SNP Links for Gene (Select 57096) - SNP

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Select item 14915491931.

rs1491549193 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:21295478 (GRCh38)
14:21763637 (GRCh37)
Canonical SPDI:: NC_000014.9:21295477:AT:
Gene:: RPGRIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00049/8 (ALFA)
-=0.00085/72 (GnomAD)
-=0.00125/8 (1000Genomes)
HGVS:: NC_000014.9:g.21295478_21295479del, NC_000014.8:g.21763637_21763638del, NG_008933.1:g.12502_12503del

Select item 14914931362.

rs1491493136 has merged into rs10647461 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GT,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT [Show Flanks]
Chromosome:: 14:21323799 (GRCh38)
14:21791958 (GRCh37)
Canonical SPDI:: NC_000014.9:21323786:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000014.9:21323786:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000014.9:21323786:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000014.9:21323786:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000014.9:21323786:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000014.9:21323786:GTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.02336/5 (Vietnamese)
GT=0.15575/780 (1000Genomes)
GT=0.225/9 (GENOME_DK)
GT=0.29/174 (NorthernSweden)
HGVS:: NC_000014.9:g.21323787GT[6], NC_000014.9:g.21323787GT[7], NC_000014.9:g.21323787GT[8], NC_000014.9:g.21323787GT[10], NC_000014.9:g.21323787GT[11], NC_000014.9:g.21323787GT[12], NC_000014.8:g.21791946GT[6], NC_000014.8:g.21791946GT[7], NC_000014.8:g.21791946GT[8], NC_000014.8:g.21791946GT[10], NC_000014.8:g.21791946GT[11], NC_000014.8:g.21791946GT[12], NG_008933.1:g.40811GT[6], NG_008933.1:g.40811GT[7], NG_008933.1:g.40811GT[8], NG_008933.1:g.40811GT[10], NG_008933.1:g.40811GT[11], NG_008933.1:g.40811GT[12]

Select item 14914803463.

rs1491480346 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:21301722 (GRCh38)
14:21769881 (GRCh37)
Canonical SPDI:: NC_000014.9:21301720:ATA:A
Gene:: RPGRIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
-=0.0003/17 (GnomAD)
HGVS:: NC_000014.9:g.21301722_21301723del, NC_000014.8:g.21769881_21769882del, NG_008933.1:g.18746_18747del

Select item 14914673394.

rs1491467339 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 14:21297084 (GRCh38)
14:21765243 (GRCh37)
Canonical SPDI:: NC_000014.9:21297080:TTTTT:TTT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (TWINSUK)
-=0.0003/1 (ALSPAC)
HGVS:: NC_000014.9:g.21297084_21297085del, NC_000014.8:g.21765243_21765244del, NG_008933.1:g.14108_14109del

Select item 14914395385.

rs1491439538 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 14:21350603 (GRCh38)
14:21818763 (GRCh37)
Canonical SPDI:: NC_000014.9:21350603:A:AA
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.21350604dup, NC_000014.8:g.21818763dup, NG_008933.1:g.67628dup, NG_009932.1:g.38663dup

Select item 14914331776.

rs1491433177 [Homo sapiens]

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

Select item 14913916167.

rs1491391616 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,T [Show Flanks]
Chromosome:: 14:21349067 (GRCh38)
14:21817227 (GRCh37)
Canonical SPDI:: NC_000014.9:21349067::G,NC_000014.9:21349067::T
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00032/9 (TOMMO)
HGVS:: NC_000014.9:g.21349067_21349068insG, NC_000014.9:g.21349067_21349068insT, NC_000014.8:g.21817226_21817227insG, NC_000014.8:g.21817226_21817227insT, NG_008933.1:g.66091_66092insG, NG_008933.1:g.66091_66092insT

Select item 14913823708.

rs1491382370 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 14:21351786 (GRCh38)
14:21819946 (GRCh37)
Canonical SPDI:: NC_000014.9:21351786::AA
Gene:: SUPT16H (Varview), RPGRIP1 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000066/1 (ALFA)
AA=0.000004/1 (TOPMED)
AA=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.21351786_21351787insAA, NC_000014.8:g.21819945_21819946insAA, NG_008933.1:g.68810_68811insAA, NG_009932.1:g.37480_37481insTT, NM_007192.4:c.*886_*887insTT, NM_007192.3:c.*886_*887insTT, XM_047430899.1:c.*886_*887insTT

Select item 14913614009.

