SNP Links for Gene (Select 5175) - SNP

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Select item 14915717591.

rs1491571759 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:64353941 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64353941::C
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00173/30 (GnomAD)
HGVS:: NC_000017.11:g.64353941_64353942insC, NW_003315947.1:g.157788_157789insC, NG_047009.1:g.64860_64861insG

Select item 14915538702.

rs1491553870 has merged into rs1180666203 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64403457 (GRCh38)
17:9 (GRCh37)
Canonical SPDI:: NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64403446:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.64403457_64403464del, NC_000017.11:g.64403458_64403464del, NC_000017.11:g.64403460_64403464del, NC_000017.11:g.64403461_64403464del, NC_000017.11:g.64403462_64403464del, NC_000017.11:g.64403463_64403464del, NC_000017.11:g.64403464del, NC_000017.11:g.64403464dup, NC_000017.11:g.64403463_64403464dup, NC_000017.11:g.64403462_64403464dup, NC_000017.11:g.64403461_64403464dup, NC_000017.11:g.64403458_64403464dup, NW_003315947.1:g.207304_207311del, NW_003315947.1:g.207305_207311del, NW_003315947.1:g.207307_207311del, NW_003315947.1:g.207308_207311del, NW_003315947.1:g.207309_207311del, NW_003315947.1:g.207310_207311del, NW_003315947.1:g.207311del, NW_003315947.1:g.207311dup, NW_003315947.1:g.207310_207311dup, NW_003315947.1:g.207309_207311dup, NW_003315947.1:g.207308_207311dup, NW_003315947.1:g.207305_207311dup, NG_047009.1:g.15348_15355del, NG_047009.1:g.15349_15355del, NG_047009.1:g.15351_15355del, NG_047009.1:g.15352_15355del, NG_047009.1:g.15353_15355del, NG_047009.1:g.15354_15355del, NG_047009.1:g.15355del, NG_047009.1:g.15355dup, NG_047009.1:g.15354_15355dup, NG_047009.1:g.15353_15355dup, NG_047009.1:g.15352_15355dup, NG_047009.1:g.15349_15355dup

Select item 14915207193.

rs1491520719 has merged into rs11446231 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64353952 (GRCh38)
17:10 (GRCh37)
Canonical SPDI:: NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64353940:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.64353952_64353957del, NC_000017.11:g.64353953_64353957del, NC_000017.11:g.64353954_64353957del, NC_000017.11:g.64353955_64353957del, NC_000017.11:g.64353956_64353957del, NC_000017.11:g.64353957del, NC_000017.11:g.64353957dup, NC_000017.11:g.64353956_64353957dup, NC_000017.11:g.64353955_64353957dup, NC_000017.11:g.64353950_64353957dup, NW_003315947.1:g.157799_157804del, NW_003315947.1:g.157800_157804del, NW_003315947.1:g.157801_157804del, NW_003315947.1:g.157802_157804del, NW_003315947.1:g.157803_157804del, NW_003315947.1:g.157804del, NW_003315947.1:g.157804dup, NW_003315947.1:g.157803_157804dup, NW_003315947.1:g.157802_157804dup, NW_003315947.1:g.157797_157804dup, NG_047009.1:g.64856_64861del, NG_047009.1:g.64857_64861del, NG_047009.1:g.64858_64861del, NG_047009.1:g.64859_64861del, NG_047009.1:g.64860_64861del, NG_047009.1:g.64861del, NG_047009.1:g.64861dup, NG_047009.1:g.64860_64861dup, NG_047009.1:g.64859_64861dup, NG_047009.1:g.64854_64861dup

Select item 14914588094.

rs1491458809 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAG,AG [Show Flanks]
Chromosome:: 17:64400573 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64400573::AAG,NC_000017.11:64400573::AG
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
HGVS:: NC_000017.11:g.64400573_64400574insAAG, NC_000017.11:g.64400573_64400574insAG, NW_003315947.1:g.204420_204421insAAG, NW_003315947.1:g.204420_204421insAG, NG_047009.1:g.18228_18229insCTT, NG_047009.1:g.18228_18229insCT

