SNP Links for Gene (Select 151393) - SNP

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Select item 14915799341.

rs1491579934 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:37968438 (GRCh38)
2:38195581 (GRCh37)
Canonical SPDI:: NC_000002.12:37968437:CA:
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04451/528 (ALFA)
-=0.00139/39 (TOMMO)
HGVS:: NC_000002.12:g.37968438_37968439del, NC_000002.11:g.38195581_38195582del

Select item 14915699072.

rs1491569907 [Homo sapiens]

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

Select item 14915509123.

rs1491550912 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACTACTACACC,TGC [Show Flanks]
Chromosome:: 2:37995365 (GRCh38)
2:38222509 (GRCh37)
Canonical SPDI:: NC_000002.12:37995365:C:CTACTACTACACC,NC_000002.12:37995365:C:CTGC
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGC=0./0 (ALFA)
CTG=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.37995366CTA[3]CACC[1], NC_000002.12:g.37995366_37995367insTGC, NC_000002.11:g.38222509CTA[3]CACC[1], NC_000002.11:g.38222509_38222510insTGC

Select item 14914375854.

rs1491437585 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TAAATA [Show Flanks]
Chromosome:: 2:38003557 (GRCh38)
2:38230700 (GRCh37)
Canonical SPDI:: NC_000002.12:38003555:ATA:A,NC_000002.12:38003555:ATA:ATAAATA
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAAATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.38003557_38003558del, NC_000002.12:g.38003558_38003559insAATA, NC_000002.11:g.38230700_38230701del, NC_000002.11:g.38230701_38230702insAATA

Select item 14914341205.

rs1491434120 has merged into rs1553372363 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC [Show Flanks]
Chromosome:: 2:37995375 (GRCh38)
2:38222518 (GRCh37)
Canonical SPDI:: NC_000002.12:37995364:ACACACACACAC:ACACACACAC,NC_000002.12:37995364:ACACACACACAC:ACACACACACACAC
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACAC=0.00062/10 (ALFA)
-=0.00004/1 (TOMMO)
-=0.00164/3 (Korea1K)
-=0.00667/4 (NorthernSweden)
HGVS:: NC_000002.12:g.37995365AC[5], NC_000002.12:g.37995365AC[7], NC_000002.11:g.38222508AC[5], NC_000002.11:g.38222508AC[7]

Select item 14913876656.

rs1491387665 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:37963318 (GRCh38)
2:38190462 (GRCh37)
Canonical SPDI:: NC_000002.12:37963318::A
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.37963318_37963319insA, NC_000002.11:g.38190461_38190462insA

Select item 14913853717.

rs1491385371 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 2:38041428 (GRCh38)
2:38268572 (GRCh37)
Canonical SPDI:: NC_000002.12:38041428::AA
Gene:: RMDN2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
AA=0.00011/2 (GnomAD)
HGVS:: NC_000002.12:g.38041428_38041429insAA, NC_000002.11:g.38268571_38268572insAA

Select item 14913411398.

rs1491341139 has merged into rs398060100 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTATTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:37965353 (GRCh38)
2:38192496 (GRCh37)
Canonical SPDI:: NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37965338:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.37965353_37965354del, NC_000002.12:g.37965354del, NC_000002.12:g.37965354dup, NC_000002.12:g.37965353_37965354dup, NC_000002.12:g.37965339_37965354T[22]ATTTTTTTTTTTTTTTTT[1], NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.37965339_37965354T[46]ATTTTTTTTTTTTTTTTT[1], NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.37965354_37965355insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.38192496_38192497del, NC_000002.11:g.38192497del, NC_000002.11:g.38192497dup, NC_000002.11:g.38192496_38192497dup, NC_000002.11:g.38192482_38192497T[22]ATTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.38192482_38192497T[46]ATTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.38192497_38192498insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14912480969.

