SNP Links for Gene (Select 441549) - SNP

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Select item 14915832831.

rs1491583283 has merged into rs3830599 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTTT,TTTTT,TTTTTTT [Show Flanks]
Chromosome:: 10:14840066 (GRCh38)
10:14882065 (GRCh37)
Canonical SPDI:: NC_000010.11:14840061:TTTTTTTTTT:TTTT,NC_000010.11:14840061:TTTTTTTTTT:TTTTTT,NC_000010.11:14840061:TTTTTTTTTT:TTTTTTTT,NC_000010.11:14840061:TTTTTTTTTT:TTTTTTTTT,NC_000010.11:14840061:TTTTTTTTTT:TTTTTTTTTTT
Gene:: HSPA14 (Varview), LOC100421372 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
-=0.25971/963 (TWINSUK)
-=0.25999/1002 (ALSPAC)
-=0.27167/163 (NorthernSweden)
HGVS:: NC_000010.11:g.14840066_14840071del, NC_000010.11:g.14840068_14840071del, NC_000010.11:g.14840070_14840071del, NC_000010.11:g.14840071del, NC_000010.11:g.14840071dup, NC_000010.10:g.14882065_14882070del, NC_000010.10:g.14882067_14882070del, NC_000010.10:g.14882069_14882070del, NC_000010.10:g.14882070del, NC_000010.10:g.14882070dup

Select item 14915175922.

rs1491517592 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:14840041 (GRCh38)
10:14882040 (GRCh37)
Canonical SPDI:: NC_000010.11:14840040:AA:
Gene:: HSPA14 (Varview), LOC100421372 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000261/6 (ALFA)
-=0.000047/6 (GnomAD)
-=0.000156/1 (1000Genomes)
-=0.000553/31 (ExAC)
HGVS:: NC_000010.11:g.14840041_14840042del, NC_000010.10:g.14882040_14882041del

Select item 14914758763.

rs1491475876 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 10:14826023 (GRCh38)
10:14868022 (GRCh37)
Canonical SPDI:: NC_000010.11:14826022:AA:
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000062/7 (GnomAD)
-=0.002738/45 (TOMMO)
-=0.004956/9 (Korea1K)
HGVS:: NC_000010.11:g.14826023_14826024del, NC_000010.10:g.14868022_14868023del

Select item 14914415374.

rs1491441537 has merged into rs765449342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 10:14831589 (GRCh38)
10:14873588 (GRCh37)
Canonical SPDI:: NC_000010.11:14831582:TTTTTTTT:TTTTTT,NC_000010.11:14831582:TTTTTTTT:TTTTTTT,NC_000010.11:14831582:TTTTTTTT:TTTTTTTTT,NC_000010.11:14831582:TTTTTTTT:TTTTTTTTTT,NC_000010.11:14831582:TTTTTTTT:TTTTTTTTTTT
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000010.11:g.14831589_14831590del, NC_000010.11:g.14831590del, NC_000010.11:g.14831590dup, NC_000010.11:g.14831589_14831590dup, NC_000010.11:g.14831588_14831590dup, NC_000010.10:g.14873588_14873589del, NC_000010.10:g.14873589del, NC_000010.10:g.14873589dup, NC_000010.10:g.14873588_14873589dup, NC_000010.10:g.14873587_14873589dup

Select item 14914320445.

