SNP Links for Gene (Select 60437) - SNP

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Select item 14915782131.

rs1491578213 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCT [Show Flanks]
Chromosome:: 20:59986659 (GRCh38)
20:58561715 (GRCh37)
Canonical SPDI:: NC_000020.11:59986659::GCT
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GCT=0./0 (ALFA)
GCT=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.59986659_59986660insGCT, NC_000020.10:g.58561714_58561715insGCT

Select item 14915442982.

rs1491544298 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCT [Show Flanks]
Chromosome:: 20:59967915 (GRCh38)
20:58542971 (GRCh37)
Canonical SPDI:: NC_000020.11:59967915:T:TCCT
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TCC=0.0008/13 (TOMMO)
HGVS:: NC_000020.11:g.59967916_59967917insCCT, NC_000020.10:g.58542971_58542972insCCT

Select item 14915139803.

rs1491513980 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 20:59977544 (GRCh38)
20:58552599 (GRCh37)
Canonical SPDI:: NC_000020.11:59977543:AA:
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.000051/7 (GnomAD)
HGVS:: NC_000020.11:g.59977544_59977545del, NC_000020.10:g.58552599_58552600del

Select item 14915086384.

rs1491508638 has merged into rs924037162 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:59989546 (GRCh38)
20:58564601 (GRCh37)
Canonical SPDI:: NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:59989534:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDH26 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000159/42 (TOPMED)
HGVS:: NC_000020.11:g.59989546_59989553del, NC_000020.11:g.59989548_59989553del, NC_000020.11:g.59989550_59989553del, NC_000020.11:g.59989551_59989553del, NC_000020.11:g.59989552_59989553del, NC_000020.11:g.59989553del, NC_000020.11:g.59989553dup, NC_000020.11:g.59989552_59989553dup, NC_000020.11:g.59989551_59989553dup, NC_000020.11:g.59989550_59989553dup, NC_000020.11:g.59989549_59989553dup, NC_000020.11:g.59989548_59989553dup, NC_000020.10:g.58564601_58564608del, NC_000020.10:g.58564603_58564608del, NC_000020.10:g.58564605_58564608del, NC_000020.10:g.58564606_58564608del, NC_000020.10:g.58564607_58564608del, NC_000020.10:g.58564608del, NC_000020.10:g.58564608dup, NC_000020.10:g.58564607_58564608dup, NC_000020.10:g.58564606_58564608dup, NC_000020.10:g.58564605_58564608dup, NC_000020.10:g.58564604_58564608dup, NC_000020.10:g.58564603_58564608dup

Select item 14914802995.

rs1491480299 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT,TTT [Show Flanks]
Chromosome:: 20:59967933 (GRCh38)
20:58542989 (GRCh37)
Canonical SPDI:: NC_000020.11:59967933::TT,NC_000020.11:59967933::TTT
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TTT=0.000046/5 (GnomAD)
TT=0.000049/1 (TOMMO)
HGVS:: NC_000020.11:g.59967933_59967934insTT, NC_000020.11:g.59967933_59967934insTTT, NC_000020.10:g.58542988_58542989insTT, NC_000020.10:g.58542988_58542989insTTT

Select item 14914328126.

rs1491432812 has merged into rs60922926 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAGAGAGAGAGAGAGAGAG>-,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG [Show Flanks]
Chromosome:: 20:60026407 (GRCh38)
20:58601462 (GRCh37)
Canonical SPDI:: NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000020.11:60026390:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG
Gene:: CDH26 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAG=0./0 (ALFA)
AGAGAG=0.2899/1452 (1000Genomes)
-=0.4367/1683 (ALSPAC)
HGVS:: NC_000020.11:g.60026391AG[8], NC_000020.11:g.60026391AG[10], NC_000020.11:g.60026391AG[11], NC_000020.11:g.60026391AG[12], NC_000020.11:g.60026391AG[13], NC_000020.11:g.60026391AG[14], NC_000020.11:g.60026391AG[15], NC_000020.11:g.60026391AG[16], NC_000020.11:g.60026391AG[17], NC_000020.11:g.60026391AG[19], NC_000020.11:g.60026391AG[20], NC_000020.11:g.60026391AG[21], NC_000020.11:g.60026391AG[22], NC_000020.11:g.60026391AG[23], NC_000020.11:g.60026391AG[24], NC_000020.11:g.60026391AG[25], NC_000020.11:g.60026391AG[26], NC_000020.11:g.60026391AG[27], NC_000020.11:g.60026391AG[28], NC_000020.11:g.60026391AG[29], NC_000020.11:g.60026391AG[30], NC_000020.11:g.60026391AG[31], NC_000020.11:g.60026391AG[34], NC_000020.10:g.58601446AG[8], NC_000020.10:g.58601446AG[10], NC_000020.10:g.58601446AG[11], NC_000020.10:g.58601446AG[12], NC_000020.10:g.58601446AG[13], NC_000020.10:g.58601446AG[14], NC_000020.10:g.58601446AG[15], NC_000020.10:g.58601446AG[16], NC_000020.10:g.58601446AG[17], NC_000020.10:g.58601446AG[19], NC_000020.10:g.58601446AG[20], NC_000020.10:g.58601446AG[21], NC_000020.10:g.58601446AG[22], NC_000020.10:g.58601446AG[23], NC_000020.10:g.58601446AG[24], NC_000020.10:g.58601446AG[25], NC_000020.10:g.58601446AG[26], NC_000020.10:g.58601446AG[27], NC_000020.10:g.58601446AG[28], NC_000020.10:g.58601446AG[29], NC_000020.10:g.58601446AG[30], NC_000020.10:g.58601446AG[31], NC_000020.10:g.58601446AG[34]