rs1491248096 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:37984856 (GRCh38)
2:38211999 (GRCh37)
Canonical SPDI:: NC_000002.12:37984854:ATA:A
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.003288/39 (ALFA)
-=0.002513/42 (TOMMO)
-=0.0045/590 (GnomAD)
-=0.006558/42 (1000Genomes)
-=0.285571/285 (GoNL)
HGVS:: NC_000002.12:g.37984856_37984857del, NC_000002.11:g.38211999_38212000del

Select item 149123993010.

rs1491239930 has merged into rs1322997213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 2:38060071 (GRCh38)
2:38287214 (GRCh37)
Canonical SPDI:: NC_000002.12:38060068:TTTT:TT,NC_000002.12:38060068:TTTT:TTT
Gene:: RMDN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.38060071_38060072del, NC_000002.12:g.38060072del, NC_000002.11:g.38287214_38287215del, NC_000002.11:g.38287215del

Select item 149123754411.

rs1491237544 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:37968462 (GRCh38)
2:38195605 (GRCh37)
Canonical SPDI:: NC_000002.12:37968460:AGA:A
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.37968462_37968463del, NC_000002.11:g.38195605_38195606del

Select item 149123041112.

rs1491230411 has merged into rs55892088 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 2:37944344 (GRCh38)
2:38171487 (GRCh37)
Canonical SPDI:: NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:37944332:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: RMDN2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.106/531 (1000Genomes)
HGVS:: NC_000002.12:g.37944344_37944348del, NC_000002.12:g.37944345_37944348del, NC_000002.12:g.37944346_37944348del, NC_000002.12:g.37944347_37944348del, NC_000002.12:g.37944348del, NC_000002.12:g.37944348dup, NC_000002.12:g.37944347_37944348dup, NC_000002.12:g.37944346_37944348dup, NC_000002.12:g.37944343_37944348dup, NC_000002.11:g.38171487_38171491del, NC_000002.11:g.38171488_38171491del, NC_000002.11:g.38171489_38171491del, NC_000002.11:g.38171490_38171491del, NC_000002.11:g.38171491del, NC_000002.11:g.38171491dup, NC_000002.11:g.38171490_38171491dup, NC_000002.11:g.38171489_38171491dup, NC_000002.11:g.38171486_38171491dup

Select item 149121889413.

rs1491218894 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAG,TTAG [Show Flanks]
Chromosome:: 2:38003556 (GRCh38)
2:38230700 (GRCh37)
Canonical SPDI:: NC_000002.12:38003556:TAG:TAGGTAG,NC_000002.12:38003556:TAG:TAGTTAG
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAGTTAG=0./0 (ALFA)
TAGG=0.000038/5 (GnomAD)
HGVS:: NC_000002.12:g.38003559_38003560insGTAG, NC_000002.12:g.38003559_38003560insTTAG, NC_000002.11:g.38230702_38230703insGTAG, NC_000002.11:g.38230702_38230703insTTAG

Select item 149121391414.