rs1491432044 has merged into rs34308438 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:14827063 (GRCh38)
10:14869062 (GRCh37)
Canonical SPDI:: NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.14827063_14827077del, NC_000010.11:g.14827065_14827077del, NC_000010.11:g.14827066_14827077del, NC_000010.11:g.14827068_14827077del, NC_000010.11:g.14827069_14827077del, NC_000010.11:g.14827070_14827077del, NC_000010.11:g.14827071_14827077del, NC_000010.11:g.14827072_14827077del, NC_000010.11:g.14827073_14827077del, NC_000010.11:g.14827074_14827077del, NC_000010.11:g.14827076_14827077del, NC_000010.11:g.14827077del, NC_000010.11:g.14827077dup, NC_000010.11:g.14827076_14827077dup, NC_000010.11:g.14827075_14827077dup, NC_000010.11:g.14827074_14827077dup, NC_000010.11:g.14827073_14827077dup, NC_000010.11:g.14827072_14827077dup, NC_000010.11:g.14827071_14827077dup, NC_000010.11:g.14827070_14827077dup, NC_000010.11:g.14827069_14827077dup, NC_000010.11:g.14827068_14827077dup, NC_000010.11:g.14827067_14827077dup, NC_000010.11:g.14827066_14827077dup, NC_000010.11:g.14827077_14827078insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.14869062_14869076del, NC_000010.10:g.14869064_14869076del, NC_000010.10:g.14869065_14869076del, NC_000010.10:g.14869067_14869076del, NC_000010.10:g.14869068_14869076del, NC_000010.10:g.14869069_14869076del, NC_000010.10:g.14869070_14869076del, NC_000010.10:g.14869071_14869076del, NC_000010.10:g.14869072_14869076del, NC_000010.10:g.14869073_14869076del, NC_000010.10:g.14869075_14869076del, NC_000010.10:g.14869076del, NC_000010.10:g.14869076dup, NC_000010.10:g.14869075_14869076dup, NC_000010.10:g.14869074_14869076dup, NC_000010.10:g.14869073_14869076dup, NC_000010.10:g.14869072_14869076dup, NC_000010.10:g.14869071_14869076dup, NC_000010.10:g.14869070_14869076dup, NC_000010.10:g.14869069_14869076dup, NC_000010.10:g.14869068_14869076dup, NC_000010.10:g.14869067_14869076dup, NC_000010.10:g.14869066_14869076dup, NC_000010.10:g.14869065_14869076dup, NC_000010.10:g.14869076_14869077insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912508196.

rs1491250819 has merged into rs1309070905 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAAG>-,GAGAAGGAGAAG [Show Flanks]
Chromosome:: 10:14826029 (GRCh38)
10:14868028 (GRCh37)
Canonical SPDI:: NC_000010.11:14826023:AGAAGGAGAAG:AGAAG,NC_000010.11:14826023:AGAAGGAGAAG:AGAAGGAGAAGGAGAAG
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAG=0.00031/5 (ALFA)
-=0.00606/11 (Korea1K)
-=0.01557/258 (TOMMO)
HGVS:: NC_000010.11:g.14826029_14826034del, NC_000010.11:g.14826029_14826034dup, NC_000010.10:g.14868028_14868033del, NC_000010.10:g.14868028_14868033dup

Select item 14912223287.