rs1491361400 has merged into rs745797465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT,TTTTTTT [Show Flanks]
Chromosome:: 14:21320593 (GRCh38)
14:21788753 (GRCh37)
Canonical SPDI:: NC_000014.9:21320593:T:TT,NC_000014.9:21320593:T:TTT,NC_000014.9:21320593:T:TTTTTTTT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000017/2 (GnomAD)
TT=0.001888/7 (TWINSUK)
TT=0.002335/9 (ALSPAC)
HGVS:: NC_000014.9:g.21320594dup, NC_000014.9:g.21320594_21320595insTT, NC_000014.9:g.21320594_21320595insTTTTTTT, NC_000014.8:g.21788753dup, NC_000014.8:g.21788753_21788754insTT, NC_000014.8:g.21788753_21788754insTTTTTTT, NG_008933.1:g.37618dup, NG_008933.1:g.37618_37619insTT, NG_008933.1:g.37618_37619insTTTTTTT

Select item 149135633910.

rs1491356339 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAGAAAGAAAG [Show Flanks]
Chromosome:: 14:21304424 (GRCh38)
14:21772584 (GRCh37)
Canonical SPDI:: NC_000014.9:21304424:AAGAAAGAAAG:AAGAAAGAAAGGAAGAAAGAAAG
Gene:: RPGRIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGGAAGAAAGAAAG=0./0 (ALFA)
AAGAAAGAAAGG=0.000043/6 (GnomAD)
AAGAAAGAAAGG=0.000432/7 (TOMMO)
AAGAAAGAAAGG=0.001092/2 (Korea1K)
HGVS:: NC_000014.9:g.21304425_21304435AAGA[2]AAGGAAGAAAGAAAG[1], NC_000014.8:g.21772584_21772594AAGA[2]AAGGAAGAAAGAAAG[1], NG_008933.1:g.21449_21459AAGA[2]AAGGAAGAAAGAAAG[1]

Select item 149134913411.

rs1491349134 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:21315975 (GRCh38)
14:21784135 (GRCh37)
Canonical SPDI:: NC_000014.9:21315975::C
Gene:: RPGRIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00071/17 (GnomAD)
HGVS:: NC_000014.9:g.21315975_21315976insC, NC_000014.8:g.21784134_21784135insC, NG_008933.1:g.32999_33000insC

Select item 149133293712.

rs1491332937 has merged into rs59447072 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:21302876 (GRCh38)
14:21771035 (GRCh37)
Canonical SPDI:: NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21302865:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.21302876_21302887del, NC_000014.9:g.21302879_21302887del, NC_000014.9:g.21302880_21302887del, NC_000014.9:g.21302881_21302887del, NC_000014.9:g.21302884_21302887del, NC_000014.9:g.21302885_21302887del, NC_000014.9:g.21302886_21302887del, NC_000014.9:g.21302887del, NC_000014.9:g.21302887dup, NC_000014.9:g.21302886_21302887dup, NC_000014.9:g.21302885_21302887dup, NC_000014.9:g.21302884_21302887dup, NC_000014.9:g.21302883_21302887dup, NC_000014.9:g.21302882_21302887dup, NC_000014.9:g.21302881_21302887dup, NC_000014.9:g.21302880_21302887dup, NC_000014.9:g.21302879_21302887dup, NC_000014.9:g.21302878_21302887dup, NC_000014.9:g.21302877_21302887dup, NC_000014.9:g.21302876_21302887dup, NC_000014.9:g.21302875_21302887dup, NC_000014.9:g.21302874_21302887dup, NC_000014.9:g.21302872_21302887dup, NC_000014.9:g.21302870_21302887dup, NC_000014.9:g.21302869_21302887dup, NC_000014.9:g.21302866_21302887T[44]CTT[2]T[28], NC_000014.9:g.21302887_21302888insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.21302887_21302888insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.21302887_21302888insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.21302887_21302888insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.21302887_21302888insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21771035_21771046del, NC_000014.8:g.21771038_21771046del, NC_000014.8:g.21771039_21771046del, NC_000014.8:g.21771040_21771046del, NC_000014.8:g.21771043_21771046del, NC_000014.8:g.21771044_21771046del, NC_000014.8:g.21771045_21771046del, NC_000014.8:g.21771046del, NC_000014.8:g.21771046dup, NC_000014.8:g.21771045_21771046dup, NC_000014.8:g.21771044_21771046dup, NC_000014.8:g.21771043_21771046dup, NC_000014.8:g.21771042_21771046dup, NC_000014.8:g.21771041_21771046dup, NC_000014.8:g.21771040_21771046dup, NC_000014.8:g.21771039_21771046dup, NC_000014.8:g.21771038_21771046dup, NC_000014.8:g.21771037_21771046dup, NC_000014.8:g.21771036_21771046dup, NC_000014.8:g.21771035_21771046dup, NC_000014.8:g.21771034_21771046dup, NC_000014.8:g.21771033_21771046dup, NC_000014.8:g.21771031_21771046dup, NC_000014.8:g.21771029_21771046dup, NC_000014.8:g.21771028_21771046dup, NC_000014.8:g.21771025_21771046T[44]CTT[2]T[28], NC_000014.8:g.21771046_21771047insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21771046_21771047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21771046_21771047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21771046_21771047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.21771046_21771047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008933.1:g.19900_19911del, NG_008933.1:g.19903_19911del, NG_008933.1:g.19904_19911del, NG_008933.1:g.19905_19911del, NG_008933.1:g.19908_19911del, NG_008933.1:g.19909_19911del, NG_008933.1:g.19910_19911del, NG_008933.1:g.19911del, NG_008933.1:g.19911dup, NG_008933.1:g.19910_19911dup, NG_008933.1:g.19909_19911dup, NG_008933.1:g.19908_19911dup, NG_008933.1:g.19907_19911dup, NG_008933.1:g.19906_19911dup, NG_008933.1:g.19905_19911dup, NG_008933.1:g.19904_19911dup, NG_008933.1:g.19903_19911dup, NG_008933.1:g.19902_19911dup, NG_008933.1:g.19901_19911dup, NG_008933.1:g.19900_19911dup, NG_008933.1:g.19899_19911dup, NG_008933.1:g.19898_19911dup, NG_008933.1:g.19896_19911dup, NG_008933.1:g.19894_19911dup, NG_008933.1:g.19893_19911dup, NG_008933.1:g.19890_19911T[44]CTT[2]T[28], NG_008933.1:g.19911_19912insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008933.1:g.19911_19912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008933.1:g.19911_19912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008933.1:g.19911_19912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008933.1:g.19911_19912insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149132357413.

