SNP Links for Gene (Select 3281) - SNP

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Select item 14914817971.

rs1491481797 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:83809463 (GRCh38)
16:83843069 (GRCh37)
Canonical SPDI:: NC_000016.10:83809463:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTT
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000016.10:g.83809464_83809485T[30]GTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.83843069_83843090T[30]GTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914331282.

rs1491433128 has merged into rs34926290 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:83806012 (GRCh38)
16:83839617 (GRCh37)
Canonical SPDI:: NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83806002:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.83806012_83806026del, NC_000016.10:g.83806013_83806026del, NC_000016.10:g.83806014_83806026del, NC_000016.10:g.83806015_83806026del, NC_000016.10:g.83806016_83806026del, NC_000016.10:g.83806017_83806026del, NC_000016.10:g.83806018_83806026del, NC_000016.10:g.83806019_83806026del, NC_000016.10:g.83806020_83806026del, NC_000016.10:g.83806021_83806026del, NC_000016.10:g.83806022_83806026del, NC_000016.10:g.83806023_83806026del, NC_000016.10:g.83806024_83806026del, NC_000016.10:g.83806025_83806026del, NC_000016.10:g.83806026del, NC_000016.10:g.83806026dup, NC_000016.10:g.83806025_83806026dup, NC_000016.10:g.83806024_83806026dup, NC_000016.10:g.83806023_83806026dup, NC_000016.10:g.83806022_83806026dup, NC_000016.10:g.83806021_83806026dup, NC_000016.10:g.83806020_83806026dup, NC_000016.10:g.83806019_83806026dup, NC_000016.10:g.83806018_83806026dup, NC_000016.10:g.83806013_83806026dup, NC_000016.9:g.83839617_83839631del, NC_000016.9:g.83839618_83839631del, NC_000016.9:g.83839619_83839631del, NC_000016.9:g.83839620_83839631del, NC_000016.9:g.83839621_83839631del, NC_000016.9:g.83839622_83839631del, NC_000016.9:g.83839623_83839631del, NC_000016.9:g.83839624_83839631del, NC_000016.9:g.83839625_83839631del, NC_000016.9:g.83839626_83839631del, NC_000016.9:g.83839627_83839631del, NC_000016.9:g.83839628_83839631del, NC_000016.9:g.83839629_83839631del, NC_000016.9:g.83839630_83839631del, NC_000016.9:g.83839631del, NC_000016.9:g.83839631dup, NC_000016.9:g.83839630_83839631dup, NC_000016.9:g.83839629_83839631dup, NC_000016.9:g.83839628_83839631dup, NC_000016.9:g.83839627_83839631dup, NC_000016.9:g.83839626_83839631dup, NC_000016.9:g.83839625_83839631dup, NC_000016.9:g.83839624_83839631dup, NC_000016.9:g.83839623_83839631dup, NC_000016.9:g.83839618_83839631dup

Select item 14913827733.

rs1491382773 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:83806002 (GRCh38)
16:83839607 (GRCh37)
Canonical SPDI:: NC_000016.10:83806001:CA:
Gene:: HSBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000016.10:g.83806002_83806003del, NC_000016.9:g.83839607_83839608del

Select item 14911894984.

rs1491189498 has merged into rs751338141 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:83810534 (GRCh38)
16:83844139 (GRCh37)
Canonical SPDI:: NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:83810521:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000049/13 (TOPMED)
HGVS:: NC_000016.10:g.83810534_83810544del, NC_000016.10:g.83810535_83810544del, NC_000016.10:g.83810536_83810544del, NC_000016.10:g.83810537_83810544del, NC_000016.10:g.83810538_83810544del, NC_000016.10:g.83810539_83810544del, NC_000016.10:g.83810540_83810544del, NC_000016.10:g.83810541_83810544del, NC_000016.10:g.83810542_83810544del, NC_000016.10:g.83810543_83810544del, NC_000016.10:g.83810544del, NC_000016.10:g.83810544dup, NC_000016.10:g.83810543_83810544dup, NC_000016.10:g.83810542_83810544dup, NC_000016.10:g.83810541_83810544dup, NC_000016.10:g.83810540_83810544dup, NC_000016.10:g.83810539_83810544dup, NC_000016.10:g.83810538_83810544dup, NC_000016.10:g.83810531_83810544dup, NC_000016.10:g.83810528_83810544dup, NC_000016.9:g.83844139_83844149del, NC_000016.9:g.83844140_83844149del, NC_000016.9:g.83844141_83844149del, NC_000016.9:g.83844142_83844149del, NC_000016.9:g.83844143_83844149del, NC_000016.9:g.83844144_83844149del, NC_000016.9:g.83844145_83844149del, NC_000016.9:g.83844146_83844149del, NC_000016.9:g.83844147_83844149del, NC_000016.9:g.83844148_83844149del, NC_000016.9:g.83844149del, NC_000016.9:g.83844149dup, NC_000016.9:g.83844148_83844149dup, NC_000016.9:g.83844147_83844149dup, NC_000016.9:g.83844146_83844149dup, NC_000016.9:g.83844145_83844149dup, NC_000016.9:g.83844144_83844149dup, NC_000016.9:g.83844143_83844149dup, NC_000016.9:g.83844136_83844149dup, NC_000016.9:g.83844133_83844149dup