rs1491213914 has merged into rs397812186 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:37990530 (GRCh38)
2:38217673 (GRCh37)
Canonical SPDI:: NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990518:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAA=0.025/1 (GENOME_DK)
HGVS:: NC_000002.12:g.37990530_37990543del, NC_000002.12:g.37990531_37990543del, NC_000002.12:g.37990532_37990543del, NC_000002.12:g.37990533_37990543del, NC_000002.12:g.37990534_37990543del, NC_000002.12:g.37990535_37990543del, NC_000002.12:g.37990536_37990543del, NC_000002.12:g.37990537_37990543del, NC_000002.12:g.37990538_37990543del, NC_000002.12:g.37990540_37990543del, NC_000002.12:g.37990541_37990543del, NC_000002.12:g.37990542_37990543del, NC_000002.12:g.37990543del, NC_000002.12:g.37990543dup, NC_000002.12:g.37990542_37990543dup, NC_000002.12:g.37990541_37990543dup, NC_000002.12:g.37990540_37990543dup, NC_000002.12:g.37990539_37990543dup, NC_000002.12:g.37990538_37990543dup, NC_000002.12:g.37990537_37990543dup, NC_000002.12:g.37990536_37990543dup, NC_000002.12:g.37990535_37990543dup, NC_000002.11:g.38217673_38217686del, NC_000002.11:g.38217674_38217686del, NC_000002.11:g.38217675_38217686del, NC_000002.11:g.38217676_38217686del, NC_000002.11:g.38217677_38217686del, NC_000002.11:g.38217678_38217686del, NC_000002.11:g.38217679_38217686del, NC_000002.11:g.38217680_38217686del, NC_000002.11:g.38217681_38217686del, NC_000002.11:g.38217683_38217686del, NC_000002.11:g.38217684_38217686del, NC_000002.11:g.38217685_38217686del, NC_000002.11:g.38217686del, NC_000002.11:g.38217686dup, NC_000002.11:g.38217685_38217686dup, NC_000002.11:g.38217684_38217686dup, NC_000002.11:g.38217683_38217686dup, NC_000002.11:g.38217682_38217686dup, NC_000002.11:g.38217681_38217686dup, NC_000002.11:g.38217680_38217686dup, NC_000002.11:g.38217679_38217686dup, NC_000002.11:g.38217678_38217686dup

Select item 149119301215.

rs1491193012 has merged into rs3057329 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:38041436 (GRCh38)
2:38268579 (GRCh37)
Canonical SPDI:: NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTT,NC_000002.12:38041427:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RMDN2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.420128/2104 (1000Genomes)
HGVS:: NC_000002.12:g.38041436_38041443del, NC_000002.12:g.38041439_38041443del, NC_000002.12:g.38041441_38041443del, NC_000002.12:g.38041442_38041443del, NC_000002.12:g.38041443del, NC_000002.12:g.38041443dup, NC_000002.12:g.38041442_38041443dup, NC_000002.12:g.38041441_38041443dup, NC_000002.12:g.38041428_38041443T[19]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041440_38041443dup, NC_000002.12:g.38041428_38041443T[20]GTT[2]T[18], NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[20]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041439_38041443dup, NC_000002.12:g.38041428_38041443T[21]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041438_38041443dup, NC_000002.12:g.38041428_38041443T[22]CTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[22]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041437_38041443dup, NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041436_38041443dup, NC_000002.12:g.38041435_38041443dup, NC_000002.12:g.38041428_38041443T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[25]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[25]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041434_38041443dup, NC_000002.12:g.38041433_38041443dup, NC_000002.12:g.38041443_38041444insTTTTTTTTTTTTTTTTT, NC_000002.12:g.38041428_38041443T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[37]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041428_38041443T[39]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.38041443_38041444insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.38268579_38268586del, NC_000002.11:g.38268582_38268586del, NC_000002.11:g.38268584_38268586del, NC_000002.11:g.38268585_38268586del, NC_000002.11:g.38268586del, NC_000002.11:g.38268586dup, NC_000002.11:g.38268585_38268586dup, NC_000002.11:g.38268584_38268586dup, NC_000002.11:g.38268571_38268586T[19]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268583_38268586dup, NC_000002.11:g.38268571_38268586T[20]GTT[2]T[18], NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[20]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268582_38268586dup, NC_000002.11:g.38268571_38268586T[21]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268581_38268586dup, NC_000002.11:g.38268571_38268586T[22]CTTTTTTTTTTTTATTTGTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[22]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268580_38268586dup, NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[23]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268579_38268586dup, NC_000002.11:g.38268578_38268586dup, NC_000002.11:g.38268571_38268586T[25]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[25]GTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[25]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268577_38268586dup, NC_000002.11:g.38268576_38268586dup, NC_000002.11:g.38268586_38268587insTTTTTTTTTTTTTTTTT, NC_000002.11:g.38268571_38268586T[35]ATTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[37]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268571_38268586T[39]GTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.38268586_38268587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149114136616.