rs1491323574 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 14:21323787 (GRCh38)
14:21791947 (GRCh37)
Canonical SPDI:: NC_000014.9:21323787:T:TAT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.000036/3 (GnomAD)
TA=0.000064/17 (TOPMED)
TA=0.000106/2 (TOMMO)
HGVS:: NC_000014.9:g.21323788_21323789insAT, NC_000014.8:g.21791947_21791948insAT, NG_008933.1:g.40812_40813insAT

Select item 149129583714.

rs1491295837 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:21350603 (GRCh38)
14:21818762 (GRCh37)
Canonical SPDI:: NC_000014.9:21350602:TA:
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000014.9:g.21350603_21350604del, NC_000014.8:g.21818762_21818763del, NG_008933.1:g.67627_67628del, NG_009932.1:g.38663_38664del

Select item 149127077415.

rs1491270774 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:21320595 (GRCh38)
14:21788754 (GRCh37)
Canonical SPDI:: NC_000014.9:21320592:CTCT:CT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0.00017/2 (ALFA)
HGVS:: NC_000014.9:g.21320593CT[1], NC_000014.8:g.21788752CT[1], NG_008933.1:g.37617CT[1]

Select item 149126982716.

rs1491269827 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:21330405 (GRCh38)
14:21798564 (GRCh37)
Canonical SPDI:: NC_000014.9:21330403:TCT:T
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0./0 (ExAC)
HGVS:: NC_000014.9:g.21330405_21330406del, NC_000014.8:g.21798564_21798565del, NG_008933.1:g.47429_47430del

Select item 149126621417.

rs1491266214 has merged into rs371722654 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 14:21304395 (GRCh38)
14:21772554 (GRCh37)
Canonical SPDI:: NC_000014.9:21304393:AGA:A,NC_000014.9:21304393:AGA:AGAGA
Gene:: RPGRIP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.16043/1903 (ALFA)
-=0.00521/87 (TOMMO)
-=0.11186/66 (NorthernSweden)
-=0.17386/9551 (GnomAD)
HGVS:: NC_000014.9:g.21304395_21304396del, NC_000014.9:g.21304395_21304396dup, NC_000014.8:g.21772554_21772555del, NC_000014.8:g.21772554_21772555dup, NG_008933.1:g.21419_21420del, NG_008933.1:g.21419_21420dup

Select item 149125114818.

