SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Display Settings:

Summary

Format

Summary

Send to:

Choose Destination

File
Clipboard
Collections

Select item 28574001.

rs2857400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50199556 (GRCh38)
17:48276917 (GRCh37)
Canonical SPDI:: NC_000017.11:50199555:C:T
Gene:: COL1A1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.50199556C>T, NC_000017.10:g.48276917C>T, NG_007400.1:g.7084G>A, NM_000088.4:c.333G>A, NM_000088.3:c.333G>A, XM_005257058.5:c.333G>A, XM_005257058.4:c.333G>A, XM_005257058.3:c.333G>A, XM_005257058.2:c.333G>A, XM_005257058.1:c.333G>A, XM_005257059.5:c.333G>A, XM_005257059.4:c.333G>A, XM_005257059.3:c.333G>A, XM_005257059.2:c.333G>A, XM_005257059.1:c.333G>A, XM_011524341.2:c.333G>A, XM_011524341.1:c.333G>A

Supplemental Content

Search details

Recent activity

Clear Turn Off Turn On

rs2857400 (1)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...