTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.36069439_36069455T[23]CTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.36069449_36069455dup, NC_000014.8:g.36069448_36069455dup, NC_000014.8:g.36069439_36069455T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.36069447_36069455dup, NC_000014.8:g.36069446_36069455dup, NC_000014.8:g.36069439_36069455T[27]CTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.36069445_36069455dup, NC_000014.8:g.36069444_36069455dup, NC_000014.8:g.36069443_36069455dup, NC_000014.8:g.36069441_36069455dup, NC_000014.8:g.36069440_36069455dup, NC_000014.8:g.36069439_36069455dup, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.36069455_36069456insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.214078_214091del, NG_051667.1:g.214084_214091del, NG_051667.1:g.214086_214091del, NG_051667.1:g.214087_214091del, NG_051667.1:g.214088_214091del, NG_051667.1:g.214089_214091del, NG_051667.1:g.214090_214091del, NG_051667.1:g.214091del, NG_051667.1:g.214091dup, NG_051667.1:g.214090_214091dup, NG_051667.1:g.214089_214091dup, NG_051667.1:g.214088_214091dup, NG_051667.1:g.214087_214091dup, NG_051667.1:g.214086_214091dup, NG_051667.1:g.214075_214091A[18]GAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051667.1:g.214075_214091A[21]GAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051667.1:g.214085_214091dup, NG_051667.1:g.214084_214091dup, NG_051667.1:g.214075_214091A[29]GAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051667.1:g.214083_214091dup, NG_051667.1:g.214082_214091dup, NG_051667.1:g.214075_214091A[18]GAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051667.1:g.214081_214091dup, NG_051667.1:g.214080_214091dup, NG_051667.1:g.214079_214091dup, NG_051667.1:g.214077_214091dup, NG_051667.1:g.214076_214091dup, NG_051667.1:g.214075_214091dup, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051667.1:g.214091_214092insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149140637212.

rs1491406372 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:35662938 (GRCh38)
14:36132145 (GRCh37)
Canonical SPDI:: NC_000014.9:35662938::T
Gene:: RALGAPA1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000042/4 (GnomAD)
HGVS:: NC_000014.9:g.35662938_35662939insT, NC_000014.8:g.36132144_36132145insT, NG_051667.1:g.151385_151386insA, XR_007063998.1:n.7397_7398insA

Select item 149140488413.

rs1491404884 has merged into rs34611097 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:35759917 (GRCh38)
14:36229123 (GRCh37)
Canonical SPDI:: NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35759911:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000014.9:g.35759917_35759928del, NC_000014.9:g.35759924_35759928del, NC_000014.9:g.35759925_35759928del, NC_000014.9:g.35759926_35759928del, NC_000014.9:g.35759927_35759928del, NC_000014.9:g.35759928del, NC_000014.9:g.35759928dup, NC_000014.9:g.35759927_35759928dup, NC_000014.9:g.35759926_35759928dup, NC_000014.9:g.35759925_35759928dup, NC_000014.9:g.35759924_35759928dup, NC_000014.8:g.36229123_36229134del, NC_000014.8:g.36229130_36229134del, NC_000014.8:g.36229131_36229134del, NC_000014.8:g.36229132_36229134del, NC_000014.8:g.36229133_36229134del, NC_000014.8:g.36229134del, NC_000014.8:g.36229134dup, NC_000014.8:g.36229133_36229134dup, NC_000014.8:g.36229132_36229134dup, NC_000014.8:g.36229131_36229134dup, NC_000014.8:g.36229130_36229134dup, NG_051667.1:g.54401_54412del, NG_051667.1:g.54408_54412del, NG_051667.1:g.54409_54412del, NG_051667.1:g.54410_54412del, NG_051667.1:g.54411_54412del, NG_051667.1:g.54412del, NG_051667.1:g.54412dup, NG_051667.1:g.54411_54412dup, NG_051667.1:g.54410_54412dup, NG_051667.1:g.54409_54412dup, NG_051667.1:g.54408_54412dup

Select item 149139210814.