rs1491222328 has merged into rs34308438 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:14827063 (GRCh38)
10:14869062 (GRCh37)
Canonical SPDI:: NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.14827063_14827077del, NC_000010.11:g.14827065_14827077del, NC_000010.11:g.14827066_14827077del, NC_000010.11:g.14827068_14827077del, NC_000010.11:g.14827069_14827077del, NC_000010.11:g.14827070_14827077del, NC_000010.11:g.14827071_14827077del, NC_000010.11:g.14827072_14827077del, NC_000010.11:g.14827073_14827077del, NC_000010.11:g.14827074_14827077del, NC_000010.11:g.14827076_14827077del, NC_000010.11:g.14827077del, NC_000010.11:g.14827077dup, NC_000010.11:g.14827076_14827077dup, NC_000010.11:g.14827075_14827077dup, NC_000010.11:g.14827074_14827077dup, NC_000010.11:g.14827073_14827077dup, NC_000010.11:g.14827072_14827077dup, NC_000010.11:g.14827071_14827077dup, NC_000010.11:g.14827070_14827077dup, NC_000010.11:g.14827069_14827077dup, NC_000010.11:g.14827068_14827077dup, NC_000010.11:g.14827067_14827077dup, NC_000010.11:g.14827066_14827077dup, NC_000010.11:g.14827077_14827078insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.14869062_14869076del, NC_000010.10:g.14869064_14869076del, NC_000010.10:g.14869065_14869076del, NC_000010.10:g.14869067_14869076del, NC_000010.10:g.14869068_14869076del, NC_000010.10:g.14869069_14869076del, NC_000010.10:g.14869070_14869076del, NC_000010.10:g.14869071_14869076del, NC_000010.10:g.14869072_14869076del, NC_000010.10:g.14869073_14869076del, NC_000010.10:g.14869075_14869076del, NC_000010.10:g.14869076del, NC_000010.10:g.14869076dup, NC_000010.10:g.14869075_14869076dup, NC_000010.10:g.14869074_14869076dup, NC_000010.10:g.14869073_14869076dup, NC_000010.10:g.14869072_14869076dup, NC_000010.10:g.14869071_14869076dup, NC_000010.10:g.14869070_14869076dup, NC_000010.10:g.14869069_14869076dup, NC_000010.10:g.14869068_14869076dup, NC_000010.10:g.14869067_14869076dup, NC_000010.10:g.14869066_14869076dup, NC_000010.10:g.14869065_14869076dup, NC_000010.10:g.14869076_14869077insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910930878.

rs1491093087 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,G [Show Flanks]
Chromosome:: 10:14831583 (GRCh38)
10:14873583 (GRCh37)
Canonical SPDI:: NC_000010.11:14831583::A,NC_000010.11:14831583::ATA,NC_000010.11:14831583::G
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.004191/576 (GnomAD)
A=0.011667/7 (NorthernSweden)
HGVS:: NC_000010.11:g.14831583_14831584insA, NC_000010.11:g.14831583_14831584insATA, NC_000010.11:g.14831583_14831584insG, NC_000010.10:g.14873582_14873583insA, NC_000010.10:g.14873582_14873583insATA, NC_000010.10:g.14873582_14873583insG

Select item 14910455619.

rs1491045561 [Homo sapiens]

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

Select item 149075662310.

rs1490756623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14836121 (GRCh38)
10:14878120 (GRCh37)
Canonical SPDI:: NC_000010.11:14836120:T:C
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.14836121T>C, NC_000010.10:g.14878120T>C

Select item 149069728011.

rs1490697280 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14823200 (GRCh38)
10:14865199 (GRCh37)
Canonical SPDI:: NC_000010.11:14823199:T:C
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14823200T>C, NC_000010.10:g.14865199T>C

Select item 149055921812.

rs1490559218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:14835514 (GRCh38)
10:14877513 (GRCh37)
Canonical SPDI:: NC_000010.11:14835513:G:T
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14835514G>T, NC_000010.10:g.14877513G>T

Select item 149014402413.

rs1490144024 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT [Show Flanks]
Chromosome:: 10:14828478 (GRCh38)
10:14870477 (GRCh37)
Canonical SPDI:: NC_000010.11:14828473:CTCTCTCT:CTCT,NC_000010.11:14828473:CTCTCTCT:CTCTCT
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.14828474CT[2], NC_000010.11:g.14828474CT[3], NC_000010.10:g.14870473CT[2], NC_000010.10:g.14870473CT[3]

Select item 148964317314.

rs1489643173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:14824112 (GRCh38)
10:14866111 (GRCh37)
Canonical SPDI:: NC_000010.11:14824111:T:C
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14824112T>C, NC_000010.10:g.14866111T>C

Select item 148959127815.