Select item 14914282625.

rs1491428262 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:64347682 (GRCh38)
17:5 (GRCh37)
Canonical SPDI:: NC_000017.11:64347675:ATATATAT:ATATAT
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATAT=0.00008/1 (ALFA)
-=0.00136/28 (GnomAD)
HGVS:: NC_000017.11:g.64347676AT[3], NW_003315947.1:g.151523AT[3], NG_047009.1:g.71119AT[3]

Select item 14914095836.

rs1491409583 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:64338239 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64338238:AT:
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000253/3 (ALFA)
-=0.000142/4 (TOMMO)
-=0.000625/69 (GnomAD)
HGVS:: NC_000017.11:g.64338239_64338240del, NW_003315947.1:g.142086_142087del, NG_047009.1:g.80562_80563del

Select item 14913768557.

rs1491376855 has merged into rs1206844579 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 17:64378658 (GRCh38)
17:10 (GRCh37)
Canonical SPDI:: NC_000017.11:64378646:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:64378646:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:64378646:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:64378646:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:64378646:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.64378658_64378659del, NC_000017.11:g.64378659del, NC_000017.11:g.64378659dup, NC_000017.11:g.64378658_64378659dup, NC_000017.11:g.64378657_64378659dup, NW_003315947.1:g.182505_182506del, NW_003315947.1:g.182506del, NW_003315947.1:g.182506dup, NW_003315947.1:g.182505_182506dup, NW_003315947.1:g.182504_182506dup, NG_047009.1:g.40154_40155del, NG_047009.1:g.40155del, NG_047009.1:g.40155dup, NG_047009.1:g.40154_40155dup, NG_047009.1:g.40153_40155dup

Select item 14913139648.

rs1491313964 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT [Show Flanks]
Chromosome:: 17:64347676 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64347676:TAT:TATTAT
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATTAT=0.000084/1 (ALFA)
TAT=0.000035/1 (TOMMO)
TAT=0.000069/9 (GnomAD)
HGVS:: NC_000017.11:g.64347677_64347679dup, NW_003315947.1:g.151524_151526dup, NG_047009.1:g.71123_71125dup

Select item 14912941989.

rs1491294198 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:64378647 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64378647::G
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64378647_64378648insG, NW_003315947.1:g.182494_182495insG, NG_047009.1:g.40154_40155insC

Select item 149122756710.

rs1491227567 has merged into rs1196660765 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 17:64362847 (GRCh38)
17:8 (GRCh37)
Canonical SPDI:: NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:64362837:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.64362847_64362851del, NC_000017.11:g.64362848_64362851del, NC_000017.11:g.64362849_64362851del, NC_000017.11:g.64362850_64362851del, NC_000017.11:g.64362851del, NC_000017.11:g.64362851dup, NC_000017.11:g.64362850_64362851dup, NC_000017.11:g.64362849_64362851dup, NW_003315947.1:g.166694_166698del, NW_003315947.1:g.166695_166698del, NW_003315947.1:g.166696_166698del, NW_003315947.1:g.166697_166698del, NW_003315947.1:g.166698del, NW_003315947.1:g.166698dup, NW_003315947.1:g.166697_166698dup, NW_003315947.1:g.166696_166698dup, NG_047009.1:g.55960_55964del, NG_047009.1:g.55961_55964del, NG_047009.1:g.55962_55964del, NG_047009.1:g.55963_55964del, NG_047009.1:g.55964del, NG_047009.1:g.55964dup, NG_047009.1:g.55963_55964dup, NG_047009.1:g.55962_55964dup

Select item 149121259011.

rs1491212590 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 17:64403447 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64403447:T:TAT
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.64403448_64403449insAT, NW_003315947.1:g.207295_207296insAT, NG_047009.1:g.15354_15355insTA

Select item 149113602912.

rs1491136029 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:64362837 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64362836:CA:
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.64362837_64362838del, NW_003315947.1:g.166684_166685del, NG_047009.1:g.55964_55965del