rs1491392108 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:35793594 (GRCh38)
14:36262801 (GRCh37)
Canonical SPDI:: NC_000014.9:35793594::C
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000062/8 (GnomAD)
C=0.000142/2 (TOMMO)
HGVS:: NC_000014.9:g.35793594_35793595insC, NC_000014.8:g.36262800_36262801insC, NG_051667.1:g.20729_20730insG

Select item 149137365315.

rs1491373653 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 14:35757120 (GRCh38)
14:36226327 (GRCh37)
Canonical SPDI:: NC_000014.9:35757120:T:TAT
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0.001855/22 (ALFA)
TA=0.000105/13 (GnomAD)
TA=0.003503/59 (TOMMO)
HGVS:: NC_000014.9:g.35757121_35757122insAT, NC_000014.8:g.36226327_36226328insAT, NG_051667.1:g.57203_57204insTA

Select item 149135840216.

rs1491358402 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:35554364 (GRCh38)
14:36023570 (GRCh37)
Canonical SPDI:: NC_000014.9:35554363:TG:
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00169/20 (ALFA)
-=0.00834/139 (TOMMO)
HGVS:: NC_000014.9:g.35554364_35554365del, NC_000014.8:g.36023570_36023571del, NG_051667.1:g.259959_259960del

Select item 149135443017.

rs1491354430 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAGA [Show Flanks]
Chromosome:: 14:35763793 (GRCh38)
14:36233000 (GRCh37)
Canonical SPDI:: NC_000014.9:35763793:A:ATAGA
Gene:: RALGAPA1 (Varview), SNORA101B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATAGA=0./0 (ALFA)
ATAG=0.000008/1 (GnomAD)
HGVS:: NC_000014.9:g.35763794_35763795insTAGA, NC_000014.8:g.36233000_36233001insTAGA, NG_051667.1:g.50530_50531insCTAT

Select item 149130851818.

rs1491308518 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:35759911 (GRCh38)
14:36229117 (GRCh37)
Canonical SPDI:: NC_000014.9:35759910:CA:
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.35759911_35759912del, NC_000014.8:g.36229117_36229118del, NG_051667.1:g.54412_54413del

Select item 149130677219.

rs1491306772 has merged into rs34917498 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:35552732 (GRCh38)
14:36021938 (GRCh37)
Canonical SPDI:: NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:35552719:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RALGAPA1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.35552732_35552735del, NC_000014.9:g.35552733_35552735del, NC_000014.9:g.35552734_35552735del, NC_000014.9:g.35552735del, NC_000014.9:g.35552735dup, NC_000014.9:g.35552734_35552735dup, NC_000014.9:g.35552733_35552735dup, NC_000014.9:g.35552722_35552735dup, NC_000014.9:g.35552735_35552736insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.9:g.35552720_35552735A[21]CAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000014.8:g.36021938_36021941del, NC_000014.8:g.36021939_36021941del, NC_000014.8:g.36021940_36021941del, NC_000014.8:g.36021941del, NC_000014.8:g.36021941dup, NC_000014.8:g.36021940_36021941dup, NC_000014.8:g.36021939_36021941dup, NC_000014.8:g.36021928_36021941dup, NC_000014.8:g.36021941_36021942insAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.36021926_36021941A[21]CAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051667.1:g.261601_261604del, NG_051667.1:g.261602_261604del, NG_051667.1:g.261603_261604del, NG_051667.1:g.261604del, NG_051667.1:g.261604dup, NG_051667.1:g.261603_261604dup, NG_051667.1:g.261602_261604dup, NG_051667.1:g.261591_261604dup, NG_051667.1:g.261604_261605insTTTTTTTTTTTTTTTTTTTTTT, NG_051667.1:g.261589_261604T[23]GTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149130422420.

rs1491304224 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:35723380 (GRCh38)
14:36192586 (GRCh37)
Canonical SPDI:: NC_000014.9:35723379:CT:
Gene:: RALGAPA1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.35723380_35723381del, NC_000014.8:g.36192586_36192587del, NG_051667.1:g.90943_90944del

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