Select item 14911120175.

rs1491112017 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:83809441 (GRCh38)
16:83843046 (GRCh37)
Canonical SPDI:: NC_000016.10:83809440:AT:
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000009/1 (GnomAD_exomes)
-=0.000031/1 (ExAC)
HGVS:: NC_000016.10:g.83809441_83809442del, NC_000016.9:g.83843046_83843047del

Select item 14911069406.

rs1491106940 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:83810522 (GRCh38)
16:83844128 (GRCh37)
Canonical SPDI:: NC_000016.10:83810522::G
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.83810522_83810523insG, NC_000016.9:g.83844127_83844128insG

Select item 14909249677.

rs1490924967 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:83807021 (GRCh38)
16:83840626 (GRCh37)
Canonical SPDI:: NC_000016.10:83807020:G:C
Gene:: HSBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.83807021G>C, NC_000016.9:g.83840626G>C

Select item 14902595128.

rs1490259512 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83808521 (GRCh38)
16:83842126 (GRCh37)
Canonical SPDI:: NC_000016.10:83808520:A:G
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000016.10:g.83808521A>G, NC_000016.9:g.83842126A>G

Select item 14899447039.

rs1489944703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83808405 (GRCh38)
16:83842010 (GRCh37)
Canonical SPDI:: NC_000016.10:83808404:G:A
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.83808405G>A, NC_000016.9:g.83842010G>A

Select item 148974968210.

rs1489749682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83806907 (GRCh38)
16:83840512 (GRCh37)
Canonical SPDI:: NC_000016.10:83806906:C:T
Gene:: HSBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83806907C>T, NC_000016.9:g.83840512C>T

Select item 148923203911.

rs1489232039 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:83807706 (GRCh38)
16:83841311 (GRCh37)
Canonical SPDI:: NC_000016.10:83807705:CA:
Gene:: HSBP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83807706_83807707del, NC_000016.9:g.83841311_83841312del

Select item 148876338012.

rs1488763380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:83805941 (GRCh38)
16:83839546 (GRCh37)
Canonical SPDI:: NC_000016.10:83805940:T:C
Gene:: LOC102724163 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000016.10:g.83805941T>C, NC_000016.9:g.83839546T>C

Select item 148854753713.

rs1488547537 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83811054 (GRCh38)
16:83844659 (GRCh37)
Canonical SPDI:: NC_000016.10:83811053:G:A
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000212/4 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.83811054G>A, NC_000016.9:g.83844659G>A

Select item 148843373014.

rs1488433730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83808856 (GRCh38)
16:83842461 (GRCh37)
Canonical SPDI:: NC_000016.10:83808855:A:G
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83808856A>G, NC_000016.9:g.83842461A>G

Select item 148810663915.

rs1488106639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83811853 (GRCh38)
16:83845458 (GRCh37)
Canonical SPDI:: NC_000016.10:83811852:G:A
Gene:: HSBP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83811853G>A, NC_000016.9:g.83845458G>A, NM_001537.4:c.*435G>A, NM_001537.3:c.*435G>A

Select item 148792740716.

rs1487927407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83810937 (GRCh38)
16:83844542 (GRCh37)
Canonical SPDI:: NC_000016.10:83810936:A:G
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.83810937A>G, NC_000016.9:g.83844542A>G

Select item 148787984617.

rs1487879846 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83810148 (GRCh38)
16:83843753 (GRCh37)
Canonical SPDI:: NC_000016.10:83810147:C:T
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000016.10:g.83810148C>T, NC_000016.9:g.83843753C>T

Select item 148753461118.

rs1487534611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:83810371 (GRCh38)
16:83843976 (GRCh37)
Canonical SPDI:: NC_000016.10:83810370:G:C
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83810371G>C, NC_000016.9:g.83843976G>C

Select item 148708313619.

rs1487083136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:83813287 (GRCh38)
16:83846892 (GRCh37)
Canonical SPDI:: NC_000016.10:83813286:G:A,NC_000016.10:83813286:G:C
Gene:: HSBP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83813287G>A, NC_000016.10:g.83813287G>C, NC_000016.9:g.83846892G>A, NC_000016.9:g.83846892G>C, NM_001537.4:c.*1869G>A, NM_001537.4:c.*1869G>C

Select item 148687336420.

rs1486873364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:83811017 (GRCh38)
16:83844622 (GRCh37)
Canonical SPDI:: NC_000016.10:83811016:G:T
Gene:: HSBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.83811017G>T, NC_000016.9:g.83844622G>T

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