rs1489591278 has merged into rs34308438 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:14827063 (GRCh38)
10:14869062 (GRCh37)
Canonical SPDI:: NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:14827052:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.14827063_14827077del, NC_000010.11:g.14827065_14827077del, NC_000010.11:g.14827066_14827077del, NC_000010.11:g.14827068_14827077del, NC_000010.11:g.14827069_14827077del, NC_000010.11:g.14827070_14827077del, NC_000010.11:g.14827071_14827077del, NC_000010.11:g.14827072_14827077del, NC_000010.11:g.14827073_14827077del, NC_000010.11:g.14827074_14827077del, NC_000010.11:g.14827076_14827077del, NC_000010.11:g.14827077del, NC_000010.11:g.14827077dup, NC_000010.11:g.14827076_14827077dup, NC_000010.11:g.14827075_14827077dup, NC_000010.11:g.14827074_14827077dup, NC_000010.11:g.14827073_14827077dup, NC_000010.11:g.14827072_14827077dup, NC_000010.11:g.14827071_14827077dup, NC_000010.11:g.14827070_14827077dup, NC_000010.11:g.14827069_14827077dup, NC_000010.11:g.14827068_14827077dup, NC_000010.11:g.14827067_14827077dup, NC_000010.11:g.14827066_14827077dup, NC_000010.11:g.14827077_14827078insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.14869062_14869076del, NC_000010.10:g.14869064_14869076del, NC_000010.10:g.14869065_14869076del, NC_000010.10:g.14869067_14869076del, NC_000010.10:g.14869068_14869076del, NC_000010.10:g.14869069_14869076del, NC_000010.10:g.14869070_14869076del, NC_000010.10:g.14869071_14869076del, NC_000010.10:g.14869072_14869076del, NC_000010.10:g.14869073_14869076del, NC_000010.10:g.14869075_14869076del, NC_000010.10:g.14869076del, NC_000010.10:g.14869076dup, NC_000010.10:g.14869075_14869076dup, NC_000010.10:g.14869074_14869076dup, NC_000010.10:g.14869073_14869076dup, NC_000010.10:g.14869072_14869076dup, NC_000010.10:g.14869071_14869076dup, NC_000010.10:g.14869070_14869076dup, NC_000010.10:g.14869069_14869076dup, NC_000010.10:g.14869068_14869076dup, NC_000010.10:g.14869067_14869076dup, NC_000010.10:g.14869066_14869076dup, NC_000010.10:g.14869065_14869076dup, NC_000010.10:g.14869076_14869077insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 148949578416.

rs1489495784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:14838281 (GRCh38)
10:14880280 (GRCh37)
Canonical SPDI:: NC_000010.11:14838280:C:T
Gene:: HSPA14 (Varview), CDNF (Varview), LOC100421372 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.14838281C>T, NC_000010.10:g.14880280C>T, NM_016299.3:c.-122C>T, NR_103464.1:n.122C>T, NM_001037538.1:c.-122C>T, NM_001278205.1:c.-122C>T

Select item 148942965417.

rs1489429654 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:14825440 (GRCh38)
10:14867439 (GRCh37)
Canonical SPDI:: NC_000010.11:14825439:C:T
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.14825440C>T, NC_000010.10:g.14867439C>T

Select item 148942906718.

rs1489429067 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:14838063 (GRCh38)
10:14880062 (GRCh37)
Canonical SPDI:: NC_000010.11:14838062:A:T
Gene:: HSPA14 (Varview), CDNF (Varview), LOC100421372 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14838063A>T, NC_000010.10:g.14880062A>T

Select item 148919447919.

rs1489194479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:14834060 (GRCh38)
10:14876059 (GRCh37)
Canonical SPDI:: NC_000010.11:14834059:G:C,NC_000010.11:14834059:G:T
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.14834060G>C, NC_000010.11:g.14834060G>T, NC_000010.10:g.14876059G>C, NC_000010.10:g.14876059G>T

Select item 148902365620.

rs1489023656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:14832909 (GRCh38)
10:14874908 (GRCh37)
Canonical SPDI:: NC_000010.11:14832908:G:C
Gene:: CDNF (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000094/1 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000010.11:g.14832909G>C, NC_000010.10:g.14874908G>C

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