rs1491251148 has merged into rs11342361 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGGGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTGAGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:21295488 (GRCh38)
14:21763647 (GRCh37)
Canonical SPDI:: NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTGGGTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:21295478:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTT=0.0761/381 (1000Genomes)
HGVS:: NC_000014.9:g.21295488_21295500del, NC_000014.9:g.21295491_21295500del, NC_000014.9:g.21295492_21295500del, NC_000014.9:g.21295493_21295500del, NC_000014.9:g.21295494_21295500del, NC_000014.9:g.21295495_21295500del, NC_000014.9:g.21295496_21295500del, NC_000014.9:g.21295497_21295500del, NC_000014.9:g.21295498_21295500del, NC_000014.9:g.21295499_21295500del, NC_000014.9:g.21295500del, NC_000014.9:g.21295500dup, NC_000014.9:g.21295479_21295500T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.21295499_21295500dup, NC_000014.9:g.21295498_21295500dup, NC_000014.9:g.21295479_21295500T[26]GGGTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.21295496_21295500dup, NC_000014.9:g.21295495_21295500dup, NC_000014.9:g.21295479_21295500T[28]GAGTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.21295494_21295500dup, NC_000014.8:g.21763647_21763659del, NC_000014.8:g.21763650_21763659del, NC_000014.8:g.21763651_21763659del, NC_000014.8:g.21763652_21763659del, NC_000014.8:g.21763653_21763659del, NC_000014.8:g.21763654_21763659del, NC_000014.8:g.21763655_21763659del, NC_000014.8:g.21763656_21763659del, NC_000014.8:g.21763657_21763659del, NC_000014.8:g.21763658_21763659del, NC_000014.8:g.21763659del, NC_000014.8:g.21763659dup, NC_000014.8:g.21763638_21763659T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.21763658_21763659dup, NC_000014.8:g.21763657_21763659dup, NC_000014.8:g.21763638_21763659T[26]GGGTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.21763655_21763659dup, NC_000014.8:g.21763654_21763659dup, NC_000014.8:g.21763638_21763659T[28]GAGTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.21763653_21763659dup, NG_008933.1:g.12512_12524del, NG_008933.1:g.12515_12524del, NG_008933.1:g.12516_12524del, NG_008933.1:g.12517_12524del, NG_008933.1:g.12518_12524del, NG_008933.1:g.12519_12524del, NG_008933.1:g.12520_12524del, NG_008933.1:g.12521_12524del, NG_008933.1:g.12522_12524del, NG_008933.1:g.12523_12524del, NG_008933.1:g.12524del, NG_008933.1:g.12524dup, NG_008933.1:g.12503_12524T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NG_008933.1:g.12523_12524dup, NG_008933.1:g.12522_12524dup, NG_008933.1:g.12503_12524T[26]GGGTTTTTTTTTTTTTTTTTTTTTT[1], NG_008933.1:g.12520_12524dup, NG_008933.1:g.12519_12524dup, NG_008933.1:g.12503_12524T[28]GAGTTTTTTTTTTTTTTTTTTTTTT[1], NG_008933.1:g.12518_12524dup

Select item 149124673019.

rs1491246730 [Homo sapiens]

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

Select item 149123438720.

rs1491234387 has merged into rs557139978 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 14:21314727 (GRCh38)
14:21782886 (GRCh37)
Canonical SPDI:: NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:21314714:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: RPGRIP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4345/2176 (1000Genomes)
HGVS:: NC_000014.9:g.21314727_21314730del, NC_000014.9:g.21314728_21314730del, NC_000014.9:g.21314729_21314730del, NC_000014.9:g.21314730del, NC_000014.9:g.21314730dup, NC_000014.9:g.21314729_21314730dup, NC_000014.9:g.21314728_21314730dup, NC_000014.9:g.21314727_21314730dup, NC_000014.8:g.21782886_21782889del, NC_000014.8:g.21782887_21782889del, NC_000014.8:g.21782888_21782889del, NC_000014.8:g.21782889del, NC_000014.8:g.21782889dup, NC_000014.8:g.21782888_21782889dup, NC_000014.8:g.21782887_21782889dup, NC_000014.8:g.21782886_21782889dup, NG_008933.1:g.31751_31754del, NG_008933.1:g.31752_31754del, NG_008933.1:g.31753_31754del, NG_008933.1:g.31754del, NG_008933.1:g.31754dup, NG_008933.1:g.31753_31754dup, NG_008933.1:g.31752_31754dup, NG_008933.1:g.31751_31754dup

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