rs1491141366 has merged into rs112425530 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:37989634 (GRCh38)
2:38216777 (GRCh37)
Canonical SPDI:: NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0.001445/32 (ALFA)
T=0.085674/22677 (TOPMED)
T=0.113712/68 (NorthernSweden)
T=0.123547/85 (1000Genomes)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000002.12:g.37989634_37989635del, NC_000002.12:g.37989635del, NC_000002.12:g.37989635dup, NC_000002.12:g.37989634_37989635dup, NC_000002.12:g.37989633_37989635dup, NC_000002.11:g.38216777_38216778del, NC_000002.11:g.38216778del, NC_000002.11:g.38216778dup, NC_000002.11:g.38216777_38216778dup, NC_000002.11:g.38216776_38216778dup

Select item 149113475717.

rs1491134757 has merged into rs60052181 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:37963327 (GRCh38)
2:38190470 (GRCh37)
Canonical SPDI:: NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:37963317:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.37963327_37963335del, NC_000002.12:g.37963329_37963335del, NC_000002.12:g.37963330_37963335del, NC_000002.12:g.37963331_37963335del, NC_000002.12:g.37963333_37963335del, NC_000002.12:g.37963334_37963335del, NC_000002.12:g.37963335del, NC_000002.12:g.37963335dup, NC_000002.12:g.37963334_37963335dup, NC_000002.12:g.37963333_37963335dup, NC_000002.12:g.37963332_37963335dup, NC_000002.12:g.37963331_37963335dup, NC_000002.12:g.37963330_37963335dup, NC_000002.12:g.37963329_37963335dup, NC_000002.12:g.37963328_37963335dup, NC_000002.12:g.37963327_37963335dup, NC_000002.12:g.37963326_37963335dup, NC_000002.11:g.38190470_38190478del, NC_000002.11:g.38190472_38190478del, NC_000002.11:g.38190473_38190478del, NC_000002.11:g.38190474_38190478del, NC_000002.11:g.38190476_38190478del, NC_000002.11:g.38190477_38190478del, NC_000002.11:g.38190478del, NC_000002.11:g.38190478dup, NC_000002.11:g.38190477_38190478dup, NC_000002.11:g.38190476_38190478dup, NC_000002.11:g.38190475_38190478dup, NC_000002.11:g.38190474_38190478dup, NC_000002.11:g.38190473_38190478dup, NC_000002.11:g.38190472_38190478dup, NC_000002.11:g.38190471_38190478dup, NC_000002.11:g.38190470_38190478dup, NC_000002.11:g.38190469_38190478dup

Select item 149110203818.

rs1491102038 has merged into rs71400335 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:37990159 (GRCh38)
2:38217302 (GRCh37)
Canonical SPDI:: NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:37990142:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.37990159_37990162del, NC_000002.12:g.37990160_37990162del, NC_000002.12:g.37990161_37990162del, NC_000002.12:g.37990162del, NC_000002.12:g.37990162dup, NC_000002.12:g.37990161_37990162dup, NC_000002.12:g.37990160_37990162dup, NC_000002.11:g.38217302_38217305del, NC_000002.11:g.38217303_38217305del, NC_000002.11:g.38217304_38217305del, NC_000002.11:g.38217305del, NC_000002.11:g.38217305dup, NC_000002.11:g.38217304_38217305dup, NC_000002.11:g.38217303_38217305dup

Select item 149103647319.

rs1491036473 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 2:38029811 (GRCh38)
2:38256954 (GRCh37)
Canonical SPDI:: NC_000002.12:38029809:CAC:C
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.38029811_38029812del, NC_000002.11:g.38256954_38256955del

Select item 149103102520.

rs1491031025 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:37963336 (GRCh38)
2:38190479 (GRCh37)
Canonical SPDI:: NC_000002.12:37963335:AA:
Gene:: RMDN2 (Varview), RMDN2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00025/3 (ALFA)
-=0.02473/14 (NorthernSweden)
HGVS:: NC_000002.12:g.37963336_37963337del, NC_000002.11:g.38190479_38190480del

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