Select item 149111262013.

rs1491112620 has merged into rs149206249 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64338257 (GRCh38)
17:16 (GRCh37)
Canonical SPDI:: NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64338239:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.64338257_64338262del, NC_000017.11:g.64338258_64338262del, NC_000017.11:g.64338259_64338262del, NC_000017.11:g.64338260_64338262del, NC_000017.11:g.64338261_64338262del, NC_000017.11:g.64338262del, NC_000017.11:g.64338262dup, NC_000017.11:g.64338261_64338262dup, NC_000017.11:g.64338260_64338262dup, NC_000017.11:g.64338259_64338262dup, NC_000017.11:g.64338258_64338262dup, NC_000017.11:g.64338255_64338262dup, NW_003315947.1:g.142104_142109del, NW_003315947.1:g.142105_142109del, NW_003315947.1:g.142106_142109del, NW_003315947.1:g.142107_142109del, NW_003315947.1:g.142108_142109del, NW_003315947.1:g.142109del, NW_003315947.1:g.142109dup, NW_003315947.1:g.142108_142109dup, NW_003315947.1:g.142107_142109dup, NW_003315947.1:g.142106_142109dup, NW_003315947.1:g.142105_142109dup, NW_003315947.1:g.142102_142109dup, NG_047009.1:g.80557_80562del, NG_047009.1:g.80558_80562del, NG_047009.1:g.80559_80562del, NG_047009.1:g.80560_80562del, NG_047009.1:g.80561_80562del, NG_047009.1:g.80562del, NG_047009.1:g.80562dup, NG_047009.1:g.80561_80562dup, NG_047009.1:g.80560_80562dup, NG_047009.1:g.80559_80562dup, NG_047009.1:g.80558_80562dup, NG_047009.1:g.80555_80562dup

Select item 149103724114.

rs1491037241 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 17:64338262 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64338261:TA:
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000017.11:g.64338262_64338263del, NW_003315947.1:g.142109_142110del, NG_047009.1:g.80539_80540del

Select item 149095697815.

rs1490956978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:64356908 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64356907:T:A
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.64356908T>A, NW_003315947.1:g.160755T>A, NG_047009.1:g.61894A>T

Select item 149093335716.

rs1490933357 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:64412107 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64412106:T:C,NC_000017.11:64412106:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.64412107T>C, NC_000017.11:g.64412107T>G, NW_003315947.1:g.215954T>C, NW_003315947.1:g.215954T>G, NG_047009.1:g.6695A>G, NG_047009.1:g.6695A>C

Select item 149092842417.

rs1490928424 has merged into rs1197572275 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 17:64342596 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64342595:GGGGGGG:GGGGGG,NC_000017.11:64342595:GGGGGGG:GGGGGGGG
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64342602del, NC_000017.11:g.64342602dup, NW_003315947.1:g.146449del, NW_003315947.1:g.146449dup, NG_047009.1:g.76206del, NG_047009.1:g.76206dup

Select item 149092738118.

rs1490927381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:64319350 (GRCh38)
17:62396710 (GRCh37)
Canonical SPDI:: NC_000017.11:64319349:G:A
Gene:: PECAM1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64319350G>A, NC_000017.10:g.62396710G>A, NG_047009.1:g.99452C>T, NW_003315947.1:g.123197G>A

Select item 149091034319.

rs1490910343 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:64396776 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64396775:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.64396776C>T, NW_003315947.1:g.200623C>T, NG_047009.1:g.22026G>A

Select item 149089281920.

rs1490892819 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:64341617 (GRCh38)
17:-1 (GRCh37)
Canonical SPDI:: NC_000017.11:64341616:T:A,NC_000017.11:64341616:T:C
Gene:: PECAM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.64341617T>A, NC_000017.11:g.64341617T>C, NW_003315947.1:g.145464T>A, NW_003315947.1:g.145464T>C, NG_047009.1:g.77185A>T, NG_047009.1:g.77185A>G

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