Select item 14914150937.

rs1491415093 has merged into rs1463816135 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 20:59967911 (GRCh38)
20:58542966 (GRCh37)
Canonical SPDI:: NC_000020.11:59967909:TTT:T,NC_000020.11:59967909:TTT:TT
Gene:: CDH26 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00402/362 (GnomAD)
-=0.01213/200 (TOMMO)
HGVS:: NC_000020.11:g.59967911_59967912del, NC_000020.11:g.59967912del, NC_000020.10:g.58542966_58542967del, NC_000020.10:g.58542967del

Select item 14913959618.

rs1491395961 [Homo sapiens]

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

Select item 14913892579.

rs1491389257 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:59989534 (GRCh38)
20:58564589 (GRCh37)
Canonical SPDI:: NC_000020.11:59989533:CA:
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.59989534_59989535del, NC_000020.10:g.58564589_58564590del

Select item 149138229610.

rs1491382296 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTC [Show Flanks]
Chromosome:: 20:59967858 (GRCh38)
20:58542914 (GRCh37)
Canonical SPDI:: NC_000020.11:59967858:TTC:TTCCTTC
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: TTCC=0.000029/3 (GnomAD)
HGVS:: NC_000020.11:g.59967861_59967862insCTTC, NC_000020.10:g.58542916_58542917insCTTC

Select item 149136332511.

rs1491363325 has merged into rs548400785 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:59979210 (GRCh38)
20:58554265 (GRCh37)
Canonical SPDI:: NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:59979198:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CDH26 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.59979210_59979217del, NC_000020.11:g.59979214_59979217del, NC_000020.11:g.59979216_59979217del, NC_000020.11:g.59979217del, NC_000020.11:g.59979217dup, NC_000020.11:g.59979216_59979217dup, NC_000020.11:g.59979215_59979217dup, NC_000020.11:g.59979214_59979217dup, NC_000020.11:g.59979213_59979217dup, NC_000020.11:g.59979211_59979217dup, NC_000020.11:g.59979217_59979218insTTTTTTTTTTTTTTTTTTTTT, NC_000020.11:g.59979217_59979218insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.58554265_58554272del, NC_000020.10:g.58554269_58554272del, NC_000020.10:g.58554271_58554272del, NC_000020.10:g.58554272del, NC_000020.10:g.58554272dup, NC_000020.10:g.58554271_58554272dup, NC_000020.10:g.58554270_58554272dup, NC_000020.10:g.58554269_58554272dup, NC_000020.10:g.58554268_58554272dup, NC_000020.10:g.58554266_58554272dup, NC_000020.10:g.58554272_58554273insTTTTTTTTTTTTTTTTTTTTT, NC_000020.10:g.58554272_58554273insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149136071412.

rs1491360714 has merged into rs1207823289 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: 20:59967867 (GRCh38)
20:58542922 (GRCh37)
Canonical SPDI:: NC_000020.11:59967865:TTT:T,NC_000020.11:59967865:TTT:TT,NC_000020.11:59967865:TTT:TTTT,NC_000020.11:59967865:TTT:TTTTT
Gene:: CDH26 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.010067/6 (NorthernSweden)
-=0.019632/322 (TOMMO)
HGVS:: NC_000020.11:g.59967867_59967868del, NC_000020.11:g.59967868del, NC_000020.11:g.59967868dup, NC_000020.11:g.59967867_59967868dup, NC_000020.10:g.58542922_58542923del, NC_000020.10:g.58542923del, NC_000020.10:g.58542923dup, NC_000020.10:g.58542922_58542923dup

Select item 149135068113.

rs1491350681 has merged into rs1315479146 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCTTCCTTCCTTCCTT>-,CCTT,CCTTCCTT,CCTTCCTTCCTT,CCTTCCTTCCTTCCTTCCTT,CCTTCCTTCCTTCCTTCCTTCCTT,CCTTCCTTCCTTCCTTCCTTCCTTCCTT [Show Flanks]
Chromosome:: 20:59967896 (GRCh38)
20:58542951 (GRCh37)
Canonical SPDI:: NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTT,NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTTCCTT,NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTTCCTTCCTT,NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT,NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT,NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT,NC_000020.11:59967876:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT:CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTCCTTCCTTCCTTCCTTCCTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.59967880CCTT[4], NC_000020.11:g.59967880CCTT[5], NC_000020.11:g.59967880CCTT[6], NC_000020.11:g.59967880CCTT[7], NC_000020.11:g.59967880CCTT[9], NC_000020.11:g.59967880CCTT[10], NC_000020.11:g.59967880CCTT[11], NC_000020.10:g.58542935CCTT[4], NC_000020.10:g.58542935CCTT[5], NC_000020.10:g.58542935CCTT[6], NC_000020.10:g.58542935CCTT[7], NC_000020.10:g.58542935CCTT[9], NC_000020.10:g.58542935CCTT[10], NC_000020.10:g.58542935CCTT[11]

Select item 149133452714.

rs1491334527 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 20:59967927 (GRCh38)
20:58542982 (GRCh37)
Canonical SPDI:: NC_000020.11:59967926:TC:
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000020.11:g.59967927_59967928del, NC_000020.10:g.58542982_58542983del

Select item 149132737215.

rs1491327372 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 20:59967866 (GRCh38)
20:58542922 (GRCh37)
Canonical SPDI:: NC_000020.11:59967866::C
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.00001/1 (GnomAD)
HGVS:: NC_000020.11:g.59967866_59967867insC, NC_000020.10:g.58542921_58542922insC

Select item 149131371016.

rs1491313710 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 20:59967819 (GRCh38)
20:58542874 (GRCh37)
Canonical SPDI:: NC_000020.11:59967817:TTT:T,NC_000020.11:59967817:TTT:TTTTT
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000125/2 (GnomAD)
HGVS:: NC_000020.11:g.59967819_59967820del, NC_000020.11:g.59967819_59967820dup, NC_000020.10:g.58542874_58542875del, NC_000020.10:g.58542874_58542875dup

Select item 149128775717.

rs1491287757 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 20:59956802 (GRCh38)
20:58531857 (GRCh37)
Canonical SPDI:: NC_000020.11:59956795:ATATATAT:ATATAT,NC_000020.11:59956795:ATATATAT:ATATATATAT
Gene:: CDH26 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0.00025/3 (ALFA)
HGVS:: NC_000020.11:g.59956796AT[3], NC_000020.11:g.59956796AT[5], NC_000020.10:g.58531851AT[3], NC_000020.10:g.58531851AT[5]

Select item 149125402318.

rs1491254023 has merged into rs1351140168 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 20:59967877 (GRCh38)
20:58542932 (GRCh37)
Canonical SPDI:: NC_000020.11:59967875:TCT:T,NC_000020.11:59967875:TCT:TCTCTCTCTCTCTCT
Gene:: CDH26 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCTCTCTCTCTCTCT=0./0 (ALFA)
HGVS:: NC_000020.11:g.59967877_59967878del, NC_000020.11:g.59967877CT[7], NC_000020.10:g.58542932_58542933del, NC_000020.10:g.58542932CT[7]

Select item 149125326419.

rs1491253264 has merged into rs755532164 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 20:59956945 (GRCh38)
20:58532000 (GRCh37)
Canonical SPDI:: NC_000020.11:59956938:TATATATA:TATATA,NC_000020.11:59956938:TATATATA:TATATATATA
Gene:: CDH26 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
-=0.000016/2 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.59956939TA[3], NC_000020.11:g.59956939TA[5], NC_000020.10:g.58531994TA[3], NC_000020.10:g.58531994TA[5]

Select item 149125016020.

rs1491250160 has merged into rs1439804489 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 20:59967916 (GRCh38)
20:58542971 (GRCh37)
Canonical SPDI:: NC_000020.11:59967914:TTT:T,NC_000020.11:59967914:TTT:TT
Gene:: CDH26 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00248/41 (TOMMO)
HGVS:: NC_000020.11:g.59967916_59967917del, NC_000020.11:g.59967917del, NC_000020.10:g.58542971_58542972del, NC_000020.10:g.58542972del

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